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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Bethlem myopathy (MONDO:0008029)
..Starting node ..Bethlem myopathy 2 ()
Child Nodes:
Sister Nodes:
..Bethlem myopathy 1 ()
..Bethlem myopathy 2 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

14655

Name:

Bethlem myopathy 2

Definition:

Any Bethlem myopathy in which the cause of the disease is a mutation in the COL12A1 gene.

Alternative IDs:

616471

ParentIDs:

TreeNumbers:

Synonyms:

Bethlem myopathy 2; Bethlem myopathy 2; BTHLM2; Bethlem myopathy caused by mutation in COL12A1; Bethlem myopathy type 2; BTHLM2; COL12A1 Bethlem myopathy; EDS, myopathic type; Ehlers-Danlos syndrome, myopathic type

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 616471;
MSeqDR :
Genes:

Phenotypes

1	HP:0001371	Flexion contracture
2	HP:0002808	Kyphosis
3	HP:0001270	Motor delay
4	HP:0001324	Muscle weakness NAMDC: Muscle weakness: diffuse
5	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
6	HP:0003198	Myopathy NAMDC: Myopathy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004370.6(COL12A1):c.8100+3_8100+6del	1303	COL12A1	Pathogenic/Likely pathogenic	2149352927	RCV001372379\|RCV002253807;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75818728	75818731	75818727	-
NM_004370.5(COL12A1):c.7356del	1303	COL12A1	Pathogenic/Likely pathogenic	1473576494	RCV001233982\|RCV001577755;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75827261	75827261	6:g.75827261_75827261del	-
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	1303	COL12A1	Pathogenic/Likely pathogenic	796052093	RCV000186499\|RCV000480507\|RCV000664222\|RCV000850513;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C422531	6	75831103	75831103	NC_000006.11:g.75831103A>G	ClinGen:CA203987,UniProtKB:Q99715#VAR_074547,OMIM:120320.0002	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6819del (p.Phe2273fs)	1303	COL12A1	Pathogenic/Likely pathogenic	1765881602	RCV002037924\|RCV003229074;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75833716	75833716	75833715	-
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)	1303	COL12A1	Pathogenic/Likely pathogenic	1767310072	RCV001058328\|RCV001811635;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75858121	75858121	6:g.75858121G>A	-
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)	1303	COL12A1	Pathogenic/Likely pathogenic	1304140510	RCV001194634\|RCV002559231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861682	75861682	6:g.75861682G>A	-
NC_000006.11:g.(?_75796253)_(75912518_?)del	1303	COL12A1	Pathogenic	-1	RCV001385960;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796253	75912518	-1	-
NM_004370.6(COL12A1):c.8759_8762del (p.Met2920fs)	1303	COL12A1	Pathogenic	-1	RCV002988733;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75800005	75800008	NC_000006.11:g.75800006_75800009del	-
NM_004370.6(COL12A1):c.8577+1del	1303	COL12A1	Pathogenic	-1	RCV002838880;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806968	75806968	NC_000006.11:g.75806969del	-
NM_004370.6(COL12A1):c.8571del (p.Pro2858fs)	1303	COL12A1	Pathogenic	2149337320	RCV001381736;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806975	75806975	75806974	-
NM_004370.6(COL12A1):c.8383G>T (p.Gly2795Ter)	1303	COL12A1	Pathogenic	1768358162	RCV001036430;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812345	75812345	6:g.75812345C>A	-
NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp)	1303	COL12A1	Pathogenic	796052094	RCV000186500;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812371	75812371	6:g.75812371C>T	ClinGen:CA203989,UniProtKB:Q99715#VAR_074548,OMIM:120320.0003	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8329G>C (p.Gly2777Arg)	1303	COL12A1	Pathogenic	-1	RCV003234733;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812399	75812399		OMIM:120320.0005
NM_004370.6(COL12A1):c.8100+2T>C	1303	COL12A1	Pathogenic	1768702301	RCV001046111;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818732	75818732	6:g.75818732A>G	-
NM_004370.6(COL12A1):c.8100+2T>G	1303	COL12A1	Pathogenic	-1	RCV003034644;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818732	75818732	NC_000006.11:g.75818732A>C	-
NM_004370.6(COL12A1):c.7925_7926del (p.Thr2642fs)	1303	COL12A1	Pathogenic	1582068925	RCV000818753;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822944	75822945	6:g.75822944_75822945del	-
NM_004370.6(COL12A1):c.7840+1G>A	1303	COL12A1	Pathogenic	875989819	RCV000186498\|RCV001852431;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823317	75823317	6:g.75823317C>T	ClinGen:CA10575740,OMIM:120320.0001	C4225314 616470 Ullrich congenital muscular dystrophy 2;
NM_004370.6(COL12A1):c.7377del (p.Val2460fs)	1303	COL12A1	Pathogenic	-1	RCV002958504;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827240	75827240	NC_000006.11:g.75827240del	-
NM_004370.6(COL12A1):c.7085del (p.Gln2362fs)	1303	COL12A1	Pathogenic	2149369481	RCV001382528;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831019	75831019	75831018	-
NC_000006.11:g.(?_75833026)_(75912508_?)del	1303	COL12A1	Pathogenic	-1	RCV001959085;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833026	75912508	-1	-
NM_004370.6(COL12A1):c.6737_6812del (p.Gln2246fs)	1303	COL12A1	Pathogenic	2149373593	RCV001982626;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833723	75833798	75833722	-
NM_004370.6(COL12A1):c.6612T>A (p.Tyr2204Ter)	1303	COL12A1	Pathogenic	1765909471	RCV001216731;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834083	75834083	6:g.75834083A>T	-
NM_004370.6(COL12A1):c.6125C>A (p.Ser2042Ter)	1303	COL12A1	Pathogenic	767845062	RCV001209884;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839892	75839892	6:g.75839892G>T	-
NM_004370.6(COL12A1):c.6094A>T (p.Arg2032Ter)	1303	COL12A1	Pathogenic	-1	RCV002931918;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839923	75839923	NC_000006.11:g.75839923T>A	-
NM_004370.6(COL12A1):c.5823del (p.Val1942fs)	1303	COL12A1	Pathogenic	-1	RCV002847905;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841770	75841770	NC_000006.11:g.75841771del	-
NM_004370.6(COL12A1):c.5269C>T (p.Arg1757Ter)	1303	COL12A1	Pathogenic	-1	RCV003060061;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75847278	75847278	NC_000006.11:g.75847278G>A	-
NM_004370.6(COL12A1):c.4924G>T (p.Glu1642Ter)	1303	COL12A1	Pathogenic	-1	RCV002770719;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75851781	75851781	NC_000006.11:g.75851781C>A	-
NM_004370.6(COL12A1):c.4738del (p.Ser1580fs)	1303	COL12A1	Pathogenic	1471550984	RCV000813936;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853057	75853057	6:g.75853057_75853057del	-
NC_000006.11:g.(?_75855798)_(75861023_?)del	1303	COL12A1	Pathogenic	-1	RCV001970165;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855798	75861023	-1	-
NM_004370.6(COL12A1):c.4414dup (p.Thr1472fs)	1303	COL12A1	Pathogenic	1767268002	RCV001235408;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857393	75857394	6:g.75857393_75857394insT	-
NM_004370.6(COL12A1):c.4300C>T (p.Arg1434Ter)	1303	COL12A1	Pathogenic	1562223444	RCV000817058;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857508	75857508	6:g.75857508G>A	-
NM_004370.6(COL12A1):c.4282C>T (p.Gln1428Ter)	1303	COL12A1	Pathogenic	-1	RCV003044705;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858079	75858079	NC_000006.11:g.75858079G>A	-
NM_004370.6(COL12A1):c.4245T>A (p.Tyr1415Ter)	1303	COL12A1	Pathogenic	-1	RCV003030987;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858116	75858116	NC_000006.11:g.75858116A>T	-
NM_004370.6(COL12A1):c.4231_4232del (p.Ser1411fs)	1303	COL12A1	Pathogenic	-1	RCV002834998;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858129	75858130	NC_000006.11:g.75858129_75858130del	-
NM_004370.6(COL12A1):c.4186C>T (p.Arg1396Ter)	1303	COL12A1	Pathogenic	-1	RCV003405018;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858175	75858175		-
NM_004370.6(COL12A1):c.4177del (p.Ile1393fs)	1303	COL12A1	Pathogenic	1767314344	RCV001067884;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858184	75858184	6:g.75858184_75858184del	-
NM_004370.6(COL12A1):c.4172dup (p.Leu1391fs)	1303	COL12A1	Pathogenic	1582133194	RCV000795690;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858188	75858189	6:g.75858188_75858189insA	-
NM_004370.6(COL12A1):c.3994del (p.Ala1332fs)	1303	COL12A1	Pathogenic	1554182935	RCV000551241;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861589	75861589	6:g.75861589_75861589del	ClinGen:CA658657603	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3758T>G (p.Leu1253Ter)	1303	COL12A1	Pathogenic	1582139761	RCV000801561;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861924	75861924	6:g.75861924A>C	-
NM_004370.6(COL12A1):c.27_42del (p.Ala10fs)	1303	COL12A1	Pathogenic	2149492561	RCV001884972;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912467	75912482	75912466	-
NM_004370.6(COL12A1):c.8393_8415+5del	1303	COL12A1	Likely pathogenic	2149344192	RCV001969630;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812308	75812335	75812307	-
NM_004370.6(COL12A1):c.8415+1G>C	1303	COL12A1	Likely pathogenic	1768356177	RCV001222525;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812312	75812312	6:g.75812312C>G	-
NM_004370.6(COL12A1):c.8320-15_8379delinsCA	1303	COL12A1	Likely pathogenic	-1	RCV002942873;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812349	75812423	NC_000006.11:g.75812349_75812423delinsTG	-
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)	1303	COL12A1	Likely pathogenic	-1	RCV003016506;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75812363	75812368	NC_000006.11:g.75812363_75812368delinsTGGAGGCCTGGA	-
NM_004370.6(COL12A1):c.8319+1G>C	1303	COL12A1	Likely pathogenic	1768416586	RCV001221494\|RCV001535747;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Or	6	75813472	75813472	6:g.75813472C>G	-
NM_004370.6(COL12A1):c.8265+1G>A	1303	COL12A1	Likely pathogenic	2149347624	RCV001966406;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814921	75814921	75814921	-
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)	1303	COL12A1	Likely pathogenic	1768488927	RCV001093180\|RCV002226752;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814929	75814929	6:g.75814929C>T	-
NM_004370.6(COL12A1):c.8179-2A>G	1303	COL12A1	Likely pathogenic	1768495540	RCV001056502;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75815010	75815010	6:g.75815010T>C	-
NM_004370.6(COL12A1):c.8101-1G>T	1303	COL12A1	Likely pathogenic	2149349312	RCV002036271;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816213	75816213	75816213	-
NM_004370.6(COL12A1):c.7697+1G>C	1303	COL12A1	Likely pathogenic	-1	RCV002289033;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825499	75825499	75825499	-
NM_004370.6(COL12A1):c.6872-2A>G	1303	COL12A1	Likely pathogenic	2149372690	RCV001378005;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833122	75833122	75833122	-
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)	1303	COL12A1	Likely pathogenic	1766404539	RCV002227870;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843038	75843038	75843038	-
NM_004370.6(COL12A1):c.5664+1G>A	1303	COL12A1	Likely pathogenic	1766437216	RCV001986702;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843573	75843573	75843573	-
NM_004370.6(COL12A1):c.5230+1G>A	1303	COL12A1	Likely pathogenic	1274606112	RCV000701069\|RCV003228982;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848163	75848163	NC_000006.11:g.75848163C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4418-1G>A	1303	COL12A1	Likely pathogenic	984784417	RCV002014265;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855961	75855961	75855961	-
NM_004370.6(COL12A1):c.395-2A>C	1303	COL12A1	Likely pathogenic	1562310723	RCV000703266;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899533	75899533	6:g.75899533T>G	-	C4225313 616471 Bethlem myopathy 2;
NC_000006.12:g.(?_75086537)_(75202802_?)dup	1303	COL12A1	Uncertain significance	-1	RCV001032197;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796253	75912518	-1	-
NC_000006.11:g.(?_75796253)_(75855181_?)del	1303	COL12A1	Uncertain significance	-1	RCV001351673;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796253	75855181	-1	-
NC_000006.11:g.(?_75796263)_(75813546_?)dup	1303	COL12A1	Uncertain significance	-1	RCV001923903;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796263	75813546	-1	-
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	746453262	RCV000686747\|RCV003278989\|RCV003144486;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	75796268	75796268	NC_000006.11:g.75796268C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9186C>T (p.Ser3062=)	1303	COL12A1	Conflicting interpretations of pathogenicity	375094592	RCV001424283\|RCV001555923;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75796269	75796269	75796269	-
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)	1303	COL12A1	Uncertain significance	-1	RCV003084442;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796270	75796270	NC_000006.11:g.75796270G>A	-
NM_004370.6(COL12A1):c.9182-11A>G	1303	COL12A1	Likely benign	-1	RCV002999018;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75796284	75796284	NC_000006.11:g.75796284T>C	-
NM_004370.6(COL12A1):c.9182-19C>A	1303	COL12A1	Likely benign	1767498861	RCV002218592;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75796292	75796292	75796292	-
NM_004370.6(COL12A1):c.9181+18T>C	1303	COL12A1	Likely benign	-1	RCV002629336;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797275	75797275	NC_000006.11:g.75797275A>G	-
NM_004370.6(COL12A1):c.9181+16T>C	1303	COL12A1	Likely benign	-1	RCV002877079;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797277	75797277	NC_000006.11:g.75797277A>G	-
NM_004370.6(COL12A1):c.9181+5G>A	1303	COL12A1	Uncertain significance	-1	RCV002306396\|RCV003102297;	N	MedGen:CN517202\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797288	75797288	75797288	-
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)	1303	COL12A1	Uncertain significance	-1	RCV003075617;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797296	75797296	NC_000006.11:g.75797296G>A	-
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser)	1303	COL12A1	Benign	970547	RCV000245895\|RCV001511463\|RCV001540056\|RCV001582862\|RCV001582861;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MOND	6	75797302	75797302	NC_000006.11:g.75797302C>T	ClinGen:CA3892007,UniProtKB:Q99715#VAR_074549	CN169374 not specified;
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)	1303	COL12A1	Benign	-1	RCV002856780;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797305	75797305	NC_000006.11:g.75797305G>A	-
NM_004370.6(COL12A1):c.9165C>T (p.Asn3055=)	1303	COL12A1	Likely benign	369646700	RCV000878206\|RCV002462212;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75797309	75797309	6:g.75797309G>A	-
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=)	1303	COL12A1	Benign	35292916	RCV000254078\|RCV000528610\|RCV001651183;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75797312	75797312	NC_000006.11:g.75797312G>A	ClinGen:CA3892012	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)	1303	COL12A1	Uncertain significance	-1	RCV002805591;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797325	75797325	NC_000006.11:g.75797325G>T	-
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)	1303	COL12A1	Uncertain significance	1268620135	RCV000694199;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797328	75797328	NC_000006.11:g.75797328C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9144G>C (p.Gln3048His)	1303	COL12A1	Likely benign	57396313	RCV001245394;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797330	75797330	6:g.75797330C>G	-
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)	1303	COL12A1	Uncertain significance	-1	RCV002910150;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797331	75797331	NC_000006.11:g.75797331T>G	-
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val)	1303	COL12A1	Uncertain significance	751471471	RCV000489027\|RCV001865517;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797340	75797340	6:g.75797340T>A	ClinGen:CA364732756	CN169374 not specified;
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly)	1303	COL12A1	Uncertain significance	2149322777	RCV001906144;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797344	75797344	75797344	-
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu)	1303	COL12A1	Uncertain significance	1767566470	RCV001911334;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797352	75797352	75797352	-
NM_004370.6(COL12A1):c.9119C>T (p.Pro3040Leu)	1303	COL12A1	Likely benign	-1	RCV002646171;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797355	75797355	NC_000006.11:g.75797355G>A	-
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)	1303	COL12A1	Uncertain significance	-1	RCV002300037;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797359	75797359	75797359	-
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)	1303	COL12A1	Uncertain significance	370090007	RCV000811597\|RCV002537357\|RCV003145168;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75797364	75797364	6:g.75797364G>A	-
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)	1303	COL12A1	Uncertain significance	-1	RCV002295070;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797365	75797365	75797365	-
NM_004370.6(COL12A1):c.9108A>G (p.Gly3036=)	1303	COL12A1	Likely benign	777425494	RCV000550061;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797366	75797366	6:g.75797366T>C	ClinGen:CA3892020	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9108A>T (p.Gly3036=)	1303	COL12A1	Likely benign	-1	RCV002928947;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797366	75797366		-
NM_004370.6(COL12A1):c.9104G>A (p.Arg3035Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	749005420	RCV001570336\|RCV001866023;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797370	75797370	75797370	-
NM_004370.6(COL12A1):c.9084T>C (p.Arg3028=)	1303	COL12A1	Likely benign	1448973629	RCV001391835;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797390	75797390	6:g.75797390A>G	-
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	1303	COL12A1	Conflicting interpretations of pathogenicity	41266761	RCV000248918\|RCV000488209\|RCV000987739\|RCV001082633\|RCV002519921;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGe	6	75797391	75797391	6:g.75797391C>T	ClinGen:CA3892023	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys)	1303	COL12A1	Uncertain significance	1767569916	RCV001776317\|RCV002541054;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797392	75797392	75797392	-
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)	1303	COL12A1	Uncertain significance	2149322917	RCV002027927;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797396	75797396	75797395	-
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)	1303	COL12A1	Uncertain significance	1767570608	RCV001068079;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797397	75797397	6:g.75797397G>A	-
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)	1303	COL12A1	Uncertain significance	376189614	RCV000704645;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797398	75797398	NC_000006.11:g.75797398G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser)	1303	COL12A1	Uncertain significance	376189614	RCV001344330;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797398	75797398	75797398	-
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)	1303	COL12A1	Uncertain significance	-1	RCV003063662;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797400	75797400	NC_000006.11:g.75797400G>T	-
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser)	1303	COL12A1	Uncertain significance	560180665	RCV002020457;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797401	75797401	75797401	-
NM_004370.6(COL12A1):c.9072C>A (p.Gly3024=)	1303	COL12A1	Likely benign	572512247	RCV001410375;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797402	75797402	75797402	-
NM_004370.6(COL12A1):c.9072C>T (p.Gly3024=)	1303	COL12A1	Conflicting interpretations of pathogenicity	572512247	RCV002172150\|RCV003146506;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75797402	75797402	75797402	-
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	200901687	RCV001980994\|RCV003146461;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75797410	75797410	75797410	-
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro)	1303	COL12A1	Uncertain significance	1307746550	RCV001294456;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797419	75797419	75797419	-
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile)	1303	COL12A1	Uncertain significance	1767573014	RCV001304433;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797424	75797424	75797424	-
NM_004370.6(COL12A1):c.9048C>T (p.Ser3016=)	1303	COL12A1	Likely benign	374037516	RCV001502766;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75797426	75797426	6:g.75797426G>A	-
NM_004370.6(COL12A1):c.9041C>T (p.Pro3014Leu)	1303	COL12A1	Uncertain significance	751306147	RCV001247091;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797433	75797433	6:g.75797433G>A	-
NM_004370.6(COL12A1):c.9039A>C (p.Pro3013=)	1303	COL12A1	Likely benign	-1	RCV002846760;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797435	75797435		-
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)	1303	COL12A1	Uncertain significance	376161354	RCV001753294\|RCV001868727;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797436	75797436	75797436	-
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)	1303	COL12A1	Uncertain significance	1767574420	RCV001064412;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797442	75797442	6:g.75797442G>A	-
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu)	1303	COL12A1	Uncertain significance	1767574773	RCV002253028\|RCV002293554\|RCV003094117;	N	\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797460	75797460	75797460	-
NM_004370.6(COL12A1):c.9011-20_9011-19del	1303	COL12A1	Likely benign	-1	RCV003109209;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797482	75797483	NC_000006.11:g.75797483_75797484del	-
NM_004370.6(COL12A1):c.9011-20T>A	1303	COL12A1	Likely benign	1336319358	RCV002207534;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75797483	75797483	75797483	-
NM_004370.6(COL12A1):c.9010+5G>A	1303	COL12A1	Uncertain significance	-1	RCV002710446;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798817	75798817	NC_000006.11:g.75798817C>T	-
NM_004370.6(COL12A1):c.9010+4G>C	1303	COL12A1	Uncertain significance	2149325295	RCV001917484;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798818	75798818	75798818	-
NM_004370.6(COL12A1):c.9010+2T>C	1303	COL12A1	Uncertain significance	-1	RCV002288263;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798820	75798820	75798820	-
NM_004370.6(COL12A1):c.9006C>T (p.Pro3002=)	1303	COL12A1	Likely benign	184663595	RCV000556712\|RCV001572262;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75798826	75798826	NC_000006.11:g.75798826G>A	ClinGen:CA3892054	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)	1303	COL12A1	Uncertain significance	-1	RCV002511217\|RCV002571605;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798828	75798828	NC_000006.11:g.75798828G>A	-
NM_004370.6(COL12A1):c.9003C>A (p.Gly3001=)	1303	COL12A1	Likely benign	1281725784	RCV002154281;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798829	75798829	75798829	-
NM_004370.6(COL12A1):c.8994G>A (p.Gly2998=)	1303	COL12A1	Likely benign	1321003013	RCV001438633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798838	75798838	6:g.75798838C>T	-
NM_004370.6(COL12A1):c.8994G>T (p.Gly2998=)	1303	COL12A1	Likely benign	1321003013	RCV001434249;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798838	75798838	75798838	-
NM_004370.6(COL12A1):c.8994G>C (p.Gly2998=)	1303	COL12A1	Likely benign	1321003013	RCV002190783;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798838	75798838	75798838	-
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)	1303	COL12A1	Uncertain significance	778638053	RCV001228710;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798842	75798842	6:g.75798842C>T	-
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)	1303	COL12A1	Uncertain significance	757075255	RCV001194635\|RCV001776138\|RCV001863068;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798843	75798843	6:g.75798843G>A	-
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro)	1303	COL12A1	Benign	34846477	RCV000244132\|RCV000536092\|RCV001668502;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75798852	75798852	NC_000006.11:g.75798852A>G	ClinGen:CA3892059	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=)	1303	COL12A1	Benign/Likely benign	190501064	RCV000652939\|RCV001559365;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75798862	75798862	NC_000006.11:g.75798862A>G	ClinGen:CA3892061	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)	1303	COL12A1	Uncertain significance	-1	RCV002999365;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75798878	75798878	NC_000006.11:g.75798878T>C	-
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)	1303	COL12A1	Uncertain significance	1767642101	RCV001057083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798879	75798879	6:g.75798879C>T	-
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe)	1303	COL12A1	Uncertain significance	1767642437	RCV001309983;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75798886	75798886	75798886	-
NM_004370.6(COL12A1):c.8941+18C>T	1303	COL12A1	Benign	368092763	RCV002132013;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799808	75799808	75799808	-
NM_004370.6(COL12A1):c.8941+14G>C	1303	COL12A1	Likely benign	-1	RCV002775555;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799812	75799812	NC_000006.11:g.75799812C>G	-
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)	1303	COL12A1	Uncertain significance	-1	RCV003051378;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799828	75799828	NC_000006.11:g.75799828C>T	-
NM_004370.6(COL12A1):c.8937A>G (p.Glu2979=)	1303	COL12A1	Likely benign	372365979	RCV001477846;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799830	75799830	75799830	-
NM_004370.6(COL12A1):c.8931T>C (p.Pro2977=)	1303	COL12A1	Likely benign	2149326774	RCV002199344;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799836	75799836	75799836	-
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr)	1303	COL12A1	Uncertain significance	1310755474	RCV001924947;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799838	75799838	75799838	-
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)	1303	COL12A1	Uncertain significance	748714098	RCV001753300\|RCV001868728;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799840	75799840	75799840	-
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=)	1303	COL12A1	Benign	190820180	RCV000652949\|RCV001672919;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75799842	75799842	6:g.75799842T>C	ClinGen:CA3892084	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8916G>A (p.Gly2972=)	1303	COL12A1	Likely benign	2149326803	RCV002178180;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799851	75799851	75799851	-
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu)	1303	COL12A1	Uncertain significance	1582030236	RCV000813999;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799852	75799852	6:g.75799852C>T	-
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln)	1303	COL12A1	Uncertain significance	1767686939	RCV001327776;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799855	75799855	75799855	-
NM_004370.6(COL12A1):c.8904G>A (p.Pro2968=)	1303	COL12A1	Likely benign	181007051	RCV000951700\|RCV001553383;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75799863	75799863	6:g.75799863C>T	-
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)	1303	COL12A1	Uncertain significance	771010070	RCV001222524;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799864	75799864	6:g.75799864G>A	-
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser)	1303	COL12A1	Uncertain significance	1216270127	RCV001373556;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799865	75799865	75799865	-
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)	1303	COL12A1	Uncertain significance	369768310	RCV001231416;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799876	75799876	6:g.75799876C>A	-
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp)	1303	COL12A1	Uncertain significance	760317754	RCV001951813;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799877	75799877	75799877	-
NM_004370.6(COL12A1):c.8890C>A (p.Arg2964=)	1303	COL12A1	Likely benign	760317754	RCV002215251;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799877	75799877	75799877	-
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)	1303	COL12A1	Conflicting interpretations of pathogenicity	373455368	RCV000791855;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799881	75799881	6:g.75799881C>A	-
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala)	1303	COL12A1	Uncertain significance	761885492	RCV000694968;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799882	75799882	NC_000006.11:g.75799882C>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8880G>C (p.Gly2960=)	1303	COL12A1	Likely benign	774577979	RCV001441767;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799887	75799887	6:g.75799887C>G	-
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser)	1303	COL12A1	Uncertain significance	1562090566	RCV000686379;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799892	75799892	NC_000006.11:g.75799892G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8868A>G (p.Arg2956=)	1303	COL12A1	Likely benign	942666795	RCV001437773;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799899	75799899	75799899	-
NM_004370.6(COL12A1):c.8865C>T (p.Ala2955=)	1303	COL12A1	Likely benign	2149326931	RCV002138610;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799902	75799902	75799902	-
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val)	1303	COL12A1	Uncertain significance	1554166746	RCV000551122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799909	75799909	6:g.75799909G>A	ClinGen:CA364734844	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)	1303	COL12A1	Likely benign	201760746	RCV001298336;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799910	75799910	75799910	-
NM_004370.6(COL12A1):c.8856C>T (p.Ser2952=)	1303	COL12A1	Conflicting interpretations of pathogenicity	375760724	RCV000887159\|RCV002065516;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799911	75799911	6:g.75799911G>A	-
NM_004370.6(COL12A1):c.8841G>A (p.Pro2947=)	1303	COL12A1	Likely benign	767339128	RCV000557791;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799926	75799926	NC_000006.11:g.75799926C>T	ClinGen:CA3892095	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8835T>A (p.Gly2945=)	1303	COL12A1	Likely benign	2149327011	RCV001496547;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799932	75799932	75799932	-
NM_004370.6(COL12A1):c.8832G>A (p.Pro2944=)	1303	COL12A1	Likely benign	2149327016	RCV002122248;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799935	75799935	75799935	-
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	199702595	RCV000690090\|RCV000998647\|RCV001771945;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799936	75799936	6:g.75799936G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8830C>G (p.Pro2944Ala)	1303	COL12A1	Likely benign	778365596	RCV001327109;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799937	75799937	75799937	-
NM_004370.6(COL12A1):c.8829G>A (p.Pro2943=)	1303	COL12A1	Likely benign	-1	RCV002725824;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799938	75799938		-
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)	1303	COL12A1	Uncertain significance	-1	RCV003095346;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799939	75799939	NC_000006.11:g.75799939G>A	-
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)	1303	COL12A1	Uncertain significance	752206319	RCV000814361\|RCV003148870;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75799954	75799954	6:g.75799954C>A	-
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	778941390	RCV000801413\|RCV002534678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75799955	75799955	6:g.75799955G>A	-
NM_004370.6(COL12A1):c.8799T>C (p.Asp2933=)	1303	COL12A1	Likely benign	768543325	RCV001445731;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799968	75799968	75799968	-
NM_004370.6(COL12A1):c.8790T>C (p.Ile2930=)	1303	COL12A1	Likely benign	-1	RCV002701179;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75799977	75799977		-
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)	1303	COL12A1	Uncertain significance	-1	RCV002740894\|RCV002750104;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75799984	75799984	NC_000006.11:g.75799984T>C	-
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)	1303	COL12A1	Uncertain significance	-1	RCV002300182;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799990	75799990	75799990	-
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)	1303	COL12A1	Uncertain significance	-1	RCV002993729;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75799996	75799996	NC_000006.11:g.75799996T>C	-
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)	1303	COL12A1	Uncertain significance	1767695881	RCV001243768;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75800005	75800005	6:g.75800005T>A	-
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)	1303	COL12A1	Uncertain significance	769818518	RCV002012285\|RCV002265052;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75800014	75800014	75800014	-
NM_004370.6(COL12A1):c.8753-19G>A	1303	COL12A1	Benign	185465645	RCV002194510;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75800033	75800033	75800033	-
NM_004370.6(COL12A1):c.8752+18T>C	1303	COL12A1	Likely benign	-1	RCV003092420;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801021	75801021	NC_000006.11:g.75801021A>G	-
NM_004370.6(COL12A1):c.8752+15C>G	1303	COL12A1	Likely benign	-1	RCV002574995;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801024	75801024	NC_000006.11:g.75801024G>C	-
NM_004370.6(COL12A1):c.8752+14T>C	1303	COL12A1	Likely benign	-1	RCV002638621;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75801025	75801025	NC_000006.11:g.75801025A>G	-
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg)	1303	COL12A1	Uncertain significance	1562093184	RCV000688176;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801040	75801040	NC_000006.11:g.75801040A>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8745G>A (p.Leu2915=)	1303	COL12A1	Likely benign	749317169	RCV001560624\|RCV002568403;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75801046	75801046	75801046	-
NM_004370.6(COL12A1):c.8743T>C (p.Leu2915=)	1303	COL12A1	Likely benign	376238729	RCV001395396;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801048	75801048	6:g.75801048A>G	-
NM_004370.6(COL12A1):c.8725A>C (p.Arg2909=)	1303	COL12A1	Likely benign	-1	RCV002838393;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801066	75801066		-
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)	1303	COL12A1	Uncertain significance	-1	RCV002629493;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75801071	75801071	NC_000006.11:g.75801071A>T	-
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)	1303	COL12A1	Uncertain significance	759065663	RCV001886170\|RCV003328683;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75801077	75801077	75801077	-
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter)	1303	COL12A1	Conflicting interpretations of pathogenicity	371399251	RCV000796327\|RCV003148865\|RCV003411750;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75801078	75801078	6:g.75801078G>A	-
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr)	1303	COL12A1	Uncertain significance	1427337137	RCV001866814;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801080	75801080	75801080	-
NM_004370.6(COL12A1):c.8703G>A (p.Gln2901=)	1303	COL12A1	Likely benign	-1	RCV003040805;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75801088	75801088		-
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe)	1303	COL12A1	Uncertain significance	1198783904	RCV000798850;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801092	75801092	6:g.75801092G>A	-
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)	1303	COL12A1	Uncertain significance	780457606	RCV001235261;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801096	75801096	6:g.75801096C>T	-
NM_004370.6(COL12A1):c.8686-5A>T	1303	COL12A1	Conflicting interpretations of pathogenicity	749754621	RCV000652946\|RCV001788311;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75801110	75801110	NC_000006.11:g.75801110T>A	ClinGen:CA3892144	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8685+18dup	1303	COL12A1	Benign	763196298	RCV002171061;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801187	75801188	75801187	-
NM_004370.6(COL12A1):c.8685+18A>G	1303	COL12A1	Likely benign	2149328733	RCV001903122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801188	75801188	75801188	-
NM_004370.6(COL12A1):c.8685+13A>T	1303	COL12A1	Likely benign	-1	RCV002720342;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801193	75801193	NC_000006.11:g.75801193T>A	-
NM_004370.6(COL12A1):c.8685+8T>C	1303	COL12A1	Likely benign	763115734	RCV001461756;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801198	75801198	75801198	-
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly)	1303	COL12A1	Uncertain significance	1767765917	RCV001300664;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801219	75801219	75801219	-
NM_004370.6(COL12A1):c.8671G>A (p.Glu2891Lys)	1303	COL12A1	Uncertain significance	1381259753	RCV001351143;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801220	75801220	75801220	-
NM_004370.6(COL12A1):c.8655A>C (p.Pro2885=)	1303	COL12A1	Likely benign	751804493	RCV001448726;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801236	75801236	75801236	-
NM_004370.6(COL12A1):c.8650-19T>A	1303	COL12A1	Benign	79461746	RCV000253553\|RCV002058161;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75801260	75801260	NC_000006.11:g.75801260A>T	ClinGen:CA3892171	CN169374 not specified;
NM_004370.6(COL12A1):c.8650-19T>C	1303	COL12A1	Likely benign	-1	RCV002932927;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801260	75801260	NC_000006.11:g.75801260A>G	-
NM_004370.6(COL12A1):c.8650-20A>C	1303	COL12A1	Likely benign	1281657456	RCV002205431;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75801261	75801261	75801261	-
NM_004370.6(COL12A1):c.8649+13C>A	1303	COL12A1	Likely benign	-1	RCV002866674;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804811	75804811	NC_000006.11:g.75804811G>T	-
NM_004370.6(COL12A1):c.8649+7G>A	1303	COL12A1	Likely benign	1274498192	RCV002129888;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804817	75804817	75804817	-
NM_004370.6(COL12A1):c.8649+6C>T	1303	COL12A1	Uncertain significance	1037107431	RCV002050507;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804818	75804818	75804818	-
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)	1303	COL12A1	Uncertain significance	900917198	RCV001241833;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804824	75804824	6:g.75804824T>G	-
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=)	1303	COL12A1	Uncertain significance	900917198	RCV002044679;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804824	75804824	75804824	-
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)	1303	COL12A1	Uncertain significance	1767942315	RCV001208065;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804830	75804830	6:g.75804830G>A	-
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	185171880	RCV000542800\|RCV001584355\|RCV002527917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75804834	75804834	6:g.75804834T>C	ClinGen:CA3892185	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=)	1303	COL12A1	Benign/Likely benign	368321891	RCV000532598\|RCV001571666;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75804851	75804851	NC_000006.11:g.75804851T>C	ClinGen:CA3892186	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)	1303	COL12A1	Uncertain significance	-1	RCV002717093;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804862	75804862	NC_000006.11:g.75804862T>G	-
NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	751638930	RCV001894262\|RCV003146270;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75804864	75804864	75804864	-
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)	1303	COL12A1	Likely benign	-1	RCV002917561;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804865	75804865	NC_000006.11:g.75804865G>C	-
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg)	1303	COL12A1	Uncertain significance	1554167424	RCV000519459\|RCV002525237;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804868	75804868	6:g.75804868C>T	ClinGen:CA364737063	CN169374 not specified;
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala)	1303	COL12A1	Uncertain significance	2149333527	RCV002025487;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804871	75804871	75804871	-
NM_004370.6(COL12A1):c.8592C>G (p.Ser2864=)	1303	COL12A1	Likely benign	372700355	RCV000877341;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804881	75804881	6:g.75804881G>C	-
NM_004370.6(COL12A1):c.8583C>T (p.Ser2861=)	1303	COL12A1	Likely benign	189999387	RCV001426351;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804890	75804890	75804890	-
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn)	1303	COL12A1	Benign	148065232	RCV000875978\|RCV001692310;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75804891	75804891	6:g.75804891C>T	-
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)	1303	COL12A1	Uncertain significance	758378155	RCV000801064;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804894	75804894	6:g.75804894C>G	-
NM_004370.6(COL12A1):c.8578-4G>A	1303	COL12A1	Likely benign	780000164	RCV000893039;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804899	75804899	6:g.75804899C>T	-
NM_004370.6(COL12A1):c.8578-8T>C	1303	COL12A1	Likely benign	2149333586	RCV001475859;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75804903	75804903	75804903	-
NC_000006.11:g.(?_75806949)_(75807042_?)del	1303	COL12A1	Uncertain significance	-1	RCV002023094;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806949	75807042	-1	-
NM_004370.6(COL12A1):c.8577+14G>A	1303	COL12A1	Likely benign	775776703	RCV002091705;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806955	75806955	75806955	-
NM_004370.6(COL12A1):c.8577+4A>G	1303	COL12A1	Uncertain significance	1562105188	RCV000821469;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806965	75806965	6:g.75806965T>C	-
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)	1303	COL12A1	Uncertain significance	1768087709	RCV001058482;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806969	75806969	6:g.75806969C>T	-
NM_004370.6(COL12A1):c.8574G>A (p.Pro2858=)	1303	COL12A1	Likely benign	-1	RCV002934054;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806972	75806972		-
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg)	1303	COL12A1	Uncertain significance	574147225	RCV001874263;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806979	75806979	75806979	-
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=)	1303	COL12A1	Benign	202239067	RCV001521388;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75806981	75806981	NC_000006.11:g.75806981T>C	ClinGen:CA3892215	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8563C>T (p.Pro2855Ser)	1303	COL12A1	Uncertain significance	1226171594	RCV001362991\|RCV003145617;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75806983	75806983	75806983	-
NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	200375837	RCV001036304\|RCV003148915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75806992	75806992	6:g.75806992G>A	-
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	369104842	RCV000690474\|RCV003144506;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75806998	75806998	NC_000006.11:g.75806998T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8532T>A (p.Thr2844=)	1303	COL12A1	Likely benign	-1	RCV002816640;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75807014	75807014		-
NM_004370.6(COL12A1):c.8524-3T>C	1303	COL12A1	Uncertain significance	755782718	RCV000686183;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75807025	75807025	NC_000006.11:g.75807025A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8524-3T>G	1303	COL12A1	Uncertain significance	-1	RCV003027796;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75807025	75807025	NC_000006.11:g.75807025A>C	-
NM_004370.6(COL12A1):c.8524-12dup	1303	COL12A1	Likely benign	1261200705	RCV001505201;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75807029	75807030	75807029	-
NM_004370.6(COL12A1):c.8524-15dup	1303	COL12A1	Likely benign	2149337428	RCV002195270;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75807036	75807037	75807036	-
NM_004370.6(COL12A1):c.8523+18G>C	1303	COL12A1	Likely benign	202002189	RCV002206470;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811298	75811298	75811298	-
NM_004370.6(COL12A1):c.8523+16C>T	1303	COL12A1	Likely benign	751486526	RCV002009931;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811300	75811300	75811300	-
NM_004370.6(COL12A1):c.8523+11T>C	1303	COL12A1	Likely benign	370728186	RCV002130846;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75811305	75811305	75811305	-
NM_004370.6(COL12A1):c.8523+8T>C	1303	COL12A1	Likely benign	752217139	RCV002201647;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811308	75811308	75811308	-
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)	1303	COL12A1	Uncertain significance	-1	RCV002730312;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811329	75811329	NC_000006.11:g.75811329G>A	-
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)	1303	COL12A1	Uncertain significance	-1	RCV003042748;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811335	75811335	NC_000006.11:g.75811335A>C	-
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)	1303	COL12A1	Uncertain significance	199693016	RCV000707655;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811338	75811338	NC_000006.11:g.75811338G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8495C>G (p.Pro2832Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	779184954	RCV000696972\|RCV003144536;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75811344	75811344	NC_000006.11:g.75811344G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser)	1303	COL12A1	Uncertain significance	376931672	RCV001309606;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811345	75811345	75811345	-
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser)	1303	COL12A1	Uncertain significance	2149343047	RCV001871360;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811348	75811348	75811348	-
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)	1303	COL12A1	Uncertain significance	-1	RCV002604578;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75811353	75811353	NC_000006.11:g.75811353G>T	-
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)	1303	COL12A1	Uncertain significance	1280191331	RCV000543836\|RCV003144365;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75811365	75811365	6:g.75811365G>T	ClinGen:CA364739095	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8470-3C>A	1303	COL12A1	Uncertain significance	1169467662	RCV001369928\|RCV003145637;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75811372	75811372	75811372	-
NM_004370.6(COL12A1):c.8470-4G>T	1303	COL12A1	Likely benign	-1	RCV002701407;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811373	75811373	NC_000006.11:g.75811373C>A	-
NM_004370.6(COL12A1):c.8470-5T>G	1303	COL12A1	Likely benign	776830409	RCV002108128;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811374	75811374	75811374	-
NM_004370.6(COL12A1):c.8470-12C>T	1303	COL12A1	Likely benign	-1	RCV003068657;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811381	75811381	NC_000006.11:g.75811381G>A	-
NM_004370.6(COL12A1):c.8469+20G>T	1303	COL12A1	Likely benign	1768324536	RCV002157160;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811695	75811695	75811695	-
NM_004370.6(COL12A1):c.8469+14T>C	1303	COL12A1	Likely benign	370535727	RCV002188511;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811701	75811701	75811701	-
NM_004370.6(COL12A1):c.8469+10T>C	1303	COL12A1	Likely benign	375332527	RCV000952480;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811705	75811705	6:g.75811705A>G	-
NM_004370.6(COL12A1):c.8469+9G>T	1303	COL12A1	Benign	-1	RCV003069505;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811706	75811706	NC_000006.11:g.75811706C>A	-
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)	1303	COL12A1	Uncertain significance	-1	RCV003115105;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811716	75811716	NC_000006.11:g.75811716G>A	-
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln)	1303	COL12A1	Uncertain significance	756809634	RCV000696845;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811719	75811719	NC_000006.11:g.75811719C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)	1303	COL12A1	Uncertain significance	368105517	RCV001042644\|RCV002254948;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75811743	75811743	6:g.75811743G>C	-
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=)	1303	COL12A1	Benign/Likely benign	371949188	RCV000533365\|RCV001564217;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75811763	75811763	NC_000006.11:g.75811763G>A	ClinGen:CA3892268	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)	1303	COL12A1	Conflicting interpretations of pathogenicity	186328815	RCV000652941\|RCV002251492\|RCV002534187;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75811764	75811764	NC_000006.11:g.75811764C>T	ClinGen:CA3892269	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8419C>T (p.Arg2807Cys)	1303	COL12A1	Likely benign	-1	RCV003050153;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75811765	75811765	NC_000006.11:g.75811765G>A	-
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys)	1303	COL12A1	Uncertain significance	2149343509	RCV001948783;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811768	75811768	75811768	-
NM_004370.6(COL12A1):c.8416-8C>A	1303	COL12A1	Likely benign	775559307	RCV001451230;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811776	75811776	6:g.75811776G>T	-
NM_004370.6(COL12A1):c.8416-14A>G	1303	COL12A1	Benign	202033555	RCV002102184;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811782	75811782	75811782	-
NM_004370.6(COL12A1):c.8416-17C>T	1303	COL12A1	Likely benign	-1	RCV002894231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75811785	75811785	NC_000006.11:g.75811785G>A	-
NM_004370.6(COL12A1):c.8415+18C>T	1303	COL12A1	Likely benign	-1	RCV003068341;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812295	75812295	NC_000006.11:g.75812295G>A	-
NM_004370.6(COL12A1):c.8415+17T>C	1303	COL12A1	Likely benign	2149344172	RCV002076224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812296	75812296	75812296	-
NM_004370.6(COL12A1):c.8415+13C>T	1303	COL12A1	Likely benign	2149344182	RCV002079584;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812300	75812300	75812300	-
NM_004370.6(COL12A1):c.8415+12G>A	1303	COL12A1	Likely benign	2149344185	RCV002210333;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812301	75812301	75812301	-
NM_004370.6(COL12A1):c.8415+2dup	1303	COL12A1	Uncertain significance	-1	RCV002853280;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812310	75812311	NC_000006.11:g.75812311dup	-
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp)	1303	COL12A1	Uncertain significance	1768356411	RCV002051071;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812316	75812316	75812316	-
