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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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ehlers-Danlos Syndrome (D004535)
..Starting node ..Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive (C567527)
Child Nodes:
Sister Nodes:
..EDS VIIB (C565061)
..Ehlers-Danlos syndrome caused by tenascin-X deficiency (C536193)
..Ehlers-Danlos syndrome type 1 (C536194)
..Ehlers-Danlos syndrome type 2 (C536195)
..Ehlers-Danlos syndrome type 3 (C536196)
..Ehlers-Danlos syndrome type 5 (C536197)
..Ehlers-Danlos syndrome type 6 (C536198)
..Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality (C565600)
..Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified (C562424)
..Ehlers-Danlos syndrome, Beasley Cohen type (C536199)
..Ehlers-Danlos syndrome, cardiac valvular form (C536200)
..EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 (OMIM:614557)
..Ehlers-Danlos Syndrome, musculocontractural type 1 (C000600608)
..EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 (OMIM:615539)
..EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
..Ehlers-Danlos syndrome, progeroid form (C536201)
..Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant (C562625)
..Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive (C567527)
..Ehlers-Danlos Syndrome, Type VIII (C562626)
..Hernandez Aguirre-Negrete syndrome (C538112)
..Occipital horn syndrome (C537860)
..OI-EDS Combined Syndrome (C565178)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4046

Name:

Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive

Definition:

Alternative IDs:

OMIM:225410

ParentIDs:

MESH:D004535

TreeNumbers:

C14.907.454.240/C567527 |C15.378.463.515.240/C567527 |C16.131.831.428/C567527 |C16.320.850.260/C567527 |C17.300.200.310/C567527 |C17.800.804.428/C567527 |C17.800.827.260/C567527

Synonyms:

Slim Mappings:

Reference:

MedGen: C567527
MeSH: C567527
OMIM: 225410;
MSeqDR :
Genes: ADAMTS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006344	Abnormality of primary molar morphology
3	HP:0010749	Blepharochalasis
4	HP:0000592	Blue sclerae
5	HP:0000978	Bruising susceptibility
6	HP:0001476	Delayed closure of the anterior fontanelle
7	HP:0000494	Downslanted palpebral fissures
8	HP:0000286	Epicanthus
9	HP:0000232	Everted lower lip vermilion
10	HP:0001030	Fragile skin
11	HP:0200094	Frontal open bite
12	HP:0000225	Gingival bleeding
13	HP:0000222	Gingival hyperkeratosis
14	HP:0000212	Gingival overgrowth
15	HP:0001007	Hirsutism
16	HP:0000668	Hypodontia
17	HP:0000023	Inguinal hernia
18	HP:0001388	Joint laxity
19	HP:0009826	Limb undergrowth
20	HP:0000347	Micrognathia
21	HP:0002983	Micromelia
22	HP:0001270	Motor delay
23	HP:0000545	Myopia
24	HP:0000938	Osteopenia
25	HP:0001622	Premature birth
26	HP:0001788	Premature rupture of membranes
27	HP:0005332	Recurrent mandibular subluxations
28	HP:0001582	Redundant skin
29	HP:0009803	Short phalanx of finger
30	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
31	HP:0001831	Short toe
32	HP:0001027	Soft, doughy skin
33	HP:0004876	Spontaneous neonatal pneumothorax
34	HP:0012471	Thick vermilion border
35	HP:0001537	Umbilical hernia
36	HP:0000260	Wide anterior fontanel

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000005.9:g.(?_178408658)_(178541345_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV001950217;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178408658	178541345	-1	-
NC_000005.9:g.(?_178408658)_(178585900_?)del	9509	ADAMTS2	Uncertain significance	-1	RCV003116715;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178408658	178585900		-
NM_014244.5(ADAMTS2):c.*2952T>A	9509	ADAMTS2	Benign	rs1044209	RCV000281065;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178537916	178537916	5:g.178537916A>T	ClinGen:CA10621465	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2951_2952delinsAA	9509	ADAMTS2	Uncertain significance	rs386695575	RCV000319767;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178537916	178537917	NC_000005.9:g.178537916_178537917delinsTT	ClinGen:CA10621466	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2951G>A	9509	ADAMTS2	Benign	rs1044205	RCV000372025;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178537917	178537917	5:g.178537917C>T	ClinGen:CA10624217	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2923AAC[1]	9509	ADAMTS2	Uncertain significance	rs886060480	RCV000279870;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178537940	178537942	5:g.178537940_178537942del	ClinGen:CA10624318	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2918G>A	9509	ADAMTS2	Benign	rs60250623	RCV000352204;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178537950	178537950	5:g.178537950C>T	ClinGen:CA10620170	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2854T>C	9509	ADAMTS2	Uncertain significance	rs11740156	RCV000399195;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538014	178538014	5:g.178538014A>G	ClinGen:CA10620174	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2853G>A	9509	ADAMTS2	Uncertain significance	rs565652629	RCV000293844;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538015	178538015	5:g.178538015C>T	ClinGen:CA10621470	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2840T>G	9509	ADAMTS2	Uncertain significance	rs1008909674	RCV001154782;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538028	178538028	5:g.178538028A>C	-
NM_014244.5(ADAMTS2):c.*2820C>A	9509	ADAMTS2	Uncertain significance	rs1381911253	RCV001154783;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538048	178538048	5:g.178538048G>T	-