NM_004370.6(COL12A1):c.8406G>A (p.Pro2802=)	1303	COL12A1	Likely benign	761216954	RCV001222523\|RCV001712886;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75812322	75812322	6:g.75812322C>T	-
NM_004370.6(COL12A1):c.8405C>T (p.Pro2802Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	200646131	RCV000555051\|RCV001561722;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75812323	75812323	6:g.75812323G>A	ClinGen:CA3892294	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)	1303	COL12A1	Uncertain significance	-1	RCV002760987;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812335	75812335	NC_000006.11:g.75812335C>A	-
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg)	1303	COL12A1	Uncertain significance	1582050802	RCV000821050\|RCV001776041;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75812336	75812336	6:g.75812336C>T	-
NM_004370.6(COL12A1):c.8390A>G (p.Asn2797Ser)	1303	COL12A1	Uncertain significance	766046177	RCV001203528;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812338	75812338	6:g.75812338T>C	-
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)	1303	COL12A1	Uncertain significance	-1	RCV003107328\|RCV003143588;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75812341	75812341	NC_000006.11:g.75812341G>A	-
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1])	1303	COL12A1	Uncertain significance	1562116272	RCV000702065;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812350	75812367	NC_000006.11:g.75812364_75812381del	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp)	1303	COL12A1	Uncertain significance	1768358751	RCV001876461;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812353	75812353	75812353	-
NM_004370.6(COL12A1):c.8370T>C (p.Pro2790=)	1303	COL12A1	Likely benign	553998601	RCV002078998;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812358	75812358	75812358	-
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu)	1303	COL12A1	Uncertain significance	755342579	RCV000540026;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812359	75812359	6:g.75812359G>A	ClinGen:CA3892298	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser)	1303	COL12A1	Uncertain significance	1582050849	RCV001956595;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812360	75812360	75812360	-
NM_004370.6(COL12A1):c.8367T>G (p.Gly2789=)	1303	COL12A1	Likely benign	-1	RCV002880274;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812361	75812361		-
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)	1303	COL12A1	Uncertain significance	-1	RCV002863289;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812362	75812363	NC_000006.11:g.75812362_75812363insTGGAGG	-
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	1768359621	RCV001555562\|RCV001220502\|RCV002290644;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812363	75812363	6:g.75812363C>G	-
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)	1303	COL12A1	Uncertain significance	-1	RCV002863295;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812368	75812368	NC_000006.11:g.75812368G>A	-
NM_004370.6(COL12A1):c.8358C>T (p.Gly2786=)	1303	COL12A1	Likely benign	767957084	RCV001929550;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812370	75812370	75812370	-
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu)	1303	COL12A1	Uncertain significance	1160043441	RCV002038564\|RCV002509748;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75812374	75812374	75812374	-
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)	1303	COL12A1	Uncertain significance	997353607	RCV001067752\|RCV003145334;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75812377	75812377	6:g.75812377G>A	-
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)	1303	COL12A1	Conflicting interpretations of pathogenicity	190917891	RCV000702920\|RCV003144560;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75812392	75812392	NC_000006.11:g.75812392C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)	1303	COL12A1	Uncertain significance	-1	RCV002711729\|RCV003146614;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75812392	75812392	NC_000006.11:g.75812392C>G	-
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys)	1303	COL12A1	Uncertain significance	1768362148	RCV001997294;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812393	75812393	75812393	-
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu)	1303	COL12A1	Uncertain significance	1768363108	RCV001296924;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812407	75812407	75812407	-
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)	1303	COL12A1	Uncertain significance	1768363255	RCV001235445;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812408	75812408	6:g.75812408C>A	-
NM_004370.6(COL12A1):c.8320-12del	1303	COL12A1	Likely benign	1436326715	RCV002185955;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812420	75812420	75812419	-
NM_004370.6(COL12A1):c.8320-16C>G	1303	COL12A1	Likely benign	-1	RCV002953114;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812424	75812424	NC_000006.11:g.75812424G>C	-
NM_004370.6(COL12A1):c.8320-19T>C	1303	COL12A1	Benign	369006332	RCV002075412;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75812427	75812427	75812427	-
NM_004370.6(COL12A1):c.8319+17G>A	1303	COL12A1	Likely benign	-1	RCV002705872;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813456	75813456	NC_000006.11:g.75813456C>T	-
NM_004370.6(COL12A1):c.8319+16_8319+17del	1303	COL12A1	Likely benign	-1	RCV002904288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813456	75813457	NC_000006.11:g.75813456CT[1]	-
NM_004370.6(COL12A1):c.8319+5G>A	1303	COL12A1	Uncertain significance	-1	RCV003226039;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813468	75813468		-
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val)	1303	COL12A1	Uncertain significance	1254845133	RCV001895855;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813475	75813475	75813475	-
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)	1303	COL12A1	Uncertain significance	1476228934	RCV002000873;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813487	75813487	75813487	-
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)	1303	COL12A1	Uncertain significance	1011310040	RCV001045870;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813502	75813502	6:g.75813502T>C	-
NM_004370.6(COL12A1):c.8286T>C (p.Gly2762=)	1303	COL12A1	Likely benign	780813814	RCV001487176;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813506	75813506	6:g.75813506A>G	-
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)	1303	COL12A1	Uncertain significance	-1	RCV003052173;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75813507	75813507	NC_000006.11:g.75813507C>A	-
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr)	1303	COL12A1	Uncertain significance	1768418483	RCV001894518;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813514	75813514	75813514	-
NM_004370.6(COL12A1):c.8277T>A (p.Gly2759=)	1303	COL12A1	Likely benign	187901672	RCV002166509\|RCV002243526;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75813515	75813515	75813515	-
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp)	1303	COL12A1	Uncertain significance	1554168599	RCV000555833;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813516	75813516	NC_000006.11:g.75813516C>T	ClinGen:CA364740195	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8266-6T>G	1303	COL12A1	Uncertain significance	-1	RCV003118051\|RCV003443164;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75813532	75813532	NC_000006.11:g.75813532A>C	-
NM_004370.6(COL12A1):c.8266-8T>C	1303	COL12A1	Likely benign	-1	RCV002590360;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75813534	75813534	NC_000006.11:g.75813534A>G	-
NM_004370.6(COL12A1):c.8266-10T>C	1303	COL12A1	Likely benign	377345950	RCV002179661;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75813536	75813536	75813536	-
NM_004370.6(COL12A1):c.8265+20T>A	1303	COL12A1	Likely benign	-1	RCV003023598;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814902	75814902	NC_000006.11:g.75814902A>T	-
NM_004370.6(COL12A1):c.8265+19A>T	1303	COL12A1	Benign	9447445	RCV000246788\|RCV001683043\|RCV002058160;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75814903	75814903	NC_000006.11:g.75814903T>A	ClinGen:CA3892336	CN169374 not specified;
NM_004370.6(COL12A1):c.8265+11T>C	1303	COL12A1	Likely benign	775543292	RCV002126525;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814911	75814911	75814911	-
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)	1303	COL12A1	Uncertain significance	1768489455	RCV001320132;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814933	75814933	75814933	-
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala)	1303	COL12A1	Uncertain significance	1582055239	RCV000798444;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814938	75814938	6:g.75814938C>G	-
NM_004370.6(COL12A1):c.8244T>C (p.Pro2748=)	1303	COL12A1	Likely benign	-1	RCV003006509;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75814943	75814943		-
NM_004370.6(COL12A1):c.8238T>C (p.Val2746=)	1303	COL12A1	Likely benign	555905349	RCV002101592;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814949	75814949	75814949	-
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala)	1303	COL12A1	Benign/Likely benign	34369939	RCV000243249\|RCV000443247\|RCV001082408;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814950	75814950	NC_000006.11:g.75814950A>G	ClinGen:CA3892339	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)	1303	COL12A1	Uncertain significance	-1	RCV002985465;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75814951	75814951	NC_000006.11:g.75814951C>T	-
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)	1303	COL12A1	Uncertain significance	-1	RCV003325632;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814952	75814952		-
NM_004370.6(COL12A1):c.8232C>T (p.Asp2744=)	1303	COL12A1	Likely benign	1582055336	RCV001425279;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814955	75814955	6:g.75814955G>A	-
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)	1303	COL12A1	Uncertain significance	-1	RCV002582225;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814957	75814957	NC_000006.11:g.75814957C>G	-
NM_004370.6(COL12A1):c.8211T>C (p.Asn2737=)	1303	COL12A1	Likely benign	-1	RCV003033412;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75814976	75814976		-
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg)	1303	COL12A1	Uncertain significance	1768494060	RCV001350588;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75814989	75814989	75814989	-
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)	1303	COL12A1	Uncertain significance	-1	RCV002308905\|RCV003099129;	N	MedGen:CN517202\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75814998	75814998	75814998	-
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	200693552	RCV000875251\|RCV001534372;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75815002	75815002	6:g.75815002C>T	-
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)	1303	COL12A1	Uncertain significance	749287325	RCV001300270\|RCV002541920\|RCV003145526;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75815004	75815004	75815004	-
NM_004370.6(COL12A1):c.8179-10A>G	1303	COL12A1	Benign/Likely benign	142509363	RCV000652944\|RCV001548491;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75815018	75815018	NC_000006.11:g.75815018T>C	ClinGen:CA3892351	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8179-12T>C	1303	COL12A1	Likely benign	-1	RCV002582285;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75815020	75815020	NC_000006.11:g.75815020A>G	-
NM_004370.6(COL12A1):c.8179-15T>C	1303	COL12A1	Likely benign	-1	RCV003121380;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75815023	75815023	NC_000006.11:g.75815023A>G	-
NM_004370.6(COL12A1):c.8179-20T>C	1303	COL12A1	Likely benign	-1	RCV002938513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75815028	75815028	NC_000006.11:g.75815028A>G	-
NM_004370.6(COL12A1):c.8178+6T>C	1303	COL12A1	Uncertain significance	-1	RCV002812140;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816129	75816129	NC_000006.11:g.75816129A>G	-
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)	1303	COL12A1	Uncertain significance	1768547356	RCV001221446;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816135	75816135	6:g.75816135C>T	-
NM_004370.6(COL12A1):c.8169T>G (p.Ile2723Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002770281\|RCV003146626;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75816144	75816144	NC_000006.11:g.75816144A>C	-
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)	1303	COL12A1	Benign	-1	RCV002917235;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816177	75816177		-
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)	1303	COL12A1	Benign	-1	RCV002996231;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75816180	75816180		-
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)	1303	COL12A1	Uncertain significance	1768550579	RCV001331213;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816181	75816181	75816181	-
NM_004370.6(COL12A1):c.8130C>T (p.Cys2710=)	1303	COL12A1	Likely benign	1768550709	RCV002152916;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816183	75816183	75816183	-
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)	1303	COL12A1	Uncertain significance	1768551206	RCV001056473;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816194	75816194	6:g.75816194C>A	-
NM_004370.6(COL12A1):c.8101-16T>C	1303	COL12A1	Likely benign	757858823	RCV002140102;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75816228	75816228	75816228	-
NM_004370.6(COL12A1):c.8100+16T>A	1303	COL12A1	Likely benign	201476445	RCV002085048;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818718	75818718	75818718	-
NM_004370.6(COL12A1):c.8100+14T>A	1303	COL12A1	Likely benign	750417570	RCV002084597;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818720	75818720	75818720	-
NM_004370.6(COL12A1):c.8100+5G>T	1303	COL12A1	Uncertain significance	-1	RCV002572883;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818729	75818729	NC_000006.11:g.75818729C>A	-
NM_004370.6(COL12A1):c.8100+4A>T	1303	COL12A1	Uncertain significance	2149352934	RCV001905817;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818730	75818730	75818730	-
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)	1303	COL12A1	Uncertain significance	-1	RCV002886040\|RCV003146656;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75818736	75818736	NC_000006.11:g.75818736C>T	-
NM_004370.6(COL12A1):c.8097C>T (p.Ala2699=)	1303	COL12A1	Likely benign	367966608	RCV001425670;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818737	75818737	75818737	-
NM_004370.6(COL12A1):c.8082G>C (p.Gly2694=)	1303	COL12A1	Likely benign	2149352990	RCV002172678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818752	75818752	75818752	-
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe)	1303	COL12A1	Uncertain significance	1391973492	RCV000520496\|RCV000526132;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818775	75818775	6:g.75818775T>A	ClinGen:CA364741539	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His)	1303	COL12A1	Uncertain significance	2149353031	RCV001904679;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818781	75818781	75818781	-
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)	1303	COL12A1	Uncertain significance	1167733175	RCV001038328;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818794	75818794	6:g.75818794T>C	-
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)	1303	COL12A1	Uncertain significance	-1	RCV003002003\|RCV003367934;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75818801	75818801	NC_000006.11:g.75818801C>T	-
NM_004370.6(COL12A1):c.8025G>A (p.Lys2675=)	1303	COL12A1	Likely benign	2149353076	RCV002141133;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818809	75818809	75818809	-
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met)	1303	COL12A1	Uncertain significance	536679905	RCV001959835\|RCV002560742;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75818812	75818812	75818812	-
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val)	1303	COL12A1	Uncertain significance	1199162597	RCV001351606;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818814	75818814	75818814	-
NM_004370.6(COL12A1):c.8019C>T (p.Asp2673=)	1303	COL12A1	Likely benign	-1	RCV002825580;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818815	75818815		-
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)	1303	COL12A1	Uncertain significance	-1	RCV002962622;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75818826	75818826	NC_000006.11:g.75818826T>C	-
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His)	1303	COL12A1	Uncertain significance	1324430356	RCV002043544;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818835	75818835	75818835	-
NM_004370.6(COL12A1):c.7990A>G (p.Ile2664Val)	1303	COL12A1	Likely benign	41266763	RCV000547820\|RCV001544739;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75818844	75818844	6:g.75818844T>C	ClinGen:CA3892398	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln)	1303	COL12A1	Uncertain significance	1768709126	RCV001351258;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818853	75818853	75818853	-
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr)	1303	COL12A1	Uncertain significance	773855825	RCV001891185;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818858	75818858	75818858	-
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)	1303	COL12A1	Uncertain significance	-1	RCV003092345\|RCV003143483;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75818880	75818880	NC_000006.11:g.75818880G>A	-
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)	1303	COL12A1	Uncertain significance	1347122880	RCV001053417;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818883	75818883	6:g.75818883C>A	-
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)	1303	COL12A1	Uncertain significance	-1	RCV002805500;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75818883	75818883	NC_000006.11:g.75818883C>T	-
NM_004370.6(COL12A1):c.7951-14_7951-13del	1303	COL12A1	Likely benign	745783404	RCV002110708;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75818896	75818897	75818895	-
NM_004370.6(COL12A1):c.7950+20T>G	1303	COL12A1	Likely benign	752468536	RCV002114918;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822900	75822900	75822900	-
NM_004370.6(COL12A1):c.7950+18T>G	1303	COL12A1	Likely benign	141529820	RCV002134650;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822902	75822902	75822902	-
NM_004370.6(COL12A1):c.7950+10_7950+11del	1303	COL12A1	Likely benign	762026995	RCV002113002;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822909	75822910	75822908	-
NM_004370.6(COL12A1):c.7950+9A>G	1303	COL12A1	Uncertain significance	778327157	RCV001899905;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822911	75822911	75822911	-
NM_004370.6(COL12A1):c.7950+5A>T	1303	COL12A1	Uncertain significance	771300269	RCV001961603;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822915	75822915	75822915	-
NM_004370.6(COL12A1):c.7944T>C (p.Phe2648=)	1303	COL12A1	Likely benign	-1	RCV002785637;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75822926	75822926		-
NM_004370.6(COL12A1):c.7927T>G (p.Leu2643Val)	1303	COL12A1	Likely benign	199660424	RCV001238423;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822943	75822943	6:g.75822943A>C	-
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)	1303	COL12A1	Uncertain significance	775684324	RCV001345989;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822952	75822952	75822952	-
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del)	1303	COL12A1	Uncertain significance	1238774939	RCV001757334\|RCV003107846;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822952	75822954	75822951	-
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)	1303	COL12A1	Uncertain significance	1384761865	RCV001360108\|RCV003145610;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75822955	75822955	75822955	-
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	200408101	RCV000251433\|RCV000541900\|RCV001764233\|RCV002252066;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900\|	6	75822972	75822972	NC_000006.11:g.75822972A>G	ClinGen:CA3892432	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7893A>G (p.Gln2631=)	1303	COL12A1	Likely benign	1015843320	RCV000652927;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75822977	75822977	6:g.75822977T>C	ClinGen:CA141010584	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	147044263	RCV000814443\|RCV001566822;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75822985	75822985	6:g.75822985C>T	-
NM_004370.6(COL12A1):c.7884C>T (p.Gly2628=)	1303	COL12A1	Likely benign	747657598	RCV001307828;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822986	75822986	75822986	-
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala)	1303	COL12A1	Uncertain significance	1582069073	RCV000819405;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822987	75822987	6:g.75822987C>G	-
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)	1303	COL12A1	Uncertain significance	-1	RCV003337849;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75822987	75822987		-
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)	1303	COL12A1	Uncertain significance	201337277	RCV000479137\|RCV000625820\|RCV001245032;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823001	75823001	6:g.75823001G>T	ClinGen:CA3892436	CN169374 not specified;
NM_004370.6(COL12A1):c.7869C>T (p.Asn2623=)	1303	COL12A1	Likely benign	201337277	RCV002163711;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823001	75823001	75823001	-
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)	1303	COL12A1	Uncertain significance	-1	RCV002601033;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75823003	75823003	NC_000006.11:g.75823003T>A	-
NM_004370.6(COL12A1):c.7854G>C (p.Thr2618=)	1303	COL12A1	Likely benign	190984968	RCV000652942\|RCV001577829;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75823016	75823016	NC_000006.11:g.75823016C>G	ClinGen:CA3892438	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7854G>A (p.Thr2618=)	1303	COL12A1	Likely benign	190984968	RCV001480852\|RCV001837519;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75823016	75823016	75823016	-
NM_004370.6(COL12A1):c.7853C>T (p.Thr2618Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	201988277	RCV000487682\|RCV000652916;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823017	75823017	6:g.75823017G>A	ClinGen:CA3892440	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu)	1303	COL12A1	Uncertain significance	1194345062	RCV001359454;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823029	75823029	75823029	-
NM_004370.6(COL12A1):c.7840+9T>G	1303	COL12A1	Likely benign	774128333	RCV001502707;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823309	75823309	NC_000006.11:g.75823309A>C	ClinGen:CA3892452	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser)	1303	COL12A1	Uncertain significance	772870762	RCV001945171;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75823318	75823318	75823318	-
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr)	1303	COL12A1	Uncertain significance	767580803	RCV001874695;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823326	75823326	75823326	-
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu)	1303	COL12A1	Uncertain significance	1428757896	RCV001981122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823339	75823339	75823339	-
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)	1303	COL12A1	Uncertain significance	994920789	RCV001045478;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823342	75823342	6:g.75823342G>A	-
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	200751269	RCV001239226\|RCV002305578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75823345	75823345	6:g.75823345T>G	-
NM_004370.6(COL12A1):c.7809C>T (p.Asp2603=)	1303	COL12A1	Likely benign	376582053	RCV002180687;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823349	75823349	75823349	-
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)	1303	COL12A1	Uncertain significance	1263587165	RCV001231394\|RCV003145441;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75823354	75823354	6:g.75823354T>C	-
NM_004370.6(COL12A1):c.7801G>T (p.Asp2601Tyr)	1303	COL12A1	Uncertain significance	757556640	RCV002001907\|RCV003223740;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75823357	75823357	75823357	-
NM_004370.6(COL12A1):c.7800A>G (p.Thr2600=)	1303	COL12A1	Likely benign	370691983	RCV000874532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823358	75823358	6:g.75823358T>C	-
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val)	1303	COL12A1	Benign	35710072	RCV000247894\|RCV000548640\|RCV001668501;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75823372	75823372	NC_000006.11:g.75823372T>C	ClinGen:CA3892465,UniProtKB:Q99715#VAR_048771	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)	1303	COL12A1	Uncertain significance	-1	RCV002755376;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823375	75823375	NC_000006.11:g.75823375C>G	-
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)	1303	COL12A1	Uncertain significance	1768943469	RCV001229352;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823395	75823395	6:g.75823395T>G	-
NM_004370.6(COL12A1):c.7761A>G (p.Pro2587=)	1303	COL12A1	Likely benign	1768943747	RCV001406224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823397	75823397	75823397	-
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)	1303	COL12A1	Uncertain significance	375113182	RCV001057757;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823402	75823402	6:g.75823402G>C	-
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)	1303	COL12A1	Uncertain significance	-1	RCV002736599;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823418	75823418	NC_000006.11:g.75823418T>C	-
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)	1303	COL12A1	Uncertain significance	-1	RCV003086493;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823420	75823420	NC_000006.11:g.75823420T>G	-
NM_004370.6(COL12A1):c.7734G>A (p.Thr2578=)	1303	COL12A1	Likely benign	368616942	RCV002080952;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823424	75823424	75823424	-
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)	1303	COL12A1	Uncertain significance	-1	RCV003045084;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75823425	75823425	NC_000006.11:g.75823425G>A	-
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)	1303	COL12A1	Uncertain significance	1768945805	RCV001210337;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823434	75823434	6:g.75823434G>T	-
NM_004370.6(COL12A1):c.7722T>C (p.Pro2574=)	1303	COL12A1	Likely benign	748445921	RCV002175601;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823436	75823436	75823436	-
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)	1303	COL12A1	Uncertain significance	770613686	RCV001794726\|RCV002034645;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823437	75823437	75823437	-
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)	1303	COL12A1	Uncertain significance	-1	RCV002933464;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823444	75823444	NC_000006.11:g.75823444C>T	-
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His)	1303	COL12A1	Uncertain significance	1364305836	RCV002024178;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823447	75823447	75823447	-
NM_004370.6(COL12A1):c.7702C>T (p.Leu2568=)	1303	COL12A1	Likely benign	745685013	RCV002132747;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823456	75823456	75823456	-
NM_004370.6(COL12A1):c.7701C>T (p.Asp2567=)	1303	COL12A1	Likely benign	772064054	RCV001481814;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823457	75823457	6:g.75823457G>A	-
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=)	1303	COL12A1	Uncertain significance	775579405	RCV001937394;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823460	75823460	75823460	-
NM_004370.6(COL12A1):c.7698-3C>T	1303	COL12A1	Uncertain significance	760246080	RCV001223022;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823463	75823463	6:g.75823463G>A	-
NM_004370.6(COL12A1):c.7698-6C>T	1303	COL12A1	Likely benign	1582070030	RCV001471150;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823466	75823466	6:g.75823466G>A	-
NM_004370.6(COL12A1):c.7698-10T>C	1303	COL12A1	Likely benign	-1	RCV002644137;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75823470	75823470	NC_000006.11:g.75823470A>G	-
NM_004370.6(COL12A1):c.7698-14G>T	1303	COL12A1	Likely benign	-1	RCV002861897;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823474	75823474	NC_000006.11:g.75823474C>A	-
NM_004370.6(COL12A1):c.7698-19_7698-15del	1303	COL12A1	Benign/Likely benign	141102808	RCV000243155\|RCV001582860\|RCV002058159;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823475	75823479	NC_000006.11:g.75823478_75823482del	ClinGen:CA3892477	CN169374 not specified;
NM_004370.6(COL12A1):c.7698-18_7698-15del	1303	COL12A1	Likely benign	-1	RCV003062944;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75823475	75823478	NC_000006.11:g.75823475_75823478del	-
NM_004370.6(COL12A1):c.7697+18_7697+20del	1303	COL12A1	Likely benign	-1	RCV002857344;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825480	75825482	NC_000006.11:g.75825480CCT[1]	-
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)	1303	COL12A1	Uncertain significance	780133855	RCV001035964\|RCV003145259;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75825500	75825500	6:g.75825500G>A	-
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)	1303	COL12A1	Uncertain significance	-1	RCV002993660\|RCV003146707;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75825504	75825504	NC_000006.11:g.75825504T>C	-
NM_004370.6(COL12A1):c.7690C>T (p.Pro2564Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	199724285	RCV000652929\|RCV001775942;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75825507	75825507	6:g.75825507G>A	ClinGen:CA3892499	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7677G>A (p.Ala2559=)	1303	COL12A1	Likely benign	373585140	RCV001414914;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825520	75825520	75825520	-
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val)	1303	COL12A1	Uncertain significance	761234963	RCV000521873\|RCV002527610;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825521	75825521	6:g.75825521G>A	ClinGen:CA3892501	CN169374 not specified;
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)	1303	COL12A1	Benign	-1	RCV002582702;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825523	75825523		-
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)	1303	COL12A1	Uncertain significance	1302611725	RCV001973833\|RCV003146433;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75825537	75825537	75825537	-
NM_004370.6(COL12A1):c.7656A>G (p.Ala2552=)	1303	COL12A1	Likely benign	763305624	RCV000932117;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825541	75825541	6:g.75825541T>C	-
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)	1303	COL12A1	Uncertain significance	-1	RCV002834071;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825564	75825564	NC_000006.11:g.75825564C>A	-
NM_004370.6(COL12A1):c.7620A>T (p.Val2540=)	1303	COL12A1	Likely benign	-1	RCV002675996;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825577	75825577		-
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala)	1303	COL12A1	Uncertain significance	942074618	RCV002015167;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825578	75825578	75825578	-
NM_004370.6(COL12A1):c.7617A>G (p.Gly2539=)	1303	COL12A1	Likely benign	2149361397	RCV001443578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825580	75825580	75825580	-
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)	1303	COL12A1	Uncertain significance	-1	RCV002635688;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75825582	75825582	NC_000006.11:g.75825582C>T	-
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)	1303	COL12A1	Uncertain significance	-1	RCV002834941;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825584	75825584	NC_000006.11:g.75825584T>G	-
NM_004370.6(COL12A1):c.7608T>G (p.Ser2536=)	1303	COL12A1	Likely benign	778124838	RCV002167142;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825589	75825589	75825589	-
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)	1303	COL12A1	Uncertain significance	-1	RCV003081224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825594	75825594	NC_000006.11:g.75825594C>A	-
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser)	1303	COL12A1	Uncertain significance	1769052516	RCV001899322;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825596	75825596	75825596	-
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)	1303	COL12A1	Uncertain significance	-1	RCV002922479;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825603	75825603	NC_000006.11:g.75825603T>C	-
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys)	1303	COL12A1	Uncertain significance	2149361441	RCV001954650;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825613	75825613	75825613	-
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)	1303	COL12A1	Uncertain significance	1168175119	RCV001204846;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825614	75825614	6:g.75825614T>C	-
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)	1303	COL12A1	Uncertain significance	1769053374	RCV001056341;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825620	75825621	NC_000006.11:g.75825620_75825621delinsAA	-
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile)	1303	COL12A1	Uncertain significance	371624564	RCV000693790;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825628	75825628	NC_000006.11:g.75825628C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7560T>C (p.Gly2520=)	1303	COL12A1	Likely benign	2149361484	RCV002212673;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825637	75825637	75825637	-
NM_004370.6(COL12A1):c.7559-6G>A	1303	COL12A1	Likely benign	-1	RCV002637430;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75825644	75825644	NC_000006.11:g.75825644C>T	-
NM_004370.6(COL12A1):c.7558+17T>C	1303	COL12A1	Likely benign	1323169221	RCV002111885;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825718	75825718	75825718	-
NM_004370.6(COL12A1):c.7558+16T>C	1303	COL12A1	Likely benign	754091668	RCV002084268;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825719	75825719	75825719	-
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)	1303	COL12A1	Uncertain significance	1468041100	RCV001227297;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825743	75825743	6:g.75825743G>C	-
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)	1303	COL12A1	Uncertain significance	-1	RCV002805258;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75825747	75825747	NC_000006.11:g.75825747A>G	-
NM_004370.6(COL12A1):c.7541A>G (p.Asp2514Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	202109365	RCV000689507\|RCV000998648;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75825752	75825752	6:g.75825752T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7525C>G (p.Pro2509Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002462487\|RCV003103128;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825768	75825768	NC_000006.11:g.75825768G>C	-
NM_004370.6(COL12A1):c.7524T>C (p.Cys2508=)	1303	COL12A1	Likely benign	755597191	RCV001419753;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825769	75825769	75825769	-
NM_004370.6(COL12A1):c.7520-4G>A	1303	COL12A1	Likely benign	-1	RCV003078365;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825777	75825777	NC_000006.11:g.75825777C>T	-
NM_004370.6(COL12A1):c.7520-17A>G	1303	COL12A1	Likely benign	770500462	RCV002169177;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75825790	75825790	75825790	-
NM_004370.6(COL12A1):c.7519+18T>A	1303	COL12A1	Likely benign	-1	RCV002999777;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827080	75827080	NC_000006.11:g.75827080A>T	-
NM_004370.6(COL12A1):c.7519+17A>G	1303	COL12A1	Likely benign	2149363447	RCV002093430;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827081	75827081	75827081	-
NM_004370.6(COL12A1):c.7519+6T>C	1303	COL12A1	Uncertain significance	2149363457	RCV001898466;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827092	75827092	75827092	-
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)	1303	COL12A1	Uncertain significance	1470111741	RCV001201705;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827120	75827120	6:g.75827120A>C	-
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)	1303	COL12A1	Uncertain significance	-1	RCV002297984;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827124	75827124	75827124	-
NM_004370.6(COL12A1):c.7491T>C (p.Ile2497=)	1303	COL12A1	Likely benign	1157317368	RCV002135094;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827126	75827126	75827126	-
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)	1303	COL12A1	Uncertain significance	1228621705	RCV001262340\|RCV003145499;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75827127	75827127	6:g.75827127A>G	-
NM_004370.6(COL12A1):c.7488T>G (p.Leu2496=)	1303	COL12A1	Likely benign	2149363505	RCV002213688;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827129	75827129	75827129	-
NM_004370.6(COL12A1):c.7485T>A (p.Asn2495Lys)	1303	COL12A1	Likely benign	777688811	RCV001316086;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827132	75827132	75827132	-
NM_004370.6(COL12A1):c.7477G>A (p.Glu2493Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	372985511	RCV000444377\|RCV000652906;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827140	75827140	6:g.75827140C>T	ClinGen:CA3892555	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7476C>T (p.Ile2492=)	1303	COL12A1	Likely benign	895079123	RCV002159877;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827141	75827141	75827141	-
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	199633490	RCV001730144\|RCV002538698;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827145	75827145	75827145	-
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)	1303	COL12A1	Uncertain significance	1769137471	RCV001216946;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827157	75827157	6:g.75827157T>G	-
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)	1303	COL12A1	Uncertain significance	-1	RCV003031256;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827163	75827163	NC_000006.11:g.75827163T>A	-
NM_004370.6(COL12A1):c.7452C>T (p.Asp2484=)	1303	COL12A1	Likely benign	778626937	RCV001436728;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827165	75827165	75827165	-
NM_004370.6(COL12A1):c.7446T>C (p.Ile2482=)	1303	COL12A1	Likely benign	745549241	RCV001462202;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827171	75827171	75827171	-
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)	1303	COL12A1	Uncertain significance	-1	RCV003121288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827171	75827171	NC_000006.11:g.75827171A>C	-
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)	1303	COL12A1	Uncertain significance	-1	RCV002599122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827172	75827172	NC_000006.11:g.75827172A>G	-
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)	1303	COL12A1	Uncertain significance	1769138600	RCV001198199\|RCV001367888;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827173	75827173	6:g.75827173T>C	-
NM_004370.6(COL12A1):c.7438G>A (p.Val2480Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	183898615	RCV001042492\|RCV003145274;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75827179	75827179	6:g.75827179C>T	-
NM_004370.6(COL12A1):c.7437C>T (p.His2479=)	1303	COL12A1	Likely benign	775670738	RCV002146987;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827180	75827180	75827180	-
NM_004370.6(COL12A1):c.7433G>A (p.Arg2478Gln)	1303	COL12A1	Likely benign	747410893	RCV001210596;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827184	75827184	6:g.75827184C>T	-
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)	1303	COL12A1	Conflicting interpretations of pathogenicity	769219928	RCV001348049\|RCV001558468\|RCV003416246;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75827185	75827185	75827185	-
NM_004370.6(COL12A1):c.7428T>C (p.Ser2476=)	1303	COL12A1	Likely benign	777334909	RCV001575273\|RCV002072256;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827189	75827189	75827189	-
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)	1303	COL12A1	Uncertain significance	-1	RCV003025709;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827220	75827220	NC_000006.11:g.75827220T>C	-
NM_004370.6(COL12A1):c.7395C>T (p.Tyr2465=)	1303	COL12A1	Likely benign	-1	RCV002781235;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827222	75827222		-
NM_004370.6(COL12A1):c.7389C>T (p.Val2463=)	1303	COL12A1	Likely benign	-1	RCV003074747;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827228	75827228		-
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)	1303	COL12A1	Uncertain significance	-1	RCV002612216;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827244	75827244	NC_000006.11:g.75827244A>G	-
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)	1303	COL12A1	Uncertain significance	2149363695	RCV002048945\|RCV003120805;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75827248	75827248	75827248	-
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)	1303	COL12A1	Uncertain significance	-1	RCV002294826;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827257	75827257	75827257	-
NM_004370.6(COL12A1):c.7359C>T (p.Phe2453=)	1303	COL12A1	Likely benign	-1	RCV003036159;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75827258	75827258		-
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)	1303	COL12A1	Uncertain significance	1224729276	RCV000821885;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827262	75827262	6:g.75827262C>A	-
NM_004370.6(COL12A1):c.7355-4G>T	1303	COL12A1	Likely benign	2149363736	RCV001503552;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75827266	75827266	75827266	-
NM_004370.6(COL12A1):c.7355-9A>G	1303	COL12A1	Benign/Likely benign	145346828	RCV000876876\|RCV001597231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75827271	75827271	6:g.75827271T>C	-
NM_004370.6(COL12A1):c.7354+10T>A	1303	COL12A1	Benign	199945254	RCV000878058;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828749	75828749	6:g.75828749A>T	-
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)	1303	COL12A1	Uncertain significance	763858637	RCV000698955\|RCV001597204;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75828775	75828775	6:g.75828775C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7331C>T (p.Ala2444Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	367980407	RCV001359003\|RCV003145609;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75828782	75828782	75828782	-
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)	1303	COL12A1	Uncertain significance	781647177	RCV001219138;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828795	75828795	6:g.75828795C>T	-
NM_004370.6(COL12A1):c.7317T>C (p.Asp2439=)	1303	COL12A1	Likely benign	2149366203	RCV002076593;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828796	75828796	75828796	-
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)	1303	COL12A1	Uncertain significance	1315131480	RCV001950381;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828806	75828806	75828806	-
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser)	1303	COL12A1	Uncertain significance	2149366214	RCV002049651;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828810	75828810	75828810	-
NM_004370.6(COL12A1):c.7302C>T (p.Asp2434=)	1303	COL12A1	Likely benign	372068116	RCV001401431;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828811	75828811	6:g.75828811G>A	-
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=)	1303	COL12A1	Benign	35551395	RCV000250958\|RCV000533861\|RCV001640530;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75828814	75828814	NC_000006.11:g.75828814C>A	ClinGen:CA3892602	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7299G>A (p.Thr2433=)	1303	COL12A1	Likely benign	35551395	RCV000559817\|RCV001591297;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75828814	75828814	6:g.75828814C>T	ClinGen:CA3892603	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met)	1303	COL12A1	Uncertain significance	1769226903	RCV001347357\|RCV001776210;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75828815	75828815	75828815	-
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)	1303	COL12A1	Uncertain significance	1769227311	RCV001324289\|RCV003145570;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75828821	75828821	75828821	-
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)	1303	COL12A1	Uncertain significance	-1	RCV003315161;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828825	75828825		-
NM_004370.6(COL12A1):c.7272T>C (p.Asn2424=)	1303	COL12A1	Likely benign	-1	RCV002900254;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828841	75828841		-
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)	1303	COL12A1	Uncertain significance	1769228699	RCV001205604;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828843	75828843	6:g.75828843T>G	-
NM_004370.6(COL12A1):c.7269G>A (p.Lys2423=)	1303	COL12A1	Likely benign	776372586	RCV000549506;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828844	75828844	6:g.75828844C>T	ClinGen:CA3892608	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)	1303	COL12A1	Uncertain significance	1769229174	RCV001051338;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828849	75828849	6:g.75828849T>C	-
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val)	1303	COL12A1	Uncertain significance	910431488	RCV001809131;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828852	75828852	75828852	-
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser)	1303	COL12A1	Uncertain significance	1290886066	RCV001847399\|RCV002543348;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828855	75828855	75828855	-
NM_004370.6(COL12A1):c.7257C>T (p.Ser2419=)	1303	COL12A1	Likely benign	554342070	RCV001397051\|RCV001553083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75828856	75828856	75828856	-
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)	1303	COL12A1	Uncertain significance	755614789	RCV001938080;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75828863	75828863	75828863	-
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)	1303	COL12A1	Uncertain significance	-1	RCV002297905;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75828881	75828881	75828881	-
NM_004370.6(COL12A1):c.7230C>T (p.Ile2410=)	1303	COL12A1	Likely benign	2149366384	RCV001447612;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828883	75828883	75828883	-
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)	1303	COL12A1	Uncertain significance	1769231502	RCV001198829;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828884	75828884	6:g.75828884A>G	-
NM_004370.6(COL12A1):c.7224G>A (p.Thr2408=)	1303	COL12A1	Likely benign	368333381	RCV001414837;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828889	75828889	75828889	-
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	141593495	RCV000534733\|RCV001509277;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75828890	75828890	6:g.75828890G>A	ClinGen:CA3892611	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)	1303	COL12A1	Uncertain significance	141593495	RCV000823005\|RCV002223957;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75828890	75828890	6:g.75828890G>C	-
NM_004370.6(COL12A1):c.7215G>A (p.Lys2405=)	1303	COL12A1	Likely benign	568748031	RCV002065570;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828898	75828898	6:g.75828898C>T	-
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)	1303	COL12A1	Uncertain significance	568748031	RCV001218152;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828898	75828898	6:g.75828898C>G	-
NM_004370.6(COL12A1):c.7211-3T>C	1303	COL12A1	Uncertain significance	766034760	RCV002024586;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828905	75828905	75828905	-
NM_004370.6(COL12A1):c.7211-11A>G	1303	COL12A1	Likely benign	-1	RCV003088347;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828913	75828913	NC_000006.11:g.75828913T>C	-
NM_004370.6(COL12A1):c.7211-16A>G	1303	COL12A1	Likely benign	-1	RCV002740806;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75828918	75828918	NC_000006.11:g.75828918T>C	-
NM_004370.6(COL12A1):c.7210+19C>G	1303	COL12A1	Likely benign	747884107	RCV002129464;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829047	75829047	75829047	-
NM_004370.6(COL12A1):c.7210+9A>G	1303	COL12A1	Likely benign	369099620	RCV001052542;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829057	75829057	6:g.75829057T>C	-
NM_004370.6(COL12A1):c.7210+4T>G	1303	COL12A1	Uncertain significance	201950823	RCV000803597;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829062	75829062	6:g.75829062A>C	-
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro)	1303	COL12A1	Uncertain significance	1769243797	RCV001314105;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829075	75829075	75829075	-
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser)	1303	COL12A1	Uncertain significance	2149366659	RCV001952730\|RCV003156363;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75829085	75829085	75829085	-
NM_004370.6(COL12A1):c.7161C>A (p.Ala2387=)	1303	COL12A1	Likely benign	2149366727	RCV002214050;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829115	75829115	75829115	-
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)	1303	COL12A1	Uncertain significance	372896052	RCV001928808;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829122	75829122	75829122	-
NM_004370.6(COL12A1):c.7152G>A (p.Lys2384=)	1303	COL12A1	Likely benign	1227090004	RCV002545956;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829124	75829124	6:g.75829124C>T	-
NM_004370.6(COL12A1):c.7146T>C (p.Asn2382=)	1303	COL12A1	Likely benign	2149366746	RCV001501173;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829130	75829130	75829130	-
NM_004370.6(COL12A1):c.7143C>T (p.Tyr2381=)	1303	COL12A1	Likely benign	2149366759	RCV001413393;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829133	75829133	75829133	-
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=)	1303	COL12A1	Benign/Likely benign	200230227	RCV000874855\|RCV001548497;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75829136	75829136	6:g.75829136C>T	-
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)	1303	COL12A1	Uncertain significance	-1	RCV002634691;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75829137	75829137	NC_000006.11:g.75829137G>A	-
NM_004370.6(COL12A1):c.7137C>T (p.Asn2379=)	1303	COL12A1	Likely benign	2149366781	RCV002208474;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829139	75829139	75829139	-
NM_004370.6(COL12A1):c.7131G>A (p.Lys2377=)	1303	COL12A1	Likely benign	1344927209	RCV002072795;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829145	75829145	75829145	-
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)	1303	COL12A1	Uncertain significance	2149366807	RCV001823510;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829152	75829152	75829152	-
NM_004370.6(COL12A1):c.7107C>T (p.Ser2369=)	1303	COL12A1	Likely benign	754178898	RCV001418377;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829169	75829169	6:g.75829169G>A	-
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)	1303	COL12A1	Uncertain significance	-1	RCV003037913;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75829189	75829189	NC_000006.11:g.75829189C>T	-
NM_004370.6(COL12A1):c.7087-3C>T	1303	COL12A1	Uncertain significance	1769248501	RCV001986416;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829192	75829192	75829192	-
NM_004370.6(COL12A1):c.7087-5T>G	1303	COL12A1	Uncertain significance	1410734553	RCV001927354;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829194	75829194	75829194	-
NM_004370.6(COL12A1):c.7087-6C>T	1303	COL12A1	Likely benign	-1	RCV003085512;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829195	75829195	NC_000006.11:g.75829195G>A	-
NM_004370.6(COL12A1):c.7087-11T>A	1303	COL12A1	Likely benign	2149366872	RCV002126044;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829200	75829200	75829200	-
NM_004370.6(COL12A1):c.7087-14A>G	1303	COL12A1	Likely benign	779399089	RCV002127981;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829203	75829203	75829203	-
NM_004370.6(COL12A1):c.7087-20C>T	1303	COL12A1	Likely benign	-1	RCV003112902;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75829209	75829209	NC_000006.11:g.75829209G>A	-
NM_004370.6(COL12A1):c.7086+44C>G	1303	COL12A1	Benign	499018	RCV001582441\|RCV001582442\|RCV001615344;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75830974	75830974	75830974	-
NM_004370.6(COL12A1):c.7086+14C>T	1303	COL12A1	Likely benign	778933089	RCV002215262;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831004	75831004	75831004	-
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp)	1303	COL12A1	Uncertain significance	1055080261	RCV000809923;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831039	75831039	6:g.75831039T>G	-
NM_004370.6(COL12A1):c.7065A>G (p.Glu2355=)	1303	COL12A1	Likely benign	1055080261	RCV002219237;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831039	75831039	75831039	-
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)	1303	COL12A1	Uncertain significance	755159927	RCV000707235;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831056	75831056	6:g.75831056C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)	1303	COL12A1	Uncertain significance	1231345150	RCV001036754;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831058	75831058	6:g.75831058G>A	-
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)	1303	COL12A1	Uncertain significance	1765717648	RCV001213036;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831059	75831059	6:g.75831059T>C	-
NM_004370.6(COL12A1):c.7038C>T (p.Ile2346=)	1303	COL12A1	Likely benign	2149369561	RCV002002877;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831066	75831066	75831066	-
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala)	1303	COL12A1	Uncertain significance	778958906	RCV000694034;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831079	75831079	NC_000006.11:g.75831079A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)	1303	COL12A1	Uncertain significance	745852751	RCV001917633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831080	75831080	75831080	-
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)	1303	COL12A1	Uncertain significance	-1	RCV002828617;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831083	75831083	NC_000006.11:g.75831083T>C	-
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser)	1303	COL12A1	Uncertain significance	1474542485	RCV001759231\|RCV001868713;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831085	75831085	75831085	-
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)	1303	COL12A1	Uncertain significance	-1	RCV002304080;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75831089	75831089	75831089	-
NM_004370.6(COL12A1):c.7011T>C (p.Asp2337=)	1303	COL12A1	Likely benign	2149369622	RCV001503146;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831093	75831093	75831093	-
NM_004370.6(COL12A1):c.7009G>A (p.Asp2337Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	772161963	RCV000804321\|RCV001759536;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75831095	75831095	6:g.75831095C>T	-
NM_004370.6(COL12A1):c.7008C>T (p.Asp2336=)	1303	COL12A1	Likely benign	377413592	RCV000875883\|RCV002285425;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75831096	75831096	6:g.75831096G>A	-
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)	1303	COL12A1	Uncertain significance	1400495680	RCV001223168;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831098	75831098	6:g.75831098C>A	-
NM_004370.6(COL12A1):c.7005G>C (p.Gly2335=)	1303	COL12A1	Likely benign	760111437	RCV001452153;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831099	75831099	75831099	-
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)	1303	COL12A1	Uncertain significance	1765722908	RCV001222324;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831119	75831119	6:g.75831119C>G	-
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)	1303	COL12A1	Uncertain significance	-1	RCV002297971;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75831121	75831121	75831121	-
NM_004370.6(COL12A1):c.6966A>G (p.Ala2322=)	1303	COL12A1	Likely benign	1364212431	RCV002130019;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831138	75831138	75831138	-
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)	1303	COL12A1	Uncertain significance	1765724096	RCV001036864;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831143	75831143	6:g.75831143T>C	-
NM_004370.6(COL12A1):c.6947-6T>C	1303	COL12A1	Likely benign	200538799	RCV000920273;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831163	75831163	6:g.75831163A>G	-
NM_004370.6(COL12A1):c.6947-6T>G	1303	COL12A1	Uncertain significance	200538799	RCV001217219;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75831163	75831163	6:g.75831163A>C	-
NM_004370.6(COL12A1):c.6947-12C>T	1303	COL12A1	Likely benign	-1	RCV002791319;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75831169	75831169	NC_000006.11:g.75831169G>A	-
NM_004370.6(COL12A1):c.6946+7_6946+8delinsGA	1303	COL12A1	Likely benign	2149372484	RCV001474273;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833038	75833039	75833038	-
NM_004370.6(COL12A1):c.6946+5G>A	1303	COL12A1	Uncertain significance	1582086058	RCV000802174;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833041	75833041	6:g.75833041C>T	-
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)	1303	COL12A1	Uncertain significance	1765839616	RCV001240372;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833046	75833046	6:g.75833046C>G	-
NM_004370.6(COL12A1):c.6941G>A (p.Arg2314Gln)	1303	COL12A1	Likely benign	374405599	RCV001930896;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833051	75833051	75833051	-
NM_004370.6(COL12A1):c.6940C>T (p.Arg2314Trp)	1303	COL12A1	Conflicting interpretations of pathogenicity	368686970	RCV000809819\|RCV003145162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75833052	75833052	6:g.75833052G>A	-
NM_004370.6(COL12A1):c.6928A>G (p.Ile2310Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	752850582	RCV000876123\|RCV001759659;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75833064	75833064	6:g.75833064T>C	-
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	55997127	RCV000652920\|RCV002307578\|RCV003389058;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833070	75833070	NC_000006.11:g.75833070G>C	ClinGen:CA3892699	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	758186176	RCV000704037;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833073	75833073	NC_000006.11:g.75833073G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg)	1303	COL12A1	Uncertain significance	1302398240	RCV001373276;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833075	75833075	75833075	-
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu)	1303	COL12A1	Uncertain significance	1302398240	RCV001799880\|RCV001869439;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833075	75833075	75833075	-
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del)	1303	COL12A1	Uncertain significance	745810321	RCV001933865;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833075	75833077	75833074	-
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser)	1303	COL12A1	Uncertain significance	1554171436	RCV000560679;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833076	75833076	6:g.75833076G>A	ClinGen:CA364728084	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)	1303	COL12A1	Uncertain significance	1765844509	RCV001220790;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833078	75833078	6:g.75833078G>A	-
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr)	1303	COL12A1	Uncertain significance	747966606	RCV001319734;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833082	75833082	75833082	-
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser)	1303	COL12A1	Uncertain significance	747966606	RCV002028614;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833082	75833082	75833082	-
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)	1303	COL12A1	Uncertain significance	780038146	RCV001225067;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833084	75833084	6:g.75833084G>C	-
NM_004370.6(COL12A1):c.6900G>A (p.Glu2300=)	1303	COL12A1	Likely benign	1194108575	RCV002084701;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833092	75833092	75833092	-
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys)	1303	COL12A1	Uncertain significance	2149372645	RCV001369309;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833094	75833094	75833094	-
NM_004370.6(COL12A1):c.6891C>T (p.Ala2297=)	1303	COL12A1	Likely benign	1189256592	RCV002088611;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833101	75833101	75833101	-
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr)	1303	COL12A1	Uncertain significance	1562162215	RCV000698324;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833103	75833103	6:g.75833103C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)	1303	COL12A1	Likely benign	1053454286	RCV001881578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833114	75833114	75833114	-
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)	1303	COL12A1	Uncertain significance	1434449708	RCV001064000;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833118	75833118	6:g.75833118C>T	-
NM_004370.6(COL12A1):c.6872-14T>C	1303	COL12A1	Likely benign	-1	RCV002790400;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833134	75833134	NC_000006.11:g.75833134A>G	-
NC_000006.11:g.(?_75833644)_(75847315_?)del	1303	COL12A1	Uncertain significance	-1	RCV003113454;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833644	75847315		-
NM_004370.6(COL12A1):c.6871+20G>T	1303	COL12A1	Likely benign	-1	RCV002996007;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833644	75833644	NC_000006.11:g.75833644C>A	-
NM_004370.6(COL12A1):c.6871+14G>A	1303	COL12A1	Likely benign	-1	RCV002612716;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833650	75833650	NC_000006.11:g.75833650C>T	-
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)	1303	COL12A1	Uncertain significance	-1	RCV002829413;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833666	75833666	NC_000006.11:g.75833666G>T	-
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)	1303	COL12A1	Uncertain significance	-1	RCV002299083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833668	75833668	75833668	-
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)	1303	COL12A1	Uncertain significance	-1	RCV002735355;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833673	75833673	NC_000006.11:g.75833673C>T	-
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)	1303	COL12A1	Uncertain significance	993593939	RCV001776894\|RCV002541081\|RCV003247022;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75833675	75833675	75833675	-
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)	1303	COL12A1	Uncertain significance	775646975	RCV000802887\|RCV003446435;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833676	75833676	6:g.75833676T>C	-
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu)	1303	COL12A1	Benign	77094372	RCV000546010\|RCV001637087;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75833687	75833687	6:g.75833687C>T	ClinGen:CA3892719	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)	1303	COL12A1	Uncertain significance	-1	RCV003047665;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833696	75833696	NC_000006.11:g.75833696T>C	-
NM_004370.6(COL12A1):c.6837C>T (p.Leu2279=)	1303	COL12A1	Likely benign	754181144	RCV002218049;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833698	75833698	75833698	-
NM_004370.6(COL12A1):c.6829C>G (p.Pro2277Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	758182752	RCV002028052\|RCV003146497;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75833706	75833706	75833706	-
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)	1303	COL12A1	Uncertain significance	-1	RCV003072885;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833720	75833720	NC_000006.11:g.75833720A>G	-
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)	1303	COL12A1	Uncertain significance	1158867383	RCV001222680;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833721	75833721	6:g.75833721C>T	-
NM_004370.6(COL12A1):c.6810C>T (p.Val2270=)	1303	COL12A1	Likely benign	1384590633	RCV001489240;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833725	75833725	75833725	-
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)	1303	COL12A1	Uncertain significance	1765882595	RCV001219202;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833727	75833727	6:g.75833727C>G	-
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)	1303	COL12A1	Uncertain significance	-1	RCV002631739;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833745	75833745	NC_000006.11:g.75833745G>A	-
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala)	1303	COL12A1	Uncertain significance	1765885022	RCV001262341;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833757	75833757	6:g.75833757T>C	-
NM_004370.6(COL12A1):c.6774C>T (p.Cys2258=)	1303	COL12A1	Likely benign	781120781	RCV002125268;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833761	75833761	75833761	-
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr)	1303	COL12A1	Uncertain significance	2149373719	RCV002022581;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833766	75833766	75833766	-
NM_004370.6(COL12A1):c.6759A>T (p.Ser2253=)	1303	COL12A1	Likely benign	1765886657	RCV002210663;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833776	75833776	75833776	-
NM_004370.6(COL12A1):c.6756A>G (p.Gly2252=)	1303	COL12A1	Uncertain significance	2149373749	RCV002037072;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833779	75833779	75833779	-
NM_004370.6(COL12A1):c.6752G>A (p.Arg2251His)	1303	COL12A1	Conflicting interpretations of pathogenicity	151324784	RCV000652952\|RCV001079350;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833783	75833783	NC_000006.11:g.75833783C>T	ClinGen:CA3892729	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)	1303	COL12A1	Uncertain significance	754290184	RCV001370323\|RCV001575072;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75833784	75833784	75833784	-
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)	1303	COL12A1	Uncertain significance	-1	RCV002296938;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833786	75833786	75833786	-
NM_004370.6(COL12A1):c.6744T>C (p.Ile2248=)	1303	COL12A1	Likely benign	1420789055	RCV002065980;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833791	75833791	6:g.75833791A>G	-
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg)	1303	COL12A1	Uncertain significance	2149373796	RCV002030178;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833802	75833802	75833802	-
NM_004370.6(COL12A1):c.6729A>C (p.Thr2243=)	1303	COL12A1	Likely benign	1765889227	RCV001445951;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833806	75833806	75833806	-
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)	1303	COL12A1	Uncertain significance	746250737	RCV001246774\|RCV003145487;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75833807	75833807	6:g.75833807G>A	-
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)	1303	COL12A1	Uncertain significance	-1	RCV003032865;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833807	75833807	NC_000006.11:g.75833807G>T	-
NM_004370.6(COL12A1):c.6726A>T (p.Gly2242=)	1303	COL12A1	Likely benign	-1	RCV002606171;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833809	75833809		-
NM_004370.6(COL12A1):c.6725-6_6725-4del	1303	COL12A1	Likely benign	2149373848	RCV002148548;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833814	75833816	75833813	-
NM_004370.6(COL12A1):c.6725-16T>C	1303	COL12A1	Likely benign	-1	RCV002806630;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833826	75833826	NC_000006.11:g.75833826A>G	-
NM_004370.6(COL12A1):c.6725-18C>A	1303	COL12A1	Likely benign	-1	RCV002786335;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75833828	75833828	NC_000006.11:g.75833828G>T	-
NM_004370.6(COL12A1):c.6724+13A>G	1303	COL12A1	Likely benign	757071502	RCV002115167;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833958	75833958	75833958	-
NM_004370.6(COL12A1):c.6724+11A>G	1303	COL12A1	Likely benign	1398653047	RCV002206787;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833960	75833960	75833960	-
NM_004370.6(COL12A1):c.6724+6T>C	1303	COL12A1	Uncertain significance	-1	RCV002848443;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833965	75833965	NC_000006.11:g.75833965A>G	-
NM_004370.6(COL12A1):c.6718G>A (p.Ala2240Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	199654252	RCV000795337\|RCV001548162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75833977	75833977	6:g.75833977C>T	-
NM_004370.6(COL12A1):c.6711A>C (p.Leu2237=)	1303	COL12A1	Likely benign	2149374132	RCV001455406;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833984	75833984	75833984	-
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro)	1303	COL12A1	Uncertain significance	1298620930	RCV001359398;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75833985	75833985	75833985	-
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe)	1303	COL12A1	Uncertain significance	1765905733	RCV001965628;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834000	75834000	75834000	-
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile)	1303	COL12A1	Uncertain significance	1257364285	RCV001876689;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834003	75834003	75834003	-
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln)	1303	COL12A1	Uncertain significance	1253362145	RCV000799313;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834012	75834012	6:g.75834012C>T	-
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)	1303	COL12A1	Uncertain significance	759202641	RCV001069472\|RCV001566195\|RCV003160572;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75834013	75834013	6:g.75834013G>A	-
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser)	1303	COL12A1	Uncertain significance	2149374223	RCV001905901;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834033	75834033	75834033	-
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu)	1303	COL12A1	Uncertain significance	1562164671	RCV000688371;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834035	75834035	6:g.75834035G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His)	1303	COL12A1	Uncertain significance	374545461	RCV000699625;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834043	75834043	NC_000006.11:g.75834043C>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)	1303	COL12A1	Uncertain significance	761964344	RCV001213393;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834048	75834048	6:g.75834048C>T	-
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)	1303	COL12A1	Uncertain significance	-1	RCV003106793;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834053	75834053	NC_000006.11:g.75834053C>G	-
NM_004370.6(COL12A1):c.6641A>G (p.Gln2214Arg)	1303	COL12A1	Likely benign	41269303	RCV000530973\|RCV001547239;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75834054	75834054	NC_000006.11:g.75834054T>C	ClinGen:CA3892758	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)	1303	COL12A1	Uncertain significance	773548520	RCV001241488;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834055	75834055	6:g.75834055G>C	-
NM_004370.6(COL12A1):c.6639C>T (p.Tyr2213=)	1303	COL12A1	Likely benign	-1	RCV003015602;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75834056	75834056		-
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)	1303	COL12A1	Uncertain significance	-1	RCV002815089;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75834060	75834060	NC_000006.11:g.75834060G>A	-
NM_004370.6(COL12A1):c.6627T>C (p.Asp2209=)	1303	COL12A1	Likely benign	1458129254	RCV001429769;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834068	75834068	75834068	-
NM_004370.6(COL12A1):c.6618T>C (p.Asn2206=)	1303	COL12A1	Likely benign	1035643006	RCV000944815;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834077	75834077	6:g.75834077A>G	-
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)	1303	COL12A1	Uncertain significance	-1	RCV003069435;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834084	75834084	NC_000006.11:g.75834084T>C	-
NM_004370.6(COL12A1):c.6609A>G (p.Leu2203=)	1303	COL12A1	Likely benign	-1	RCV003080609;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834086	75834086		-
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser)	1303	COL12A1	Uncertain significance	370244195	RCV000698627\|RCV002291692;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75834087	75834087	NC_000006.11:g.75834087A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6608-4G>A	1303	COL12A1	Conflicting interpretations of pathogenicity	374995108	RCV001504617\|RCV003145674;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75834091	75834091	75834091	-
NM_004370.6(COL12A1):c.6608-19T>C	1303	COL12A1	Likely benign	2149374329	RCV002145513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834106	75834106	75834106	-
NM_004370.6(COL12A1):c.6607+14A>T	1303	COL12A1	Likely benign	-1	RCV002862845;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834829	75834829	NC_000006.11:g.75834829T>A	-
NM_004370.6(COL12A1):c.6607+8A>G	1303	COL12A1	Likely benign	781751102	RCV002188112;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834835	75834835	75834835	-
NM_004370.6(COL12A1):c.6597A>G (p.Gln2199=)	1303	COL12A1	Uncertain significance	1442019750	RCV001059954;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834853	75834853	6:g.75834853T>C	-
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)	1303	COL12A1	Benign	117038107	RCV000557181\|RCV001573794;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75834860	75834860	6:g.75834860G>A	ClinGen:CA3892776	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)	1303	COL12A1	Uncertain significance	1765951451	RCV001210299\|RCV003145383;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75834876	75834876	6:g.75834876G>A	-
NM_004370.6(COL12A1):c.6561A>G (p.Gln2187=)	1303	COL12A1	Likely benign	763927693	RCV002011883;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834889	75834889	75834889	-
NM_004370.6(COL12A1):c.6558T>A (p.Ala2186=)	1303	COL12A1	Likely benign	1486712607	RCV002125287;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834892	75834892	75834892	-
NM_004370.6(COL12A1):c.6549T>A (p.Asn2183Lys)	1303	COL12A1	Likely benign	776701367	RCV001349131;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834901	75834901	75834901	-
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)	1303	COL12A1	Uncertain significance	368397177	RCV001228006\|RCV002563126\|RCV003145429;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75834909	75834909	6:g.75834909C>T	-
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)	1303	COL12A1	Uncertain significance	-1	RCV003038245;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834909	75834909	NC_000006.11:g.75834909C>A	-
NM_004370.6(COL12A1):c.6540C>T (p.Tyr2180=)	1303	COL12A1	Likely benign	372703375	RCV000963545;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834910	75834910	6:g.75834910G>A	-
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys)	1303	COL12A1	Uncertain significance	2149375589	RCV001370894;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834950	75834950	75834950	-
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val)	1303	COL12A1	Benign	35523808	RCV000247818\|RCV000546765\|RCV001538568;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75834971	75834971	NC_000006.11:g.75834971T>A	ClinGen:CA3892791,UniProtKB:Q99715#VAR_048770	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr)	1303	COL12A1	Uncertain significance	920759306	RCV001339019;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75834974	75834974	75834974	-
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu)	1303	COL12A1	Uncertain significance	1582089675	RCV000805842;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834975	75834975	6:g.75834975T>A	-
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu)	1303	COL12A1	Uncertain significance	1467078008	RCV001541677\|RCV002032521;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834977	75834977	75834977	-
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser)	1303	COL12A1	Uncertain significance	1582089703	RCV001348109;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75834983	75834983	75834983	-
NM_004370.6(COL12A1):c.6460+20A>G	1303	COL12A1	Likely benign	751297089	RCV002166028;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836047	75836047	75836047	-
NM_004370.6(COL12A1):c.6460+10_6460+11dup	1303	COL12A1	Likely benign	2149377067	RCV002175636;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836055	75836056	75836055	-
NM_004370.6(COL12A1):c.6460+6G>A	1303	COL12A1	Uncertain significance	-1	RCV002621432;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75836061	75836061	NC_000006.11:g.75836061C>T	-
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys)	1303	COL12A1	Uncertain significance	1469571574	RCV001307137;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836078	75836078	75836078	-
NM_004370.6(COL12A1):c.6448T>C (p.Tyr2150His)	1303	COL12A1	Conflicting interpretations of pathogenicity	200450866	RCV000532029\|RCV001569986;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75836079	75836079	NC_000006.11:g.75836079A>G	ClinGen:CA3892808	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu)	1303	COL12A1	Uncertain significance	1277921609	RCV001883972;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836082	75836082	75836082	-
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=)	1303	COL12A1	Benign	36002196	RCV000553456\|RCV001595018;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75836083	75836083	6:g.75836083T>A	ClinGen:CA3892810	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6435A>T (p.Gly2145=)	1303	COL12A1	Likely benign	757397618	RCV002184849;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836092	75836092	75836092	-
NM_004370.6(COL12A1):c.6427G>C (p.Val2143Leu)	1303	COL12A1	Uncertain significance	186836845	RCV001344574\|RCV001556940;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75836100	75836100	75836100	-
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr)	1303	COL12A1	Uncertain significance	1766015017	RCV001922964;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836103	75836103	75836103	-
NM_004370.6(COL12A1):c.6422C>T (p.Ser2141Phe)	1303	COL12A1	Likely benign	772205982	RCV001054738;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836105	75836105	6:g.75836105G>A	-
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)	1303	COL12A1	Uncertain significance	-1	RCV002586744;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836118	75836118	NC_000006.11:g.75836118C>G	-
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)	1303	COL12A1	Likely benign	769755656	RCV001909902;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75836133	75836133	75836133	-
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)	1303	COL12A1	Uncertain significance	-1	RCV002913965;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836138	75836138	NC_000006.11:g.75836138G>C	-
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)	1303	COL12A1	Uncertain significance	1402262599	RCV001928924\|RCV003146364;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75836141	75836141	75836141	-
NM_004370.6(COL12A1):c.6378C>T (p.Asp2126=)	1303	COL12A1	Likely benign	371734128	RCV001485209;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836149	75836149	6:g.75836149G>A	-
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val)	1303	COL12A1	Uncertain significance	1339963289	RCV001924292;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836157	75836157	75836157	-
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu)	1303	COL12A1	Uncertain significance	1366573056	RCV001908670\|RCV003416551;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|	6	75836169	75836169	75836169	-
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=)	1303	COL12A1	Benign/Likely benign	553575841	RCV000543279;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836182	75836182	6:g.75836182T>C	ClinGen:CA3892826	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg)	1303	COL12A1	Uncertain significance	1766019017	RCV001342680;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836184	75836184	75836184	-
NM_004370.6(COL12A1):c.6341-9T>A	1303	COL12A1	Uncertain significance	1562169801	RCV001224208;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75836195	75836195	6:g.75836195A>T	-
NM_004370.6(COL12A1):c.6340+19C>T	1303	COL12A1	Likely benign	1244591730	RCV002087811;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75837993	75837993	75837993	-
NM_004370.6(COL12A1):c.6340+12G>A	1303	COL12A1	Likely benign	749187959	RCV002194739;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838000	75838000	75838000	-
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=)	1303	COL12A1	Uncertain significance	1766115548	RCV001306544;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838013	75838013	75838013	-
NM_004370.6(COL12A1):c.6332G>A (p.Gly2111Glu)	1303	COL12A1	Uncertain significance	771019349	RCV001901154;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838020	75838020	75838020	-
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)	1303	COL12A1	Uncertain significance	-1	RCV002302120;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75838022	75838022	75838022	-
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg)	1303	COL12A1	Uncertain significance	1766116749	RCV001320780;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838027	75838027	75838027	-
NM_004370.6(COL12A1):c.6309T>C (p.Asp2103=)	1303	COL12A1	Likely benign	2149379927	RCV002157037;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838043	75838043	75838043	-
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp)	1303	COL12A1	Uncertain significance	1366474005	RCV001331211;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838057	75838057	75838057	-
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn)	1303	COL12A1	Benign/Likely benign	201567848	RCV000242628\|RCV000652936;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75838071	75838071	NC_000006.11:g.75838071G>T	ClinGen:CA3892846	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn)	1303	COL12A1	Uncertain significance	1403624483	RCV001314187;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838076	75838076	75838076	-
NM_004370.6(COL12A1):c.6276A>G (p.Lys2092=)	1303	COL12A1	Likely benign	-1	RCV003031438;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75838076	75838076		-
NM_004370.6(COL12A1):c.6256C>A (p.Gln2086Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	562076616	RCV001484814\|RCV002285486;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75838096	75838096	75838096	-
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)	1303	COL12A1	Uncertain significance	-1	RCV002833909;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838098	75838098	NC_000006.11:g.75838098A>G	-
NM_004370.6(COL12A1):c.6246G>T (p.Leu2082=)	1303	COL12A1	Likely benign	-1	RCV002991381;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75838106	75838106		-
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met)	1303	COL12A1	Uncertain significance	1766123299	RCV001319806;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838109	75838109	75838109	-
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)	1303	COL12A1	Uncertain significance	-1	RCV002671844;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838121	75838121	NC_000006.11:g.75838121T>G	-
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys)	1303	COL12A1	Uncertain significance	769518059	RCV001952883;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838122	75838122	75838122	-
NM_004370.6(COL12A1):c.6224G>A (p.Gly2075Asp)	1303	COL12A1	Conflicting interpretations of pathogenicity	754228661	RCV001055639\|RCV001786430;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75838128	75838128	6:g.75838128C>T	-
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser)	1303	COL12A1	Uncertain significance	1253942397	RCV002033568;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838129	75838129	75838129	-
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)	1303	COL12A1	Uncertain significance	-1	RCV002700642\|RCV003382922;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MeSH:D030342,MedGen:C0950123	6	75838131	75838131	NC_000006.11:g.75838131G>C	-
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala)	1303	COL12A1	Uncertain significance	1390899930	RCV000814046;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838141	75838141	6:g.75838141T>C	-
NM_004370.6(COL12A1):c.6211-4A>G	1303	COL12A1	Likely benign	762268779	RCV001458720;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838145	75838145	6:g.75838145T>C	-
NM_004370.6(COL12A1):c.6211-10T>A	1303	COL12A1	Likely benign	-1	RCV002570042;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75838151	75838151	NC_000006.11:g.75838151A>T	-
NM_004370.6(COL12A1):c.6210+20A>T	1303	COL12A1	Likely benign	377223538	RCV002083701;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839787	75839787	75839787	-
NM_004370.6(COL12A1):c.6210+16A>G	1303	COL12A1	Likely benign	-1	RCV002775549;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839791	75839791	NC_000006.11:g.75839791T>C	-
NM_004370.6(COL12A1):c.6210+13C>T	1303	COL12A1	Benign/Likely benign	139520272	RCV001550368\|RCV002072036;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839794	75839794	75839794	-
NM_004370.6(COL12A1):c.6210+10A>T	1303	COL12A1	Likely benign	-1	RCV002967677;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839797	75839797	NC_000006.11:g.75839797T>A	-
NM_004370.6(COL12A1):c.6200T>C (p.Ile2067Thr)	1303	COL12A1	Likely benign	755180015	RCV001216643;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839817	75839817	6:g.75839817A>G	-
NM_004370.6(COL12A1):c.6199A>G (p.Ile2067Val)	1303	COL12A1	Likely benign	376192452	RCV001240371;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839818	75839818	6:g.75839818T>C	-
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=)	1303	COL12A1	Benign	34619869	RCV000250872\|RCV000554496\|RCV001610646;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75839819	75839819	NC_000006.11:g.75839819T>G	ClinGen:CA3892876	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)	1303	COL12A1	Uncertain significance	1766227819	RCV001201515;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839821	75839821	6:g.75839821G>T	-
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)	1303	COL12A1	Uncertain significance	1385786827	RCV001753363\|RCV001868752\|RCV002544190;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75839830	75839830	75839830	-
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu)	1303	COL12A1	Uncertain significance	373325814	RCV001370418;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839865	75839865	75839865	-
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)	1303	COL12A1	Uncertain significance	947116571	RCV000817192;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839869	75839869	6:g.75839869C>A	-
NM_004370.6(COL12A1):c.6147T>C (p.Asp2049=)	1303	COL12A1	Likely benign	200777154	RCV000973885;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839870	75839870	6:g.75839870A>G	-
NM_004370.6(COL12A1):c.6141T>C (p.His2047=)	1303	COL12A1	Likely benign	773648194	RCV002186884;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839876	75839876	75839876	-
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg)	1303	COL12A1	Uncertain significance	569212577	RCV001976913;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839877	75839877	75839877	-
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002651233\|RCV003377911;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MeSH:D030342,MedGen:C0950123	6	75839892	75839892	NC_000006.11:g.75839892G>A	-
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)	1303	COL12A1	Uncertain significance	-1	RCV002972674;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839893	75839893	NC_000006.11:g.75839893A>T	-
NM_004370.6(COL12A1):c.6120C>T (p.Ser2040=)	1303	COL12A1	Likely benign	200570792	RCV000652953\|RCV001592829;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75839897	75839897	6:g.75839897G>A	ClinGen:CA3892893	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6116A>G (p.Asn2039Ser)	1303	COL12A1	Likely benign	202186932	RCV001368479;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839901	75839901	75839901	-
NM_004370.6(COL12A1):c.6114C>A (p.Thr2038=)	1303	COL12A1	Likely benign	1248355913	RCV000944797;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839903	75839903	6:g.75839903G>T	-
NM_004370.6(COL12A1):c.6105T>A (p.Gly2035=)	1303	COL12A1	Likely benign	764896298	RCV002152060;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839912	75839912	75839912	-
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser)	1303	COL12A1	Uncertain significance	750263276	RCV001982833;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839914	75839914	75839914	-
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu)	1303	COL12A1	Uncertain significance	1488658209	RCV000698377;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839917	75839917	6:g.75839917A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6093G>C (p.Leu2031=)	1303	COL12A1	Likely benign	909100621	RCV001447691;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839924	75839924	75839924	-
NM_004370.6(COL12A1):c.6084A>C (p.Pro2028=)	1303	COL12A1	Likely benign	-1	RCV002611814;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839933	75839933		-
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)	1303	COL12A1	Uncertain significance	780058273	RCV001968753\|RCV002466725;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810, Orphanet:610	6	75839937	75839937	75839937	-
NM_004370.6(COL12A1):c.6074G>A (p.Arg2025His)	1303	COL12A1	Conflicting interpretations of pathogenicity	34336755	RCV000797248\|RCV001558174;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75839943	75839943	6:g.75839943C>T	-
NM_004370.6(COL12A1):c.6073C>T (p.Arg2025Cys)	1303	COL12A1	Likely benign	534778154	RCV002038328;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839944	75839944	75839944	-
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)	1303	COL12A1	Uncertain significance	771186535	RCV000685746\|RCV001567735;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75839947	75839947	NC_000006.11:g.75839947G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6068-14T>A	1303	COL12A1	Benign/Likely benign	189714891	RCV001537032\|RCV002071931;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839963	75839963	75839963	-
NM_004370.6(COL12A1):c.6068-16T>C	1303	COL12A1	Likely benign	-1	RCV002942399;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839965	75839965	NC_000006.11:g.75839965A>G	-
NM_004370.6(COL12A1):c.6068-17G>T	1303	COL12A1	Benign	200347973	RCV002187978;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75839966	75839966	75839966	-
NM_004370.6(COL12A1):c.6068-20A>G	1303	COL12A1	Likely benign	-1	RCV002971896;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75839969	75839969	NC_000006.11:g.75839969T>C	-
NM_004370.6(COL12A1):c.6067+12A>G	1303	COL12A1	Likely benign	-1	RCV002595825;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840556	75840556	NC_000006.11:g.75840556T>C	-
NM_004370.6(COL12A1):c.6067+1G>A	1303	COL12A1	Conflicting interpretations of pathogenicity	1766265062	RCV001267560\|RCV002537700;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75840567	75840567	6:g.75840567C>T	-
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=)	1303	COL12A1	Uncertain significance	751540913	RCV001360227;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840568	75840568	75840568	-
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=)	1303	COL12A1	Uncertain significance	754929219	RCV000792642;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840569	75840569	6:g.75840569C>T	-
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met)	1303	COL12A1	Uncertain significance	1766265495	RCV002023983;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840570	75840570	75840570	-
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser)	1303	COL12A1	Uncertain significance	780638272	RCV001755338\|RCV002544160;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840571	75840571	75840571	-
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln)	1303	COL12A1	Benign/Likely benign	34438461	RCV000524755\|RCV001556792;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75840573	75840573	6:g.75840573C>T	ClinGen:CA3892920	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6054C>T (p.Ala2018=)	1303	COL12A1	Likely benign	-1	RCV003082485;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840581	75840581		-
NM_004370.6(COL12A1):c.6048C>T (p.Ser2016=)	1303	COL12A1	Likely benign	369770672	RCV001404164;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840587	75840587	75840587	-
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)	1303	COL12A1	Uncertain significance	1013402934	RCV001036035;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840605	75840605	6:g.75840605A>C	-
NM_004370.6(COL12A1):c.6027G>A (p.Ser2009=)	1303	COL12A1	Uncertain significance	-1	RCV003115003;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840608	75840608		-
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu)	1303	COL12A1	Uncertain significance	776981761	RCV000555267;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840609	75840609	6:g.75840609G>A	ClinGen:CA3892930	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)	1303	COL12A1	Uncertain significance	1023244422	RCV001300274\|RCV003145527;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75840624	75840624	75840624	-
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)	1303	COL12A1	Uncertain significance	-1	RCV002908645;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840625	75840625	NC_000006.11:g.75840625G>A	-
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)	1303	COL12A1	Uncertain significance	181357263	RCV001247421\|RCV003145491;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75840631	75840631	6:g.75840631C>T	-
NM_004370.6(COL12A1):c.6003C>T (p.Ser2001=)	1303	COL12A1	Likely benign	762626921	RCV001401040;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840632	75840632	6:g.75840632G>A	-
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys)	1303	COL12A1	Uncertain significance	1766270191	RCV001361487;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840633	75840633	75840633	-
NM_004370.6(COL12A1):c.5997C>G (p.Leu1999=)	1303	COL12A1	Likely benign	111547439	RCV001418485;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840638	75840638	75840638	-
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg)	1303	COL12A1	Benign	774159573	RCV001349611;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840639	75840639	75840639	-
NM_004370.6(COL12A1):c.5994A>G (p.Thr1998=)	1303	COL12A1	Likely benign	-1	RCV002948789;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840641	75840641		-
NM_004370.6(COL12A1):c.5987C>T (p.Pro1996Leu)	1303	COL12A1	Likely benign	752189896	RCV000686344;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840648	75840648	NC_000006.11:g.75840648G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)	1303	COL12A1	Uncertain significance	748657616	RCV000700663;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840657	75840657	NC_000006.11:g.75840657C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5977C>T (p.Arg1993Trp)	1303	COL12A1	Uncertain significance	199501842	RCV001913467;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75840658	75840658	75840658	-
NM_004370.6(COL12A1):c.5970T>C (p.His1990=)	1303	COL12A1	Likely benign	-1	RCV002616170;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840665	75840665		-
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)	1303	COL12A1	Uncertain significance	-1	RCV003118083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840670	75840670	NC_000006.11:g.75840670C>T	-
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	200870100	RCV001233868\|RCV003246789;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75840676	75840676	6:g.75840676G>A	-
NM_004370.6(COL12A1):c.5957C>T (p.Thr1986Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	768824483	RCV001930643\|RCV003146351;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75840678	75840678	75840678	-
NM_004370.6(COL12A1):c.5954A>G (p.Asn1985Ser)	1303	COL12A1	Uncertain significance	373170333	RCV000704655;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840681	75840681	NC_000006.11:g.75840681T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5949A>C (p.Pro1983=)	1303	COL12A1	Likely benign	770005423	RCV001402888;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840686	75840686	75840686	-
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del)	1303	COL12A1	Uncertain significance	1766274789	RCV001061284;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840690	75840692	6:g.75840690_75840692del	-
NM_004370.6(COL12A1):c.5943A>G (p.Val1981=)	1303	COL12A1	Likely benign	-1	RCV002643930;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75840692	75840692		-
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met)	1303	COL12A1	Uncertain significance	376487916	RCV001313613;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840695	75840695	75840695	-
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)	1303	COL12A1	Uncertain significance	540867293	RCV001216087;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840696	75840696	6:g.75840696A>C	-
NM_004370.6(COL12A1):c.5938-7C>T	1303	COL12A1	Likely benign	1343757913	RCV002176012;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840704	75840704	75840704	-
NM_004370.6(COL12A1):c.5938-9C>T	1303	COL12A1	Likely benign	1166562974	RCV001505545;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75840706	75840706	75840706	-
NM_004370.6(COL12A1):c.5938-9C>G	1303	COL12A1	Likely benign	-1	RCV002771454;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75840706	75840706	NC_000006.11:g.75840706G>C	-
NM_004370.6(COL12A1):c.5937+17T>C	1303	COL12A1	Likely benign	1023564287	RCV002108905;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841639	75841639	75841639	-
NM_004370.6(COL12A1):c.5937+14T>A	1303	COL12A1	Likely benign	2149385207	RCV002143329;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841642	75841642	75841642	-
NM_004370.6(COL12A1):c.5937+13G>T	1303	COL12A1	Likely benign	769986889	RCV002123668;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841643	75841643	75841643	-
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)	1303	COL12A1	Uncertain significance	-1	RCV002628937;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841681	75841681	NC_000006.11:g.75841681A>G	-
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro)	1303	COL12A1	Uncertain significance	2149385256	RCV001957836;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841688	75841688	75841688	-
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)	1303	COL12A1	Uncertain significance	-1	RCV002301879;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841693	75841693	75841693	-
NM_004370.6(COL12A1):c.5899G>A (p.Val1967Met)	1303	COL12A1	Likely benign	-1	RCV002756008;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841694	75841694	NC_000006.11:g.75841694C>T	-
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	1244436929	RCV001868692\|RCV001769624;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75841697	75841697	75841697	-
NM_004370.6(COL12A1):c.5895C>T (p.Arg1965=)	1303	COL12A1	Likely benign	376241836	RCV000877033;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841698	75841698	6:g.75841698G>A	-
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	200487396	RCV000186501\|RCV000441199\|RCV000702038;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841700	75841700	6:g.75841700G>A	ClinGen:CA203991,UniProtKB:Q99715#VAR_074546,OMIM:120320.0004	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)	1303	COL12A1	Uncertain significance	200487396	RCV000695047\|RCV003144527;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75841700	75841700	NC_000006.11:g.75841700G>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys)	1303	COL12A1	Uncertain significance	920578725	RCV001909851;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841702	75841702	75841702	-
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=)	1303	COL12A1	Benign	374671225	RCV001062301;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841704	75841704	6:g.75841704T>C	-
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)	1303	COL12A1	Uncertain significance	-1	RCV002932961;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841708	75841708	NC_000006.11:g.75841708A>G	-
NM_004370.6(COL12A1):c.5883G>C (p.Val1961=)	1303	COL12A1	Likely benign	368930149	RCV000525593;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841710	75841710	6:g.75841710C>G	ClinGen:CA3892976	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met)	1303	COL12A1	Uncertain significance	536233725	RCV000687824;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841712	75841712	NC_000006.11:g.75841712C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu)	1303	COL12A1	Uncertain significance	1179773170	RCV001979762;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841717	75841717	75841717	-
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=)	1303	COL12A1	Benign/Likely benign	186035636	RCV000551850\|RCV001591296;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75841719	75841719	6:g.75841719T>C	ClinGen:CA3892978	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)	1303	COL12A1	Uncertain significance	755452261	RCV000704288\|RCV002260663\|RCV003165903;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75841720	75841720	NC_000006.11:g.75841720G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=)	1303	COL12A1	Benign	594012	RCV000245710\|RCV001522454\|RCV001582858\|RCV001582859\|RCV001689845;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0034022,MedGen:C422531	6	75841722	75841722	NC_000006.11:g.75841722A>T	ClinGen:CA3892980	CN169374 not specified;
NM_004370.6(COL12A1):c.5871T>G (p.Ala1957=)	1303	COL12A1	Likely benign	594012	RCV001490565;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841722	75841722	75841722	-
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)	1303	COL12A1	Uncertain significance	-1	RCV003034462;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841728	75841728	NC_000006.11:g.75841728G>C	-
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr)	1303	COL12A1	Uncertain significance	2149385355	RCV001368017;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841730	75841730	75841730	-
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn)	1303	COL12A1	Uncertain significance	2149385355	RCV002049966;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841730	75841730	75841730	-