NM_014244.5(ADAMTS2):c.*2724A>G	9509	ADAMTS2	Uncertain significance	rs886060481	RCV000346444;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538144	178538144	5:g.178538144T>C	ClinGen:CA10624325	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2598A>G	9509	ADAMTS2	Uncertain significance	rs371733200	RCV000408259;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538270	178538270	5:g.178538270T>C	ClinGen:CA10620175	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2595C>T	9509	ADAMTS2	Uncertain significance	rs188054405	RCV000306764;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538273	178538273	5:g.178538273G>A	ClinGen:CA10624223	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2589T>G	9509	ADAMTS2	Uncertain significance	rs886060482	RCV000363739;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538279	178538279	5:g.178538279A>C	ClinGen:CA10624329	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2587T>C	9509	ADAMTS2	Likely benign	rs140304884	RCV000408254;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538281	178538281	5:g.178538281A>G	ClinGen:CA10624331	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2511C>A	9509	ADAMTS2	Uncertain significance	rs1265598763	RCV001158233;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538357	178538357	5:g.178538357G>T	-
NM_014244.5(ADAMTS2):c.*2440G>A	9509	ADAMTS2	Uncertain significance	rs546192004	RCV000305158;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538428	178538428	5:g.178538428C>T	ClinGen:CA10624333	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2439C>T	9509	ADAMTS2	Benign	rs78886769	RCV000357623;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538429	178538429	5:g.178538429G>A	ClinGen:CA10620176	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2420A>G	9509	ADAMTS2	Likely benign	rs376369089	RCV001158234;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538448	178538448	5:g.178538448T>C	-
NM_014244.5(ADAMTS2):c.*2397G>A	9509	ADAMTS2	Likely benign	rs117141618	RCV001158235;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538471	178538471	5:g.178538471C>T	-
NM_014244.5(ADAMTS2):c.*2396C>T	9509	ADAMTS2	Benign	rs3797615	RCV000265228;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538472	178538472	5:g.178538472G>A	ClinGen:CA10621473	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2302C>T	9509	ADAMTS2	Uncertain significance	rs564480935	RCV001152752;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538566	178538566	5:g.178538566G>A	-
NM_014244.5(ADAMTS2):c.*2301C>T	9509	ADAMTS2	Benign	rs115104288	RCV000318004;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538567	178538567	5:g.178538567G>A	ClinGen:CA10624339	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2270C>T	9509	ADAMTS2	Uncertain significance	rs886060483	RCV000356560;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538598	178538598	5:g.178538598G>A	ClinGen:CA10620177	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2196T>A	9509	ADAMTS2	Likely benign	rs147985762	RCV000259382;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538672	178538672	5:g.178538672A>T	ClinGen:CA10624340	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2180C>A	9509	ADAMTS2	Uncertain significance	rs961432521	RCV001152753;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538688	178538688	5:g.178538688G>T	-
NM_014244.5(ADAMTS2):c.*2169G>A	9509	ADAMTS2	Uncertain significance	rs1762570717	RCV001152754;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538699	178538699	5:g.178538699C>T	-
NM_014244.5(ADAMTS2):c.*2147C>T	9509	ADAMTS2	Uncertain significance	rs886060484	RCV000317006;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538721	178538721	5:g.178538721G>A	ClinGen:CA10620178	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2141G>T	9509	ADAMTS2	Likely benign	rs77882118	RCV001154029;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538727	178538727	5:g.178538727C>A	-
NM_014244.5(ADAMTS2):c.*2064A>G	9509	ADAMTS2	Uncertain significance	rs759155545	RCV000387871;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538804	178538804	5:g.178538804T>C	ClinGen:CA10621474	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*2035G>A	9509	ADAMTS2	Uncertain significance	rs1022911243	RCV001154030;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538833	178538833	5:g.178538833C>T	-
NM_014244.5(ADAMTS2):c.*1941C>T	9509	ADAMTS2	Uncertain significance	rs886060485	RCV000296527;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538927	178538927	5:g.178538927G>A	ClinGen:CA10624341	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1919T>G	9509	ADAMTS2	Uncertain significance	rs574968586	RCV000330416;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178538949	178538949	NC_000005.9:g.178538949A>C	ClinGen:CA10624226	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1837T>G	9509	ADAMTS2	Uncertain significance	rs1003207022	RCV001154031;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539031	178539031	5:g.178539031A>C	-
NM_014244.5(ADAMTS2):c.*1819G>A	9509	ADAMTS2	Benign	rs115989271	RCV000387227;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539049	178539049	NC_000005.9:g.178539049C>T	ClinGen:CA10624229	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1797C>T	9509	ADAMTS2	Likely benign	rs553329835	RCV000290567;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539071	178539071	NC_000005.9:g.178539071G>A	ClinGen:CA10620179	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1777T>C	9509	ADAMTS2	Uncertain significance	rs1351159498	RCV001154032;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539091	178539091	5:g.178539091A>G	-
NM_014244.5(ADAMTS2):c.*1747A>C	9509	ADAMTS2	Uncertain significance	rs886060486	RCV000347747;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539121	178539121	NC_000005.9:g.178539121T>G	ClinGen:CA10624346	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1719T>C	9509	ADAMTS2	Benign	rs56153390	RCV001154873;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539149	178539149	5:g.178539149A>G	-