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=)	1303	COL12A1	Benign	534462036	RCV000972032;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841734	75841734	6:g.75841734G>A	-
NM_004370.6(COL12A1):c.5857C>T (p.Arg1953Cys)	1303	COL12A1	Uncertain significance	777948762	RCV002023439;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841736	75841736	75841736	-
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)	1303	COL12A1	Uncertain significance	1766324604	RCV001314146\|RCV001535699;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75841738	75841738	75841738	-
NM_004370.6(COL12A1):c.5851G>A (p.Asp1951Asn)	1303	COL12A1	Likely benign	771175230	RCV001214163;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841742	75841742	6:g.75841742C>T	-
NM_004370.6(COL12A1):c.5850C>T (p.Leu1950=)	1303	COL12A1	Likely benign	779833436	RCV002060775;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841743	75841743	6:g.75841743G>A	ClinGen:CA3892986	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)	1303	COL12A1	Uncertain significance	-1	RCV002819313;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841747	75841747	NC_000006.11:g.75841747C>T	-
NM_004370.6(COL12A1):c.5840C>T (p.Pro1947Leu)	1303	COL12A1	Uncertain significance	768626277	RCV000797343;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841753	75841753	6:g.75841753G>A	-
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	191233787	RCV000536812\|RCV001551411;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75841754	75841754	6:g.75841754G>T	ClinGen:CA3892989	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5839C>T (p.Pro1947Ser)	1303	COL12A1	Uncertain significance	191233787	RCV001210510;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841754	75841754	6:g.75841754G>A	-
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile)	1303	COL12A1	Uncertain significance	2149385416	RCV002039986;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841756	75841756	75841756	-
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)	1303	COL12A1	Uncertain significance	1162295476	RCV001224947;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841777	75841777	6:g.75841777T>G	-
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)	1303	COL12A1	Uncertain significance	1562184031	RCV001220768\|RCV003145410;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75841784	75841784	6:g.75841784C>T	-
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly)	1303	COL12A1	Uncertain significance	1474687066	RCV001374098\|RCV001751738;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75841793	75841793	75841793	-
NM_004370.6(COL12A1):c.5799G>A (p.Met1933Ile)	1303	COL12A1	Likely benign	372482618	RCV001948720;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841794	75841794	75841794	-
NM_004370.6(COL12A1):c.5795-5C>T	1303	COL12A1	Benign	768037406	RCV000964576;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841803	75841803	6:g.75841803G>A	-
NM_004370.6(COL12A1):c.5795-14C>T	1303	COL12A1	Likely benign	1178311224	RCV002093704;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75841812	75841812	75841812	-
NM_004370.6(COL12A1):c.5795-16G>A	1303	COL12A1	Likely benign	-1	RCV002967963;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75841814	75841814	NC_000006.11:g.75841814C>T	-
NM_004370.6(COL12A1):c.5794+13G>A	1303	COL12A1	Likely benign	-1	RCV002645664;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75842996	75842996	NC_000006.11:g.75842996C>T	-
NM_004370.6(COL12A1):c.5793A>G (p.Thr1931=)	1303	COL12A1	Likely benign	199632288	RCV001038970;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843010	75843010	6:g.75843010T>C	-
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=)	1303	COL12A1	Uncertain significance	199632288	RCV001344872;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843010	75843010	75843010	-
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser)	1303	COL12A1	Uncertain significance	2149387040	RCV001953115;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843013	75843013	75843013	-
NM_004370.6(COL12A1):c.5771G>A (p.Arg1924His)	1303	COL12A1	Conflicting interpretations of pathogenicity	751986784	RCV001373011\|RCV001776231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843032	75843032	75843032	-
NM_004370.6(COL12A1):c.5770C>T (p.Arg1924Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	775862147	RCV001049461\|RCV002466613;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75843033	75843033	6:g.75843033G>A	-
NM_004370.6(COL12A1):c.5767G>A (p.Gly1923Arg)	1303	COL12A1	Uncertain significance	764600940	RCV000703245;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843036	75843036	NC_000006.11:g.75843036C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5763T>C (p.Asp1921=)	1303	COL12A1	Likely benign	144223578	RCV000909925;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843040	75843040	6:g.75843040A>G	-
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)	1303	COL12A1	Uncertain significance	757348453	RCV001776380\|RCV001885129;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843041	75843041	75843041	-
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)	1303	COL12A1	Uncertain significance	1766404958	RCV001205925;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843042	75843042	6:g.75843042C>T	-
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val)	1303	COL12A1	Uncertain significance	2149387143	RCV001936932;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843047	75843047	75843047	-
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)	1303	COL12A1	Uncertain significance	1766405494	RCV001048310;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843051	75843051	6:g.75843051T>C	-
NM_004370.6(COL12A1):c.5746G>A (p.Val1916Ile)	1303	COL12A1	Likely benign	778672810	RCV001345126;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843057	75843057	75843057	-
NM_004370.6(COL12A1):c.5745C>T (p.Pro1915=)	1303	COL12A1	Likely benign	780813171	RCV001426525;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843058	75843058	75843058	-
NM_004370.6(COL12A1):c.5745C>A (p.Pro1915=)	1303	COL12A1	Likely benign	-1	RCV002912856;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843058	75843058		-
NM_004370.6(COL12A1):c.5737G>A (p.Val1913Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV003146585\|RCV002589067;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843066	75843066	NC_000006.11:g.75843066C>T	-
NM_004370.6(COL12A1):c.5736T>G (p.Thr1912=)	1303	COL12A1	Likely benign	-1	RCV002780848;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843067	75843067		-
NM_004370.6(COL12A1):c.5730T>C (p.Thr1910=)	1303	COL12A1	Likely benign	1582103755	RCV002540790;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843073	75843073	6:g.75843073A>G	-
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=)	1303	COL12A1	Benign/Likely benign	146146364	RCV000242544\|RCV000526629\|RCV001582857;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75843076	75843076	6:g.75843076G>A	ClinGen:CA3893030	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5724A>G (p.Ser1908=)	1303	COL12A1	Likely benign	369481796	RCV002204162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843079	75843079	75843079	-
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)	1303	COL12A1	Uncertain significance	-1	RCV003088614;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843080	75843080	NC_000006.11:g.75843080G>A	-
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)	1303	COL12A1	Uncertain significance	1766408982	RCV001205917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843090	75843090	6:g.75843090G>A	-
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr)	1303	COL12A1	Uncertain significance	2149387306	RCV001961295;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843111	75843111	75843111	-
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser)	1303	COL12A1	Uncertain significance	2149387327	RCV001925497;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843122	75843122	75843122	-
NM_004370.6(COL12A1):c.5679G>C (p.Gly1893=)	1303	COL12A1	Likely benign	-1	RCV003087702;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843124	75843124		-
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	373739940	RCV001592436\|RCV001866218;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843126	75843126	75843126	-
NM_004370.6(COL12A1):c.5676C>T (p.Pro1892=)	1303	COL12A1	Likely benign	200130428	RCV000652932;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843127	75843127	6:g.75843127G>A	ClinGen:CA3893037	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5673C>G (p.Ile1891Met)	1303	COL12A1	Uncertain significance	750550229	RCV001362957;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843130	75843130	75843130	-
NM_004370.6(COL12A1):c.5665-19G>A	1303	COL12A1	Likely benign	903881382	RCV002198267;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843157	75843157	75843157	-
NM_004370.6(COL12A1):c.5664+16_5664+35del	1303	COL12A1	Likely benign	1333051927	RCV002107299;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843539	75843558	75843538	-
NM_004370.6(COL12A1):c.5664+14G>T	1303	COL12A1	Likely benign	371510068	RCV002144894;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843560	75843560	75843560	-
NM_004370.6(COL12A1):c.5664+3A>G	1303	COL12A1	Uncertain significance	2149387981	RCV001927425;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843571	75843571	75843571	-
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys)	1303	COL12A1	Uncertain significance	1766437313	RCV001898810;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843579	75843579	75843579	-
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln)	1303	COL12A1	Uncertain significance	1242897212	RCV001991578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843582	75843582	75843582	-
NM_004370.6(COL12A1):c.5646A>T (p.Ala1882=)	1303	COL12A1	Likely benign	774390819	RCV001498460;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843592	75843592	6:g.75843592T>A	-
NM_004370.6(COL12A1):c.5645C>T (p.Ala1882Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	565471668	RCV000808585\|RCV003145161;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843593	75843593	6:g.75843593G>A	-
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)	1303	COL12A1	Uncertain significance	757943935	RCV001917909;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843594	75843594	75843594	-
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	184585202	RCV000801635\|RCV001766661\|RCV002534680;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75843603	75843603	6:g.75843603C>T	-
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)	1303	COL12A1	Uncertain significance	1416074718	RCV001340476\|RCV003399125;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|	6	75843609	75843609	75843609	-
NM_004370.6(COL12A1):c.5625G>A (p.Lys1875=)	1303	COL12A1	Likely benign	768333048	RCV002167409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843613	75843613	75843613	-
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)	1303	COL12A1	Uncertain significance	1766439644	RCV001345838;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843618	75843618	75843618	-
NM_004370.6(COL12A1):c.5615G>A (p.Arg1872His)	1303	COL12A1	Conflicting interpretations of pathogenicity	770194625	RCV000705454\|RCV001797135;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75843623	75843623	NC_000006.11:g.75843623C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)	1303	COL12A1	Likely benign	773807635	RCV001299252;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843624	75843624	75843624	-
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly)	1303	COL12A1	Uncertain significance	773807635	RCV001338396;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843624	75843624	75843624	-
NM_004370.6(COL12A1):c.5610T>C (p.Asn1870=)	1303	COL12A1	Likely benign	2149388082	RCV002162673;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843628	75843628	75843628	-
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val)	1303	COL12A1	Uncertain significance	1370422060	RCV000807965;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843635	75843635	6:g.75843635T>A	-
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)	1303	COL12A1	Uncertain significance	1370422060	RCV001237973\|RCV001587267;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75843635	75843635	6:g.75843635T>C	-
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu)	1303	COL12A1	Uncertain significance	377417661	RCV001967040;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843650	75843650	75843650	-
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)	1303	COL12A1	Uncertain significance	-1	RCV002638807;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843650	75843650	NC_000006.11:g.75843650C>T	-
NM_004370.6(COL12A1):c.5587C>T (p.Arg1863Cys)	1303	COL12A1	Uncertain significance	201372309	RCV000652912\|RCV001592828;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843651	75843651	6:g.75843651G>A	ClinGen:CA3893080	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5585T>C (p.Val1862Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	200029869	RCV000878942\|RCV003145226;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843653	75843653	6:g.75843653A>G	-
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser)	1303	COL12A1	Uncertain significance	1160822324	RCV000652904;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843656	75843656	NC_000006.11:g.75843656T>C	ClinGen:CA364735188	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)	1303	COL12A1	Uncertain significance	-1	RCV003028953;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843664	75843664	NC_000006.11:g.75843664G>T	-
NM_004370.6(COL12A1):c.5573G>C (p.Ser1858Thr)	1303	COL12A1	Likely benign	-1	RCV002588973;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843665	75843665	NC_000006.11:g.75843665C>G	-
NM_004370.6(COL12A1):c.5571C>T (p.Thr1857=)	1303	COL12A1	Likely benign	-1	RCV002900242;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843667	75843667		-
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)	1303	COL12A1	Uncertain significance	1239883407	RCV002050882\|RCV003146254;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843668	75843668	75843668	-
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)	1303	COL12A1	Uncertain significance	750426294	RCV001035052\|RCV003353112\|RCV003145256;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75843669	75843669	6:g.75843669T>C	-
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg)	1303	COL12A1	Uncertain significance	371970739	RCV001348893;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843674	75843674	75843674	-
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)	1303	COL12A1	Uncertain significance	1479368774	RCV001213741;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843675	75843675	6:g.75843675G>T	-
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu)	1303	COL12A1	Uncertain significance	543663005	RCV001901097\|RCV003327532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75843676	75843676	75843676	-
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)	1303	COL12A1	Uncertain significance	-1	RCV002647471;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843684	75843684	NC_000006.11:g.75843684C>G	-
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys)	1303	COL12A1	Uncertain significance	1235141094	RCV000704174;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843691	75843691	6:g.75843691G>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5525-20G>A	1303	COL12A1	Likely benign	-1	RCV002993985;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75843733	75843733	NC_000006.11:g.75843733C>T	-
NM_004370.6(COL12A1):c.5525-132A>G	1303	COL12A1	Benign	1332778	RCV001613526\|RCV002070479;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75843845	75843845	75843845	-
NM_004370.6(COL12A1):c.5524+16G>C	1303	COL12A1	Likely benign	755749812	RCV002172460;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844426	75844426	75844426	-
NM_004370.6(COL12A1):c.5524+10A>G	1303	COL12A1	Likely benign	-1	RCV002970770;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844432	75844432	NC_000006.11:g.75844432T>C	-
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)	1303	COL12A1	Uncertain significance	-1	RCV002299631;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844445	75844445	75844445	-
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)	1303	COL12A1	Uncertain significance	-1	RCV003034452;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844447	75844447	NC_000006.11:g.75844447T>G	-
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup)	1303	COL12A1	Uncertain significance	1766496347	RCV001309286;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844449	75844450	75844449	-
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val)	1303	COL12A1	Uncertain significance	2149389596	RCV002021450;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844450	75844450	75844450	-
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)	1303	COL12A1	Uncertain significance	749681990	RCV001239650;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844451	75844451	6:g.75844451C>T	-
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	757825778	RCV001362217\|RCV001751712;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844456	75844456	75844456	-
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=)	1303	COL12A1	Benign/Likely benign	77425231	RCV000245630\|RCV000548099\|RCV001539548;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75844458	75844458	NC_000006.11:g.75844458C>T	ClinGen:CA3893114	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	200108494	RCV001038960\|RCV001546611;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75844459	75844459	6:g.75844459G>A	-
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys)	1303	COL12A1	Uncertain significance	374927144	RCV001322744;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844462	75844462	75844462	-
NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)	1303	COL12A1	Likely benign	182768408	RCV000652905\|RCV001555180;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844465	75844465	NC_000006.11:g.75844465C>T	ClinGen:CA3893116	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)	1303	COL12A1	Uncertain significance	775456254	RCV001228605;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844466	75844466	6:g.75844466G>C	-
NM_004370.6(COL12A1):c.5500C>T (p.Arg1834Trp)	1303	COL12A1	Likely benign	-1	RCV003080666;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844466	75844466	NC_000006.11:g.75844466G>A	-
NM_004370.6(COL12A1):c.5499T>C (p.Gly1833=)	1303	COL12A1	Likely benign	1582107388	RCV001427011;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844467	75844467	6:g.75844467A>G	-
NM_004370.6(COL12A1):c.5493A>G (p.Glu1831=)	1303	COL12A1	Likely benign	747217911	RCV001071516;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844473	75844473	6:g.75844473T>C	-
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly)	1303	COL12A1	Uncertain significance	1419443025	RCV001887618\|RCV002293535;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844480	75844480	75844480	-
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	373011926	RCV001994922\|RCV003170200;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75844483	75844483	75844483	-
NM_004370.6(COL12A1):c.5478G>C (p.Leu1826=)	1303	COL12A1	Likely benign	201965731	RCV001477768;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844488	75844488	75844488	-
NM_004370.6(COL12A1):c.5475T>G (p.Ser1825=)	1303	COL12A1	Likely benign	766269568	RCV000916231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844491	75844491	6:g.75844491A>C	-
NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	201408175	RCV000537883\|RCV001509278\|RCV001542757;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MONDO:MONDO:0013411,MedGen:C3808377,OMIM:613763, Orphanet:91492, Orphanet:98992, Orphanet:98993,Orph	6	75844499	75844499	6:g.75844499C>T	ClinGen:CA3893123	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)	1303	COL12A1	Uncertain significance	-1	RCV002629094\|RCV003143524;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75844499	75844499	NC_000006.11:g.75844499C>A	-
NM_004370.6(COL12A1):c.5466C>T (p.Thr1822=)	1303	COL12A1	Likely benign	373978519	RCV001425579;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844500	75844500	75844500	-
NM_004370.6(COL12A1):c.5466C>G (p.Thr1822=)	1303	COL12A1	Likely benign	373978519	RCV002154671;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844500	75844500	75844500	-
NM_004370.6(COL12A1):c.5462T>C (p.Ile1821Thr)	1303	COL12A1	Likely benign	1464239210	RCV001886265;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844504	75844504	75844504	-
NM_004370.6(COL12A1):c.5460T>A (p.Thr1820=)	1303	COL12A1	Likely benign	1003584679	RCV000652950;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844506	75844506	NC_000006.11:g.75844506A>T	ClinGen:CA140991049	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)	1303	COL12A1	Uncertain significance	1461567926	RCV000796074;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844508	75844508	6:g.75844508T>C	-
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)	1303	COL12A1	Uncertain significance	-1	RCV003036783;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844508	75844508	NC_000006.11:g.75844508T>G	-
NM_004370.6(COL12A1):c.5457C>T (p.Tyr1819=)	1303	COL12A1	Likely benign	-1	RCV003043321;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844509	75844509		-
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)	1303	COL12A1	Uncertain significance	-1	RCV003075009;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844514	75844514	NC_000006.11:g.75844514G>T	-
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)	1303	COL12A1	Uncertain significance	760315104	RCV001045917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844517	75844517	6:g.75844517T>C	-
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)	1303	COL12A1	Uncertain significance	-1	RCV002303125;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844519	75844519	75844519	-
NM_004370.6(COL12A1):c.5445A>T (p.Pro1815=)	1303	COL12A1	Likely benign	1249793538	RCV001436732;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844521	75844521	6:g.75844521T>A	-
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)	1303	COL12A1	Uncertain significance	-1	RCV002952917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844523	75844523	NC_000006.11:g.75844523G>A	-
NM_004370.6(COL12A1):c.5436A>G (p.Lys1812=)	1303	COL12A1	Likely benign	-1	RCV002613828;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844530	75844530		-
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg)	1303	COL12A1	Uncertain significance	558214604	RCV000652913;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844534	75844534	6:g.75844534T>C	ClinGen:CA140991125	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5425G>A (p.Val1809Ile)	1303	COL12A1	Uncertain significance	757737726	RCV001965120;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844541	75844541	75844541	-
NM_004370.6(COL12A1):c.5415G>A (p.Gln1805=)	1303	COL12A1	Likely benign	750914354	RCV002135187;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75844551	75844551	75844551	-
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	200091648	RCV000821770\|RCV001585761\|RCV003392625;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75844555	75844555	6:g.75844555C>T	-
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)	1303	COL12A1	Conflicting interpretations of pathogenicity	201973949	RCV000559299\|RCV001797105;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844556	75844556	NC_000006.11:g.75844556G>A	ClinGen:CA3893134	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu)	1303	COL12A1	Uncertain significance	754812998	RCV001895045;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844558	75844558	75844558	-
NM_004370.6(COL12A1):c.5403A>C (p.Ile1801=)	1303	COL12A1	Likely benign	1470703983	RCV001502173;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75844563	75844563	75844563	-
NM_004370.6(COL12A1):c.5402T>C (p.Ile1801Thr)	1303	COL12A1	Likely benign	200317239	RCV000544630\|RCV001545845;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844564	75844564	NC_000006.11:g.75844564A>G	ClinGen:CA3893136	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5395-29G>A	1303	COL12A1	Benign	1332020	RCV001582443\|RCV001582444\|RCV001673224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75844600	75844600	75844600	-
NM_004370.6(COL12A1):c.5394+14A>G	1303	COL12A1	Likely benign	-1	RCV003068660;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847139	75847139	NC_000006.11:g.75847139T>C	-
NM_004370.6(COL12A1):c.5394+10T>A	1303	COL12A1	Likely benign	890398079	RCV000982319;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847143	75847143	6:g.75847143A>T	-
NM_004370.6(COL12A1):c.5394+5T>G	1303	COL12A1	Uncertain significance	-1	RCV003082142;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847148	75847148	NC_000006.11:g.75847148A>C	-
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)	1303	COL12A1	Uncertain significance	370767331	RCV000534080\|RCV001591295\|RCV002525329;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75847154	75847154	6:g.75847154G>A	ClinGen:CA3893151	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)	1303	COL12A1	Uncertain significance	370767331	RCV001053901;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847154	75847154	6:g.75847154G>T	-
NM_004370.6(COL12A1):c.5388G>A (p.Glu1796=)	1303	COL12A1	Likely benign	1479706901	RCV002129324;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847159	75847159	75847159	-
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)	1303	COL12A1	Uncertain significance	548889128	RCV000729162\|RCV001868938;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847166	75847166	NC_000006.11:g.75847166C>T	-
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser)	1303	COL12A1	Uncertain significance	2149394149	RCV002041273;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847167	75847167	75847167	-
NM_004370.6(COL12A1):c.5379A>G (p.Glu1793=)	1303	COL12A1	Likely benign	2149394158	RCV001492512;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847168	75847168	75847168	-
NM_004370.6(COL12A1):c.5373A>T (p.Thr1791=)	1303	COL12A1	Likely benign	1422128161	RCV001485188;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847174	75847174	75847174	-
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys)	1303	COL12A1	Uncertain significance	199684959	RCV001309363\|RCV001776183;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75847178	75847178	75847178	-
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)	1303	COL12A1	Uncertain significance	1766675850	RCV001067592;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847181	75847181	6:g.75847181G>A	-
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)	1303	COL12A1	Uncertain significance	-1	RCV002991605;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75847188	75847188	NC_000006.11:g.75847188A>G	-
NM_004370.6(COL12A1):c.5352G>A (p.Arg1784=)	1303	COL12A1	Likely benign	1372127467	RCV000652931;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75847195	75847195	NC_000006.11:g.75847195C>T	ClinGen:CA450922313	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys)	1303	COL12A1	Uncertain significance	368526865	RCV000815152;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847199	75847199	6:g.75847199T>C	-
NM_004370.6(COL12A1):c.5340G>A (p.Val1780=)	1303	COL12A1	Likely benign	371016672	RCV000876311;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847207	75847207	6:g.75847207C>T	-
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)	1303	COL12A1	Uncertain significance	1766678485	RCV001224157\|RCV002511061;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75847209	75847209	6:g.75847209C>T	-
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro)	1303	COL12A1	Uncertain significance	748487098	RCV001367590;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847211	75847211	75847211	-
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His)	1303	COL12A1	Uncertain significance	748487098	RCV001769577\|RCV001885093;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847211	75847211	75847211	-
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys)	1303	COL12A1	Uncertain significance	760210784	RCV000817047;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847212	75847212	6:g.75847212G>A	-
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr)	1303	COL12A1	Uncertain significance	2149394273	RCV001948922;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847224	75847224	75847224	-
NM_004370.6(COL12A1):c.5310T>C (p.Thr1770=)	1303	COL12A1	Likely benign	2149394288	RCV002077874;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847237	75847237	75847237	-
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile)	1303	COL12A1	Uncertain significance	201205563	RCV001304011;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847238	75847238	75847238	-
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)	1303	COL12A1	Uncertain significance	192345009	RCV000687104\|RCV002221576;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75847239	75847239	NC_000006.11:g.75847239T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)	1303	COL12A1	Uncertain significance	-1	RCV002908775;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847250	75847250	NC_000006.11:g.75847250G>A	-
NM_004370.6(COL12A1):c.5295A>T (p.Thr1765=)	1303	COL12A1	Likely benign	570972516	RCV002100527;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847252	75847252	75847252	-
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	755536829	RCV000625794\|RCV000652902\|RCV002533144\|RCV003162766;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0000355,M	6	75847259	75847259	6:g.75847259T>C	ClinGen:CA3893172	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys)	1303	COL12A1	Uncertain significance	374747725	RCV001931203;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847273	75847273	75847273	-
NM_004370.6(COL12A1):c.5274C>T (p.Asn1758=)	1303	COL12A1	Likely benign	-1	RCV002726078;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847273	75847273		-
NM_004370.6(COL12A1):c.5252-7C>A	1303	COL12A1	Likely benign	-1	RCV002811067;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847302	75847302	NC_000006.11:g.75847302G>T	-
NM_004370.6(COL12A1):c.5252-11T>C	1303	COL12A1	Likely benign	-1	RCV002588757;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847306	75847306	NC_000006.11:g.75847306A>G	-
NM_004370.6(COL12A1):c.5252-12A>C	1303	COL12A1	Likely benign	747721408	RCV002084404;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75847307	75847307	75847307	-
NM_004370.6(COL12A1):c.5251+14T>C	1303	COL12A1	Likely benign	188210409	RCV002149386;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848022	75848022	75848022	-
NM_004370.6(COL12A1):c.5251+4A>G	1303	COL12A1	Uncertain significance	781348212	RCV000822117;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848032	75848032	6:g.75848032T>C	-
NM_004370.6(COL12A1):c.5232G>A (p.Leu1744=)	1303	COL12A1	Likely benign	979503995	RCV002133593;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848055	75848055	75848055	-
NM_004370.6(COL12A1):c.5231-8T>C	1303	COL12A1	Likely benign	1766724577	RCV001440982;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848064	75848064	75848064	-
NM_004370.6(COL12A1):c.5231-9_5231-8del	1303	COL12A1	Uncertain significance	-1	RCV002918124;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848064	75848065	NC_000006.11:g.75848066_75848067del	-
NM_004370.6(COL12A1):c.5230+17C>T	1303	COL12A1	Likely benign	-1	RCV002676974;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848147	75848147	NC_000006.11:g.75848147G>A	-
NM_004370.6(COL12A1):c.5230+12G>A	1303	COL12A1	Likely benign	-1	RCV002790882;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848152	75848152	NC_000006.11:g.75848152C>T	-
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)	1303	COL12A1	Conflicting interpretations of pathogenicity	552834799	RCV000803398\|RCV001544912;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848164	75848164	6:g.75848164G>A	-
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)	1303	COL12A1	Uncertain significance	-1	RCV002927449;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848164	75848164	NC_000006.11:g.75848164G>T	-
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His)	1303	COL12A1	Benign	79830915	RCV000253340\|RCV000560334\|RCV001683042;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75848169	75848169	NC_000006.11:g.75848169C>T	ClinGen:CA3893224	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5224C>T (p.Arg1742Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	530680231	RCV000489488\|RCV000803721;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848170	75848170	NC_000006.11:g.75848170G>A	ClinGen:CA3893225	CN169374 not specified;
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser)	1303	COL12A1	Uncertain significance	530680231	RCV001348668;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848170	75848170	75848170	-
NM_004370.6(COL12A1):c.5221G>A (p.Glu1741Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	200201449	RCV000545369\|RCV001085764;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848173	75848173	NC_000006.11:g.75848173C>T	ClinGen:CA3893227	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)	1303	COL12A1	Uncertain significance	-1	RCV002298056;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848179	75848179	75848179	-
NM_004370.6(COL12A1):c.5215G>T (p.Gly1739Cys)	1303	COL12A1	Likely benign	-1	RCV002726753;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848179	75848179	NC_000006.11:g.75848179C>A	-
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr)	1303	COL12A1	Benign	240736	RCV000248545\|RCV001522625\|RCV001582856\|RCV001582855\|RCV001610645;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,	6	75848181	75848181	6:g.75848181A>G	ClinGen:CA3893228,UniProtKB:Q99715#VAR_048769	CN169374 not specified;
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val)	1303	COL12A1	Benign	769221057	RCV001346250;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848185	75848185	75848185	-
NM_004370.6(COL12A1):c.5208C>A (p.Asp1736Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	776561287	RCV000810411\|RCV002510984;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848186	75848186	6:g.75848186G>T	-
NM_004370.6(COL12A1):c.5208C>T (p.Asp1736=)	1303	COL12A1	Likely benign	-1	RCV003075093;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848186	75848186		-
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	762021815	RCV000809094\|RCV001564747\|RCV001809824\|RCV003166281;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MeSH:D030342,MedGen:C0950123	6	75848187	75848187	6:g.75848187T>C	-
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)	1303	COL12A1	Uncertain significance	377226722	RCV001876596;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848192	75848192	75848192	-
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)	1303	COL12A1	Uncertain significance	750726658	RCV001320670;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848200	75848200	75848200	-
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)	1303	COL12A1	Uncertain significance	763294691	RCV001216842\|RCV001751407;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848207	75848207	6:g.75848207A>T	-
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser)	1303	COL12A1	Uncertain significance	1329724602	RCV001924801;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848209	75848209	75848209	-
NM_004370.6(COL12A1):c.5184T>C (p.Tyr1728=)	1303	COL12A1	Likely benign	767349975	RCV000882153;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848210	75848210	6:g.75848210A>G	-
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)	1303	COL12A1	Uncertain significance	752550335	RCV001218713;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848214	75848214	6:g.75848214A>C	-
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile)	1303	COL12A1	Uncertain significance	370108747	RCV001941222;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848220	75848220	75848220	-
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn)	1303	COL12A1	Uncertain significance	1766737229	RCV001347347;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848236	75848236	75848236	-
NM_004370.6(COL12A1):c.5157C>T (p.Ile1719=)	1303	COL12A1	Likely benign	1766737359	RCV002112504;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848237	75848237	75848237	-
NM_004370.6(COL12A1):c.5140C>G (p.Leu1714Val)	1303	COL12A1	Uncertain significance	753254039	RCV001992031\|RCV003146466;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848254	75848254	75848254	-
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	373020081	RCV000800122\|RCV001569003;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848256	75848256	6:g.75848256T>C	-
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	778415707	RCV001988629\|RCV003146454;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848260	75848260	75848260	-
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=)	1303	COL12A1	Benign	180961776	RCV000530633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848261	75848261	6:g.75848261G>A	ClinGen:CA3893242	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5126T>C (p.Leu1709Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	201810535	RCV000809373\|RCV001776022;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848268	75848268	6:g.75848268A>G	-
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	767343975	RCV000812910\|RCV001336678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848278	75848278	6:g.75848278C>T	-
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)	1303	COL12A1	Uncertain significance	-1	RCV002301159;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848279	75848279	75848279	-
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)	1303	COL12A1	Uncertain significance	-1	RCV002667871\|RCV003322925;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848283	75848283	NC_000006.11:g.75848283C>T	-
NM_004370.6(COL12A1):c.5098-5C>T	1303	COL12A1	Likely benign	766762283	RCV002060774;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848301	75848301	NC_000006.11:g.75848301G>A	ClinGen:CA3893252	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5098-10T>C	1303	COL12A1	Likely benign	968352189	RCV002165351;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848306	75848306	75848306	-
NM_004370.6(COL12A1):c.5098-13C>T	1303	COL12A1	Likely benign	186255379	RCV001534296\|RCV002568223;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848309	75848309	75848309	-
NM_004370.6(COL12A1):c.5098-14C>T	1303	COL12A1	Likely benign	370402417	RCV002217902;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848310	75848310	75848310	-
NM_004370.6(COL12A1):c.5097+20T>G	1303	COL12A1	Likely benign	-1	RCV002790719;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848518	75848518	NC_000006.11:g.75848518A>C	-
NM_004370.6(COL12A1):c.5097+11C>A	1303	COL12A1	Likely benign	-1	RCV002616416;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848527	75848527	NC_000006.11:g.75848527G>T	-
NM_004370.6(COL12A1):c.5097+6T>A	1303	COL12A1	Uncertain significance	-1	RCV003087302;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848532	75848532	NC_000006.11:g.75848532A>T	-
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys)	1303	COL12A1	Uncertain significance	1369964113	RCV001959622;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848540	75848540	75848540	-
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr)	1303	COL12A1	Uncertain significance	749443694	RCV000692687;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848542	75848542	NC_000006.11:g.75848542A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5085A>G (p.Ser1695=)	1303	COL12A1	Likely benign	190018580	RCV000960346\|RCV001558433;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848550	75848550	6:g.75848550T>C	-
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)	1303	COL12A1	Uncertain significance	-1	RCV002608502;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848552	75848552	NC_000006.11:g.75848552A>T	-
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser)	1303	COL12A1	Uncertain significance	759692428	RCV000798511;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848560	75848560	6:g.75848560A>G	-
NM_004370.6(COL12A1):c.5069C>T (p.Ala1690Val)	1303	COL12A1	Uncertain significance	763883662	RCV001214769;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848566	75848566	6:g.75848566G>A	-
NM_004370.6(COL12A1):c.5038T>C (p.Ser1680Pro)	1303	COL12A1	Likely benign	-1	RCV003089378;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848597	75848597	NC_000006.11:g.75848597A>G	-
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser)	1303	COL12A1	Uncertain significance	550455854	RCV003319500\|RCV002038105;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848600	75848600	75848600	-
NM_004370.6(COL12A1):c.5034A>C (p.Gly1678=)	1303	COL12A1	Likely benign	757968333	RCV001393224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848601	75848601	75848601	-
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu)	1303	COL12A1	Uncertain significance	1766757762	RCV001309453;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848624	75848624	75848624	-
NM_004370.6(COL12A1):c.5005G>C (p.Glu1669Gln)	1303	COL12A1	Likely benign	181511246	RCV000552072\|RCV001591294;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848630	75848630	6:g.75848630C>G	ClinGen:CA3893278	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.5004A>G (p.Ser1668=)	1303	COL12A1	Likely benign	1301829570	RCV001426161;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848631	75848631	6:g.75848631T>C	-
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp)	1303	COL12A1	Uncertain significance	1582115930	RCV000823668;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848640	75848640	6:g.75848640T>G	-
NM_004370.6(COL12A1):c.4991C>A (p.Thr1664Asn)	1303	COL12A1	Likely benign	754587593	RCV000652903;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848644	75848644	6:g.75848644G>T	ClinGen:CA3893280	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4980C>G (p.Asn1660Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	368481619	RCV002029697\|RCV002290839;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848655	75848655	75848655	-
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)	1303	COL12A1	Uncertain significance	-1	RCV002595208;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848656	75848656	NC_000006.11:g.75848656T>A	-
NM_004370.6(COL12A1):c.4975A>G (p.Thr1659Ala)	1303	COL12A1	Likely benign	-1	RCV002974812;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848660	75848660	NC_000006.11:g.75848660T>C	-
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp)	1303	COL12A1	Uncertain significance	1766760179	RCV001308138;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848665	75848665	75848665	-
NM_004370.6(COL12A1):c.4963G>A (p.Val1655Met)	1303	COL12A1	Likely benign	749368197	RCV001062545;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848672	75848672	6:g.75848672C>T	-
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)	1303	COL12A1	Uncertain significance	-1	RCV003048155;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75848672	75848672	NC_000006.11:g.75848672C>A	-
NM_004370.6(COL12A1):c.4962C>T (p.Pro1654=)	1303	COL12A1	Conflicting interpretations of pathogenicity	771078518	RCV000904864\|RCV001569935;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75848673	75848673	6:g.75848673G>A	-
NM_004370.6(COL12A1):c.4958-4A>T	1303	COL12A1	Likely benign	-1	RCV002720620;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848681	75848681	NC_000006.11:g.75848681T>A	-
NM_004370.6(COL12A1):c.4958-7A>C	1303	COL12A1	Likely benign	1332779	RCV000546458\|RCV001584354;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75848684	75848684	6:g.75848684T>G	ClinGen:CA3893289	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4958-7A>G	1303	COL12A1	Likely benign	1332779	RCV001434471;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75848684	75848684	6:g.75848684T>C	-
NM_004370.6(COL12A1):c.4957+10G>C	1303	COL12A1	Likely benign	1172874533	RCV001474629;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851738	75851738	6:g.75851738C>G	-
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)	1303	COL12A1	Uncertain significance	-1	RCV002857881;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851749	75851749		-
NM_004370.6(COL12A1):c.4936G>C (p.Val1646Leu)	1303	COL12A1	Likely benign	779002973	RCV000652907;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75851769	75851769	6:g.75851769C>G	ClinGen:CA3893307	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4935A>G (p.Pro1645=)	1303	COL12A1	Likely benign	-1	RCV003061494;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851770	75851770		-
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)	1303	COL12A1	Uncertain significance	-1	RCV002895055;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851775	75851775	NC_000006.11:g.75851775G>A	-
NM_004370.6(COL12A1):c.4929T>G (p.Ser1643=)	1303	COL12A1	Likely benign	-1	RCV002851395;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851776	75851776		-
NM_004370.6(COL12A1):c.4918G>A (p.Glu1640Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	780206104	RCV000803139\|RCV001759529\|RCV003411767;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75851787	75851787	6:g.75851787C>T	-
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=)	1303	COL12A1	Benign/Likely benign	80102965	RCV000553153\|RCV001576298;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75851788	75851788	6:g.75851788G>A	ClinGen:CA3893311	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)	1303	COL12A1	Uncertain significance	-1	RCV002295259;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75851792	75851792	75851792	-
NM_004370.6(COL12A1):c.4905T>A (p.Ser1635=)	1303	COL12A1	Likely benign	1262898971	RCV001396600;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851800	75851800	75851800	-
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile)	1303	COL12A1	Uncertain significance	772992461	RCV001342679\|RCV001587361;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75851805	75851805	75851805	-
NM_004370.6(COL12A1):c.4899C>T (p.Ser1633=)	1303	COL12A1	Likely benign	762832336	RCV001483304;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851806	75851806	6:g.75851806G>A	-
NM_004370.6(COL12A1):c.4893A>G (p.Thr1631=)	1303	COL12A1	Likely benign	1219807352	RCV001505684;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851812	75851812	75851812	-
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser)	1303	COL12A1	Uncertain significance	773883741	RCV002041986;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851814	75851814	75851814	-
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)	1303	COL12A1	Uncertain significance	759038011	RCV000820098\|RCV003372882;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75851817	75851817	6:g.75851817A>G	-
NM_004370.6(COL12A1):c.4885T>C (p.Leu1629=)	1303	COL12A1	Likely benign	767188736	RCV001402452;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851820	75851820	6:g.75851820A>G	-
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile)	1303	COL12A1	Uncertain significance	368180489	RCV001915383;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851822	75851822	75851822	-
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala)	1303	COL12A1	Benign/Likely benign	77654847	RCV000652928\|RCV001551194;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75851829	75851829	6:g.75851829A>C	ClinGen:CA3893321	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4864A>G (p.Lys1622Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	754277446	RCV000794656\|RCV003144596;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75851841	75851841	6:g.75851841T>C	-
NM_004370.6(COL12A1):c.4856C>G (p.Thr1619Ser)	1303	COL12A1	Uncertain significance	757815790	RCV001316116;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851849	75851849	75851849	-
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile)	1303	COL12A1	Uncertain significance	765702033	RCV000702335;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851852	75851852	NC_000006.11:g.75851852C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4851C>G (p.Thr1617=)	1303	COL12A1	Likely benign	-1	RCV002931997;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851854	75851854		-
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro)	1303	COL12A1	Uncertain significance	750511139	RCV001913807;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851856	75851856	75851856	-
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)	1303	COL12A1	Uncertain significance	-1	RCV002847971\|RCV003154262;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75851866	75851866	NC_000006.11:g.75851866G>T	-
NM_004370.6(COL12A1):c.4833G>A (p.Glu1611=)	1303	COL12A1	Likely benign	369793258	RCV002205610;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851872	75851872	75851872	-
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)	1303	COL12A1	Uncertain significance	374525546	RCV001314020\|RCV001556148\|RCV003263944;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75851877	75851877	75851877	-
NM_004370.6(COL12A1):c.4828-8T>C	1303	COL12A1	Likely benign	-1	RCV002800176;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75851885	75851885	NC_000006.11:g.75851885A>G	-
NM_004370.6(COL12A1):c.4828-19T>C	1303	COL12A1	Likely benign	-1	RCV002615664;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75851896	75851896	NC_000006.11:g.75851896A>G	-
NM_004370.6(COL12A1):c.4827+16T>C	1303	COL12A1	Likely benign	535965773	RCV002097437;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852952	75852952	75852952	-
NM_004370.6(COL12A1):c.4827+3A>G	1303	COL12A1	Uncertain significance	-1	RCV002894677;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852965	75852965	NC_000006.11:g.75852965T>C	-
NM_004370.6(COL12A1):c.4815G>A (p.Glu1605=)	1303	COL12A1	Likely benign	567079114	RCV001442751;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852980	75852980	75852980	-
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	200034130	RCV000803824\|RCV001509279;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75852988	75852988	6:g.75852988G>C	-
NM_004370.6(COL12A1):c.4806A>G (p.Thr1602=)	1303	COL12A1	Likely benign	1361287372	RCV001402184;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852989	75852989	75852989	-
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu)	1303	COL12A1	Uncertain significance	751657895	RCV002001873;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852994	75852994	75852994	-
NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)	1303	COL12A1	Conflicting interpretations of pathogenicity	180718181	RCV000441031\|RCV000798902;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852997	75852997	NC_000006.11:g.75852997A>G	ClinGen:CA3893347	CN169374 not specified;
NM_004370.6(COL12A1):c.4797A>T (p.Arg1599=)	1303	COL12A1	Likely benign	1025841228	RCV000982320;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852998	75852998	6:g.75852998T>A	-
NM_004370.6(COL12A1):c.4796G>A (p.Arg1599Gln)	1303	COL12A1	Uncertain significance	781463654	RCV001349608;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75852999	75852999	75852999	-
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)	1303	COL12A1	Uncertain significance	1172593477	RCV001209076;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853006	75853006	6:g.75853006T>C	-
NM_004370.6(COL12A1):c.4788T>C (p.Tyr1596=)	1303	COL12A1	Likely benign	749072028	RCV002120301;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853007	75853007	75853007	-
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)	1303	COL12A1	Conflicting interpretations of pathogenicity	373006852	RCV001352429\|RCV001580593;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75853014	75853014	75853014	-
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro)	1303	COL12A1	Uncertain significance	373006852	RCV002009274;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853014	75853014	75853014	-
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)	1303	COL12A1	Uncertain significance	-1	RCV003087230;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853015	75853015	NC_000006.11:g.75853015G>A	-
NM_004370.6(COL12A1):c.4773A>G (p.Gly1591=)	1303	COL12A1	Likely benign	1464793469	RCV001422221;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853022	75853022	75853022	-
NM_004370.6(COL12A1):c.4762C>A (p.Pro1588Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	772069524	RCV001046112\|RCV003145283;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75853033	75853033	6:g.75853033G>T	-
NM_004370.6(COL12A1):c.4761A>G (p.Glu1587=)	1303	COL12A1	Likely benign	-1	RCV002894831;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853034	75853034		-
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)	1303	COL12A1	Uncertain significance	775117257	RCV001242177;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853036	75853036	6:g.75853036C>G	-
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	200520924	RCV000652923\|RCV002282293;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75853051	75853051	6:g.75853051T>G	ClinGen:CA3893356	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4737C>T (p.His1579=)	1303	COL12A1	Likely benign	765450196	RCV001484791;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853058	75853058	6:g.75853058G>A	-
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)	1303	COL12A1	Uncertain significance	-1	RCV002589680;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75853071	75853071	NC_000006.11:g.75853071C>T	-
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly)	1303	COL12A1	Uncertain significance	1490798316	RCV000520015\|RCV000805659;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853072	75853072	NC_000006.11:g.75853072T>C	ClinGen:CA364742374	CN169374 not specified;
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)	1303	COL12A1	Uncertain significance	1246397590	RCV001217421\|RCV003442777\|RCV003405402;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75853082	75853082	6:g.75853082A>T	-
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)	1303	COL12A1	Uncertain significance	-1	RCV003087852;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853090	75853090	NC_000006.11:g.75853090G>A	-
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly)	1303	COL12A1	Uncertain significance	1767009455	RCV001360678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853093	75853093	75853093	-
NM_004370.6(COL12A1):c.4701C>G (p.Pro1567=)	1303	COL12A1	Likely benign	17791238	RCV000652930\|RCV001312074;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75853094	75853094	NC_000006.11:g.75853094G>C	ClinGen:CA3893363	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4701C>A (p.Pro1567=)	1303	COL12A1	Likely benign	17791238	RCV001430467;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853094	75853094	75853094	-
NM_004370.6(COL12A1):c.4698A>G (p.Leu1566=)	1303	COL12A1	Likely benign	1429126907	RCV001447096;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853097	75853097	6:g.75853097T>C	-
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser)	1303	COL12A1	Uncertain significance	2149402848	RCV001968197;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853098	75853098	75853098	-
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser)	1303	COL12A1	Uncertain significance	1554181762	RCV000523311\|RCV000811756;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853104	75853104	NC_000006.11:g.75853104A>G	ClinGen:CA364742532	CN169374 not specified;
NM_004370.6(COL12A1):c.4691-8T>A	1303	COL12A1	Uncertain significance	-1	RCV003064031;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75853112	75853112	NC_000006.11:g.75853112A>T	-
NM_004370.6(COL12A1):c.4691-12G>A	1303	COL12A1	Benign/Likely benign	146472530	RCV000253331\|RCV001560107\|RCV002058158;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75853116	75853116	NC_000006.11:g.75853116C>T	ClinGen:CA3893366	CN169374 not specified;
NM_004370.6(COL12A1):c.4691-13C>T	1303	COL12A1	Likely benign	-1	RCV002735115;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853117	75853117	NC_000006.11:g.75853117G>A	-
NM_004370.6(COL12A1):c.4691-16T>G	1303	COL12A1	Likely benign	750281471	RCV001921931;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75853120	75853120	75853120	-
NM_004370.6(COL12A1):c.4690+19T>C	1303	COL12A1	Likely benign	-1	RCV002596381;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855023	75855023	NC_000006.11:g.75855023A>G	-
NM_004370.6(COL12A1):c.4690+17T>C	1303	COL12A1	Likely benign	-1	RCV002612509;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855025	75855025	NC_000006.11:g.75855025A>G	-
NM_004370.6(COL12A1):c.4690+8A>T	1303	COL12A1	Likely benign	760044445	RCV001434959;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855034	75855034	75855034	-
NM_004370.6(COL12A1):c.4690+7T>C	1303	COL12A1	Likely benign	1364868781	RCV001441318;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855035	75855035	75855035	-
NM_004370.6(COL12A1):c.4690+5G>A	1303	COL12A1	Uncertain significance	1767120188	RCV001343917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855037	75855037	75855037	-
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)	1303	COL12A1	Uncertain significance	1767120492	RCV001247228;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855043	75855043	6:g.75855043G>A	-
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)	1303	COL12A1	Uncertain significance	944222774	RCV001989821\|RCV002563569;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75855050	75855050	75855050	-
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV003073479\|RCV003081974;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75855053	75855053	NC_000006.11:g.75855053C>T	-
NM_004370.6(COL12A1):c.4678C>T (p.Arg1560Trp)	1303	COL12A1	Conflicting interpretations of pathogenicity	370360673	RCV000795382\|RCV003228989;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75855054	75855054	6:g.75855054G>A	-
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala)	1303	COL12A1	Uncertain significance	1562217199	RCV000687091;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855056	75855056	6:g.75855056A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4675G>A (p.Val1559Ile)	1303	COL12A1	Likely benign	373826197	RCV001049374;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855057	75855057	6:g.75855057C>T	-
NM_004370.6(COL12A1):c.4674T>A (p.Thr1558=)	1303	COL12A1	Likely benign	1767121915	RCV002190723;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855058	75855058	75855058	-
NM_004370.6(COL12A1):c.4671C>T (p.Val1557=)	1303	COL12A1	Likely benign	-1	RCV002634432;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855061	75855061		-
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn)	1303	COL12A1	Uncertain significance	780006734	RCV001871186;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855071	75855071	75855071	-
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)	1303	COL12A1	Uncertain significance	1044813586	RCV001058291;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855075	75855075	6:g.75855075T>A	-
NM_004370.6(COL12A1):c.4656C>A (p.Leu1552=)	1303	COL12A1	Likely benign	2149405550	RCV002080575;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855076	75855076	75855076	-
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu)	1303	COL12A1	Uncertain significance	74383804	RCV002018116;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855079	75855079	75855079	-
NM_004370.6(COL12A1):c.4651G>A (p.Asp1551Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	76453279	RCV001209275\|RCV003145381;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75855081	75855081	6:g.75855081C>T	-
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)	1303	COL12A1	Likely benign	754993978	RCV001327377;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855082	75855082	75855082	-
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)	1303	COL12A1	Benign	-1	RCV002624839;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855082	75855082		-
NM_004370.6(COL12A1):c.4647G>A (p.Leu1549=)	1303	COL12A1	Likely benign	-1	RCV003080222;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855085	75855085		-
NM_004370.6(COL12A1):c.4644C>T (p.Val1548=)	1303	COL12A1	Likely benign	747738369	RCV001459575;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855088	75855088	75855088	-
NM_004370.6(COL12A1):c.4630A>G (p.Thr1544Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	777544552	RCV001055723\|RCV003145307;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75855102	75855102	6:g.75855102T>C	-
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile)	1303	COL12A1	Uncertain significance	771220392	RCV002015994;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855105	75855105	75855105	-
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp)	1303	COL12A1	Uncertain significance	367865394	RCV001314652;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855112	75855112	75855112	-
NM_004370.6(COL12A1):c.4620G>A (p.Glu1540=)	1303	COL12A1	Likely benign	-1	RCV003006121;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855112	75855112		-
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	373216375	RCV001040597\|RCV003145267\|RCV003160265;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75855116	75855116	6:g.75855116G>A	-
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)	1303	COL12A1	Uncertain significance	373216375	RCV001922530\|RCV003146320;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75855116	75855116	75855116	-
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	115246424	RCV000531413\|RCV001420886\|RCV002466535;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN169374\|MedGen:C3661900	6	75855119	75855119	6:g.75855119T>C	ClinGen:CA3893401	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)	1303	COL12A1	Uncertain significance	-1	RCV003040977;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855119	75855119	NC_000006.11:g.75855119T>A	-
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)	1303	COL12A1	Uncertain significance	1028650601	RCV001042977;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855123	75855123	6:g.75855123G>A	-
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)	1303	COL12A1	Uncertain significance	-1	RCV003033215;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855135	75855135	NC_000006.11:g.75855135T>C	-
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)	1303	COL12A1	Uncertain significance	-1	RCV003107241;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855142	75855142	NC_000006.11:g.75855142C>T	-
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)	1303	COL12A1	Uncertain significance	1767128506	RCV001237898;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855143	75855143	6:g.75855143A>T	-
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)	1303	COL12A1	Uncertain significance	1767128506	RCV001991958;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855143	75855143	75855143	-
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)	1303	COL12A1	Uncertain significance	1226808307	RCV001048307;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855144	75855144	6:g.75855144T>A	-
NM_004370.6(COL12A1):c.4587C>T (p.Asp1529=)	1303	COL12A1	Likely benign	762128925	RCV000882000;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855145	75855145	6:g.75855145G>A	-
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met)	1303	COL12A1	Uncertain significance	1326246352	RCV000801886\|RCV001585726;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75855153	75855153	6:g.75855153C>T	-
NM_004370.6(COL12A1):c.4572G>A (p.Gly1524=)	1303	COL12A1	Likely benign	1767129736	RCV001432487;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855160	75855160	75855160	-
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)	1303	COL12A1	Uncertain significance	556742432	RCV001070038;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855161	75855161	6:g.75855161C>T	-
NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)	1303	COL12A1	Conflicting interpretations of pathogenicity	751419788	RCV000805373\|RCV001559639;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75855167	75855167	6:g.75855167C>T	-
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	574863380	RCV000519676\|RCV001857946\|RCV003302754;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75855168	75855168	6:g.75855168G>A	ClinGen:CA3893407	CN169374 not specified;
NM_004370.6(COL12A1):c.4564C>G (p.Arg1522Gly)	1303	COL12A1	Likely benign	574863380	RCV001056460;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855168	75855168	6:g.75855168G>C	-
NM_004370.6(COL12A1):c.4561-7_4561-2del	1303	COL12A1	Likely benign	1582127639	RCV001438609;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855173	75855178	6:g.75855173_75855178del	-
NM_004370.6(COL12A1):c.4561-4G>A	1303	COL12A1	Likely benign	148650016	RCV002542197;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855175	75855175	6:g.75855175C>T	-
NM_004370.6(COL12A1):c.4561-6G>A	1303	COL12A1	Likely benign	560550352	RCV001415385;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855177	75855177	6:g.75855177C>T	-
NM_004370.6(COL12A1):c.4561-7T>C	1303	COL12A1	Likely benign	-1	RCV002611125;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855178	75855178	NC_000006.11:g.75855178A>G	-
NM_004370.6(COL12A1):c.4561-15C>T	1303	COL12A1	Likely benign	777154641	RCV002078040;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855186	75855186	75855186	-
NM_004370.6(COL12A1):c.4561-18C>T	1303	COL12A1	Likely benign	-1	RCV002717226;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855189	75855189	NC_000006.11:g.75855189G>A	-
NM_004370.6(COL12A1):c.4560+10G>C	1303	COL12A1	Likely benign	372490462	RCV002157346;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855808	75855808	75855808	-
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)	1303	COL12A1	Uncertain significance	767232468	RCV001048654;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855822	75855822	6:g.75855822T>A	-
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)	1303	COL12A1	Uncertain significance	-1	RCV002573671;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855832	75855832	NC_000006.11:g.75855832T>C	-
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu)	1303	COL12A1	Uncertain significance	763614780	RCV001979576\|RCV003170230;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75855847	75855847	75855847	-
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)	1303	COL12A1	Uncertain significance	1767180643	RCV001232469;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855858	75855858	6:g.75855858T>C	-
NM_004370.6(COL12A1):c.4518A>G (p.Ser1506=)	1303	COL12A1	Likely benign	201039857	RCV002213225;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855860	75855860	75855860	-
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)	1303	COL12A1	Uncertain significance	-1	RCV003089742;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855864	75855864	NC_000006.11:g.75855864A>G	-
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val)	1303	COL12A1	Uncertain significance	1582129070	RCV000795608;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855868	75855868	6:g.75855868T>C	-
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=)	1303	COL12A1	Uncertain significance	199901074	RCV001875034;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855872	75855872	75855872	-
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)	1303	COL12A1	Uncertain significance	-1	RCV003005919;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855876	75855876	NC_000006.11:g.75855876G>A	-
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)	1303	COL12A1	Uncertain significance	-1	RCV002619563;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855879	75855879	NC_000006.11:g.75855879G>A	-
NM_004370.6(COL12A1):c.4488T>C (p.Pro1496=)	1303	COL12A1	Likely benign	2149407078	RCV001433944;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855890	75855890	75855890	-
NM_004370.6(COL12A1):c.4479G>A (p.Gln1493=)	1303	COL12A1	Likely benign	370024636	RCV000243383\|RCV000542685;	N	MedGen:CN169374\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855899	75855899	NC_000006.11:g.75855899C>T	ClinGen:CA3893437	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4476G>A (p.Val1492=)	1303	COL12A1	Likely benign	1267756642	RCV001448406;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855902	75855902	6:g.75855902C>T	-
NM_004370.6(COL12A1):c.4464C>T (p.Thr1488=)	1303	COL12A1	Likely benign	763276220	RCV001448222;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855914	75855914	75855914	-
NM_004370.6(COL12A1):c.4463C>A (p.Thr1488Asn)	1303	COL12A1	Uncertain significance	771864984	RCV001776823\|RCV002034524;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855915	75855915	75855915	-
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)	1303	COL12A1	Uncertain significance	-1	RCV002771342\|RCV003232671;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75855915	75855915	NC_000006.11:g.75855915G>C	-
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser)	1303	COL12A1	Uncertain significance	1220345277	RCV001884750;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855919	75855919	75855919	-
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val)	1303	COL12A1	Uncertain significance	1353013260	RCV001319123;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855921	75855921	75855921	-
NM_004370.6(COL12A1):c.4452T>C (p.Asp1484=)	1303	COL12A1	Likely benign	202092920	RCV000960720;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855926	75855926	6:g.75855926A>G	-
NM_004370.6(COL12A1):c.4449T>C (p.Tyr1483=)	1303	COL12A1	Likely benign	-1	RCV002647187;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855929	75855929		-
NM_004370.6(COL12A1):c.4445T>C (p.Ile1482Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	760640025	RCV000705382\|RCV003144565;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75855933	75855933	6:g.75855933A>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)	1303	COL12A1	Uncertain significance	-1	RCV003081288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855944	75855944		-
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile)	1303	COL12A1	Uncertain significance	1246887485	RCV001973362\|RCV003146423;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75855946	75855946	75855946	-
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)	1303	COL12A1	Uncertain significance	1767188215	RCV001036630;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855949	75855949	6:g.75855949C>T	-
NM_004370.6(COL12A1):c.4428T>C (p.Pro1476=)	1303	COL12A1	Likely benign	1554182178	RCV000652935;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855950	75855950	6:g.75855950A>G	ClinGen:CA450924259	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4425G>A (p.Val1475=)	1303	COL12A1	Likely benign	372904002	RCV001416843;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855953	75855953	75855953	-
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=)	1303	COL12A1	Benign	558383133	RCV002064875;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855956	75855956	6:g.75855956T>C	-
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)	1303	COL12A1	Uncertain significance	750010185	RCV002045815\|RCV003146486;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75855958	75855958	75855958	-
NM_004370.6(COL12A1):c.4419G>A (p.Leu1473=)	1303	COL12A1	Likely benign	-1	RCV002894616;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855959	75855959		-
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)	1303	COL12A1	Uncertain significance	-1	RCV003047697;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75855959	75855959	NC_000006.11:g.75855959C>A	-
NM_004370.6(COL12A1):c.4418-20C>G	1303	COL12A1	Likely benign	2149407223	RCV002207615;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75855980	75855980	75855980	-
NM_004370.6(COL12A1):c.4417+15_4417+19del	1303	COL12A1	Likely benign	768514093	RCV002128510;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857372	75857376	75857371	-
NM_004370.6(COL12A1):c.4417+5G>A	1303	COL12A1	Uncertain significance	-1	RCV003030740;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75857386	75857386	NC_000006.11:g.75857386C>T	-
NM_004370.6(COL12A1):c.4417+4A>G	1303	COL12A1	Uncertain significance	2149409130	RCV002026014;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857387	75857387	75857387	-
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	771110521	RCV001864237\|RCV002547968\|RCV003322897;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	75857406	75857406	75857406	-
NM_004370.6(COL12A1):c.4393C>G (p.Pro1465Ala)	1303	COL12A1	Likely benign	-1	RCV003078461;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857415	75857415	NC_000006.11:g.75857415G>C	-
NM_004370.6(COL12A1):c.4392G>A (p.Glu1464=)	1303	COL12A1	Likely benign	2149409171	RCV002140788;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857416	75857416	75857416	-
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys)	1303	COL12A1	Uncertain significance	897954123	RCV001918003;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857421	75857421	75857421	-
NM_004370.6(COL12A1):c.4377A>G (p.Glu1459=)	1303	COL12A1	Likely benign	-1	RCV002586280;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857431	75857431		-
NM_004370.6(COL12A1):c.4371G>T (p.Val1457=)	1303	COL12A1	Likely benign	761741355	RCV000527662;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857437	75857437	6:g.75857437C>A	ClinGen:CA3893466	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys)	1303	COL12A1	Uncertain significance	1582131685	RCV000799520;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857444	75857444	6:g.75857444T>C	-
NM_004370.6(COL12A1):c.4362G>T (p.Val1454=)	1303	COL12A1	Likely benign	-1	RCV002838553;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857446	75857446		-
NM_004370.6(COL12A1):c.4359T>C (p.Asn1453=)	1303	COL12A1	Likely benign	749957138	RCV001440013;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857449	75857449	6:g.75857449A>G	-
NM_004370.6(COL12A1):c.4356C>T (p.Val1452=)	1303	COL12A1	Likely benign	765983584	RCV001406416;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857452	75857452	75857452	-
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)	1303	COL12A1	Uncertain significance	-1	RCV002943861;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857453	75857453	NC_000006.11:g.75857453A>G	-
NM_004370.6(COL12A1):c.4338T>C (p.Pro1446=)	1303	COL12A1	Likely benign	2149409308	RCV001440672;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857470	75857470	75857470	-
NM_004370.6(COL12A1):c.4338T>G (p.Pro1446=)	1303	COL12A1	Likely benign	-1	RCV002745465;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857470	75857470		-
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=)	1303	COL12A1	Benign/Likely benign	113549828	RCV000874013\|RCV001537153;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75857473	75857473	6:g.75857473T>C	-
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)	1303	COL12A1	Likely benign	-1	RCV002975422;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75857474	75857474	NC_000006.11:g.75857474T>C	-
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)	1303	COL12A1	Uncertain significance	1767273965	RCV001057756;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857489	75857489	6:g.75857489A>T	-
NM_004370.6(COL12A1):c.4317A>G (p.Thr1439=)	1303	COL12A1	Likely benign	749367997	RCV001506428;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857491	75857491	75857491	-
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn)	1303	COL12A1	Uncertain significance	889393418	RCV000813288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857495	75857495	6:g.75857495C>T	-
NM_004370.6(COL12A1):c.4312A>G (p.Ser1438Gly)	1303	COL12A1	Likely benign	201651899	RCV000705823;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857496	75857496	6:g.75857496T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)	1303	COL12A1	Uncertain significance	779064060	RCV001060282\|RCV003223694;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75857507	75857507	6:g.75857507C>T	-
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu)	1303	COL12A1	Uncertain significance	779064060	RCV001910616\|RCV002557828;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75857507	75857507	75857507	-
NM_004370.6(COL12A1):c.4299T>C (p.Ser1433=)	1303	COL12A1	Likely benign	975876036	RCV002074754;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857509	75857509	75857509	-
NM_004370.6(COL12A1):c.4290T>C (p.Phe1430=)	1303	COL12A1	Likely benign	2149409419	RCV001442846;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857518	75857518	75857518	-
NM_004370.6(COL12A1):c.4288-5C>T	1303	COL12A1	Conflicting interpretations of pathogenicity	544779989	RCV001418367\|RCV001577606;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75857525	75857525	75857525	-
NM_004370.6(COL12A1):c.4288-6C>T	1303	COL12A1	Likely benign	768371908	RCV001988917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857526	75857526	75857526	-
NM_004370.6(COL12A1):c.4288-9T>C	1303	COL12A1	Likely benign	1582131968	RCV001417971;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857529	75857529	6:g.75857529A>G	-
NM_004370.6(COL12A1):c.4288-10T>C	1303	COL12A1	Likely benign	776440408	RCV001434345;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857530	75857530	75857530	-
NM_004370.6(COL12A1):c.4288-12T>A	1303	COL12A1	Likely benign	377491153	RCV002194967;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857532	75857532	75857532	-
NM_004370.6(COL12A1):c.4288-15A>G	1303	COL12A1	Likely benign	2149409487	RCV002102437;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857535	75857535	75857535	-
NM_004370.6(COL12A1):c.4288-19G>C	1303	COL12A1	Likely benign	1554182346	RCV002113981;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75857539	75857539	75857539	-
NC_000006.11:g.(?_75858054)_(75912508_?)dup	1303	COL12A1	Uncertain significance	-1	RCV003113455;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858054	75912508		-
NM_004370.6(COL12A1):c.4287+15C>G	1303	COL12A1	Likely benign	-1	RCV002590934;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858059	75858059	NC_000006.11:g.75858059G>C	-
NM_004370.6(COL12A1):c.4287+4A>T	1303	COL12A1	Uncertain significance	1767305838	RCV001219192;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858070	75858070	6:g.75858070T>A	-
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)	1303	COL12A1	Uncertain significance	1056626609	RCV001072051;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858075	75858075	6:g.75858075T>A	-
NM_004370.6(COL12A1):c.4284A>G (p.Gln1428=)	1303	COL12A1	Likely benign	1767306131	RCV002213083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858077	75858077	75858077	-
NM_004370.6(COL12A1):c.4281T>A (p.Arg1427=)	1303	COL12A1	Likely benign	-1	RCV003092440;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858080	75858080		-
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)	1303	COL12A1	Uncertain significance	1033545876	RCV001203527\|RCV003163536;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75858081	75858081	6:g.75858081C>T	-
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser)	1303	COL12A1	Uncertain significance	779038394	RCV001937931;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858082	75858082	75858082	-
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)	1303	COL12A1	Benign	371112796	RCV001933633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858086	75858086	75858086	-
NM_004370.6(COL12A1):c.4269T>C (p.Ser1423=)	1303	COL12A1	Likely benign	2149410457	RCV002160106;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858092	75858092	75858092	-
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)	1303	COL12A1	Uncertain significance	758640189	RCV000553937\|RCV003144364;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75858106	75858106	NC_000006.11:g.75858106A>T	ClinGen:CA3893501	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)	1303	COL12A1	Uncertain significance	758640189	RCV001202829;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858106	75858106	6:g.75858106A>C	-
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)	1303	COL12A1	Uncertain significance	-1	RCV003047871;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858107	75858107	NC_000006.11:g.75858107T>A	-
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=)	1303	COL12A1	Benign/Likely benign	34830422	RCV000252790\|RCV000538889\|RCV001589261;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75858116	75858116	NC_000006.11:g.75858116A>G	ClinGen:CA3893503	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4241G>A (p.Arg1414Gln)	1303	COL12A1	Likely benign	769711983	RCV001205229;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858120	75858120	6:g.75858120C>T	-
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)	1303	COL12A1	Uncertain significance	-1	RCV003018002;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858120	75858120	NC_000006.11:g.75858120C>G	-
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly)	1303	COL12A1	Uncertain significance	1385334403	RCV001932137;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858130	75858130	75858130	-
NM_004370.6(COL12A1):c.4223C>T (p.Pro1408Leu)	1303	COL12A1	Likely benign	773936793	RCV001069578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858138	75858138	6:g.75858138G>A	-
NM_004370.6(COL12A1):c.4221A>G (p.Pro1407=)	1303	COL12A1	Likely benign	2149410580	RCV002196250;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858140	75858140	75858140	-
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)	1303	COL12A1	Conflicting interpretations of pathogenicity	200125060	RCV001216062\|RCV003145400\|RCV003363174;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75858165	75858165	6:g.75858165C>T	-
NM_004370.6(COL12A1):c.4191C>T (p.Thr1397=)	1303	COL12A1	Likely benign	754233830	RCV001417738;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858170	75858170	75858170	-
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser)	1303	COL12A1	Uncertain significance	1767312990	RCV001316871;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858171	75858171	75858171	-
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln)	1303	COL12A1	Benign/Likely benign	370549168	RCV000819139\|RCV003432779;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75858174	75858174	6:g.75858174C>T	-
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=)	1303	COL12A1	Benign/Likely benign	115511838	RCV000528723\|RCV001564418;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75858175	75858175	6:g.75858175G>T	ClinGen:CA3893517	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4181C>G (p.Ser1394Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002300800\|RCV003097870;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858180	75858180	75858180	-
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val)	1303	COL12A1	Uncertain significance	1582133150	RCV000799253;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858184	75858184	6:g.75858184T>C	-
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)	1303	COL12A1	Uncertain significance	1767315080	RCV001040179;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858194	75858196	6:g.75858194_75858196del	-
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr)	1303	COL12A1	Uncertain significance	2149410743	RCV001368986;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858202	75858202	75858202	-
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp)	1303	COL12A1	Uncertain significance	1183950908	RCV001294750;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858213	75858213	75858213	-
NM_004370.6(COL12A1):c.4148-4G>A	1303	COL12A1	Likely benign	146899194	RCV000956213;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75858217	75858217	6:g.75858217C>T	-
NM_004370.6(COL12A1):c.4148-15dup	1303	COL12A1	Likely benign	1227725033	RCV001960655;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858227	75858228	75858227	-
NM_004370.6(COL12A1):c.4148-20C>A	1303	COL12A1	Likely benign	1767317341	RCV002072540;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75858233	75858233	75858233	-
NM_004370.6(COL12A1):c.4147+3A>G	1303	COL12A1	Uncertain significance	-1	RCV002927527;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860854	75860854	NC_000006.11:g.75860854T>C	-
NM_004370.6(COL12A1):c.4143T>C (p.Gly1381=)	1303	COL12A1	Likely benign	1171598389	RCV001450493;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860861	75860861	75860861	-
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)	1303	COL12A1	Uncertain significance	1033092764	RCV001063122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860871	75860871	6:g.75860871C>T	-
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys)	1303	COL12A1	Uncertain significance	1405840866	RCV001319778\|RCV003145565;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75860872	75860872	75860872	-
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser)	1303	COL12A1	Uncertain significance	1268978531	RCV002008173;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860886	75860886	75860886	-
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val)	1303	COL12A1	Uncertain significance	2149415217	RCV001892456;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860887	75860887	75860887	-
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile)	1303	COL12A1	Uncertain significance	2149415231	RCV001968578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860889	75860889	75860889	-
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly)	1303	COL12A1	Uncertain significance	2149415249	RCV002011092\|RCV003146473;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75860898	75860898	75860898	-
NM_004370.6(COL12A1):c.4105G>T (p.Asp1369Tyr)	1303	COL12A1	Uncertain significance	778970645	RCV001882156;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860899	75860899	75860899	-
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)	1303	COL12A1	Uncertain significance	745813975	RCV001202038;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860903	75860903	6:g.75860903T>C	-
NM_004370.6(COL12A1):c.4101A>C (p.Ile1367=)	1303	COL12A1	Likely benign	-1	RCV002909617;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860903	75860903		-
NM_004370.6(COL12A1):c.4098G>A (p.Arg1366=)	1303	COL12A1	Likely benign	771642899	RCV001419392;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860906	75860906	6:g.75860906C>T	-
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)	1303	COL12A1	Uncertain significance	-1	RCV002740018;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860908	75860908	NC_000006.11:g.75860908T>A	-
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser)	1303	COL12A1	Uncertain significance	1562230954	RCV000694440;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860934	75860934	NC_000006.11:g.75860934T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4059C>A (p.Thr1353=)	1303	COL12A1	Likely benign	992754948	RCV001417456;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860945	75860945	6:g.75860945G>T	-
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser)	1303	COL12A1	Uncertain significance	913180274	RCV001962021;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860946	75860946	75860946	-
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn)	1303	COL12A1	Uncertain significance	913180274	RCV001913241;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860946	75860946	75860946	-
NM_004370.6(COL12A1):c.4052A>G (p.Asp1351Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	1295465247	RCV000698027\|RCV001766513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75860952	75860952	6:g.75860952T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)	1303	COL12A1	Uncertain significance	1767469659	RCV001223420;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860953	75860953	6:g.75860953C>T	-
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)	1303	COL12A1	Uncertain significance	-1	RCV002607499;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75860955	75860955	NC_000006.11:g.75860955G>T	-
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)	1303	COL12A1	Uncertain significance	-1	RCV002696291;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860957	75860957	NC_000006.11:g.75860957A>T	-
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)	1303	COL12A1	Uncertain significance	1335085130	RCV001221378;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860962	75860962	6:g.75860962T>C	-
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)	1303	COL12A1	Uncertain significance	-1	RCV002583313;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860964	75860964	NC_000006.11:g.75860964G>A	-
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val)	1303	COL12A1	Uncertain significance	2149415452	RCV001909774;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75860968	75860968	75860968	-
NM_004370.6(COL12A1):c.4026A>G (p.Glu1342=)	1303	COL12A1	Likely benign	2149415478	RCV002214911;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860978	75860978	75860978	-
NM_004370.6(COL12A1):c.4023C>T (p.Val1341=)	1303	COL12A1	Likely benign	751690563	RCV001468464;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860981	75860981	75860981	-
NM_004370.6(COL12A1):c.4020A>G (p.Glu1340=)	1303	COL12A1	Likely benign	1582137847	RCV001450315;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860984	75860984	6:g.75860984T>C	-
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)	1303	COL12A1	Likely benign	1187079906	RCV000684866;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75860994	75860994	6:g.75860994T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe)	1303	COL12A1	Uncertain significance	1554182853	RCV000550165;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861001	75861001	6:g.75861001T>A	ClinGen:CA364747374	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4002T>C (p.Gly1334=)	1303	COL12A1	Likely benign	1425739513	RCV002202032;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861002	75861002	75861002	-
NM_004370.6(COL12A1):c.4001-10G>A	1303	COL12A1	Benign/Likely benign	73749974	RCV000249649\|RCV000535419\|RCV001610644;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75861013	75861013	NC_000006.11:g.75861013C>T	ClinGen:CA3893560	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4001-11C>T	1303	COL12A1	Likely benign	374279219	RCV002092764;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861014	75861014	75861014	-
NM_004370.6(COL12A1):c.4001-11C>A	1303	COL12A1	Uncertain significance	-1	RCV002890076;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861014	75861014	NC_000006.11:g.75861014G>T	-
NM_004370.6(COL12A1):c.4000+18C>T	1303	COL12A1	Likely benign	-1	RCV002725307;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861565	75861565	NC_000006.11:g.75861565G>A	-
NM_004370.6(COL12A1):c.4000+15G>T	1303	COL12A1	Likely benign	-1	RCV002889689;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861568	75861568	NC_000006.11:g.75861568C>A	-
NM_004370.6(COL12A1):c.4000+5G>A	1303	COL12A1	Likely benign	181257320	RCV000524960\|RCV001584353;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75861578	75861578	6:g.75861578C>T	ClinGen:CA3893572	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.4000+4C>G	1303	COL12A1	Uncertain significance	375772555	RCV000415744\|RCV001056080;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861579	75861579	6:g.75861579G>C	ClinGen:CA3893574	CN517202 not provided;
NM_004370.6(COL12A1):c.4000+4C>T	1303	COL12A1	Uncertain significance	375772555	RCV001888027;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861579	75861579	75861579	-
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val)	1303	COL12A1	Uncertain significance	557573017	RCV001367186;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861586	75861586	75861586	-
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val)	1303	COL12A1	Uncertain significance	371419803	RCV001304060\|RCV003145536;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861609	75861609	75861609	-
NM_004370.6(COL12A1):c.3972G>A (p.Lys1324=)	1303	COL12A1	Likely benign	-1	RCV002850898;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861611	75861611		-
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)	1303	COL12A1	Uncertain significance	759722280	RCV000536211;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861616	75861616	6:g.75861616G>C	ClinGen:CA3893577	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3954A>T (p.Ala1318=)	1303	COL12A1	Likely benign	200346099	RCV001392657;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861629	75861629	6:g.75861629T>A	-
NM_004370.6(COL12A1):c.3952G>A (p.Ala1318Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	41269309	RCV001339229\|RCV001587359;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75861631	75861631	75861631	-
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)	1303	COL12A1	Uncertain significance	-1	RCV003071797;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861637	75861637	NC_000006.11:g.75861637C>T	-
NM_004370.6(COL12A1):c.3943G>A (p.Asp1315Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	185615367	RCV001755249\|RCV001885079;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861640	75861640	75861640	-
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)	1303	COL12A1	Uncertain significance	-1	RCV002700926;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861640	75861640	NC_000006.11:g.75861640C>A	-
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu)	1303	COL12A1	Uncertain significance	570245614	RCV002008840;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861641	75861641	75861641	-
NM_004370.6(COL12A1):c.3942C>T (p.Asp1314=)	1303	COL12A1	Likely benign	570245614	RCV002107458;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861641	75861641	75861641	-
NM_004370.6(COL12A1):c.3937C>A (p.Gln1313Lys)	1303	COL12A1	Likely benign	780568012	RCV002016609;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861646	75861646	75861646	-
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg)	1303	COL12A1	Uncertain significance	1260669878	RCV000700376;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861655	75861655	6:g.75861655C>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3927T>C (p.Asp1309=)	1303	COL12A1	Likely benign	-1	RCV002604517;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75861656	75861656		-
NM_004370.6(COL12A1):c.3921T>C (p.Ile1307=)	1303	COL12A1	Likely benign	531318332	RCV001452790;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861662	75861662	75861662	-
NM_004370.6(COL12A1):c.3919A>G (p.Ile1307Val)	1303	COL12A1	Likely benign	749722543	RCV001947346;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861664	75861664	75861664	-
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg)	1303	COL12A1	Uncertain significance	1179021269	RCV000703576;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861678	75861678	NC_000006.11:g.75861678T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3902G>A (p.Arg1301Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002619754\|RCV003143508;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861681	75861681	NC_000006.11:g.75861681C>T	-
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)	1303	COL12A1	Uncertain significance	199757996	RCV000689449\|RCV001775961;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861684	75861684	6:g.75861684G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr)	1303	COL12A1	Uncertain significance	376766442	RCV000687266;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861691	75861691	6:g.75861691G>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)	1303	COL12A1	Uncertain significance	-1	RCV002650256\|RCV003146598;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861691	75861691	NC_000006.11:g.75861691G>A	-
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)	1303	COL12A1	Uncertain significance	-1	RCV003057707;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75861699	75861699	NC_000006.11:g.75861699C>T	-
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly)	1303	COL12A1	Uncertain significance	1231394496	RCV001317222\|RCV003234041;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861702	75861702	75861702	-
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu)	1303	COL12A1	Uncertain significance	1489541121	RCV002042077;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861706	75861706	75861706	-
NM_004370.6(COL12A1):c.3876C>T (p.Thr1292=)	1303	COL12A1	Likely benign	-1	RCV002790815;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75861707	75861707		-
NM_004370.6(COL12A1):c.3872G>A (p.Arg1291Lys)	1303	COL12A1	Likely benign	1194355123	RCV002043064;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861711	75861711	75861711	-
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys)	1303	COL12A1	Uncertain significance	1387157172	RCV001902535;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861714	75861714	75861714	-
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=)	1303	COL12A1	Benign	775456285	RCV001064847;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861722	75861722	6:g.75861722T>C	-
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)	1303	COL12A1	Conflicting interpretations of pathogenicity	191757914	RCV000523224\|RCV000821262;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861726	75861726	NC_000006.11:g.75861726C>T	ClinGen:CA3893597	CN169374 not specified;
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	764448554	RCV000816309\|RCV002534895;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75861727	75861727	6:g.75861727G>A	-
NM_004370.6(COL12A1):c.3836-19C>G	1303	COL12A1	Likely benign	762897672	RCV002149206;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861766	75861766	75861766	-
NM_004370.6(COL12A1):c.3835+18G>A	1303	COL12A1	Likely benign	-1	RCV002923787;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861829	75861829	NC_000006.11:g.75861829C>T	-
NM_004370.6(COL12A1):c.3835+4A>G	1303	COL12A1	Conflicting interpretations of pathogenicity	187358458	RCV000697688\|RCV000998650;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75861843	75861843	6:g.75861843T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)	1303	COL12A1	Uncertain significance	-1	RCV002948067;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861853	75861853	NC_000006.11:g.75861853G>A	-
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)	1303	COL12A1	Uncertain significance	-1	RCV003076874;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861855	75861855	NC_000006.11:g.75861855G>A	-
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)	1303	COL12A1	Uncertain significance	377553583	RCV000489260\|RCV000800891;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861864	75861864	NC_000006.11:g.75861864C>G	ClinGen:CA3893615	CN169374 not specified;
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu)	1303	COL12A1	Uncertain significance	1562233846	RCV000694424;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861868	75861868	6:g.75861868T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)	1303	COL12A1	Uncertain significance	-1	RCV003388794;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861870	75861870		-
NM_004370.6(COL12A1):c.3810G>A (p.Pro1270=)	1303	COL12A1	Likely benign	370675782	RCV000652937;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75861872	75861872	NC_000006.11:g.75861872C>T	ClinGen:CA3893617	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3801A>G (p.Ala1267=)	1303	COL12A1	Likely benign	770806561	RCV001452310;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861881	75861881	75861881	-
NM_004370.6(COL12A1):c.3798G>C (p.Val1266=)	1303	COL12A1	Likely benign	1210652893	RCV000557897;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861884	75861884	NC_000006.11:g.75861884C>G	ClinGen:CA451111525	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	774035582	RCV001823699\|RCV001869823\|RCV003146247;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75861897	75861897	75861897	-
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	370339027	RCV000694591\|RCV001312075\|RCV003338735;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75861900	75861900	NC_000006.11:g.75861900C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3780G>C (p.Lys1260Asn)	1303	COL12A1	Likely benign	767422633	RCV001979142;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861902	75861902	75861902	-
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)	1303	COL12A1	Uncertain significance	375043994	RCV000796094\|RCV003144600;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861908	75861908	6:g.75861908G>T	-
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)	1303	COL12A1	Uncertain significance	375043994	RCV001556906\|RCV002032621\|RCV003264060;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MeSH:D030342,MedGen:C0950123	6	75861908	75861908	75861908	-
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)	1303	COL12A1	Benign	-1	RCV002810662;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75861908	75861908		-
NM_004370.6(COL12A1):c.3767A>T (p.His1256Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	199692759	RCV000522585\|RCV001040866;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861915	75861915	6:g.75861915T>A	ClinGen:CA3893627	CN169374 not specified;
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	199692759	RCV001246276\|RCV001760284;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75861915	75861915	6:g.75861915T>C	-
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)	1303	COL12A1	Uncertain significance	-1	RCV003056566;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861916	75861916	NC_000006.11:g.75861916G>C	-
NM_004370.6(COL12A1):c.3741C>T (p.Pro1247=)	1303	COL12A1	Likely benign	371282637	RCV000878270\|RCV001796299;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75861941	75861941	6:g.75861941G>A	-
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn)	1303	COL12A1	Uncertain significance	1582139804	RCV000816713;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861946	75861946	6:g.75861946C>T	-
NM_004370.6(COL12A1):c.3729T>C (p.Tyr1243=)	1303	COL12A1	Likely benign	374534617	RCV001474137;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861953	75861953	75861953	-
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)	1303	COL12A1	Uncertain significance	368773405	RCV001361782\|RCV002547784\|RCV003317486;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	75861964	75861964	75861964	-
NM_004370.6(COL12A1):c.3716-10G>T	1303	COL12A1	Likely benign	-1	RCV002857494;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861976	75861976	NC_000006.11:g.75861976C>A	-
NM_004370.6(COL12A1):c.3716-20T>C	1303	COL12A1	Likely benign	1176638204	RCV002165818;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75861986	75861986	75861986	-
NM_004370.6(COL12A1):c.3714T>C (p.Ile1238=)	1303	COL12A1	Likely benign	752068052	RCV001361594;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862050	75862050	75862050	-
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr)	1303	COL12A1	Uncertain significance	2149417585	RCV001961662;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862051	75862051	75862051	-
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)	1303	COL12A1	Uncertain significance	-1	RCV003017174;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75862052	75862052	NC_000006.11:g.75862052T>A	-