NM_014244.5(ADAMTS2):c.*1639C>T	9509	ADAMTS2	Uncertain significance	rs138971097	RCV000390402;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539229	178539229	NC_000005.9:g.178539229G>A	ClinGen:CA10624250	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1589T>C	9509	ADAMTS2	Uncertain significance	rs533044375	RCV001154874;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539279	178539279	5:g.178539279A>G	-
NM_014244.5(ADAMTS2):c.*1586A>G	9509	ADAMTS2	Benign	rs888760	RCV000289287;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539282	178539282	NC_000005.9:g.178539282T>C	ClinGen:CA10620185	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1579_1585del	9509	ADAMTS2	Likely benign	rs539443462	RCV000341924;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539283	178539289	NC_000005.9:g.178539286_178539292del	ClinGen:CA10624251	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1573A>C	9509	ADAMTS2	Likely benign	rs560216364	RCV000400641;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539295	178539295	NC_000005.9:g.178539295T>G	ClinGen:CA10621475	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1486C>A	9509	ADAMTS2	Benign	rs1863918	RCV000302626;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539382	178539382	NC_000005.9:g.178539382G>T	ClinGen:CA10624255	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1468A>G	9509	ADAMTS2	Benign	rs2059776	RCV000359736;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539400	178539400	NC_000005.9:g.178539400T>C	ClinGen:CA10624350	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1446dup	9509	ADAMTS2	Uncertain significance	rs151062906	RCV000391360;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539421	178539422	NC_000005.9:g.178539425dup	ClinGen:CA10621487	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1437_1438del	9509	ADAMTS2	Likely benign	rs375426260	RCV000301509;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539430	178539431	NC_000005.9:g.178539433_178539434del	ClinGen:CA10621489	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1411G>A	9509	ADAMTS2	Uncertain significance	rs1222087934	RCV001156548;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539457	178539457	5:g.178539457C>T	-
NM_014244.5(ADAMTS2):c.*1361A>G	9509	ADAMTS2	Uncertain significance	rs142875628	RCV000353994;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539507	178539507	NC_000005.9:g.178539507T>C	ClinGen:CA10620186	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1247C>T	9509	ADAMTS2	Benign	rs77506744	RCV000261405;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539621	178539621	NC_000005.9:g.178539621G>A	ClinGen:CA10621490	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*1077A>G	9509	ADAMTS2	Uncertain significance	rs1011844643	RCV001156549;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539791	178539791	5:g.178539791T>C	-
NM_014244.5(ADAMTS2):c.*985C>T	9509	ADAMTS2	Uncertain significance	rs187198149	RCV001156550;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539883	178539883	5:g.178539883G>A	-
NM_014244.5(ADAMTS2):c.*977G>A	9509	ADAMTS2	Likely benign	rs138084603	RCV000314299;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178539891	178539891	NC_000005.9:g.178539891C>T	ClinGen:CA10624361	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*853G>T	9509	ADAMTS2	Benign	rs17666900	RCV000366818;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540015	178540015	NC_000005.9:g.178540015C>A	ClinGen:CA10624362	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*847C>T	9509	ADAMTS2	Benign	rs78622875	RCV000274510;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540021	178540021	NC_000005.9:g.178540021G>A	ClinGen:CA10624258	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*843G>A	9509	ADAMTS2	Uncertain significance	rs778909760	RCV000327380;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540025	178540025	NC_000005.9:g.178540025C>T	ClinGen:CA10620187	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*842T>C	9509	ADAMTS2	Benign	rs10038484	RCV000384209;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540026	178540026	NC_000005.9:g.178540026A>G	ClinGen:CA10621495	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*835C>T	9509	ADAMTS2	Uncertain significance	rs1762596121	RCV001152869;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540033	178540033	5:g.178540033G>A	-
NM_014244.5(ADAMTS2):c.*816C>T	9509	ADAMTS2	Likely benign	rs116130524	RCV000268798;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540052	178540052	NC_000005.9:g.178540052G>A	ClinGen:CA10620188	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*813G>C	9509	ADAMTS2	Uncertain significance	rs577299266	RCV001152870;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540055	178540055	5:g.178540055C>G	-
NM_014244.5(ADAMTS2):c.*707A>G	9509	ADAMTS2	Uncertain significance	rs149592164	RCV000326263;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540161	178540161	NC_000005.9:g.178540161T>C	ClinGen:CA10624364	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*615T>C	9509	ADAMTS2	Uncertain significance	rs1762599095	RCV001152871;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540253	178540253	5:g.178540253A>G	-
NM_014244.5(ADAMTS2):c.*550G>A	9509	ADAMTS2	Uncertain significance	rs753995152	RCV001154150;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540318	178540318	5:g.178540318C>T	-
NM_014244.5(ADAMTS2):c.*534G>A	9509	ADAMTS2	Benign	rs73806885	RCV001154151;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540334	178540334	5:g.178540334C>T	-
NM_014244.5(ADAMTS2):c.*524G>A	9509	ADAMTS2	Uncertain significance	rs565021011	RCV001154152;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540344	178540344	5:g.178540344C>T	-
NM_014244.5(ADAMTS2):c.*518G>T	9509	ADAMTS2	Uncertain significance	rs1762600191	RCV001154153;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540350	178540350	5:g.178540350C>A	-
NM_014244.5(ADAMTS2):c.*445G>A	9509	ADAMTS2	Benign	rs73806886	RCV000378590;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540423	178540423	NC_000005.9:g.178540423C>T	ClinGen:CA10624259	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*353C>T	9509	ADAMTS2	Uncertain significance	rs886060487	RCV000283591;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540515	178540515	NC_000005.9:g.178540515G>A	ClinGen:CA10621501	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*288G>A	9509	ADAMTS2	Benign	rs59090242	RCV000343282;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540580	178540580	5:g.178540580C>T	ClinGen:CA10621503	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*222C>T	9509	ADAMTS2	Uncertain significance	rs886060488	RCV000379155;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540646	178540646	5:g.178540646G>A	ClinGen:CA10624378	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*212A>C	9509	ADAMTS2	Benign	rs10479525	RCV000279961\|RCV001662326;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178540656	178540656	5:g.178540656T>G	ClinGen:CA10624385	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*183T>C	9509	ADAMTS2	Uncertain significance	rs184732586	RCV000335057;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540685	178540685	5:g.178540685A>G	ClinGen:CA10624386	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*181C>T	9509	ADAMTS2	Uncertain significance	rs886060489	RCV000390285;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540687	178540687	5:g.178540687G>A	ClinGen:CA10620194	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.*174G>A	9509	ADAMTS2	Uncertain significance	rs1057408727	RCV001154992;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540694	178540694	5:g.178540694C>T	-
NC_000005.10:g.(?_179113857)_(179345338_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV001032534;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540858	178772339	-1	-
NC_000005.9:g.(?_178540858)_(178772339_?)del	9509	ADAMTS2	Pathogenic	-1	RCV001381825;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540858	178772339	-1	-
NC_000005.9:g.(?_178540868)_(178700085_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV003116716;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540868	178700085		-
NM_014244.5(ADAMTS2):c.3627A>G (p.Gly1209=)	9509	ADAMTS2	Likely benign	rs1290092850	RCV000936098;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540877	178540877	5:g.178540877T>C	-
NM_014244.5(ADAMTS2):c.3625G>A (p.Gly1209Arg)	9509	ADAMTS2	Uncertain significance	rs769813298	RCV000492950\|RCV001834600;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540879	178540879	5:g.178540879C>T	ClinGen:CA3595186	CN169374 not specified;
NM_014244.5(ADAMTS2):c.3624C>T (p.Leu1208=)	9509	ADAMTS2	Likely benign	rs139420412	RCV000945837\|RCV001697517;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178540880	178540880	5:g.178540880G>A	ClinGen:CA3595187	CN169374 not specified;
NM_014244.5(ADAMTS2):c.3615A>G (p.Lys1205_Glu1206=)	9509	ADAMTS2	Likely benign	-1	RCV003060994;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540889	178540889	NC_000005.9:g.178540889T>C	-
NM_014244.5(ADAMTS2):c.3609G>A (p.Arg1203=)	9509	ADAMTS2	Likely benign	-1	RCV001475070;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540895	178540895	178540895	-
NM_014244.5(ADAMTS2):c.3608G>A (p.Arg1203Gln)	9509	ADAMTS2	Uncertain significance	rs772059202	RCV000689330;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540896	178540896	NC_000005.9:g.178540896C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3606G>A (p.Met1202Ile)	9509	ADAMTS2	Uncertain significance	rs1278681689	RCV000701523;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540898	178540898	NC_000005.9:g.178540898C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3603G>T (p.Glu1201Asp)	9509	ADAMTS2	Uncertain significance	rs1762614743	RCV001202828;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540901	178540901	5:g.178540901C>A	-
NM_014244.5(ADAMTS2):c.3597T>C (p.Ile1199=)	9509	ADAMTS2	Likely benign	rs1245816073	RCV000937648;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540907	178540907	5:g.178540907A>G	-
NM_014244.5(ADAMTS2):c.3592C>T (p.Leu1198Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV003141197;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540912	178540912	NC_000005.9:g.178540912G>A	-
NM_014244.5(ADAMTS2):c.3590A>G (p.Glu1197Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV002278021\|RCV003096263;	N	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540914	178540914	178540914	-
NM_014244.5(ADAMTS2):c.3576C>T (p.Asn1192_Gln1193=)	9509	ADAMTS2	Likely benign	-1	RCV002628652;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540928	178540928	NC_000005.9:g.178540928G>A	-
NM_014244.5(ADAMTS2):c.3575A>G (p.Asn1192Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001773333\|RCV002540587;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540929	178540929	178540929	-
NM_014244.5(ADAMTS2):c.3573A>G (p.Arg1191=)	9509	ADAMTS2	Likely benign	-1	RCV001406605;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540931	178540931	178540931	-
NM_014244.5(ADAMTS2):c.3567G>A (p.Lys1189_Thr1190=)	9509	ADAMTS2	Likely benign	-1	RCV002837916;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540937	178540937	NC_000005.9:g.178540937C>T	-
NM_014244.5(ADAMTS2):c.3561T>C (p.Tyr1187=)	9509	ADAMTS2	Likely benign	-1	RCV002152218;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540943	178540943	178540943	-
NM_014244.5(ADAMTS2):c.3552G>A (p.Pro1184=)	9509	ADAMTS2	Likely benign	rs185794582	RCV000877278;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540952	178540952	5:g.178540952C>T	-