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)	1303	COL12A1	Uncertain significance	-1	RCV002727275;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862070	75862070	NC_000006.11:g.75862070C>G	-
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val)	1303	COL12A1	Uncertain significance	1449618151	RCV000652922;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75862073	75862073	6:g.75862073T>C	ClinGen:CA364750091	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met)	1303	COL12A1	Uncertain significance	1305647848	RCV001918267;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862088	75862088	75862088	-
NM_004370.6(COL12A1):c.3671G>A (p.Arg1224His)	1303	COL12A1	Conflicting interpretations of pathogenicity	191996302	RCV001216869\|RCV003145401;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75862093	75862093	6:g.75862093C>T	-
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)	1303	COL12A1	Likely benign	748277540	RCV000700949;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862094	75862094	6:g.75862094G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3652G>A (p.Val1218Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	201749138	RCV000945934\|RCV001593138\|RCV001356650;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MedGen:CN169374	6	75862112	75862112	6:g.75862112C>T	-
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=)	1303	COL12A1	Benign/Likely benign	140319205	RCV000652926\|RCV001584509;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75862113	75862113	6:g.75862113G>A	ClinGen:CA3893658	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3650C>A (p.Thr1217Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	1436778165	RCV000701151\|RCV003144555;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75862114	75862114	6:g.75862114G>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)	1303	COL12A1	Uncertain significance	886380438	RCV000692597\|RCV001571616\|RCV002531448;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75862126	75862126	6:g.75862126G>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln)	1303	COL12A1	Uncertain significance	775382202	RCV001948885;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862129	75862129	75862129	-
NM_004370.6(COL12A1):c.3634C>T (p.Arg1212Trp)	1303	COL12A1	Conflicting interpretations of pathogenicity	746929943	RCV001200477\|RCV001039605;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862130	75862130	6:g.75862130G>A	-
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=)	1303	COL12A1	Benign	572531941	RCV000652933;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862134	75862134	6:g.75862134G>A	ClinGen:CA3893662	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)	1303	COL12A1	Uncertain significance	752018748	RCV000803068;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862172	75862172	6:g.75862172C>T	-
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)	1303	COL12A1	Uncertain significance	-1	RCV002690194;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862174	75862174	NC_000006.11:g.75862174T>C	-
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	536615203	RCV000811174\|RCV001585742;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75862194	75862194	6:g.75862194C>T	-
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)	1303	COL12A1	Uncertain significance	990441297	RCV001057706;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862198	75862198	6:g.75862198C>T	-
NM_004370.6(COL12A1):c.3566-5G>A	1303	COL12A1	Likely benign	2149417897	RCV001459771;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862203	75862203	75862203	-
NM_004370.6(COL12A1):c.3566-6T>C	1303	COL12A1	Likely benign	-1	RCV002967777;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75862204	75862204	NC_000006.11:g.75862204A>G	-
NM_004370.6(COL12A1):c.3566-7A>G	1303	COL12A1	Likely benign	-1	RCV002628093;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75862205	75862205	NC_000006.11:g.75862205T>C	-
NM_004370.6(COL12A1):c.3566-8C>A	1303	COL12A1	Likely benign	201709757	RCV001452442;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862206	75862206	6:g.75862206G>T	-
NM_004370.6(COL12A1):c.3566-8C>G	1303	COL12A1	Uncertain significance	201709757	RCV001318776;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862206	75862206	75862206	-
NM_004370.6(COL12A1):c.3566-19C>G	1303	COL12A1	Likely benign	-1	RCV002740291;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75862217	75862217	NC_000006.11:g.75862217G>C	-
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)	1303	COL12A1	Uncertain significance	1190415160	RCV001225453;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864135	75864135	6:g.75864135A>G	-
NM_004370.6(COL12A1):c.3558A>G (p.Leu1186=)	1303	COL12A1	Likely benign	-1	RCV003072147;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864139	75864139		-
NM_004370.6(COL12A1):c.3556T>C (p.Leu1186=)	1303	COL12A1	Likely benign	-1	RCV002612040;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75864141	75864141		-
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)	1303	COL12A1	Uncertain significance	-1	RCV002636968;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75864147	75864147	NC_000006.11:g.75864147G>C	-
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)	1303	COL12A1	Uncertain significance	-1	RCV002605019;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75864153	75864153	NC_000006.11:g.75864153C>T	-
NM_004370.6(COL12A1):c.3535G>A (p.Asp1179Asn)	1303	COL12A1	Likely benign	370641424	RCV001909000;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864162	75864162	75864162	-
NM_004370.6(COL12A1):c.3534C>T (p.Ser1178=)	1303	COL12A1	Likely benign	747982811	RCV000542918\|RCV001584352;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75864163	75864163	NC_000006.11:g.75864163G>A	ClinGen:CA3893698	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3534C>A (p.Ser1178=)	1303	COL12A1	Likely benign	-1	RCV002805594;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75864163	75864163		-
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)	1303	COL12A1	Uncertain significance	-1	RCV002889289;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864168	75864168	NC_000006.11:g.75864168G>T	-
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)	1303	COL12A1	Uncertain significance	1003693918	RCV001068098;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864170	75864170	6:g.75864170G>T	-
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)	1303	COL12A1	Uncertain significance	1767653671	RCV001235387\|RCV001760245;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75864180	75864180	6:g.75864180C>G	-
NM_004370.6(COL12A1):c.3508G>A (p.Val1170Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	201542066	RCV000998651\|RCV001869407;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864189	75864189	6:g.75864189C>T	-
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)	1303	COL12A1	Uncertain significance	-1	RCV003080508;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864200	75864200	NC_000006.11:g.75864200C>T	-
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)	1303	COL12A1	Uncertain significance	-1	RCV002299128;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864204	75864204	75864204	-
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)	1303	COL12A1	Uncertain significance	770692332	RCV000800111\|RCV001776012;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75864212	75864212	6:g.75864212T>A	-
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)	1303	COL12A1	Uncertain significance	770692332	RCV001058871;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864212	75864212	6:g.75864212T>G	-
NM_004370.6(COL12A1):c.3483T>C (p.Phe1161=)	1303	COL12A1	Likely benign	-1	RCV002867224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864214	75864214		-
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)	1303	COL12A1	Uncertain significance	759294983	RCV000686844;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864230	75864230	6:g.75864230T>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)	1303	COL12A1	Conflicting interpretations of pathogenicity	764153192	RCV001042896\|RCV001571233;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75864231	75864231	6:g.75864231T>G	-
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)	1303	COL12A1	Uncertain significance	-1	RCV002720335;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864252	75864252	NC_000006.11:g.75864252C>A	-
NM_004370.6(COL12A1):c.3444-6T>G	1303	COL12A1	Uncertain significance	-1	RCV002907721;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864259	75864259	NC_000006.11:g.75864259A>C	-
NM_004370.6(COL12A1):c.3444-8C>T	1303	COL12A1	Likely benign	765303217	RCV001413982;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75864261	75864261	75864261	-
NM_004370.6(COL12A1):c.3443+20G>A	1303	COL12A1	Likely benign	-1	RCV002639594;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865358	75865358	NC_000006.11:g.75865358C>T	-
NM_004370.6(COL12A1):c.3443+16G>A	1303	COL12A1	Likely benign	371060233	RCV002199400;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865362	75865362	75865362	-
NM_004370.6(COL12A1):c.3443+15C>T	1303	COL12A1	Likely benign	762336310	RCV002077750;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865363	75865363	75865363	-
NM_004370.6(COL12A1):c.3443+10A>T	1303	COL12A1	Likely benign	1217280037	RCV001433761;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865368	75865368	75865368	-
NM_004370.6(COL12A1):c.3438A>G (p.Glu1146=)	1303	COL12A1	Likely benign	-1	RCV002917643;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865383	75865383		-
NM_004370.6(COL12A1):c.3420C>T (p.Asn1140=)	1303	COL12A1	Likely benign	752420015	RCV002107904;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865401	75865401	75865401	-
NM_004370.6(COL12A1):c.3417C>T (p.Asp1139=)	1303	COL12A1	Likely benign	755878864	RCV001429608;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865404	75865404	75865404	-
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)	1303	COL12A1	Uncertain significance	-1	RCV002885152;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865407	75865407	NC_000006.11:g.75865407A>T	-
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)	1303	COL12A1	Uncertain significance	-1	RCV002810710;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865414	75865414	NC_000006.11:g.75865414C>T	-
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)	1303	COL12A1	Uncertain significance	-1	RCV002298412;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75865422	75865422	75865422	-
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)	1303	COL12A1	Uncertain significance	1420617553	RCV001223827;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865425	75865425	6:g.75865425C>G	-
NM_004370.6(COL12A1):c.3396G>A (p.Glu1132=)	1303	COL12A1	Likely benign	1420617553	RCV002112688;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865425	75865425	75865425	-
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	373637483	RCV000518879\|RCV000802768\|RCV002527638;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75865438	75865438	NC_000006.11:g.75865438C>T	ClinGen:CA3893741	CN169374 not specified;
NM_004370.6(COL12A1):c.3374G>A (p.Gly1125Glu)	1303	COL12A1	Likely benign	1029379585	RCV001929007;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865447	75865447	75865447	-
NM_004370.6(COL12A1):c.3372G>A (p.Thr1124=)	1303	COL12A1	Uncertain significance	749287034	RCV001372884;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865449	75865449	75865449	-
NM_004370.6(COL12A1):c.3371C>T (p.Thr1124Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV003037206\|RCV003225248;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75865450	75865450	NC_000006.11:g.75865450G>A	-
NM_004370.6(COL12A1):c.3366C>T (p.His1122=)	1303	COL12A1	Likely benign	2149423139	RCV002103929;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865455	75865455	75865455	-
NM_004370.6(COL12A1):c.3351T>C (p.Tyr1117=)	1303	COL12A1	Likely benign	776878636	RCV001438271;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865470	75865470	75865470	-
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)	1303	COL12A1	Uncertain significance	1582145759	RCV000792522;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865471	75865471	6:g.75865471T>C	-
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys)	1303	COL12A1	Uncertain significance	1337121359	RCV001996936\|RCV002563505;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75865475	75865475	75865475	-
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala)	1303	COL12A1	Uncertain significance	1767720355	RCV002020804;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865480	75865480	75865480	-
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met)	1303	COL12A1	Uncertain significance	2149423183	RCV001366032;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865481	75865481	75865481	-
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His)	1303	COL12A1	Uncertain significance	2149423214	RCV002014044;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865489	75865489	75865489	-
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)	1303	COL12A1	Uncertain significance	1272550670	RCV001216072\|RCV003259161;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75865490	75865490	6:g.75865490G>C	-
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)	1303	COL12A1	Uncertain significance	1767721141	RCV001067882;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865492	75865492	6:g.75865492G>T	-
NM_004370.6(COL12A1):c.3325C>G (p.Pro1109Ala)	1303	COL12A1	Uncertain significance	528319887	RCV000520727\|RCV001323081;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865496	75865496	6:g.75865496G>C	ClinGen:CA3893752	CN169374 not specified;
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln)	1303	COL12A1	Uncertain significance	2149423255	RCV001924096;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865510	75865510	75865510	-
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)	1303	COL12A1	Conflicting interpretations of pathogenicity	1329022055	RCV000537283\|RCV002245013;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75865511	75865511	6:g.75865511G>A	ClinGen:CA364752807	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn)	1303	COL12A1	Uncertain significance	2149423269	RCV001360441;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865516	75865516	75865516	-
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)	1303	COL12A1	Uncertain significance	768943327	RCV000806021\|RCV001776020;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75865525	75865525	6:g.75865525G>T	-
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe)	1303	COL12A1	Uncertain significance	2149423302	RCV001917167;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865534	75865534	75865534	-
NM_004370.6(COL12A1):c.3279C>G (p.Leu1093=)	1303	COL12A1	Likely benign	536622585	RCV000916403\|RCV002065890;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865542	75865542	6:g.75865542G>C	-
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)	1303	COL12A1	Uncertain significance	-1	RCV003039933;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75865550	75865550	NC_000006.11:g.75865550T>C	-
NM_004370.6(COL12A1):c.3270T>C (p.Pro1090=)	1303	COL12A1	Likely benign	765327402	RCV002143634;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865551	75865551	75865551	-
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys)	1303	COL12A1	Uncertain significance	1767727217	RCV001297181;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865561	75865561	75865561	-
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu)	1303	COL12A1	Uncertain significance	2149423356	RCV001974712;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865562	75865562	75865562	-
NM_004370.6(COL12A1):c.3257G>A (p.Arg1086Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV003146719\|RCV003011097;	N	MedGen:CN517202\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75865564	75865564	NC_000006.11:g.75865564C>T	-
NM_004370.6(COL12A1):c.3251-8C>T	1303	COL12A1	Likely benign	754632351	RCV001493210;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865578	75865578	75865578	-
NM_004370.6(COL12A1):c.3250+16T>G	1303	COL12A1	Likely benign	1554183547	RCV002149409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865957	75865957	75865957	-
NM_004370.6(COL12A1):c.3250+7AAT[2]	1303	COL12A1	Likely benign	778868677	RCV002211482;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865958	75865960	75865957	-
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)	1303	COL12A1	Uncertain significance	-1	RCV002912548;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865973	75865973	NC_000006.11:g.75865973C>T	-
NM_004370.6(COL12A1):c.3247A>G (p.Thr1083Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	375221786	RCV001037081\|RCV002274119;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75865976	75865976	6:g.75865976T>C	-
NM_004370.6(COL12A1):c.3245C>G (p.Thr1082Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	762817385	RCV000652917\|RCV001584508;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75865978	75865978	NC_000006.11:g.75865978G>C	ClinGen:CA3893781	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3242G>C (p.Gly1081Ala)	1303	COL12A1	Likely benign	-1	RCV002933760;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75865981	75865981	NC_000006.11:g.75865981C>G	-
NM_004370.6(COL12A1):c.3219A>G (p.Glu1073=)	1303	COL12A1	Likely benign	201270183	RCV000945453;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866004	75866004	6:g.75866004T>C	-
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys)	1303	COL12A1	Uncertain significance	2149424189	RCV001998672;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866006	75866006	75866006	-
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	201852681	RCV000558670\|RCV003243196\|RCV001584351;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	75866021	75866021	6:g.75866021T>C	ClinGen:CA3893785	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)	1303	COL12A1	Uncertain significance	-1	RCV002995051;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866035	75866035	NC_000006.11:g.75866035A>G	-
NM_004370.6(COL12A1):c.3183T>C (p.Tyr1061=)	1303	COL12A1	Likely benign	-1	RCV002890485;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866040	75866040		-
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)	1303	COL12A1	Benign	-1	RCV002598857;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866043	75866043		-
NM_004370.6(COL12A1):c.3176C>A (p.Thr1059Asn)	1303	COL12A1	Likely benign	778135297	RCV001961213;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866047	75866047	75866047	-
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)	1303	COL12A1	Uncertain significance	577784031	RCV002034779\|RCV002034780\|RCV003163997;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75866062	75866062	75866062	-
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter)	1303	COL12A1	Uncertain significance	868543538	RCV001324744;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866063	75866063	75866063	-
NM_004370.6(COL12A1):c.3151G>C (p.Val1051Leu)	1303	COL12A1	Conflicting interpretations of pathogenicity	374540275	RCV000818667\|RCV002255168;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75866072	75866072	6:g.75866072C>G	-
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile)	1303	COL12A1	Uncertain significance	1376226675	RCV001938162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866074	75866074	75866074	-
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu)	1303	COL12A1	Uncertain significance	772210650	RCV002020016;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866077	75866077	75866077	-
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)	1303	COL12A1	Uncertain significance	-1	RCV002659285;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866080	75866080	NC_000006.11:g.75866080G>A	-
NM_004370.6(COL12A1):c.3135C>A (p.Pro1045=)	1303	COL12A1	Likely benign	1582146956	RCV001494403;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866088	75866088	6:g.75866088G>T	-
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala)	1303	COL12A1	Uncertain significance	200490883	RCV000544020;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866093	75866093	NC_000006.11:g.75866093G>C	ClinGen:CA3893794	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly)	1303	COL12A1	Uncertain significance	2149424377	RCV002012214;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866095	75866095	75866095	-
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr)	1303	COL12A1	Uncertain significance	1767764412	RCV001326349\|RCV003145574;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75866098	75866098	75866098	-
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)	1303	COL12A1	Uncertain significance	-1	RCV002962746;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866101	75866101	NC_000006.11:g.75866101G>C	-
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile)	1303	COL12A1	Uncertain significance	1767764943	RCV001905288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866106	75866106	75866106	-
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg)	1303	COL12A1	Uncertain significance	2149424441	RCV001359643;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866123	75866123	75866123	-
NM_004370.6(COL12A1):c.3099T>C (p.His1033=)	1303	COL12A1	Likely benign	751065518	RCV000906469;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866124	75866124	6:g.75866124A>G	-
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)	1303	COL12A1	Uncertain significance	-1	RCV002861479;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866128	75866128	NC_000006.11:g.75866128G>T	-
NM_004370.6(COL12A1):c.3092G>A (p.Arg1031His)	1303	COL12A1	Uncertain significance	752304678	RCV000815602;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866131	75866131	6:g.75866131C>T	-
NM_004370.6(COL12A1):c.3091C>T (p.Arg1031Cys)	1303	COL12A1	Likely benign	575168916	RCV001207095;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866132	75866132	6:g.75866132G>A	-
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)	1303	COL12A1	Uncertain significance	575168916	RCV001935325;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866132	75866132	75866132	-
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys)	1303	COL12A1	Uncertain significance	2149424485	RCV001893068;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866134	75866134	75866134	-
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala)	1303	COL12A1	Uncertain significance	1582147110	RCV000792740;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866137	75866137	6:g.75866137A>G	-
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile)	1303	COL12A1	Uncertain significance	1582147115	RCV000824355;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866138	75866138	6:g.75866138C>T	-
NM_004370.6(COL12A1):c.3080G>A (p.Arg1027His)	1303	COL12A1	Uncertain significance	79863717	RCV001294643;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866143	75866143	75866143	-
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys)	1303	COL12A1	Uncertain significance	760621245	RCV001362383;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866144	75866144	75866144	-
NM_004370.6(COL12A1):c.3070G>A (p.Val1024Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	200985706	RCV001229258\|RCV001509280;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75866153	75866153	6:g.75866153C>T	-
NM_004370.6(COL12A1):c.3069C>T (p.Val1023=)	1303	COL12A1	Likely benign	746395625	RCV000912761;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866154	75866154	6:g.75866154G>A	-
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)	1303	COL12A1	Uncertain significance	-1	RCV002780782;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866156	75866156	NC_000006.11:g.75866156C>T	-
NM_004370.6(COL12A1):c.3057A>G (p.Ala1019=)	1303	COL12A1	Likely benign	753423916	RCV001501533;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866166	75866166	75866166	-
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)	1303	COL12A1	Uncertain significance	774087407	RCV001209256\|RCV003414001;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|	6	75866179	75866179	6:g.75866179G>T	-
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)	1303	COL12A1	Uncertain significance	-1	RCV002299650\|RCV003319515;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75866188	75866188	75866188	-
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val)	1303	COL12A1	Uncertain significance	1188543260	RCV000652918;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866189	75866189	6:g.75866189T>C	ClinGen:CA364754682	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3033A>C (p.Thr1011=)	1303	COL12A1	Likely benign	1424598359	RCV001416585\|RCV001566803;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75866190	75866190	75866190	-
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala)	1303	COL12A1	Uncertain significance	1767774122	RCV001339279;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866192	75866192	75866192	-
NM_004370.6(COL12A1):c.3021A>G (p.Glu1007=)	1303	COL12A1	Likely benign	368940290	RCV000533518\|RCV001439446;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866202	75866202	6:g.75866202T>C	ClinGen:CA3893818	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.3009A>G (p.Lys1003=)	1303	COL12A1	Uncertain significance	910433493	RCV001893976;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866214	75866214	75866214	-
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr)	1303	COL12A1	Uncertain significance	1767775644	RCV001297908;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866227	75866227	75866227	-
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys)	1303	COL12A1	Uncertain significance	1767775935	RCV001350196;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866234	75866234	75866234	-
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)	1303	COL12A1	Uncertain significance	1582147328	RCV001053387;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866236	75866236	6:g.75866236G>A	-
NM_004370.6(COL12A1):c.2984-2A>G	1303	COL12A1	Uncertain significance	760316411	RCV000808468;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866241	75866241	6:g.75866241T>C	-
NM_004370.6(COL12A1):c.2984-3C>T	1303	COL12A1	Uncertain significance	1394199507	RCV001317838\|RCV003145563;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75866242	75866242	75866242	-
NM_004370.6(COL12A1):c.2984-7C>T	1303	COL12A1	Likely benign	-1	RCV003073116;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75866246	75866246	NC_000006.11:g.75866246G>A	-
NM_004370.6(COL12A1):c.2984-18C>A	1303	COL12A1	Likely benign	-1	RCV002640601;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866257	75866257	NC_000006.11:g.75866257G>T	-
NM_004370.6(COL12A1):c.2984-18C>G	1303	COL12A1	Likely benign	-1	RCV002998653;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75866257	75866257	NC_000006.11:g.75866257G>C	-
NM_004370.6(COL12A1):c.2983+12_2983+14del	1303	COL12A1	Likely benign	-1	RCV002775866;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875209	75875211	NC_000006.11:g.75875211_75875213del	-
NM_004370.6(COL12A1):c.2983+11T>C	1303	COL12A1	Likely benign	-1	RCV002995336;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875212	75875212	NC_000006.11:g.75875212A>G	-
NM_004370.6(COL12A1):c.2983+5G>A	1303	COL12A1	Uncertain significance	1064794720	RCV000485523\|RCV001856849;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875218	75875218	6:g.75875218C>T	ClinGen:CA16618308	CN169374 not specified;
NM_004370.6(COL12A1):c.2983+3A>C	1303	COL12A1	Uncertain significance	-1	RCV003046515;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875220	75875220	NC_000006.11:g.75875220T>G	-
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=)	1303	COL12A1	Uncertain significance	1768247192	RCV001308930;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875224	75875224	75875224	-
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)	1303	COL12A1	Uncertain significance	-1	RCV003000224;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875236	75875236	NC_000006.11:g.75875236A>T	-
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	1303	COL12A1	Conflicting interpretations of pathogenicity	201996851	RCV000706135\|RCV002508944\|RCV002534455\|RCV003144567;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0000355,MedGen:C4551860,	6	75875238	75875238	NC_000006.11:g.75875238C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg)	1303	COL12A1	Benign/Likely benign	139332405	RCV000559755\|RCV001551033;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875241	75875241	NC_000006.11:g.75875241C>T	ClinGen:CA3893849	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)	1303	COL12A1	Uncertain significance	752812483	RCV001215805;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875249	75875249	6:g.75875249G>T	-
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	752812483	RCV001755624\|RCV001868762;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875249	75875249	75875249	-
NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	376514006	RCV001234765\|RCV001726461;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875255	75875255	6:g.75875255C>T	-
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)	1303	COL12A1	Uncertain significance	1768250668	RCV001220748;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875256	75875258	6:g.75875256_75875258del	-
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)	1303	COL12A1	Uncertain significance	-1	RCV002597712;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875262	75875262	NC_000006.11:g.75875262C>T	-
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser)	1303	COL12A1	Uncertain significance	944768236	RCV001989377\|RCV003146463;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875273	75875273	75875273	-
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly)	1303	COL12A1	Uncertain significance	1768252416	RCV001918618;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875292	75875292	75875292	-
NM_004370.6(COL12A1):c.2907C>T (p.Thr969=)	1303	COL12A1	Likely benign	-1	RCV003064577;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875299	75875299		-
NM_004370.6(COL12A1):c.2901A>G (p.Pro967=)	1303	COL12A1	Likely benign	-1	RCV003069626;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875305	75875305		-
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)	1303	COL12A1	Uncertain significance	-1	RCV002839258;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875315	75875315	NC_000006.11:g.75875315T>C	-
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His)	1303	COL12A1	Uncertain significance	370188326	RCV002037547;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875316	75875316	75875316	-
NM_004370.6(COL12A1):c.2885T>C (p.Ile962Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	746982506	RCV001753317\|RCV002540680;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875321	75875321	75875321	-
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu)	1303	COL12A1	Uncertain significance	370815575	RCV001325836\|RCV003294303;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75875325	75875325	75875325	-
NM_004370.6(COL12A1):c.2880G>A (p.Thr960=)	1303	COL12A1	Likely benign	374531525	RCV000874619;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875326	75875326	6:g.75875326C>T	-
NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	200698641	RCV000544804\|RCV001591293\|RCV002508939;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202\|MONDO:MONDO:0008029,MedGen:C1834674,OMIM:PS158810, Orphanet:610	6	75875327	75875327	NC_000006.11:g.75875327G>A	ClinGen:CA3893859	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu)	1303	COL12A1	Uncertain significance	1236232001	RCV001337781\|RCV001751658;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875336	75875336	75875336	-
NM_004370.6(COL12A1):c.2865A>G (p.Glu955=)	1303	COL12A1	Likely benign	-1	RCV002705575;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875341	75875341		-
NM_004370.6(COL12A1):c.2862T>G (p.Pro954=)	1303	COL12A1	Likely benign	930413173	RCV002197335;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875344	75875344	75875344	-
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)	1303	COL12A1	Uncertain significance	1253194188	RCV001198482\|RCV001863127;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875355	75875355	6:g.75875355T>C	-
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser)	1303	COL12A1	Uncertain significance	932009209	RCV001949141;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875364	75875364	75875364	-
NM_004370.6(COL12A1):c.2835T>C (p.Asp945=)	1303	COL12A1	Likely benign	777357134	RCV000252688\|RCV001491010;	N	MedGen:CN169374\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875371	75875371	NC_000006.11:g.75875371A>G	ClinGen:CA10586954	CN169374 not specified;
NM_004370.6(COL12A1):c.2832T>C (p.Asp944=)	1303	COL12A1	Likely benign	375540397	RCV002065897;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875374	75875374	6:g.75875374A>G	-
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro)	1303	COL12A1	Uncertain significance	2149438769	RCV001977199\|RCV003156368;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875381	75875381	75875381	-
NM_004370.6(COL12A1):c.2823A>G (p.Ser941=)	1303	COL12A1	Likely benign	760141819	RCV002573295\|RCV001586616;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75875383	75875383	75875383	-
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)	1303	COL12A1	Uncertain significance	-1	RCV003104518;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875386	75875386	NC_000006.11:g.75875386T>G	-
NM_004370.6(COL12A1):c.2814A>G (p.Ser938=)	1303	COL12A1	Likely benign	-1	RCV002843879;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875392	75875392		-
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)	1303	COL12A1	Uncertain significance	-1	RCV002595301\|RCV003143498;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75875406	75875406	NC_000006.11:g.75875406C>T	-
NM_004370.6(COL12A1):c.2799C>T (p.Arg933=)	1303	COL12A1	Likely benign	372499120	RCV002547180;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875407	75875407	6:g.75875407G>A	-
NM_004370.6(COL12A1):c.2798G>A (p.Arg933His)	1303	COL12A1	Likely benign	779848906	RCV000823380;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875408	75875408	6:g.75875408C>T	-
NM_004370.6(COL12A1):c.2797C>T (p.Arg933Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	377223474	RCV000819878\|RCV003151820;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75875409	75875409	6:g.75875409G>A	-
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)	1303	COL12A1	Uncertain significance	-1	RCV002644017;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875409	75875409	NC_000006.11:g.75875409G>C	-
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile)	1303	COL12A1	Uncertain significance	1768259480	RCV001978456;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875412	75875412	75875412	-
NM_004370.6(COL12A1):c.2787A>T (p.Pro929=)	1303	COL12A1	Likely benign	780559642	RCV001462139;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875419	75875419	6:g.75875419T>A	-
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=)	1303	COL12A1	Benign	35429515	RCV000247534\|RCV000530054\|RCV001597010;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75875434	75875434	NC_000006.11:g.75875434A>G	ClinGen:CA3893878	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His)	1303	COL12A1	Uncertain significance	1768261055	RCV001294528;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875436	75875436	75875436	-
NM_004370.6(COL12A1):c.2766G>A (p.Gly922=)	1303	COL12A1	Likely benign	1768261405	RCV002206842;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875440	75875440	75875440	-
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr)	1303	COL12A1	Uncertain significance	1768261723	RCV001298096\|RCV003145522;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75875444	75875444	75875444	-
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)	1303	COL12A1	Uncertain significance	-1	RCV002589124;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875450	75875450	NC_000006.11:g.75875450G>A	-
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	200819563	RCV001367330\|RCV002548593;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75875460	75875460	75875460	-
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val)	1303	COL12A1	Uncertain significance	774904567	RCV001349083;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875462	75875462	75875462	-
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)	1303	COL12A1	Uncertain significance	-1	RCV002296562;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875463	75875463	75875463	-
NM_004370.6(COL12A1):c.2739T>C (p.Thr913=)	1303	COL12A1	Likely benign	1420771479	RCV001478672;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875467	75875467	6:g.75875467A>G	-
NM_004370.6(COL12A1):c.2730T>C (p.Asp910=)	1303	COL12A1	Likely benign	-1	RCV002599225;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875476	75875476		-
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)	1303	COL12A1	Conflicting interpretations of pathogenicity	369193482	RCV000703971\|RCV002305531;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875492	75875492	NC_000006.11:g.75875492C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro)	1303	COL12A1	Uncertain significance	369193482	RCV001346503;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875492	75875492	75875492	-
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)	1303	COL12A1	Uncertain significance	768127770	RCV001303182\|RCV001312076;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75875493	75875493	75875493	-
NM_004370.6(COL12A1):c.2711-5T>G	1303	COL12A1	Uncertain significance	-1	RCV002781318;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875500	75875500	NC_000006.11:g.75875500A>C	-
NM_004370.6(COL12A1):c.2711-9C>A	1303	COL12A1	Likely benign	2149439017	RCV002076319;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875504	75875504	75875504	-
NM_004370.6(COL12A1):c.2711-15dup	1303	COL12A1	Benign	-1	RCV002918087;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75875509	75875510	NC_000006.11:g.75875513dup	-
NM_004370.6(COL12A1):c.2711-15T>C	1303	COL12A1	Benign/Likely benign	74331327	RCV001557418\|RCV002072098;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75875510	75875510	75875510	-
NM_004370.6(COL12A1):c.2710+8_2710+9delinsTTTTCTGAAA	1303	COL12A1	Likely benign	2149451710	RCV001421264;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884745	75884746	75884745	-
NM_004370.6(COL12A1):c.2710+7A>G	1303	COL12A1	Likely benign	969629618	RCV002192509;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884747	75884747	75884747	-
NM_004370.6(COL12A1):c.2706T>G (p.Leu902=)	1303	COL12A1	Likely benign	765497889	RCV002127583;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884758	75884758	75884758	-
NM_004370.6(COL12A1):c.2703A>C (p.Thr901=)	1303	COL12A1	Likely benign	1554186125	RCV000555909;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884761	75884761	6:g.75884761T>G	ClinGen:CA451111552	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)	1303	COL12A1	Uncertain significance	201382636	RCV000541053\|RCV003105959\|RCV003159934;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75884768	75884768	6:g.75884768C>T	ClinGen:CA3893911	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)	1303	COL12A1	Uncertain significance	1768851120	RCV001037266;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884770	75884770	6:g.75884770T>A	-
NM_004370.6(COL12A1):c.2693A>G (p.Glu898Gly)	1303	COL12A1	Uncertain significance	1180402350	RCV001753347\|RCV001885097;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884771	75884771	75884771	-
NM_004370.6(COL12A1):c.2691T>G (p.Gly897=)	1303	COL12A1	Likely benign	1554186131	RCV000652951;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884773	75884773	NC_000006.11:g.75884773A>C	ClinGen:CA451111571	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg)	1303	COL12A1	Uncertain significance	2149451801	RCV002037530;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884775	75884775	75884775	-
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)	1303	COL12A1	Uncertain significance	1415214085	RCV000807564;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884784	75884784	6:g.75884784C>T	-
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)	1303	COL12A1	Uncertain significance	-1	RCV002933193;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884784	75884784	NC_000006.11:g.75884784C>A	-
NM_004370.6(COL12A1):c.2679C>T (p.Asp893=)	1303	COL12A1	Likely benign	747852589	RCV001490943\|RCV003434279;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75884785	75884785	75884785	-
NM_004370.6(COL12A1):c.2664G>A (p.Ala888=)	1303	COL12A1	Likely benign	756052823	RCV001425646\|RCV003432906;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75884800	75884800	6:g.75884800C>T	-
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val)	1303	COL12A1	Uncertain significance	777386471	RCV000799378;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884801	75884801	6:g.75884801G>A	-
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu)	1303	COL12A1	Uncertain significance	777386471	RCV001961178;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884801	75884801	75884801	-
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro)	1303	COL12A1	Uncertain significance	373259425	RCV001295731\|RCV002469370;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75884802	75884802	75884802	-
NM_004370.6(COL12A1):c.2658G>A (p.Leu886=)	1303	COL12A1	Likely benign	376957850	RCV001430547;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884806	75884806	75884806	-
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)	1303	COL12A1	Uncertain significance	-1	RCV002979189;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884808	75884808	NC_000006.11:g.75884808A>T	-
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly)	1303	COL12A1	Uncertain significance	371518967	RCV001985640;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884810	75884810	75884810	-
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)	1303	COL12A1	Uncertain significance	373583477	RCV001230248\|RCV002293514\|RCV003166400;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75884811	75884811	6:g.75884811C>T	-
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)	1303	COL12A1	Uncertain significance	-1	RCV002620288;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884817	75884817	NC_000006.11:g.75884817C>T	-
NM_004370.6(COL12A1):c.2644T>G (p.Ser882Ala)	1303	COL12A1	Uncertain significance	1277353575	RCV001338784;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884820	75884820	75884820	-
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr)	1303	COL12A1	Uncertain significance	568432319	RCV000820483;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884826	75884826	6:g.75884826C>T	-
NM_004370.6(COL12A1):c.2637C>T (p.Tyr879=)	1303	COL12A1	Likely benign	191863996	RCV001404150\|RCV001566212;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75884827	75884827	75884827	-
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	761818931	RCV001906163\|RCV003289193;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75884831	75884831	75884831	-
NM_004370.6(COL12A1):c.2632C>T (p.Gln878Ter)	1303	COL12A1	Likely benign	765303183	RCV001870894;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884832	75884832	75884832	-
NM_004370.6(COL12A1):c.2631A>G (p.Thr877=)	1303	COL12A1	Likely benign	2149451941	RCV002128453;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884833	75884833	75884833	-
NM_004370.6(COL12A1):c.2619G>A (p.Leu873=)	1303	COL12A1	Likely benign	2149451975	RCV002170270;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884845	75884845	75884845	-
NM_004370.6(COL12A1):c.2610G>A (p.Leu870=)	1303	COL12A1	Likely benign	377030726	RCV001391772;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884854	75884854	6:g.75884854C>T	-
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu)	1303	COL12A1	Uncertain significance	764066205	RCV001757335\|RCV001885084;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884859	75884859	75884859	-
NM_004370.6(COL12A1):c.2605G>A (p.Val869Met)	1303	COL12A1	Likely benign	764066205	RCV001980620;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884859	75884859	75884859	-
NM_004370.6(COL12A1):c.2604G>T (p.Thr868=)	1303	COL12A1	Likely benign	554348257	RCV000531016;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884860	75884860	6:g.75884860C>A	ClinGen:CA3893937	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2604G>A (p.Thr868=)	1303	COL12A1	Likely benign	554348257	RCV001492775;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884860	75884860	75884860	-
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	572007088	RCV001236510\|RCV002563860\|RCV003145455;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	75884861	75884861	6:g.75884861G>A	-
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)	1303	COL12A1	Uncertain significance	-1	RCV003145137\|RCV003340663;	N	MedGen:CN517202\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884870	75884870	NC_000006.11:g.75884870G>C	-
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)	1303	COL12A1	Uncertain significance	539562135	RCV001223558;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884872	75884872	6:g.75884872A>C	-
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val)	1303	COL12A1	Uncertain significance	2149452026	RCV001904162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884873	75884873	75884873	-
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	370388701	RCV000685010\|RCV001574909\|RCV002532197\|RCV003420211;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	6	75884876	75884876	6:g.75884876C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met)	1303	COL12A1	Uncertain significance	780466316	RCV001944468\|RCV002267127\|RCV003164166;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75884883	75884883	75884883	-
NM_004370.6(COL12A1):c.2577C>T (p.Val859=)	1303	COL12A1	Likely benign	902436577	RCV001414872;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884887	75884887	6:g.75884887G>A	-
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	201662983	RCV000704914\|RCV001759413;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75884895	75884895	NC_000006.11:g.75884895G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2561del (p.Gly854fs)	1303	COL12A1	Conflicting interpretations of pathogenicity	1582179372	RCV001567119\|RCV002568443;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884903	75884903	75884902	-
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)	1303	COL12A1	Uncertain significance	-1	RCV003035985;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884905	75884905		-
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)	1303	COL12A1	Uncertain significance	771124556	RCV001221279\|RCV003145413;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75884912	75884912	6:g.75884912A>T	-
NM_004370.6(COL12A1):c.2547C>T (p.Thr849=)	1303	COL12A1	Likely benign	-1	RCV003063532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884917	75884917		-
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn)	1303	COL12A1	Uncertain significance	559028883	RCV000652911;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884918	75884918	6:g.75884918G>T	ClinGen:CA364762129	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2541A>G (p.Thr847=)	1303	COL12A1	Likely benign	775341470	RCV002082396;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884923	75884923	75884923	-
NM_004370.6(COL12A1):c.2536G>A (p.Val846Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	368113790	RCV001224156\|RCV002511060;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75884928	75884928	6:g.75884928C>T	-
NM_004370.6(COL12A1):c.2535C>T (p.Leu845=)	1303	COL12A1	Likely benign	372378385	RCV002117717;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884929	75884929	75884929	-
NM_004370.6(COL12A1):c.2529G>A (p.Gln843=)	1303	COL12A1	Likely benign	374489011	RCV002544501;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884935	75884935	6:g.75884935C>T	-
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu)	1303	COL12A1	Uncertain significance	2149452186	RCV002029544;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884936	75884936	75884936	-
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu)	1303	COL12A1	Uncertain significance	2149452194	RCV002024233;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884937	75884937	75884937	-
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu)	1303	COL12A1	Uncertain significance	375671490	RCV001319147\|RCV001788458;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75884942	75884942	75884942	-
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu)	1303	COL12A1	Uncertain significance	2149452205	RCV001996211;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884943	75884943	75884943	-
NM_004370.6(COL12A1):c.2519A>G (p.Lys840Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	1357325121	RCV001753376\|RCV002540693;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884945	75884945	75884945	-
NM_004370.6(COL12A1):c.2499T>C (p.Ser833=)	1303	COL12A1	Likely benign	1013417237	RCV002138255;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884965	75884965	75884965	-
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe)	1303	COL12A1	Uncertain significance	199992321	RCV000652915\|RCV002464282;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75884968	75884968	NC_000006.11:g.75884968T>A	ClinGen:CA3893958	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)	1303	COL12A1	Uncertain significance	-1	RCV002834051;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884970	75884970	NC_000006.11:g.75884970A>T	-
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val)	1303	COL12A1	Uncertain significance	1489423171	RCV001906122;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884976	75884976	75884976	-
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala)	1303	COL12A1	Uncertain significance	1194621615	RCV001312635;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884979	75884979	75884979	-
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=)	1303	COL12A1	Benign	35170847	RCV000242737\|RCV000552611\|RCV001668500;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75884983	75884983	6:g.75884983C>T	ClinGen:CA3893959	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2480C>T (p.Thr827Met)	1303	COL12A1	Likely benign	149832668	RCV000652943;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884984	75884984	NC_000006.11:g.75884984G>A	ClinGen:CA3893960	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2478G>A (p.Thr826=)	1303	COL12A1	Likely benign	781557444	RCV001484233;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75884986	75884986	75884986	-
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met)	1303	COL12A1	Uncertain significance	1369556861	RCV000823363\|RCV001840736;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75884987	75884987	6:g.75884987G>A	-
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)	1303	COL12A1	Uncertain significance	-1	RCV002608417;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75884988	75884988	NC_000006.11:g.75884988T>C	-
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	770324764	RCV001056067\|RCV003160452;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75884991	75884991	6:g.75884991G>C	-
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly)	1303	COL12A1	Uncertain significance	1768877676	RCV001347886;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885003	75885003	75885003	-