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs150989902	RCV000519977\|RCV001081079\|RCV001192589;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178540953	178540953	5:g.178540953G>A	ClinGen:CA3595203	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3548G>A (p.Arg1183Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002882302;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540956	178540956	NC_000005.9:g.178540956C>T	-
NM_014244.5(ADAMTS2):c.3547C>T (p.Arg1183Ter)	9509	ADAMTS2	Uncertain significance	rs781618824	RCV001243112\|RCV001751485;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178540957	178540957	5:g.178540957G>A	-
NM_014244.5(ADAMTS2):c.3545G>A (p.Arg1182Gln)	9509	ADAMTS2	Uncertain significance	rs140845527	RCV000556300\|RCV001551570;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178540959	178540959	NC_000005.9:g.178540959C>T	ClinGen:CA3595208	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3544C>T (p.Arg1182Ter)	9509	ADAMTS2	Uncertain significance	rs367553801	RCV000646236;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540960	178540960	NC_000005.9:g.178540960G>A	ClinGen:CA3595209	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3543T>C (p.Pro1181_Arg1182=)	9509	ADAMTS2	Likely benign	-1	RCV002834035;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540961	178540961	NC_000005.9:g.178540961A>G	-
NM_014244.5(ADAMTS2):c.3529_3530delinsTT (p.Pro1177Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV002045324;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540974	178540975	178540974	-
NM_014244.5(ADAMTS2):c.3530C>T (p.Pro1177Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002938609\|RCV002938610;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178540974	178540974	NC_000005.9:g.178540974G>A	-
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser)	9509	ADAMTS2	Benign	rs1054480	RCV000299782\|RCV000422671;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178540975	178540975	5:g.178540975G>A	ClinGen:CA3595212,UniProtKB:O95450#VAR_020059	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3522C>A (p.Val1174=)	9509	ADAMTS2	Likely benign	-1	RCV001500706;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540982	178540982	178540982	-
NM_014244.5(ADAMTS2):c.3513A>G (p.Glu1171_Asp1172=)	9509	ADAMTS2	Likely benign	-1	RCV003067059;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540991	178540991	NC_000005.9:g.178540991T>C	-
NM_014244.5(ADAMTS2):c.3510G>A (p.Leu1170=)	9509	ADAMTS2	Likely benign	-1	RCV002180261;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540994	178540994	178540994	-
NM_014244.5(ADAMTS2):c.3508C>A (p.Leu1170Met)	9509	ADAMTS2	Uncertain significance	-1	RCV002030173;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540996	178540996	178540996	-
NM_014244.5(ADAMTS2):c.3508C>T (p.Leu1170=)	9509	ADAMTS2	Likely benign	-1	RCV002143061;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178540996	178540996	178540996	-
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val)	9509	ADAMTS2	Benign	rs117187367	RCV000350109\|RCV001706583;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178540998	178540998	5:g.178540998C>A	ClinGen:CA3595215	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3504T>C (p.His1168=)	9509	ADAMTS2	Likely benign	-1	RCV002103296;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541000	178541000	178541000	-
NM_014244.5(ADAMTS2):c.3503A>G (p.His1168Arg)	9509	ADAMTS2	Uncertain significance	rs141541318	RCV000695602\|RCV002532312;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178541001	178541001	5:g.178541001T>C	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3503A>C (p.His1168Pro)	9509	ADAMTS2	Uncertain significance	-1	RCV001552230\|RCV001832755;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541001	178541001	178541001	-
NM_014244.5(ADAMTS2):c.3490C>T (p.Pro1164Ser)	9509	ADAMTS2	Uncertain significance	rs776115866	RCV001063245;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541014	178541014	5:g.178541014G>A	-
NM_014244.5(ADAMTS2):c.3489A>G (p.Glu1163=)	9509	ADAMTS2	Likely benign	-1	RCV002119949;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541015	178541015	178541015	-
NM_014244.5(ADAMTS2):c.3481G>A (p.Val1161Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV002899757;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541023	178541023	NC_000005.9:g.178541023C>T	-
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=)	9509	ADAMTS2	Benign	rs34437036	RCV000393112\|RCV000429745;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178541024	178541024	5:g.178541024G>T	ClinGen:CA3595222	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3480C>G (p.Ala1160=)	9509	ADAMTS2	Uncertain significance	rs34437036	RCV001277845;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541024	178541024	5:g.178541024G>C	-
NM_014244.5(ADAMTS2):c.3480C>T (p.Ala1160=)	9509	ADAMTS2	Likely benign	-1	RCV001483009;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541024	178541024	178541024	-
NM_014244.5(ADAMTS2):c.3477T>C (p.Asn1159=)	9509	ADAMTS2	Likely benign	-1	RCV001506126;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541027	178541027	178541027	-
NM_014244.5(ADAMTS2):c.3465C>T (p.His1155=)	9509	ADAMTS2	Likely benign	-1	RCV001467441;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541039	178541039	178541039	-
NM_014244.5(ADAMTS2):c.3459G>A (p.Glu1153=)	9509	ADAMTS2	Likely benign	-1	RCV002191321;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541045	178541045	178541045	-
NM_014244.5(ADAMTS2):c.3455C>T (p.Thr1152Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV003083291;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541049	178541049	NC_000005.9:g.178541049G>A	-
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser)	9509	ADAMTS2	Uncertain significance	rs200982805	RCV000314856\|RCV001507662;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178541055	178541055	5:g.178541055T>C	ClinGen:CA3595227	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3427C>A (p.Pro1143Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002016760;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541077	178541077	178541077	-
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs886060490	RCV000369603;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541081	178541081	5:g.178541081C>T	ClinGen:CA10624260	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3420G>C (p.Leu1140=)	9509	ADAMTS2	Likely benign	-1	RCV001488514;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541084	178541084	178541084	-
NM_014244.5(ADAMTS2):c.3414C>A (p.Thr1138=)	9509	ADAMTS2	Likely benign	-1	RCV001471019;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541090	178541090	178541090	-
NM_014244.5(ADAMTS2):c.3408A>G (p.Pro1136_Ser1137=)	9509	ADAMTS2	Likely benign	-1	RCV002796789;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541096	178541096	NC_000005.9:g.178541096T>C	-
NM_014244.5(ADAMTS2):c.3401C>T (p.Pro1134Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV003011478;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541103	178541103	NC_000005.9:g.178541103G>A	-
NM_014244.5(ADAMTS2):c.3399G>T (p.Arg1133=)	9509	ADAMTS2	Likely benign	-1	RCV002172638;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541105	178541105	178541105	-
NM_014244.5(ADAMTS2):c.3398G>A (p.Arg1133Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV001933432;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541106	178541106	178541106	-
NM_014244.5(ADAMTS2):c.3397C>T (p.Arg1133Trp)	9509	ADAMTS2	Uncertain significance	-1	RCV001773158\|RCV001885061;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541107	178541107	178541107	-
NM_014244.5(ADAMTS2):c.3396G>A (p.Val1132=)	9509	ADAMTS2	Likely benign	-1	RCV001424798;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541108	178541108	178541108	-
NM_014244.5(ADAMTS2):c.3391G>A (p.Glu1131Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV001892438;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541113	178541113	178541113	-
NM_014244.5(ADAMTS2):c.3384A>G (p.Val1128=)	9509	ADAMTS2	Likely benign	-1	RCV001463693;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541120	178541120	178541120	-
NM_014244.5(ADAMTS2):c.3380C>T (p.Thr1127Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV001590196\|RCV001836462;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541124	178541124	178541124	-
NM_014244.5(ADAMTS2):c.3378C>T (p.Pro1126=)	9509	ADAMTS2	Likely benign	-1	RCV001503171;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541126	178541126	178541126	-
NM_014244.5(ADAMTS2):c.3376C>A (p.Pro1126Thr)	9509	ADAMTS2	Uncertain significance	rs557070498	RCV001053443;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541128	178541128	5:g.178541128G>T	-
NM_014244.5(ADAMTS2):c.3369C>T (p.Leu1123=)	9509	ADAMTS2	Likely benign	-1	RCV001398380;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541135	178541135	178541135	-
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe)	9509	ADAMTS2	Uncertain significance	rs201343773	RCV000270171;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541137	178541137	5:g.178541137G>A	ClinGen:CA3595247	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3366C>T (p.Thr1122=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	-1	RCV002158145\|RCV002277028;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178541138	178541138	178541138	-
NM_014244.5(ADAMTS2):c.3358A>G (p.Met1120Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002002044;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541146	178541146	178541146	-
NM_014244.5(ADAMTS2):c.3352G>A (p.Val1118Met)	9509	ADAMTS2	Uncertain significance	rs148717330	RCV000806256\|RCV001571675\|RCV002279540;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178541152	178541152	5:g.178541152C>T	-
NM_014244.5(ADAMTS2):c.3352G>C (p.Val1118Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002705623;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541152	178541152	NC_000005.9:g.178541152C>G	-
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs777279065	RCV000306540\|RCV000877713;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178541153	178541153	5:g.178541153G>A	ClinGen:CA3595250	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3345C>T (p.Asp1115=)	9509	ADAMTS2	Likely benign	-1	RCV002126965;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541159	178541159	178541159	-
NM_014244.5(ADAMTS2):c.3343G>A (p.Asp1115Asn)	9509	ADAMTS2	Uncertain significance	rs200022037	RCV000659041\|RCV000690015;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541161	178541161	5:g.178541161C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3343G>C (p.Asp1115His)	9509	ADAMTS2	Uncertain significance	-1	RCV003056061;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541161	178541161	NC_000005.9:g.178541161C>G	-
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs79606317	RCV000366120\|RCV001706584;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178541162	178541162	5:g.178541162G>A	ClinGen:CA3595252	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3339C>T (p.His1113=)	9509	ADAMTS2	Likely benign	-1	RCV001452012\|RCV001570194;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178541165	178541165	178541165	-
NM_014244.5(ADAMTS2):c.3337C>T (p.His1113Tyr)	9509	ADAMTS2	Uncertain significance	rs372096858	RCV001069918;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541167	178541167	5:g.178541167G>A	-
NM_014244.5(ADAMTS2):c.3330T>C (p.Pro1110_Gly1111=)	9509	ADAMTS2	Likely benign	-1	RCV002882045;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541174	178541174	NC_000005.9:g.178541174A>G	-
NM_014244.5(ADAMTS2):c.3327G>A (p.Pro1109=)	9509	ADAMTS2	Likely benign	-1	RCV001480455;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541177	178541177	178541177	-