NM_004370.6(COL12A1):c.2460A>G (p.Leu820=)	1303	COL12A1	Likely benign	-1	RCV003092577;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885004	75885004		-
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys)	1303	COL12A1	Uncertain significance	371428645	RCV002000993;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885011	75885011	75885011	-
NM_004370.6(COL12A1):c.2445G>A (p.Gly815=)	1303	COL12A1	Likely benign	201021998	RCV001452014\|RCV001581135;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75885019	75885019	75885019	-
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)	1303	COL12A1	Uncertain significance	-1	RCV002820944;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885020	75885020	NC_000006.11:g.75885020C>A	-
NM_004370.6(COL12A1):c.2438-5T>C	1303	COL12A1	Likely benign	1768879542	RCV001056052;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885031	75885031	6:g.75885031A>G	-
NM_004370.6(COL12A1):c.2438-8dup	1303	COL12A1	Benign	1032205753	RCV002129711;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885033	75885034	75885033	-
NM_004370.6(COL12A1):c.2438-14A>C	1303	COL12A1	Likely benign	-1	RCV002943000;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75885040	75885040	NC_000006.11:g.75885040T>G	-
NM_004370.6(COL12A1):c.2437+13T>C	1303	COL12A1	Benign/Likely benign	545025813	RCV001541399\|RCV002071959;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887366	75887366	75887366	-
NM_004370.6(COL12A1):c.2437+6G>A	1303	COL12A1	Uncertain significance	1769033413	RCV001295868;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887373	75887373	75887373	-
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)	1303	COL12A1	Uncertain significance	1769033719	RCV001219828;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887380	75887380	6:g.75887380T>G	-
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)	1303	COL12A1	Uncertain significance	-1	RCV003330272;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887390	75887390		-
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr)	1303	COL12A1	Uncertain significance	772493333	RCV001932172;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887394	75887394	75887394	-
NM_004370.6(COL12A1):c.2418A>G (p.Gly806=)	1303	COL12A1	Likely benign	776558080	RCV001398381;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887398	75887398	6:g.75887398T>C	-
NM_004370.6(COL12A1):c.2410T>G (p.Leu804Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	769631929	RCV001372983\|RCV003145642;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75887406	75887406	75887406	-
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)	1303	COL12A1	Uncertain significance	1769035606	RCV001208987;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887411	75887411	6:g.75887411G>A	-
NM_004370.6(COL12A1):c.2403T>A (p.Gly801=)	1303	COL12A1	Likely benign	750671040	RCV001500633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887413	75887413	6:g.75887413A>T	-
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	772979149	RCV001216234\|RCV002561888;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75887420	75887420	6:g.75887420C>T	-
NM_004370.6(COL12A1):c.2382T>A (p.Pro794=)	1303	COL12A1	Likely benign	-1	RCV003036557;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75887434	75887434		-
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn)	1303	COL12A1	Uncertain significance	759182254	RCV001985771;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887438	75887438	75887438	-
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)	1303	COL12A1	Likely benign	375704787	RCV000695513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887442	75887442	6:g.75887442C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2373T>C (p.Ser791=)	1303	COL12A1	Likely benign	752359605	RCV001492718;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887443	75887443	75887443	-
NM_004370.6(COL12A1):c.2372C>T (p.Ser791Phe)	1303	COL12A1	Conflicting interpretations of pathogenicity	376517147	RCV000983818\|RCV001840778;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75887444	75887444	6:g.75887444G>A	-
NM_004370.6(COL12A1):c.2358G>A (p.Thr786=)	1303	COL12A1	Likely benign	-1	RCV002991478;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75887458	75887458		-
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	148810173	RCV000981736\|RCV001576112;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75887459	75887459	6:g.75887459G>A	-
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu)	1303	COL12A1	Uncertain significance	2149456708	RCV001889133;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887461	75887461	75887461	-
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp)	1303	COL12A1	Uncertain significance	2149456727	RCV002039785;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887475	75887475	75887475	-
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp)	1303	COL12A1	Uncertain significance	931765391	RCV001950526;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887476	75887476	75887476	-
NM_004370.6(COL12A1):c.2334A>G (p.Thr778=)	1303	COL12A1	Likely benign	1582185053	RCV001398915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887482	75887482	6:g.75887482T>C	-
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)	1303	COL12A1	Uncertain significance	-1	RCV002657966;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887489	75887489	NC_000006.11:g.75887489C>T	-
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys)	1303	COL12A1	Uncertain significance	1341266694	RCV000704648\|RCV003318630;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75887492	75887492	NC_000006.11:g.75887492C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	200167099	RCV000812517\|RCV002537374\|RCV003225130;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75887493	75887493	6:g.75887493T>C	-
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	370256196	RCV000686039\|RCV001193906;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN169374	6	75887502	75887502	6:g.75887502G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)	1303	COL12A1	Uncertain significance	-1	RCV002681978;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887504	75887504	NC_000006.11:g.75887504G>A	-
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala)	1303	COL12A1	Uncertain significance	2149456824	RCV002021442;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887508	75887508	75887508	-
NM_004370.6(COL12A1):c.2292G>A (p.Glu764=)	1303	COL12A1	Likely benign	2149456858	RCV002131153;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887524	75887524	75887524	-
NM_004370.6(COL12A1):c.2288G>A (p.Gly763Glu)	1303	COL12A1	Uncertain significance	770965835	RCV001040526;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887528	75887528	6:g.75887528C>T	-
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)	1303	COL12A1	Uncertain significance	-1	RCV003002635;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75887534	75887534	NC_000006.11:g.75887534G>C	-
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe)	1303	COL12A1	Uncertain significance	2149456891	RCV001982822;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887538	75887538	75887538	-
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser)	1303	COL12A1	Benign/Likely benign	141517088	RCV000252155\|RCV000541967\|RCV001582854;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75887541	75887541	NC_000006.11:g.75887541G>A	ClinGen:CA3894014	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2265T>C (p.Ile755=)	1303	COL12A1	Likely benign	982309132	RCV001403825;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887551	75887551	75887551	-
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)	1303	COL12A1	Uncertain significance	1769044982	RCV001214719;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887553	75887553	6:g.75887553T>C	-
NM_004370.6(COL12A1):c.2261G>A (p.Arg754Gln)	1303	COL12A1	Uncertain significance	377480187	RCV001909326;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75887555	75887555	75887555	-
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter)	1303	COL12A1	Uncertain significance	1034315777	RCV001306145;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887556	75887556	75887556	-
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=)	1303	COL12A1	Uncertain significance	370677855	RCV001318943;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887560	75887560	75887560	-
NM_004370.6(COL12A1):c.2244G>A (p.Gly748=)	1303	COL12A1	Likely benign	2149456961	RCV002082762;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887572	75887572	75887572	-
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys)	1303	COL12A1	Uncertain significance	2149457038	RCV002030199;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887600	75887600	75887600	-
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr)	1303	COL12A1	Uncertain significance	750973541	RCV001370298;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887603	75887603	75887603	-
NM_004370.6(COL12A1):c.2196A>G (p.Thr732=)	1303	COL12A1	Likely benign	770644269	RCV001397629;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887620	75887620	6:g.75887620T>C	-
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)	1303	COL12A1	Uncertain significance	1769051365	RCV001040663;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887622	75887622	6:g.75887622T>C	-
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr)	1303	COL12A1	Uncertain significance	1769052023	RCV001323519;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887627	75887627	75887627	-
NM_004370.6(COL12A1):c.2180G>A (p.Arg727Gln)	1303	COL12A1	Likely benign	775023310	RCV000701222;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887636	75887636	6:g.75887636C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu)	1303	COL12A1	Uncertain significance	1341300538	RCV000794028\|RCV003322821;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75887642	75887642	6:g.75887642G>T	-
NM_004370.6(COL12A1):c.2173G>T (p.Ala725Ser)	1303	COL12A1	Likely benign	984509796	RCV000814846;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887643	75887643	6:g.75887643C>A	-
NM_004370.6(COL12A1):c.2173G>A (p.Ala725Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	984509796	RCV001217775\|RCV001751409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75887643	75887643	6:g.75887643C>T	-
NM_004370.6(COL12A1):c.2172A>T (p.Gly724=)	1303	COL12A1	Likely benign	-1	RCV003045200;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887644	75887644		-
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu)	1303	COL12A1	Uncertain significance	199503279	RCV001921903;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887651	75887651	75887651	-
NM_004370.6(COL12A1):c.2165-4T>C	1303	COL12A1	Likely benign	-1	RCV002880560;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887655	75887655	NC_000006.11:g.75887655A>G	-
NM_004370.6(COL12A1):c.2165-8T>C	1303	COL12A1	Likely benign	909913796	RCV001481877;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75887659	75887659	75887659	-
NM_004370.6(COL12A1):c.2164+18C>A	1303	COL12A1	Benign/Likely benign	183023584	RCV001553028\|RCV002072060;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890637	75890637	75890637	-
NM_004370.6(COL12A1):c.2164+8G>C	1303	COL12A1	Likely benign	-1	RCV003116816;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890647	75890647	NC_000006.11:g.75890647C>G	-
NM_004370.6(COL12A1):c.2164+6A>T	1303	COL12A1	Uncertain significance	746467248	RCV001371012;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890649	75890649	75890649	-
NM_004370.6(COL12A1):c.2164+6A>G	1303	COL12A1	Uncertain significance	746467248	RCV002047050;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890649	75890649	75890649	-
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	768052470	RCV000819404\|RCV001766730;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890661	75890661	6:g.75890661C>T	-
NM_004370.6(COL12A1):c.2157C>T (p.Thr719=)	1303	COL12A1	Likely benign	776302292	RCV000916670\|RCV001593129;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890662	75890662	6:g.75890662G>A	-
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)	1303	COL12A1	Uncertain significance	-1	RCV003095360;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890672	75890672	NC_000006.11:g.75890672T>G	-
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val)	1303	COL12A1	Uncertain significance	1202850966	RCV000813563;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890678	75890678	6:g.75890678G>A	-
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)	1303	COL12A1	Uncertain significance	-1	RCV002662712;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890684	75890684	NC_000006.11:g.75890684G>A	-
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val)	1303	COL12A1	Uncertain significance	773755693	RCV000816272\|RCV002245687;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890688	75890688	6:g.75890688T>C	-
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val)	1303	COL12A1	Uncertain significance	2149461913	RCV001369911;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890696	75890696	75890696	-
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn)	1303	COL12A1	Uncertain significance	2149461916	RCV002049845\|RCV003146250;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890700	75890700	75890700	-
NM_004370.6(COL12A1):c.2118G>A (p.Glu706=)	1303	COL12A1	Likely benign	2149461922	RCV001498163;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890701	75890701	75890701	-
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)	1303	COL12A1	Uncertain significance	-1	RCV002927521\|RCV003228106;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890705	75890705	NC_000006.11:g.75890705T>C	-
NM_004370.6(COL12A1):c.2109G>A (p.Ala703=)	1303	COL12A1	Likely benign	759595683	RCV001046551;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890710	75890710	6:g.75890710C>T	-
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	1013873051	RCV000661959\|RCV000661958\|RCV000691825\|RCV003144462\|RCV003411568;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0000355,MedGen:C4551860,OMIM:PS254090, Orphanet:75840\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,	6	75890711	75890711	6:g.75890711G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2100T>C (p.Asn700=)	1303	COL12A1	Likely benign	2149461949	RCV001469986;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890719	75890719	75890719	-
NM_004370.6(COL12A1):c.2099A>G (p.Asn700Ser)	1303	COL12A1	Likely benign	752941721	RCV001372714;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890720	75890720	75890720	-
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)	1303	COL12A1	Uncertain significance	756368336	RCV001223155;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890725	75890725	6:g.75890725C>G	-
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=)	1303	COL12A1	Benign	116691242	RCV000247396\|RCV000527081\|RCV001636779;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75890733	75890733	NC_000006.11:g.75890733A>G	ClinGen:CA3894070	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala)	1303	COL12A1	Uncertain significance	758201181	RCV001896278;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890736	75890736	75890736	-
NM_004370.6(COL12A1):c.2070C>T (p.Ser690=)	1303	COL12A1	Likely benign	779972390	RCV002169224;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890749	75890749	75890749	-
NM_004370.6(COL12A1):c.2064C>T (p.Leu688=)	1303	COL12A1	Likely benign	746946822	RCV001594201\|RCV002072351;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75890755	75890755	75890755	-
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)	1303	COL12A1	Uncertain significance	-1	RCV003082209\|RCV003082208;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75890757	75890757	NC_000006.11:g.75890757G>C	-
NM_004370.6(COL12A1):c.2061T>C (p.Val687=)	1303	COL12A1	Likely benign	-1	RCV002592261;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890758	75890758		-
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)	1303	COL12A1	Uncertain significance	-1	RCV002297857;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75890762	75890762	75890762	-
NM_004370.6(COL12A1):c.2055T>C (p.Ser685=)	1303	COL12A1	Likely benign	780620827	RCV001400135\|RCV003424253;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890764	75890764	6:g.75890764A>G	ClinGen:CA3894075	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2046G>A (p.Ser682=)	1303	COL12A1	Likely benign	1039108581	RCV001481915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890773	75890773	6:g.75890773C>T	-
NM_004370.6(COL12A1):c.2046G>C (p.Ser682=)	1303	COL12A1	Likely benign	1039108581	RCV002129036;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890773	75890773	75890773	-
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr)	1303	COL12A1	Uncertain significance	371321756	RCV000652914;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75890775	75890775	NC_000006.11:g.75890775A>T	ClinGen:CA364766852	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala)	1303	COL12A1	Uncertain significance	1562290248	RCV000704703\|RCV002305532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890781	75890781	NC_000006.11:g.75890781G>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)	1303	COL12A1	Uncertain significance	749609293	RCV001965121;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890787	75890787	75890787	-
NM_004370.6(COL12A1):c.2028T>C (p.Thr676=)	1303	COL12A1	Likely benign	1318149393	RCV001403872;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890791	75890791	75890791	-
NM_004370.6(COL12A1):c.2022G>A (p.Glu674=)	1303	COL12A1	Likely benign	1582191777	RCV000938364;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890797	75890797	6:g.75890797C>T	-
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn)	1303	COL12A1	Uncertain significance	1233438359	RCV002037029;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890805	75890805	75890805	-
NM_004370.6(COL12A1):c.2009C>G (p.Ala670Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	774882851	RCV001039749\|RCV003145264;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890810	75890810	6:g.75890810G>C	-
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser)	1303	COL12A1	Uncertain significance	1769255982	RCV001341352;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75890811	75890811	75890811	-
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=)	1303	COL12A1	Benign	77790445	RCV000242187\|RCV000548976\|RCV001660250;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75890812	75890812	NC_000006.11:g.75890812C>T	ClinGen:CA3894082	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2006C>T (p.Ala669Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	201657576	RCV000652921\|RCV001548358;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890813	75890813	6:g.75890813G>A	ClinGen:CA3894083	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys)	1303	COL12A1	Uncertain significance	2149462161	RCV001959360;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890817	75890817	75890817	-
NM_004370.6(COL12A1):c.1997A>G (p.Tyr666Cys)	1303	COL12A1	Likely benign	760872362	RCV001949855;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890822	75890822	75890822	-
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)	1303	COL12A1	Uncertain significance	1769258112	RCV001231880;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890829	75890829	6:g.75890829T>C	-
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	764241362	RCV000652908\|RCV002466556;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890831	75890831	NC_000006.11:g.75890831T>C	ClinGen:CA3894086	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)	1303	COL12A1	Uncertain significance	1769258754	RCV001045158;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890835	75890835	6:g.75890835_75890835del	-
NM_004370.6(COL12A1):c.1971A>C (p.Glu657Asp)	1303	COL12A1	Likely benign	758146130	RCV000970507\|RCV001570403;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890848	75890848	6:g.75890848T>G	-
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala)	1303	COL12A1	Uncertain significance	2149462234	RCV002042658;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890852	75890852	75890852	-
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)	1303	COL12A1	Uncertain significance	-1	RCV003458327;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890853	75890867		-
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNN	1303	COL12A1	Uncertain significance	-1	RCV002863246;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890873	75890874	NC_000006.11:g.75890873_75890874delinsGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	-
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)	1303	COL12A1	Benign	-1	RCV002923533;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890874	75890874	NC_000006.11:g.75890874T>G	-
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe)	1303	COL12A1	Uncertain significance	1031869609	RCV001876539;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890885	75890885	75890885	-
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=)	1303	COL12A1	Uncertain significance	2149462277	RCV001917436;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890893	75890893	75890893	-
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)	1303	COL12A1	Uncertain significance	1769262393	RCV001039192;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890894	75890894	6:g.75890894T>G	-
NM_004370.6(COL12A1):c.1921del (p.Ser641fs)	1303	COL12A1	Uncertain significance	2149462293	RCV001927615;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890898	75890898	75890897	-
NM_004370.6(COL12A1):c.1917T>C (p.Ser639=)	1303	COL12A1	Likely benign	2149462302	RCV002115082;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890902	75890902	75890902	-
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)	1303	COL12A1	Uncertain significance	754916465	RCV001343488\|RCV003145591;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890913	75890913	75890913	-
NM_004370.6(COL12A1):c.1905A>G (p.Pro635=)	1303	COL12A1	Likely benign	-1	RCV002571118;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890914	75890914		-
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe)	1303	COL12A1	Conflicting interpretations of pathogenicity	200315815	RCV000538608\|RCV001584350;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890922	75890922	6:g.75890922C>A	ClinGen:CA3894093	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)	1303	COL12A1	Uncertain significance	200315815	RCV001237336;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890922	75890922	6:g.75890922C>G	-
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)	1303	COL12A1	Uncertain significance	200315815	RCV002278913\|RCV003096292\|RCV003250491\|RCV003403773;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|	6	75890922	75890922	75890922	-
NM_004370.6(COL12A1):c.1896C>T (p.Tyr632=)	1303	COL12A1	Likely benign	201266825	RCV000652948\|RCV001559678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890923	75890923	6:g.75890923G>A	ClinGen:CA3894096	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-6dup	1303	COL12A1	Uncertain significance	753233369	RCV000692970;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890930	75890931	NC_000006.11:g.75890933dup	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-6_1892-5insG	1303	COL12A1	Uncertain significance	752652515	RCV000701800;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890932	75890933	6:g.75890932_75890933insC	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-6_1892-5insT	1303	COL12A1	Benign	752652515	RCV001512973;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890932	75890933	75890932	-
NM_004370.6(COL12A1):c.1892-6A>T	1303	COL12A1	Benign/Likely benign	60109744	RCV000245302\|RCV001501339;	N	MedGen:CN169374\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890933	75890933	NC_000006.11:g.75890933T>A	ClinGen:CA10586955	CN169374 not specified;
NM_004370.6(COL12A1):c.1892-8_1892-6del	1303	COL12A1	Benign	199713791	RCV000528023\|RCV001644665;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890933	75890935	NC_000006.11:g.75890933_75890935del	ClinGen:CA3894099	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-7_1892-6insC	1303	COL12A1	Likely benign	34433354	RCV000534989\|RCV001566182;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75890933	75890934	NC_000006.11:g.75890933_75890934insG	ClinGen:CA3894107	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-7_1892-6del	1303	COL12A1	Likely benign	1491398037	RCV001493064\|RCV001569664;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890933	75890934	75890932	-
NM_004370.6(COL12A1):c.1892-19dup	1303	COL12A1	Benign	11347601	RCV001522455\|RCV001573260\|RCV001581173\|RCV001700775\|RCV001581172;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN169374\|MOND	6	75890933	75890934	75890933	-
NM_004370.6(COL12A1):c.1892-19_1892-18dup	1303	COL12A1	Benign	11347601	RCV001522840\|RCV001729939;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN169374	6	75890933	75890934	75890933	-
NM_004370.6(COL12A1):c.1892-7T>C	1303	COL12A1	Likely benign	779185109	RCV000549603;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890934	75890934	NC_000006.11:g.75890934A>G	ClinGen:CA3894109	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1892-7T>A	1303	COL12A1	Uncertain significance	779185109	RCV001037647;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890934	75890934	6:g.75890934A>T	-
NM_004370.6(COL12A1):c.1892-7del	1303	COL12A1	Benign	11347601	RCV001518712\|RCV001685398;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75890934	75890934	75890933	-
NM_004370.6(COL12A1):c.1892-9_1892-8insTTTTTTTTTTTAACTGTCT	1303	COL12A1	Likely benign	560088357	RCV001459052;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75890935	75890936	75890935	-
NM_004370.6(COL12A1):c.1891+17A>G	1303	COL12A1	Likely benign	-1	RCV002711026;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892749	75892749	NC_000006.11:g.75892749T>C	-
NM_004370.6(COL12A1):c.1891+13T>C	1303	COL12A1	Likely benign	-1	RCV003077993;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892753	75892753	NC_000006.11:g.75892753A>G	-
NM_004370.6(COL12A1):c.1891+4A>G	1303	COL12A1	Likely benign	148292262	RCV000945801;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892762	75892762	6:g.75892762T>C	-
NM_004370.6(COL12A1):c.1891+4A>C	1303	COL12A1	Uncertain significance	148292262	RCV001316284;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892762	75892762	75892762	-
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)	1303	COL12A1	Uncertain significance	952803259	RCV001070116;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892766	75892766	6:g.75892766C>A	-
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)	1303	COL12A1	Uncertain significance	952803259	RCV001202212\|RCV001751370;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75892766	75892766	6:g.75892766C>T	-
NM_004370.6(COL12A1):c.1883A>G (p.Lys628Arg)	1303	COL12A1	Conflicting interpretations of pathogenicity	752689011	RCV001758998\|RCV001868703;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892774	75892774	75892774	-
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)	1303	COL12A1	Uncertain significance	962496340	RCV001209514;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892776	75892776	6:g.75892776T>C	-
NM_004370.6(COL12A1):c.1877C>T (p.Ala626Val)	1303	COL12A1	Uncertain significance	369924790	RCV001905262;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892780	75892780	75892780	-
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly)	1303	COL12A1	Uncertain significance	1356178155	RCV000664242\|RCV001297356;	N	MONDO:MONDO:0018993,MedGen:C0270914, Orphanet:64746\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892789	75892789	NC_000006.11:g.75892789T>C	-	C0270914 Charcot-Marie-Tooth disease, type 2;
NM_004370.6(COL12A1):c.1845T>A (p.Ser615=)	1303	COL12A1	Likely benign	1484924756	RCV001505786;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892812	75892812	6:g.75892812A>T	-
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro)	1303	COL12A1	Uncertain significance	1202194413	RCV000822184;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892816	75892816	6:g.75892816T>G	-
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)	1303	COL12A1	Uncertain significance	1478514196	RCV001241276;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892826	75892826	6:g.75892826C>G	-
NM_004370.6(COL12A1):c.1821G>A (p.Arg607=)	1303	COL12A1	Likely benign	199994914	RCV000964579\|RCV001585890;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75892836	75892836	6:g.75892836C>T	-
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)	1303	COL12A1	Uncertain significance	-1	RCV002722115;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892838	75892838	NC_000006.11:g.75892838T>C	-
NM_004370.6(COL12A1):c.1785T>C (p.His595=)	1303	COL12A1	Likely benign	2149465524	RCV002124349;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892872	75892872	75892872	-
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)	1303	COL12A1	Uncertain significance	370544100	RCV000652909\|RCV003442003\|RCV003420148;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|	6	75892874	75892874	6:g.75892874G>T	ClinGen:CA3894132	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1782C>T (p.Thr594=)	1303	COL12A1	Likely benign	552726593	RCV002093220;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892875	75892875	75892875	-
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)	1303	COL12A1	Uncertain significance	373292353	RCV000690717\|RCV003258924;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75892882	75892882	6:g.75892882G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1772C>G (p.Pro591Arg)	1303	COL12A1	Uncertain significance	752633980	RCV001321970;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892885	75892885	75892885	-
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)	1303	COL12A1	Uncertain significance	-1	RCV003038489;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892889	75892889	NC_000006.11:g.75892889G>A	-
NM_004370.6(COL12A1):c.1764C>T (p.Ala588=)	1303	COL12A1	Likely benign	-1	RCV002736181;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892893	75892893		-
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)	1303	COL12A1	Uncertain significance	-1	RCV002903532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892894	75892894	NC_000006.11:g.75892894G>T	-
NM_004370.6(COL12A1):c.1761T>C (p.Ile587=)	1303	COL12A1	Likely benign	1769411353	RCV002112305;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892896	75892896	75892896	-
NM_004370.6(COL12A1):c.1743C>T (p.Arg581=)	1303	COL12A1	Likely benign	201511621	RCV000970574;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892914	75892914	6:g.75892914G>A	-
NM_004370.6(COL12A1):c.1742G>A (p.Arg581His)	1303	COL12A1	Conflicting interpretations of pathogenicity	756803766	RCV001071660\|RCV003145343;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75892915	75892915	6:g.75892915C>T	-
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys)	1303	COL12A1	Conflicting interpretations of pathogenicity	764727126	RCV001220842\|RCV002271631;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN169374	6	75892916	75892916	6:g.75892916G>A	-
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)	1303	COL12A1	Uncertain significance	-1	RCV002975175;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892916	75892916	NC_000006.11:g.75892916G>T	-
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile)	1303	COL12A1	Uncertain significance	758637945	RCV001931364;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892919	75892919	75892919	-
NM_004370.6(COL12A1):c.1737C>T (p.Ala579=)	1303	COL12A1	Likely benign	780442166	RCV000877505\|RCV001548281;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75892920	75892920	6:g.75892920G>A	-
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr)	1303	COL12A1	Uncertain significance	2149465694	RCV001905207;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892925	75892925	75892925	-
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn)	1303	COL12A1	Uncertain significance	2149465694	RCV001986116;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892925	75892925	75892925	-
NM_004370.6(COL12A1):c.1731G>A (p.Lys577=)	1303	COL12A1	Likely benign	-1	RCV002807214;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892926	75892926		-
NM_004370.6(COL12A1):c.1725T>C (p.Gly575=)	1303	COL12A1	Likely benign	-1	RCV003017785;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892932	75892932		-
NM_004370.6(COL12A1):c.1717G>A (p.Ala573Thr)	1303	COL12A1	Likely benign	-1	RCV003118492;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892940	75892940	NC_000006.11:g.75892940C>T	-
NM_004370.6(COL12A1):c.1716T>C (p.Phe572=)	1303	COL12A1	Likely benign	781239880	RCV002142804;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892941	75892941	75892941	-
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)	1303	COL12A1	Uncertain significance	-1	RCV002991516;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75892960	75892960	NC_000006.11:g.75892961del	-
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV002904819\|RCV002927212\|RCV003146675;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75892963	75892963	NC_000006.11:g.75892963C>T	-
NM_004370.6(COL12A1):c.1683G>A (p.Ala561=)	1303	COL12A1	Likely benign	371148798	RCV001408636;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892974	75892974	6:g.75892974C>T	-
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)	1303	COL12A1	Uncertain significance	1344964508	RCV001055394;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892975	75892975	6:g.75892975G>A	-
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu)	1303	COL12A1	Uncertain significance	2149465788	RCV001890298;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892978	75892978	75892978	-
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)	1303	COL12A1	Likely benign	775466928	RCV001930228;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892979	75892979	75892979	-
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser)	1303	COL12A1	Uncertain significance	775466928	RCV001950009;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892979	75892979	75892979	-
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu)	1303	COL12A1	Uncertain significance	2149465802	RCV001897681;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892980	75892980	75892980	-
NM_004370.6(COL12A1):c.1677T>C (p.Asp559=)	1303	COL12A1	Likely benign	2149465802	RCV002165199;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892980	75892980	75892980	-
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly)	1303	COL12A1	Uncertain significance	1002113974	RCV001899961;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892985	75892985	75892985	-
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)	1303	COL12A1	Uncertain significance	538463802	RCV001366712\|RCV001776228;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75892990	75892990	75892990	-
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser)	1303	COL12A1	Uncertain significance	776633189	RCV001755532\|RCV001868757;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75892991	75892991	75892991	-
NM_004370.6(COL12A1):c.1656A>G (p.Lys552=)	1303	COL12A1	Likely benign	2149465844	RCV002099339;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893001	75893001	75893001	-
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly)	1303	COL12A1	Uncertain significance	2149465853	RCV001894606;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893008	75893008	75893008	-
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=)	1303	COL12A1	Benign	761187970	RCV001979413;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893010	75893010	75893010	-
NM_004370.6(COL12A1):c.1647G>T (p.Thr549=)	1303	COL12A1	Likely benign	761187970	RCV002183478;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893010	75893010	75893010	-
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)	1303	COL12A1	Uncertain significance	557804521	RCV001236734\|RCV003236881;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893011	75893011	6:g.75893011G>A	-
NM_004370.6(COL12A1):c.1644C>A (p.Ile548=)	1303	COL12A1	Likely benign	147111006	RCV000652934\|RCV001571983;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893013	75893013	6:g.75893013G>T	ClinGen:CA3894164	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)	1303	COL12A1	Uncertain significance	-1	RCV003059743\|RCV003434547;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75893018	75893018	NC_000006.11:g.75893018G>A	-
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)	1303	COL12A1	Uncertain significance	1769421051	RCV001227565;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893026	75893026	6:g.75893026A>T	-
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met)	1303	COL12A1	Uncertain significance	1769421436	RCV002016943\|RCV002548200;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75893036	75893036	75893036	-
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys)	1303	COL12A1	Uncertain significance	1440470491	RCV001308169;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893037	75893037	75893037	-
NM_004370.6(COL12A1):c.1616G>A (p.Ser539Asn)	1303	COL12A1	Uncertain significance	1169546055	RCV001316150;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893041	75893041	75893041	-
NM_004370.6(COL12A1):c.1608A>T (p.Gly536=)	1303	COL12A1	Likely benign	-1	RCV002635229;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893049	75893049		-
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn)	1303	COL12A1	Uncertain significance	2149465941	RCV001999044;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893056	75893056	75893056	-
NM_004370.6(COL12A1):c.1599T>C (p.Pro533=)	1303	COL12A1	Likely benign	-1	RCV002852862;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893058	75893058		-
NM_004370.6(COL12A1):c.1581A>G (p.Arg527=)	1303	COL12A1	Likely benign	1003898953	RCV002187383;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893076	75893076	75893076	-
NM_004370.6(COL12A1):c.1575T>C (p.Tyr525=)	1303	COL12A1	Likely benign	748722008	RCV001456466;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893082	75893082	75893082	-
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr)	1303	COL12A1	Uncertain significance	1292052246	RCV001302566\|RCV003373109;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75893093	75893093	75893093	-
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu)	1303	COL12A1	Uncertain significance	774728500	RCV000818900;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893096	75893096	6:g.75893096T>C	-
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=)	1303	COL12A1	Uncertain significance	2149466030	RCV002017437;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893097	75893097	75893097	-
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)	1303	COL12A1	Uncertain significance	-1	RCV003044261;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893098	75893098	NC_000006.11:g.75893098C>G	-
NM_004370.6(COL12A1):c.1557T>A (p.Thr519=)	1303	COL12A1	Likely benign	-1	RCV002628235;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893100	75893100		-
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=)	1303	COL12A1	Benign	34767467	RCV000249949\|RCV000550530\|RCV001668499;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75893106	75893106	NC_000006.11:g.75893106T>C	ClinGen:CA3894179	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1545A>T (p.Gly515=)	1303	COL12A1	Likely benign	-1	RCV003090272;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893112	75893112		-
NM_004370.6(COL12A1):c.1545A>G (p.Gly515=)	1303	COL12A1	Likely benign	-1	RCV003030081;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893112	75893112		-
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg)	1303	COL12A1	Uncertain significance	2149466076	RCV002007755;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893114	75893114	75893114	-
NM_004370.6(COL12A1):c.1531C>T (p.Pro511Ser)	1303	COL12A1	Uncertain significance	-1	RCV003051189;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893126	75893126	NC_000006.11:g.75893126G>A	-
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys)	1303	COL12A1	Uncertain significance	2149466133	RCV001994887;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893133	75893133	75893133	-
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	189762594	RCV000981737\|RCV001565737\|RCV002548457;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75893140	75893140	6:g.75893140G>C	-
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)	1303	COL12A1	Uncertain significance	-1	RCV002304523;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893149	75893149	75893149	-
NM_004370.6(COL12A1):c.1494C>A (p.Thr498=)	1303	COL12A1	Likely benign	777711709	RCV001452084;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893163	75893163	6:g.75893163G>T	-
NM_004370.6(COL12A1):c.1494C>G (p.Thr498=)	1303	COL12A1	Likely benign	777711709	RCV002102825;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893163	75893163	75893163	-
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala)	1303	COL12A1	Uncertain significance	753897086	RCV000816332;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893165	75893165	6:g.75893165T>C	-
NM_004370.6(COL12A1):c.1491C>T (p.Phe497=)	1303	COL12A1	Likely benign	-1	RCV003086678;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893166	75893166		-
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val)	1303	COL12A1	Uncertain significance	1769434215	RCV001320483;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893168	75893168	75893168	-
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	367630003	RCV000695719\|RCV001592886\|RCV002271569;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MedGen:CN169374	6	75893186	75893186	6:g.75893186C>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln)	1303	COL12A1	Uncertain significance	779234808	RCV002027398;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893190	75893190	75893190	-
NM_004370.6(COL12A1):c.1458G>A (p.Arg486=)	1303	COL12A1	Likely benign	560103397	RCV001431880;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893199	75893199	75893199	-
NM_004370.6(COL12A1):c.1457G>A (p.Arg486Gln)	1303	COL12A1	Likely benign	768545712	RCV001932694;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893200	75893200	75893200	-
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)	1303	COL12A1	Uncertain significance	371505180	RCV001302155\|RCV001535578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,Or	6	75893201	75893201	75893201	-
NM_004370.6(COL12A1):c.1452C>T (p.Tyr484=)	1303	COL12A1	Likely benign	769824937	RCV002065950;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893205	75893205	6:g.75893205G>A	-
NM_004370.6(COL12A1):c.1449A>G (p.Gln483=)	1303	COL12A1	Likely benign	533536940	RCV001431825;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893208	75893208	75893208	-
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly)	1303	COL12A1	Uncertain significance	1445434863	RCV001324288;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893212	75893212	75893212	-
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)	1303	COL12A1	Uncertain significance	762385473	RCV000701986\|RCV003144556;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75893223	75893223	6:g.75893223C>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1434G>A (p.Gln478=)	1303	COL12A1	Likely benign	762385473	RCV002171222;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893223	75893223	75893223	-
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu)	1303	COL12A1	Uncertain significance	770461984	RCV001304162;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893224	75893224	75893224	-
NM_004370.6(COL12A1):c.1429G>A (p.Val477Ile)	1303	COL12A1	Uncertain significance	759237307	RCV001987258;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893228	75893228	75893228	-
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)	1303	COL12A1	Uncertain significance	-1	RCV002828198;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893232	75893232	NC_000006.11:g.75893232A>T	-
NM_004370.6(COL12A1):c.1416T>C (p.Ile472=)	1303	COL12A1	Likely benign	1242358815	RCV002130157;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893241	75893241	75893241	-
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val)	1303	COL12A1	Uncertain significance	2149466346	RCV001878053;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893243	75893243	75893243	-
NM_004370.6(COL12A1):c.1398T>A (p.Leu466=)	1303	COL12A1	Likely benign	2149466384	RCV001468148;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893259	75893259	75893259	-
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile)	1303	COL12A1	Uncertain significance	368199250	RCV001895343;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893282	75893282	75893282	-
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)	1303	COL12A1	Uncertain significance	-1	RCV002299608;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893285	75893285	75893285	-
NM_004370.6(COL12A1):c.1365C>T (p.Asn455=)	1303	COL12A1	Likely benign	192004528	RCV000953799;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893292	75893292	6:g.75893292G>A	-
NM_004370.6(COL12A1):c.1356G>T (p.Gly452=)	1303	COL12A1	Likely benign	372285460	RCV000696641;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893301	75893301	6:g.75893301C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1347T>C (p.Tyr449=)	1303	COL12A1	Likely benign	-1	RCV002961896;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893310	75893310		-
NM_004370.6(COL12A1):c.1344C>T (p.Ser448=)	1303	COL12A1	Likely benign	1004269418	RCV002110119;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893313	75893313	75893313	-
NM_004370.6(COL12A1):c.1323T>C (p.Ile441=)	1303	COL12A1	Likely benign	-1	RCV002755117;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893334	75893334		-
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr)	1303	COL12A1	Uncertain significance	1223531902	RCV001305899;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893335	75893335	75893335	-
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)	1303	COL12A1	Benign	-1	RCV002629105;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893340	75893340		-
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met)	1303	COL12A1	Uncertain significance	1769449076	RCV001877414\|RCV002552743;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75893354	75893354	75893354	-
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)	1303	COL12A1	Uncertain significance	759184281	RCV001294404;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893356	75893356	75893356	-
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser)	1303	COL12A1	Uncertain significance	771816024	RCV001918915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893357	75893357	75893357	-
NM_004370.6(COL12A1):c.1298G>A (p.Arg433His)	1303	COL12A1	Likely benign	775010013	RCV001993030;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893359	75893359	75893359	-
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)	1303	COL12A1	Benign	-1	RCV002927543;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893361	75893361		-
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)	1303	COL12A1	Uncertain significance	1769450841	RCV001222727;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893362	75893362	6:g.75893362G>A	-
NM_004370.6(COL12A1):c.1289-3C>T	1303	COL12A1	Uncertain significance	375570066	RCV001364565;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893371	75893371	75893371	-
NM_004370.6(COL12A1):c.1289-15T>C	1303	COL12A1	Likely benign	2149466614	RCV002072385;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893383	75893383	75893383	-
NM_004370.6(COL12A1):c.1288+18T>C	1303	COL12A1	Likely benign	-1	RCV002726503;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893552	75893552	NC_000006.11:g.75893552A>G	-
NM_004370.6(COL12A1):c.1288+15G>A	1303	COL12A1	Likely benign	-1	RCV003089509;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893555	75893555	NC_000006.11:g.75893555C>T	-
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)	1303	COL12A1	Uncertain significance	1769466109	RCV001054829;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893580	75893580	6:g.75893580T>G	-
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu)	1303	COL12A1	Uncertain significance	1562297194	RCV000702601;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893582	75893582	6:g.75893582T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val)	1303	COL12A1	Uncertain significance	2149466974	RCV001971325;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893585	75893585	75893585	-
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn)	1303	COL12A1	Uncertain significance	2149466995	RCV001909015;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893595	75893595	75893595	-
NM_004370.6(COL12A1):c.1258G>C (p.Glu420Gln)	1303	COL12A1	Conflicting interpretations of pathogenicity	757252832	RCV001041898\|RCV003145272;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75893600	75893600	6:g.75893600C>G	-
NM_004370.6(COL12A1):c.1256T>C (p.Met419Thr)	1303	COL12A1	Likely benign	201085951	RCV001238422;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893602	75893602	6:g.75893602A>G	-
NM_004370.6(COL12A1):c.1248T>C (p.Ile416=)	1303	COL12A1	Likely benign	2149467023	RCV001497385;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893610	75893610	75893610	-
NM_004370.6(COL12A1):c.1239T>C (p.Ser413=)	1303	COL12A1	Likely benign	1769468260	RCV001411198;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893619	75893619	75893619	-
NM_004370.6(COL12A1):c.1226G>A (p.Gly409Glu)	1303	COL12A1	Uncertain significance	775157077	RCV001211431;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893632	75893632	6:g.75893632C>T	-
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)	1303	COL12A1	Uncertain significance	-1	RCV002604857;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893633	75893633	NC_000006.11:g.75893633C>G	-
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr)	1303	COL12A1	Uncertain significance	1325717704	RCV001978533;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893635	75893635	75893635	-
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	377285294	RCV002247995\|RCV003093986;	N	MedGen:CN169374\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893642	75893642	75893642	-
NM_004370.6(COL12A1):c.1215C>T (p.Ser405=)	1303	COL12A1	Likely benign	374962362	RCV000875633\|RCV001548042;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75893643	75893643	6:g.75893643G>A	-
NM_004370.6(COL12A1):c.1205T>A (p.Ile402Asn)	1303	COL12A1	Likely benign	-1	RCV002756418;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893653	75893653	NC_000006.11:g.75893653A>T	-
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val)	1303	COL12A1	Uncertain significance	1582198261	RCV000795723;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893654	75893654	6:g.75893654T>C	-
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter)	1303	COL12A1	Uncertain significance	2149467117	RCV002012809;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893657	75893657	75893657	-
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=)	1303	COL12A1	Benign/Likely benign	202153313	RCV000244844\|RCV000877823\|RCV001589260;	N	MedGen:CN169374\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75893670	75893670	6:g.75893670T>G	ClinGen:CA3894245	CN169374 not specified;
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	202175607	RCV000694923\|RCV001331209\|RCV001556084;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75893672	75893672	6:g.75893672C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1182C>T (p.Leu394=)	1303	COL12A1	Likely benign	763051678	RCV002138117;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893676	75893676	75893676	-