NM_014244.5(ADAMTS2):c.3326C>T (p.Pro1109Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001917349;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541178	178541178	178541178	-
NM_014244.5(ADAMTS2):c.3319G>C (p.Glu1107Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV001884383;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541185	178541185	178541185	-
NM_014244.5(ADAMTS2):c.3318A>G (p.Ile1106Met)	9509	ADAMTS2	Uncertain significance	rs773167287	RCV001304510;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541186	178541186	178541186	-
NM_014244.5(ADAMTS2):c.3312C>A (p.Gly1104_Arg1105=)	9509	ADAMTS2	Likely benign	-1	RCV002614356;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541192	178541192	NC_000005.9:g.178541192G>T	-
NM_014244.5(ADAMTS2):c.3305T>G (p.Val1102Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV002587887;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541199	178541199	NC_000005.9:g.178541199A>C	-
NM_014244.5(ADAMTS2):c.3304G>A (p.Val1102Met)	9509	ADAMTS2	Uncertain significance	-1	RCV002746637;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541200	178541200	NC_000005.9:g.178541200C>T	-
NM_014244.5(ADAMTS2):c.3303C>T (p.Asn1101=)	9509	ADAMTS2	Likely benign	rs766731589	RCV000876974;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541201	178541201	5:g.178541201G>A	-
NM_014244.5(ADAMTS2):c.3300C>T (p.Thr1100=)	9509	ADAMTS2	Likely benign	-1	RCV001491580;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541204	178541204	178541204	-
NM_014244.5(ADAMTS2):c.3291C>T (p.Asn1097=)	9509	ADAMTS2	Likely benign	rs1581132604	RCV000978285\|RCV001436867;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541213	178541213	5:g.178541213G>A	-
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=)	9509	ADAMTS2	Benign/Likely benign	rs73806887	RCV000646243\|RCV001712704\|RCV002279443;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178541225	178541225	5:g.178541225A>G	ClinGen:CA3595263	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3267C>T (p.Cys1089=)	9509	ADAMTS2	Likely benign	-1	RCV001437642;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541237	178541237	178541237	-
NM_014244.5(ADAMTS2):c.3262C>T (p.Leu1088=)	9509	ADAMTS2	Likely benign	-1	RCV001432785;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541242	178541242	178541242	-
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=)	9509	ADAMTS2	Uncertain significance	rs1762622649	RCV001156651;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541243	178541243	5:g.178541243C>T	-
NM_014244.5(ADAMTS2):c.3258C>G (p.Asn1086Lys)	9509	ADAMTS2	Uncertain significance	rs1762622678	RCV001277846;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541246	178541246	5:g.178541246G>C	-
NM_014244.5(ADAMTS2):c.3255C>T (p.Tyr1085=)	9509	ADAMTS2	Likely benign	-1	RCV001459708;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541249	178541249	178541249	-
NM_014244.5(ADAMTS2):c.3252C>T (p.Gly1084=)	9509	ADAMTS2	Likely benign	-1	RCV001495034;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541252	178541252	178541252	-
NM_014244.5(ADAMTS2):c.3249A>C (p.Pro1083=)	9509	ADAMTS2	Likely benign	rs1581132628	RCV000930083\|RCV001487653;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541255	178541255	5:g.178541255T>G	-
NM_014244.5(ADAMTS2):c.3243C>T (p.Ser1081=)	9509	ADAMTS2	Likely benign	-1	RCV001432430;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541261	178541261	178541261	-
NM_014244.5(ADAMTS2):c.3237T>C (p.Tyr1079=)	9509	ADAMTS2	Likely benign	-1	RCV001416461;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541267	178541267	178541267	-
NM_014244.5(ADAMTS2):c.3234C>G (p.Arg1078=)	9509	ADAMTS2	Likely benign	rs1581132640	RCV000809517;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541270	178541270	5:g.178541270G>C	-
NM_014244.5(ADAMTS2):c.3232C>T (p.Arg1078Cys)	9509	ADAMTS2	Uncertain significance	rs755578308	RCV000548169;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541272	178541272	5:g.178541272G>A	ClinGen:CA3595267	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3231C>T (p.Ser1077_Arg1078=)	9509	ADAMTS2	Likely benign	-1	RCV002616354;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541273	178541273	NC_000005.9:g.178541273G>A	-
NM_014244.5(ADAMTS2):c.3219G>A (p.Met1073Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV002899262;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541285	178541285	NC_000005.9:g.178541285C>T	-
NM_014244.5(ADAMTS2):c.3216G>A (p.Arg1072=)	9509	ADAMTS2	Likely benign	-1	RCV001437835;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541288	178541288	178541288	-
NM_014244.5(ADAMTS2):c.3204A>C (p.Ser1068=)	9509	ADAMTS2	Likely benign	-1	RCV001399963;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541300	178541300	178541300	-
NM_014244.5(ADAMTS2):c.3195C>T (p.Gly1065=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs778572930	RCV001241752\|RCV001357030;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178541309	178541309	5:g.178541309G>A	-
NM_014244.5(ADAMTS2):c.3179-4T>A	9509	ADAMTS2	Likely benign	-1	RCV002209050;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178541329	178541329	178541329	-
NM_014244.5(ADAMTS2):c.3178+17T>C	9509	ADAMTS2	Likely benign	-1	RCV002927421;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548645	178548645	NC_000005.9:g.178548645A>G	-
NM_014244.5(ADAMTS2):c.3178+12G>T	9509	ADAMTS2	Likely benign	-1	RCV002101248;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548650	178548650	178548650	-
NM_014244.5(ADAMTS2):c.3178+11C>T	9509	ADAMTS2	Likely benign	-1	RCV002750488;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548651	178548651	NC_000005.9:g.178548651G>A	-
NC_000005.10:g.(?_179121651)_(179122783_?)del	9509	ADAMTS2	Uncertain significance	-1	RCV001033053;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548652	178549784	-1	-