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val)	1303	COL12A1	Uncertain significance	1032545730	RCV001364674\|RCV002547824;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75893680	75893680	75893680	-
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)	1303	COL12A1	Uncertain significance	369309158	RCV000695808;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893681	75893681	NC_000006.11:g.75893681C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1176C>T (p.Arg392=)	1303	COL12A1	Likely benign	751787368	RCV000557433;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893682	75893682	6:g.75893682G>A	ClinGen:CA3894250	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)	1303	COL12A1	Uncertain significance	755195861	RCV000546858\|RCV003144363\|RCV003278916;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75893683	75893683	NC_000006.11:g.75893683C>T	ClinGen:CA3894251	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys)	1303	COL12A1	Uncertain significance	970722197	RCV001996071;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893684	75893684	75893684	-
NM_004370.6(COL12A1):c.1171G>T (p.Val391Phe)	1303	COL12A1	Conflicting interpretations of pathogenicity	565496900	RCV001874659\|RCV003146284;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893687	75893687	75893687	-
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)	1303	COL12A1	Uncertain significance	-1	RCV002824169;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893690	75893690	NC_000006.11:g.75893690T>G	-
NM_004370.6(COL12A1):c.1164G>A (p.Thr388=)	1303	COL12A1	Likely benign	373522815	RCV002113530;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893694	75893694	75893694	-
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	201657256	RCV000802355\|RCV001585727;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893695	75893695	6:g.75893695G>A	-
NM_004370.6(COL12A1):c.1163C>A (p.Thr388Lys)	1303	COL12A1	Uncertain significance	201657256	RCV000801761;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893695	75893695	6:g.75893695G>T	-
NM_004370.6(COL12A1):c.1161C>G (p.Thr387=)	1303	COL12A1	Likely benign	2149467222	RCV001497378;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893697	75893697	75893697	-
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala)	1303	COL12A1	Uncertain significance	1582198440	RCV000808393;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893699	75893699	6:g.75893699T>C	-
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)	1303	COL12A1	Uncertain significance	-1	RCV002820676;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893705	75893705	NC_000006.11:g.75893705del	-
NM_004370.6(COL12A1):c.1152T>C (p.Pro384=)	1303	COL12A1	Likely benign	200496785	RCV000531992\|RCV001553491;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893706	75893706	NC_000006.11:g.75893706A>G	ClinGen:CA3894256	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)	1303	COL12A1	Uncertain significance	-1	RCV002828414;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893707	75893707	NC_000006.11:g.75893707G>A	-
NM_004370.6(COL12A1):c.1150C>T (p.Pro384Ser)	1303	COL12A1	Conflicting interpretations of pathogenicity	370952607	RCV001203584\|RCV001751375;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75893708	75893708	6:g.75893708G>A	-
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala)	1303	COL12A1	Uncertain significance	1310849098	RCV001986231;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893710	75893710	75893710	-
NM_004370.6(COL12A1):c.1143T>C (p.Ser381=)	1303	COL12A1	Likely benign	2149467274	RCV002146731;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893715	75893715	75893715	-
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)	1303	COL12A1	Uncertain significance	779083996	RCV001058586;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893723	75893723	6:g.75893723C>T	-
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro)	1303	COL12A1	Uncertain significance	779083996	RCV001364739\|RCV003145622\|RCV003284269\|RCV003399172;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	6	75893723	75893723	75893723	-
NM_004370.6(COL12A1):c.1134C>T (p.His378=)	1303	COL12A1	Likely benign	376523503	RCV001449203;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893724	75893724	6:g.75893724G>A	-
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)	1303	COL12A1	Uncertain significance	1210901422	RCV001240810;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893725	75893725	6:g.75893725T>C	-
NM_004370.6(COL12A1):c.1117G>T (p.Ala373Ser)	1303	COL12A1	Likely benign	370379561	RCV001579487\|RCV002569102;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893741	75893741	75893741	-
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)	1303	COL12A1	Uncertain significance	922525519	RCV001226915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893743	75893743	6:g.75893743G>A	-
NM_004370.6(COL12A1):c.1110A>G (p.Pro370=)	1303	COL12A1	Likely benign	575544133	RCV000558361;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893748	75893748	6:g.75893748T>C	ClinGen:CA451112646	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln)	1303	COL12A1	Uncertain significance	2149467365	RCV002030200;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893749	75893749	75893749	-
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)	1303	COL12A1	Likely benign	-1	RCV002471369;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893749	75893749	NC_000006.11:g.75893749G>A	-
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)	1303	COL12A1	Uncertain significance	1253680957	RCV001233583;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893752	75893752	6:g.75893752G>A	-
NM_004370.6(COL12A1):c.1095A>G (p.Lys365=)	1303	COL12A1	Likely benign	2149467427	RCV002099267;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893763	75893763	75893763	-
NM_004370.6(COL12A1):c.1083G>A (p.Val361=)	1303	COL12A1	Likely benign	373691118	RCV001462477;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893775	75893775	75893775	-
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met)	1303	COL12A1	Uncertain significance	2149467444	RCV002040308;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893777	75893777	75893777	-
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)	1303	COL12A1	Uncertain significance	-1	RCV002303883;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893781	75893781	75893781	-
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)	1303	COL12A1	Uncertain significance	1769480073	RCV001053728;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893793	75893793	6:g.75893793A>T	-
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn)	1303	COL12A1	Uncertain significance	1562297952	RCV000686889;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893805	75893805	6:g.75893805C>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.1050T>C (p.Val350=)	1303	COL12A1	Likely benign	372113789	RCV001451627;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893808	75893808	75893808	-
NM_004370.6(COL12A1):c.1047T>C (p.Tyr349=)	1303	COL12A1	Likely benign	-1	RCV002740157;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893811	75893811		-
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)	1303	COL12A1	Uncertain significance	1769481285	RCV001197399;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893813	75893813	6:g.75893813A>G	-
NM_004370.6(COL12A1):c.1032A>G (p.Glu344=)	1303	COL12A1	Likely benign	371748094	RCV001391782;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893826	75893826	75893826	-
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)	1303	COL12A1	Uncertain significance	780955667	RCV001060477;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893829	75893829	6:g.75893829C>T	-
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr)	1303	COL12A1	Uncertain significance	2149467566	RCV002043450;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893834	75893834	75893834	-
NM_004370.6(COL12A1):c.1023T>C (p.Ile341=)	1303	COL12A1	Likely benign	747827698	RCV002196891;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893835	75893835	75893835	-
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)	1303	COL12A1	Uncertain significance	-1	RCV003050306;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75893835	75893835	NC_000006.11:g.75893835A>C	-
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=)	1303	COL12A1	Benign/Likely benign	578252411	RCV001521460\|RCV001558785;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75893840	75893840	75893840	-
NM_004370.6(COL12A1):c.1006C>T (p.Pro336Ser)	1303	COL12A1	Uncertain significance	375542964	RCV001048123;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893852	75893852	6:g.75893852G>A	-
NM_004370.6(COL12A1):c.998-17T>C	1303	COL12A1	Likely benign	-1	RCV002615991;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75893877	75893877	NC_000006.11:g.75893877A>G	-
NM_004370.6(COL12A1):c.997+15T>G	1303	COL12A1	Likely benign	2149473736	RCV002158191;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898063	75898063	75898063	-
NM_004370.6(COL12A1):c.997+14G>A	1303	COL12A1	Benign	201998466	RCV002172308;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898064	75898064	75898064	-
NM_004370.6(COL12A1):c.997+9A>G	1303	COL12A1	Likely benign	560228996	RCV001471016;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898069	75898069	6:g.75898069T>C	-
NM_004370.6(COL12A1):c.997+7A>G	1303	COL12A1	Likely benign	-1	RCV002852276;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898071	75898071	NC_000006.11:g.75898071T>C	-
NM_004370.6(COL12A1):c.997+6T>C	1303	COL12A1	Uncertain significance	377225744	RCV001202250;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898072	75898072	6:g.75898072A>G	-
NM_004370.6(COL12A1):c.997+2T>C	1303	COL12A1	Uncertain significance	-1	RCV003053917;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898076	75898076	NC_000006.11:g.75898076A>G	-
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile)	1303	COL12A1	Uncertain significance	1426761655	RCV000522721\|RCV002525146;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898078	75898078	6:g.75898078C>T	ClinGen:CA364727381	CN169374 not specified;
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)	1303	COL12A1	Benign	-1	RCV002573929;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898088	75898088		-
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)	1303	COL12A1	Uncertain significance	1769743212	RCV001232951;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898089	75898089	6:g.75898089C>T	-
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)	1303	COL12A1	Uncertain significance	370040853	RCV001038218;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898093	75898093	6:g.75898093C>A	-
NM_004370.6(COL12A1):c.979T>C (p.Leu327=)	1303	COL12A1	Likely benign	768698427	RCV002075458;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898096	75898096	75898096	-
NM_004370.6(COL12A1):c.974G>A (p.Gly325Asp)	1303	COL12A1	Likely benign	-1	RCV002629935;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898101	75898101	NC_000006.11:g.75898101C>T	-
NM_004370.6(COL12A1):c.971T>G (p.Leu324Arg)	1303	COL12A1	Uncertain significance	762612450	RCV001218996;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898104	75898104	6:g.75898104A>C	-
NM_004370.6(COL12A1):c.938T>C (p.Ile313Thr)	1303	COL12A1	Uncertain significance	774136306	RCV002010094;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898137	75898137	75898137	-
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)	1303	COL12A1	Conflicting interpretations of pathogenicity	116980451	RCV000686474\|RCV001584554;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75898153	75898153	NC_000006.11:g.75898153T>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)	1303	COL12A1	Uncertain significance	1769746949	RCV001204672;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898162	75898162	6:g.75898162T>C	-
NM_004370.6(COL12A1):c.912A>G (p.Ala304=)	1303	COL12A1	Likely benign	767135101	RCV001467543;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898163	75898163	75898163	-
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val)	1303	COL12A1	Uncertain significance	763589676	RCV001360539;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898176	75898176	75898176	-
NM_004370.6(COL12A1):c.892A>C (p.Asn298His)	1303	COL12A1	Likely benign	1404705545	RCV001049920;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898183	75898183	6:g.75898183T>G	-
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr)	1303	COL12A1	Uncertain significance	1404705545	RCV002014031;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898183	75898183	75898183	-
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)	1303	COL12A1	Uncertain significance	-1	RCV002305275;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898185	75898185	75898185	-
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)	1303	COL12A1	Uncertain significance	1769748525	RCV001035323;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898188	75898188	6:g.75898188A>C	-
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile)	1303	COL12A1	Uncertain significance	1273649550	RCV002027513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898189	75898189	75898189	-
NM_004370.6(COL12A1):c.877C>T (p.Leu293=)	1303	COL12A1	Likely benign	-1	RCV002616796;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898198	75898198		-
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr)	1303	COL12A1	Uncertain significance	1319038184	RCV001999689;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898204	75898204	75898204	-
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val)	1303	COL12A1	Uncertain significance	1385414325	RCV000819915;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898212	75898212	6:g.75898212G>A	-
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)	1303	COL12A1	Conflicting interpretations of pathogenicity	369360559	RCV000431517\|RCV001223141\|RCV002522639;	N	MedGen:CN517202\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75898219	75898219	6:g.75898219G>C	ClinGen:CA3894318	CN169374 not specified;
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val)	1303	COL12A1	Uncertain significance	1554188241	RCV000652924;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898227	75898227	6:g.75898227T>A	ClinGen:CA364727709	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)	1303	COL12A1	Uncertain significance	-1	RCV002622083;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898228	75898228	NC_000006.11:g.75898228C>A	-
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)	1303	COL12A1	Uncertain significance	-1	RCV002918569;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898236	75898236	NC_000006.11:g.75898236T>C	-
NM_004370.6(COL12A1):c.834T>G (p.Ala278=)	1303	COL12A1	Benign	16886258	RCV000243621\|RCV000529878\|RCV001689846;	N	MedGen:CN169374\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900	6	75898241	75898241	NC_000006.11:g.75898241A>C	ClinGen:CA3894321	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.824-20C>T	1303	COL12A1	Likely benign	369499035	RCV002188276;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898271	75898271	75898271	-
NM_004370.6(COL12A1):c.824-20C>G	1303	COL12A1	Likely benign	-1	RCV003070546;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898271	75898271	NC_000006.11:g.75898271G>C	-
NM_004370.6(COL12A1):c.823+20T>C	1303	COL12A1	Likely benign	534530101	RCV002203841;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898913	75898913	75898913	-
NM_004370.6(COL12A1):c.823+17_823+18insGTAATGATAATGTAA	1303	COL12A1	Likely benign	-1	RCV002852596;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898915	75898916	NC_000006.11:g.75898915_75898916insTTACATTATCATTAC	-
NM_004370.6(COL12A1):c.823+15G>T	1303	COL12A1	Likely benign	-1	RCV002875640;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898918	75898918	NC_000006.11:g.75898918C>A	-
NM_004370.6(COL12A1):c.823+10G>A	1303	COL12A1	Likely benign	1233608917	RCV002147358;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898923	75898923	75898923	-
NM_004370.6(COL12A1):c.823+8A>C	1303	COL12A1	Likely benign	1769795222	RCV001408076;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898925	75898925	75898925	-
NM_004370.6(COL12A1):c.823+4G>A	1303	COL12A1	Uncertain significance	-1	RCV003040808;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898929	75898929	NC_000006.11:g.75898929C>T	-
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)	1303	COL12A1	Uncertain significance	-1	RCV002603746;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898939	75898939	NC_000006.11:g.75898939A>T	-
NM_004370.6(COL12A1):c.810A>G (p.Glu270=)	1303	COL12A1	Likely benign	1326391180	RCV001432465;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898946	75898946	75898946	-
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)	1303	COL12A1	Uncertain significance	-1	RCV002295012;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75898950	75898950	75898950	-
NM_004370.6(COL12A1):c.804A>G (p.Gly268=)	1303	COL12A1	Likely benign	754993343	RCV002154639;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898952	75898952	75898952	-
NM_004370.6(COL12A1):c.801T>C (p.Val267=)	1303	COL12A1	Likely benign	781375448	RCV001473252;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898955	75898955	75898955	-
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)	1303	COL12A1	Conflicting interpretations of pathogenicity	778155362	RCV001038245\|RCV002466609\|RCV003243409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75898962	75898962	6:g.75898962C>T	-
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)	1303	COL12A1	Uncertain significance	749760185	RCV000791108\|RCV000791107\|RCV001371620;	N	MONDO:MONDO:0000355,MedGen:C4551860,OMIM:PS254090, Orphanet:75840\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471,	6	75898963	75898963	6:g.75898963G>A	-
NM_004370.6(COL12A1):c.789G>A (p.Glu263=)	1303	COL12A1	Likely benign	2149474985	RCV001475768;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898967	75898967	75898967	-
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys)	1303	COL12A1	Uncertain significance	1554188366	RCV000527175;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898971	75898971	NC_000006.11:g.75898971C>T	ClinGen:CA364727861	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys)	1303	COL12A1	Uncertain significance	1312651383	RCV001978310;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898984	75898984	75898984	-
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)	1303	COL12A1	Uncertain significance	-1	RCV002834596;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898984	75898984	NC_000006.11:g.75898984C>G	-
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu)	1303	COL12A1	Uncertain significance	775522044	RCV001971007\|RCV003146430;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75898987	75898987	75898987	-
NM_004370.6(COL12A1):c.765T>C (p.Asp255=)	1303	COL12A1	Likely benign	2149475018	RCV001469509;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75898991	75898991	75898991	-
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)	1303	COL12A1	Uncertain significance	-1	RCV003338049;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899008	75899008		-
NM_004370.6(COL12A1):c.747G>A (p.Thr249=)	1303	COL12A1	Uncertain significance	553802363	RCV001876880;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899009	75899009	75899009	-
NM_004370.6(COL12A1):c.746C>T (p.Thr249Met)	1303	COL12A1	Likely benign	572216195	RCV001349511;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899010	75899010	75899010	-
NM_004370.6(COL12A1):c.743T>C (p.Ile248Thr)	1303	COL12A1	Likely benign	199673248	RCV000876581\|RCV001585848;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899013	75899013	6:g.75899013A>G	-
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)	1303	COL12A1	Uncertain significance	371124522	RCV000697672\|RCV003303157;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75899015	75899015	NC_000006.11:g.75899015A>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.732G>A (p.Val244=)	1303	COL12A1	Benign/Likely benign	200141559	RCV000951947\|RCV003424491;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899024	75899024	6:g.75899024C>T	-
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr)	1303	COL12A1	Uncertain significance	1554188387	RCV000652919;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899043	75899043	NC_000006.11:g.75899043C>G	ClinGen:CA364728070	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)	1303	COL12A1	Uncertain significance	-1	RCV002781335;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899053	75899053	NC_000006.11:g.75899053C>A	-
NM_004370.6(COL12A1):c.702T>C (p.Ser234=)	1303	COL12A1	Likely benign	-1	RCV002852578;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899054	75899054		-
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	200443479	RCV000960330\|RCV001078962;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899061	75899061	6:g.75899061G>A	-
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg)	1303	COL12A1	Uncertain significance	200443479	RCV001326599;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899061	75899061	75899061	-
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)	1303	COL12A1	Uncertain significance	-1	RCV003060698;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899083	75899083	NC_000006.11:g.75899083A>C	-
NM_004370.6(COL12A1):c.659-8C>T	1303	COL12A1	Likely benign	-1	RCV003014073;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899105	75899105	NC_000006.11:g.75899105G>A	-
NM_004370.6(COL12A1):c.658+13G>T	1303	COL12A1	Likely benign	-1	RCV002800279;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899255	75899255	NC_000006.11:g.75899255C>A	-
NM_004370.6(COL12A1):c.658+10A>G	1303	COL12A1	Likely benign	2149475491	RCV002185841;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899258	75899258	75899258	-
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg)	1303	COL12A1	Uncertain significance	756215547	RCV001315211;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899273	75899273	75899273	-
NM_004370.6(COL12A1):c.652A>G (p.Met218Val)	1303	COL12A1	Uncertain significance	2149475531	RCV002003568\|RCV003146451;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899274	75899274	75899274	-
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)	1303	COL12A1	Uncertain significance	-1	RCV002299869;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899282	75899282	75899282	-
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val)	1303	COL12A1	Uncertain significance	1582209053	RCV000823513;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899285	75899285	6:g.75899285C>A	-
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu)	1303	COL12A1	Uncertain significance	1769818108	RCV001295453;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899289	75899289	75899289	-
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)	1303	COL12A1	Conflicting interpretations of pathogenicity	1424010902	RCV002004564\|RCV002563544;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75899292	75899292	75899292	-
NM_004370.6(COL12A1):c.633A>G (p.Pro211=)	1303	COL12A1	Likely benign	541648868	RCV001417926;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899293	75899293	75899293	-
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr)	1303	COL12A1	Benign/Likely benign	75535959	RCV000532798\|RCV001692201;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899300	75899300	6:g.75899300T>G	ClinGen:CA3894390	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg)	1303	COL12A1	Uncertain significance	2149475605	RCV002049014;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899303	75899303	75899303	-
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln)	1303	COL12A1	Uncertain significance	1769819268	RCV002029289;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899304	75899304	75899304	-
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)	1303	COL12A1	Uncertain significance	-1	RCV003042415;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899312	75899312	NC_000006.11:g.75899312G>A	-
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	375673671	RCV000539466\|RCV001566196;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899319	75899319	NC_000006.11:g.75899319G>T	ClinGen:CA3894392	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)	1303	COL12A1	Uncertain significance	-1	RCV002814990;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899324	75899324	NC_000006.11:g.75899324T>A	-
NM_004370.6(COL12A1):c.600G>A (p.Arg200=)	1303	COL12A1	Likely benign	2149475654	RCV001475182;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899326	75899326	75899326	-
NM_004370.6(COL12A1):c.597A>G (p.Gln199=)	1303	COL12A1	Likely benign	368715192	RCV000540533;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899329	75899329	6:g.75899329T>C	ClinGen:CA3894395	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His)	1303	COL12A1	Uncertain significance	1769820873	RCV001324499;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899337	75899337	75899337	-
NM_004370.6(COL12A1):c.588G>A (p.Gln196=)	1303	COL12A1	Likely benign	748928908	RCV001482802;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899338	75899338	75899338	-
NM_004370.6(COL12A1):c.580T>C (p.Leu194=)	1303	COL12A1	Likely benign	2149475695	RCV001428409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899346	75899346	75899346	-
NM_004370.6(COL12A1):c.569C>A (p.Thr190Asn)	1303	COL12A1	Likely benign	759905934	RCV001319845;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899357	75899357	75899357	-
NM_004370.6(COL12A1):c.567G>A (p.Arg189=)	1303	COL12A1	Likely benign	-1	RCV003112728;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899359	75899359		-
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala)	1303	COL12A1	Uncertain significance	767796362	RCV000808775;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899364	75899364	6:g.75899364T>C	-
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn)	1303	COL12A1	Uncertain significance	2149475753	RCV001936219;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899372	75899372	75899372	-
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)	1303	COL12A1	Uncertain significance	1769823295	RCV001051452;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899373	75899373	6:g.75899373T>A	-
NM_004370.6(COL12A1):c.552C>T (p.Tyr184=)	1303	COL12A1	Likely benign	372356221	RCV001468419;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899374	75899374	6:g.75899374G>A	-
NM_004370.6(COL12A1):c.546T>G (p.Val182=)	1303	COL12A1	Likely benign	764254293	RCV001489382;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899380	75899380	75899380	-
NM_004370.6(COL12A1):c.546T>C (p.Val182=)	1303	COL12A1	Likely benign	764254293	RCV002143620;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899380	75899380	75899380	-
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)	1303	COL12A1	Uncertain significance	1769824140	RCV001057244;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899382	75899382	6:g.75899382C>T	-
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)	1303	COL12A1	Uncertain significance	-1	RCV003011351;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899397	75899397	NC_000006.11:g.75899397T>C	-
NM_004370.6(COL12A1):c.525G>A (p.Glu175=)	1303	COL12A1	Likely benign	199736979	RCV000652940\|RCV001487978;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899401	75899401	6:g.75899401C>T	ClinGen:CA3894408	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.515T>C (p.Ile172Thr)	1303	COL12A1	Likely benign	780886772	RCV001885454;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899411	75899411	75899411	-
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val)	1303	COL12A1	Uncertain significance	2149475842	RCV001364193;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899414	75899414	75899414	-
NM_004370.6(COL12A1):c.511G>C (p.Asp171His)	1303	COL12A1	Uncertain significance	748076280	RCV002051484;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899415	75899415	75899415	-
NM_004370.6(COL12A1):c.504T>G (p.Ser168=)	1303	COL12A1	Likely benign	371436873	RCV002204082;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899422	75899422	75899422	-
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala)	1303	COL12A1	Uncertain significance	2149475862	RCV001963532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899424	75899424	75899424	-
NM_004370.6(COL12A1):c.492T>C (p.Ala164=)	1303	COL12A1	Likely benign	748734386	RCV001396728;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899434	75899434	75899434	-
NM_004370.6(COL12A1):c.483C>T (p.Asp161=)	1303	COL12A1	Likely benign	1769829163	RCV002107161;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899443	75899443	75899443	-
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val)	1303	COL12A1	Uncertain significance	548978005	RCV000817626;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899451	75899451	6:g.75899451T>C	-
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)	1303	COL12A1	Uncertain significance	373002461	RCV000707084\|RCV001540082\|RCV003165929;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75899457	75899457	6:g.75899457T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.465T>C (p.Asn155=)	1303	COL12A1	Likely benign	777308349	RCV002203353;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899461	75899461	75899461	-
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly)	1303	COL12A1	Uncertain significance	2149475927	RCV001971191;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899469	75899469	75899469	-
NM_004370.6(COL12A1):c.456A>G (p.Gly152=)	1303	COL12A1	Likely benign	761930862	RCV001445314;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899470	75899470	75899470	-
NM_004370.6(COL12A1):c.441C>T (p.Gly147=)	1303	COL12A1	Conflicting interpretations of pathogenicity	370007721	RCV001505369\|RCV003145675;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75899485	75899485	75899485	-
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)	1303	COL12A1	Uncertain significance	1394611159	RCV001224123;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899490	75899490	6:g.75899490C>A	-
NM_004370.6(COL12A1):c.433G>A (p.Val145Met)	1303	COL12A1	Likely benign	-1	RCV002601532;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899493	75899493	NC_000006.11:g.75899493C>T	-
NM_004370.6(COL12A1):c.432C>T (p.Leu144=)	1303	COL12A1	Likely benign	528524927	RCV000949182;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899494	75899494	6:g.75899494G>A	-
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)	1303	COL12A1	Uncertain significance	-1	RCV002781053\|RCV003146632;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75899501	75899501	NC_000006.11:g.75899501A>G	-
NM_004370.6(COL12A1):c.424G>A (p.Val142Ile)	1303	COL12A1	Conflicting interpretations of pathogenicity	772461470	RCV001366158\|RCV003284273;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75899502	75899502	75899502	-
NM_004370.6(COL12A1):c.423G>A (p.Leu141=)	1303	COL12A1	Likely benign	755912419	RCV001371008;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899503	75899503	75899503	-
NM_004370.6(COL12A1):c.417T>A (p.Thr139=)	1303	COL12A1	Likely benign	777652114	RCV002028487;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899509	75899509	75899509	-
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)	1303	COL12A1	Uncertain significance	377551270	RCV000816285;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75899523	75899523	6:g.75899523C>A	-
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe)	1303	COL12A1	Uncertain significance	1346687171	RCV000819525;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75899525	75899525	6:g.75899525G>A	-
NM_004370.6(COL12A1):c.394+16A>G	1303	COL12A1	Likely benign	-1	RCV003006504;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901401	75901401	NC_000006.11:g.75901401T>C	-
NM_004370.6(COL12A1):c.394+11C>T	1303	COL12A1	Likely benign	-1	RCV002760285;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901406	75901406	NC_000006.11:g.75901406G>A	-
NM_004370.6(COL12A1):c.394+1G>A	1303	COL12A1	Conflicting interpretations of pathogenicity	-1	RCV003014090\|RCV003170869;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:CN517202	6	75901416	75901416	NC_000006.11:g.75901416C>T	-
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)	1303	COL12A1	Uncertain significance	1769937627	RCV001234416;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901418	75901418	6:g.75901418T>G	-
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)	1303	COL12A1	Uncertain significance	-1	RCV003029724;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901420	75901420	NC_000006.11:g.75901420G>A	-
NM_004370.6(COL12A1):c.390A>T (p.Ile130=)	1303	COL12A1	Likely benign	-1	RCV002741633;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901421	75901421		-
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr)	1303	COL12A1	Uncertain significance	1769938135	RCV001885632;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901422	75901422	75901422	-
NM_004370.6(COL12A1):c.385G>A (p.Glu129Lys)	1303	COL12A1	Conflicting interpretations of pathogenicity	978290681	RCV001915824\|RCV003146337;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75901426	75901426	75901426	-
NM_004370.6(COL12A1):c.384C>T (p.Thr128=)	1303	COL12A1	Likely benign	200378966	RCV000872736\|RCV001585837;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75901427	75901427	6:g.75901427G>A	-
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)	1303	COL12A1	Uncertain significance	751811370	RCV001229875;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901428	75901428	6:g.75901428G>A	-
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)	1303	COL12A1	Uncertain significance	-1	RCV002574519;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901438	75901438	NC_000006.11:g.75901438G>T	-
NM_004370.6(COL12A1):c.366G>A (p.Glu122=)	1303	COL12A1	Likely benign	-1	RCV002760458;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901445	75901445		-
NM_004370.6(COL12A1):c.363G>A (p.Val121=)	1303	COL12A1	Likely benign	559388395	RCV001417010;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901448	75901448	75901448	-
NM_004370.6(COL12A1):c.351G>T (p.Ser117=)	1303	COL12A1	Likely benign	-1	RCV002600667;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901460	75901460		-
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu)	1303	COL12A1	Uncertain significance	753747530	RCV001325442;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901461	75901461	75901461	-
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)	1303	COL12A1	Uncertain significance	749832842	RCV001223554;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901467	75901467	6:g.75901467C>T	-
NM_004370.6(COL12A1):c.342A>G (p.Thr114=)	1303	COL12A1	Likely benign	2149478404	RCV001424566;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901469	75901469	75901469	-
NM_004370.6(COL12A1):c.335-1G>C	1303	COL12A1	Uncertain significance	779800232	RCV001945833;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901477	75901477	75901477	-
NM_004370.6(COL12A1):c.335-8del	1303	COL12A1	Conflicting interpretations of pathogenicity	2149478420	RCV001512177\|RCV001762706;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75901484	75901484	75901483	-
NM_004370.6(COL12A1):c.335-16T>C	1303	COL12A1	Likely benign	1286151975	RCV002184505;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901492	75901492	75901492	-
NM_004370.6(COL12A1):c.334+18del	1303	COL12A1	Benign	2149478980	RCV002165202;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901910	75901910	75901909	-
NM_004370.6(COL12A1):c.334+13A>T	1303	COL12A1	Likely benign	991483498	RCV002157903;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901915	75901915	75901915	-
NM_004370.6(COL12A1):c.334+8C>T	1303	COL12A1	Likely benign	1359112911	RCV002208356;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901920	75901920	75901920	-
NM_004370.6(COL12A1):c.334+4A>T	1303	COL12A1	Uncertain significance	1769967046	RCV001227241;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901924	75901924	6:g.75901924T>A	-
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)	1303	COL12A1	Uncertain significance	-1	RCV002819162;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901930	75901930	NC_000006.11:g.75901930G>T	-
NM_004370.6(COL12A1):c.330A>G (p.Leu110=)	1303	COL12A1	Likely benign	2149479020	RCV001405659;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901932	75901932	75901932	-
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)	1303	COL12A1	Uncertain significance	-1	RCV003049692;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901963	75901963	NC_000006.11:g.75901963A>G	-
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)	1303	COL12A1	Uncertain significance	-1	RCV003006159;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901966	75901968	NC_000006.11:g.75901967CAT[1]	-
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)	1303	COL12A1	Conflicting interpretations of pathogenicity	558571598	RCV000652910\|RCV002534186;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75901970	75901970	6:g.75901970C>T	ClinGen:CA3894475	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)	1303	COL12A1	Uncertain significance	1477957297	RCV001071569;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901973	75901973	6:g.75901973A>G	-
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)	1303	COL12A1	Uncertain significance	377482121	RCV000793939;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75901988	75901988	6:g.75901988C>A	-
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)	1303	COL12A1	Uncertain significance	1278211393	RCV000518882\|RCV000791597\|RCV003148770\|RCV003419908;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|\|	6	75901996	75901996	NC_000006.11:g.75901996T>G	ClinGen:CA364731002	CN169374 not specified;
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)	1303	COL12A1	Uncertain significance	-1	RCV002985456;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75901997	75901997	NC_000006.11:g.75901997C>T	-
NM_004370.6(COL12A1):c.250C>G (p.Leu84Val)	1303	COL12A1	Conflicting interpretations of pathogenicity	770970810	RCV001220350\|RCV003145409;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75902012	75902012	6:g.75902012G>C	-
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala)	1303	COL12A1	Uncertain significance	941358850	RCV001294998;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902018	75902018	75902018	-
NM_004370.6(COL12A1):c.228C>T (p.Thr76=)	1303	COL12A1	Likely benign	1432448789	RCV001431733;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902034	75902034	75902034	-
NM_004370.6(COL12A1):c.227C>T (p.Thr76Ile)	1303	COL12A1	Likely benign	746079159	RCV001965082;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902035	75902035	75902035	-
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)	1303	COL12A1	Uncertain significance	370684538	RCV000695634\|RCV002532317\|RCV003144531;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	6	75902036	75902036	NC_000006.11:g.75902036T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)	1303	COL12A1	Uncertain significance	1198986280	RCV001213035;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902038	75902038	6:g.75902038C>T	-
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro)	1303	COL12A1	Uncertain significance	1562315490	RCV001876544;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902047	75902047	75902047	-
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)	1303	COL12A1	Uncertain significance	1318884120	RCV001040882;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902048	75902048	6:g.75902048G>T	-
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)	1303	COL12A1	Uncertain significance	775809424	RCV001215413\|RCV001776146\|RCV003259159;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	6	75902051	75902051	6:g.75902051T>C	-
NM_004370.6(COL12A1):c.207A>G (p.Glu69=)	1303	COL12A1	Likely benign	2149479234	RCV002083991;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902055	75902055	75902055	-
NM_004370.6(COL12A1):c.200C>G (p.Thr67Ser)	1303	COL12A1	Uncertain significance	1436987187	RCV001931823;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902062	75902062	75902062	-
NM_004370.6(COL12A1):c.198T>C (p.Pro66=)	1303	COL12A1	Likely benign	-1	RCV003057353;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75902064	75902064		-
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu)	1303	COL12A1	Uncertain significance	2149479257	RCV001878785;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902068	75902068	75902068	-
NM_004370.6(COL12A1):c.191-11T>C	1303	COL12A1	Likely benign	765124645	RCV002168691;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902082	75902082	75902082	-
NM_004370.6(COL12A1):c.191-12T>C	1303	COL12A1	Likely benign	772991479	RCV001707758\|RCV002529523;	N	MedGen:C3661900\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75902083	75902083	6:g.75902083A>G	ClinGen:CA3894486	CN169374 not specified;
NM_004370.6(COL12A1):c.191-16C>A	1303	COL12A1	Likely benign	2149479283	RCV002168759;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75902087	75902087	75902087	-
NM_004370.6(COL12A1):c.190+18G>A	1303	COL12A1	Likely benign	-1	RCV002833779;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904529	75904529	NC_000006.11:g.75904529C>T	-
NM_004370.6(COL12A1):c.190+14C>G	1303	COL12A1	Benign	536848485	RCV002164740;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904533	75904533	75904533	-
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)	1303	COL12A1	Uncertain significance	-1	RCV002853481;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904547	75904547	NC_000006.11:g.75904547C>T	-
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)	1303	COL12A1	Conflicting interpretations of pathogenicity	371298920	RCV001240667\|RCV001541234;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75904548	75904548	6:g.75904548C>T	-
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)	1303	COL12A1	Uncertain significance	374544349	RCV000688032\|RCV001849051;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75904549	75904549	6:g.75904549G>A	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)	1303	COL12A1	Uncertain significance	779409298	RCV000793705\|RCV003144590;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75904552	75904552	6:g.75904552G>C	-
NM_004370.6(COL12A1):c.177G>A (p.Val59=)	1303	COL12A1	Likely benign	772158281	RCV001401449;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904560	75904560	6:g.75904560C>T	ClinGen:CA3894499	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala)	1303	COL12A1	Uncertain significance	1770135564	RCV001889424;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904561	75904561	75904561	-
NM_004370.6(COL12A1):c.173C>T (p.Thr58Met)	1303	COL12A1	Conflicting interpretations of pathogenicity	140583215	RCV000795869\|RCV003144599;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75904564	75904564	6:g.75904564G>A	-
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr)	1303	COL12A1	Uncertain significance	1770137078	RCV001967016;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904582	75904582	75904582	-
NM_004370.6(COL12A1):c.141A>G (p.Lys47=)	1303	COL12A1	Likely benign	2149482731	RCV001438850;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904596	75904596	75904596	-
NM_004370.6(COL12A1):c.132A>G (p.Ser44=)	1303	COL12A1	Likely benign	201454637	RCV000535890\|RCV001559048;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75904605	75904605	6:g.75904605T>C	ClinGen:CA3894509	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.125A>G (p.His42Arg)	1303	COL12A1	Uncertain significance	760445921	RCV001901004;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904612	75904612	75904612	-
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	201343487	RCV000815338\|RCV001759584\|RCV002534866;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75904619	75904619	6:g.75904619T>C	-
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala)	1303	COL12A1	Benign	200828190	RCV000703053;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904624	75904624	6:g.75904624T>G	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.110A>G (p.Asp37Gly)	1303	COL12A1	Conflicting interpretations of pathogenicity	374757163	RCV000815534\|RCV001759586;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75904627	75904627	6:g.75904627T>C	-
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)	1303	COL12A1	Uncertain significance	780247302	RCV001035771;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904634	75904634	6:g.75904634T>C	-
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)	1303	COL12A1	Uncertain significance	747183950	RCV000699934\|RCV001759392;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75904637	75904637	6:g.75904637T>C	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)	1303	COL12A1	Uncertain significance	1442527803	RCV001246252;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904640	75904640	6:g.75904640A>C	-
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)	1303	COL12A1	Uncertain significance	1582219536	RCV000801804;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904648	75904648	6:g.75904648T>C	-
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr)	1303	COL12A1	Uncertain significance	1473515166	RCV001345223;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904655	75904655	75904655	-
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)	1303	COL12A1	Uncertain significance	-1	RCV002975776;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75904657	75904657	NC_000006.11:g.75904657G>T	-
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu)	1303	COL12A1	Uncertain significance	2149482865	RCV001984509;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904659	75904659	75904659	-
NM_004370.6(COL12A1):c.75T>C (p.Val25=)	1303	COL12A1	Likely benign	749054316	RCV001491502;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904662	75904662	75904662	-
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala)	1303	COL12A1	Uncertain significance	770874037	RCV001757393\|RCV002540624;	N	MedGen:C3661900\|MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904663	75904663	75904663	-
NM_004370.6(COL12A1):c.74-15CT[3]	1303	COL12A1	Likely benign	756206757	RCV001306969;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904671	75904672	75904670	-
NM_004370.6(COL12A1):c.74-18A>G	1303	COL12A1	Likely benign	2149482912	RCV002108315;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904681	75904681	75904681	-
NM_004370.6(COL12A1):c.74-19T>C	1303	COL12A1	Likely benign	564822630	RCV002161060;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75904682	75904682	75904682	-
NM_004370.6(COL12A1):c.73+19C>T	1303	COL12A1	Likely benign	-1	RCV002672240;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912417	75912417	NC_000006.11:g.75912417G>A	-
NM_004370.6(COL12A1):c.73+16C>T	1303	COL12A1	Likely benign	-1	RCV003087134;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912420	75912420	NC_000006.11:g.75912420G>A	-
NM_004370.6(COL12A1):c.73+8G>A	1303	COL12A1	Likely benign	-1	RCV003078250;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912428	75912428	NC_000006.11:g.75912428C>T	-
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys)	1303	COL12A1	Uncertain significance	1233096096	RCV002037318;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912439	75912439	75912439	-
NM_004370.6(COL12A1):c.66G>A (p.Glu22=)	1303	COL12A1	Benign	369544130	RCV000818573;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912443	75912443	6:g.75912443C>T	-
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)	1303	COL12A1	Conflicting interpretations of pathogenicity	576888932	RCV000817608\|RCV001823169;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202	6	75912447	75912447	6:g.75912447A>G	-
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val)	1303	COL12A1	Uncertain significance	1267769116	RCV001974984;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912465	75912465	75912465	-
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)	1303	COL12A1	Uncertain significance	1453508139	RCV000794356\|RCV001532078\|RCV002535905;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	6	75912466	75912466	6:g.75912466C>A	-
NM_004370.6(COL12A1):c.42G>A (p.Ala14=)	1303	COL12A1	Likely benign	758961396	RCV000701634;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912467	75912467	NC_000006.11:g.75912467C>T	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.42G>C (p.Ala14=)	1303	COL12A1	Likely benign	-1	RCV003085165;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912467	75912467		-
NM_004370.6(COL12A1):c.41C>T (p.Ala14Val)	1303	COL12A1	Likely benign	-1	RCV003011053;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75912468	75912468	NC_000006.11:g.75912468G>A	-
NM_004370.6(COL12A1):c.36G>T (p.Leu12=)	1303	COL12A1	Likely benign	-1	RCV002721820;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912473	75912473		-
NM_004370.6(COL12A1):c.36G>A (p.Leu12=)	1303	COL12A1	Likely benign	-1	RCV002871724;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912473	75912473		-
NM_004370.6(COL12A1):c.33C>G (p.Ala11=)	1303	COL12A1	Likely benign	1770596486	RCV001408447;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912476	75912476	75912476	-
NM_004370.6(COL12A1):c.33C>T (p.Ala11=)	1303	COL12A1	Likely benign	1770596486	RCV002133042;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75912476	75912476	75912476	-
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)	1303	COL12A1	Uncertain significance	751589202	RCV001067103\|RCV003442193;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:C3661900	6	75912477	75912477	6:g.75912477G>A	-
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu)	1303	COL12A1	Uncertain significance	1562335715	RCV000699221\|RCV001564120\|RCV001809765;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MedGen:CN517202\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912479	75912480	NC_000006.11:g.75912479_75912480delinsTT	-	C4225313 616471 Bethlem myopathy 2;
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)	1303	COL12A1	Conflicting interpretations of pathogenicity	755046298	RCV001896512\|RCV003264200;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MeSH:D030342,MedGen:C0950123	6	75912490	75912490	75912490	-
NM_004370.6(COL12A1):c.18C>T (p.Pro6=)	1303	COL12A1	Likely benign	1427431369	RCV002158532;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912491	75912491	75912491	-
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)	1303	COL12A1	Benign	-1	RCV002727311;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912494	75912494		-
NM_004370.6(COL12A1):c.10A>C (p.Arg4=)	1303	COL12A1	Likely benign	-1	RCV002790883;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75912499	75912499		-
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)	1303	COL12A1	Uncertain significance	1770598850	RCV001331212\|RCV001350830;	N	MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610\|MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610; MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840	6	75912502	75912502	75912502	-
NM_004370.6(COL12A1):c.5G>A (p.Arg2Gln)	1303	COL12A1	Uncertain significance	1265886692	RCV001315711;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912504	75912504	75912504	-
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)	1303	COL12A1	Uncertain significance	-1	RCV003077690;	N	MONDO:MONDO:0014654,MedGen:C4225314,OMIM:616470, Orphanet:75840; MONDO:MONDO:0034022,MedGen:C4225313,OMIM:616471, Orphanet:536516, Orphanet:610	6	75912504	75912504	NC_000006.11:g.75912504C>G	-

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