NC_000005.9:g.(?_178548652)_(178700075_?)dup	9509	ADAMTS2	Likely pathogenic	-1	RCV002043578;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548652	178700075	-1	-
NM_014244.5(ADAMTS2):c.3178+8A>G	9509	ADAMTS2	Likely benign	-1	RCV002074537;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548654	178548654	178548654	-
NM_014244.5(ADAMTS2):c.3178+7G>A	9509	ADAMTS2	Likely benign	-1	RCV002192814;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548655	178548655	178548655	-
NM_014244.5(ADAMTS2):c.3178+7G>T	9509	ADAMTS2	Likely benign	-1	RCV002087720;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548655	178548655	178548655	-
NM_014244.5(ADAMTS2):c.3178+5C>T	9509	ADAMTS2	Uncertain significance	-1	RCV002942196;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548657	178548657	NC_000005.9:g.178548657G>A	-
NM_014244.5(ADAMTS2):c.3178+4A>G	9509	ADAMTS2	Uncertain significance	rs948167718	RCV000578519\|RCV001829612;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548658	178548658	5:g.178548658T>C	ClinGen:CA133025162	CN169374 not specified;
NM_014244.5(ADAMTS2):c.3174G>A (p.Ser1058=)	9509	ADAMTS2	Likely benign	rs1167217144	RCV000981275;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548666	178548666	5:g.178548666C>T	-
NM_014244.5(ADAMTS2):c.3174G>C (p.Ser1058=)	9509	ADAMTS2	Likely benign	-1	RCV001446237;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548666	178548666	178548666	-
NM_014244.5(ADAMTS2):c.3161_3163del (p.Ile1054del)	9509	ADAMTS2	Uncertain significance	-1	RCV002592063;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548677	178548679	NC_000005.9:g.178548677_178548679del	-
NM_014244.5(ADAMTS2):c.3159C>T (p.Pro1053=)	9509	ADAMTS2	Likely benign	-1	RCV002077523;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548681	178548681	178548681	-
NM_014244.5(ADAMTS2):c.3158C>A (p.Pro1053His)	9509	ADAMTS2	Uncertain significance	-1	RCV002667079;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548682	178548682	NC_000005.9:g.178548682G>T	-
NM_014244.5(ADAMTS2):c.3156G>A (p.Ser1052=)	9509	ADAMTS2	Likely benign	-1	RCV001447877\|RCV001587416;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178548684	178548684	178548684	-
NM_014244.5(ADAMTS2):c.3156G>T (p.Ser1052_Pro1053=)	9509	ADAMTS2	Likely benign	-1	RCV003008008;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548684	178548684	NC_000005.9:g.178548684C>A	-
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs201390756	RCV000842953\|RCV001156652\|RCV002538338;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178548686	178548686	5:g.178548686A>C	-
NM_014244.5(ADAMTS2):c.3151G>A (p.Asp1051Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV001589491\|RCV001836459;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548689	178548689	178548689	-
NM_014244.5(ADAMTS2):c.3150C>T (p.Pro1050=)	9509	ADAMTS2	Likely benign	-1	RCV002209955;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548690	178548690	178548690	-
NM_014244.5(ADAMTS2):c.3147C>T (p.Asp1049_Pro1050=)	9509	ADAMTS2	Likely benign	-1	RCV003118734;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548693	178548693	NC_000005.9:g.178548693G>A	-
NM_014244.5(ADAMTS2):c.3145G>A (p.Asp1049Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV002607766;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548695	178548695	NC_000005.9:g.178548695C>T	-
NM_014244.5(ADAMTS2):c.3144G>A (p.Pro1048=)	9509	ADAMTS2	Uncertain significance	-1	RCV001973047;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548696	178548696	178548696	-
NM_014244.5(ADAMTS2):c.3140G>A (p.Arg1047His)	9509	ADAMTS2	Uncertain significance	rs1413406706	RCV001331835;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548700	178548700	178548700	-
NM_014244.5(ADAMTS2):c.3138C>T (p.Ser1046=)	9509	ADAMTS2	Likely benign	-1	RCV001424502;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548702	178548702	178548702	-
NM_014244.5(ADAMTS2):c.3135G>A (p.Leu1045=)	9509	ADAMTS2	Likely benign	-1	RCV002198787;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548705	178548705	178548705	-
NM_014244.5(ADAMTS2):c.3121G>C (p.Val1041Leu)	9509	ADAMTS2	Uncertain significance	rs778184902	RCV000815667;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548719	178548719	5:g.178548719C>G	-
NM_014244.5(ADAMTS2):c.3120C>T (p.Tyr1040=)	9509	ADAMTS2	Likely benign	-1	RCV001472848;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548720	178548720	178548720	-
NM_014244.5(ADAMTS2):c.3117C>T (p.Ser1039=)	9509	ADAMTS2	Likely benign	-1	RCV002071101;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548723	178548723	178548723	-
NM_014244.5(ADAMTS2):c.3116G>A (p.Ser1039Asn)	9509	ADAMTS2	Uncertain significance	rs771197106	RCV000819807;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548724	178548724	5:g.178548724C>T	-
NM_014244.5(ADAMTS2):c.3097T>C (p.Ser1033Pro)	9509	ADAMTS2	Uncertain significance	-1	RCV002953110;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548743	178548743	NC_000005.9:g.178548743A>G	-
NM_014244.5(ADAMTS2):c.3096C>T (p.Ile1032=)	9509	ADAMTS2	Likely benign	-1	RCV001472077;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548744	178548744	178548744	-
NM_014244.5(ADAMTS2):c.3089-6C>T	9509	ADAMTS2	Likely benign	-1	RCV001495332;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548757	178548757	178548757	-
NM_014244.5(ADAMTS2):c.3089-7C>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs760424301	RCV001151188;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548758	178548758	5:g.178548758G>T	-
NM_014244.5(ADAMTS2):c.3089-8C>T	9509	ADAMTS2	Likely benign	-1	RCV002843891;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548759	178548759	NC_000005.9:g.178548759G>A	-
NM_014244.5(ADAMTS2):c.3089-8C>G	9509	ADAMTS2	Likely benign	-1	RCV002895170;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548759	178548759	NC_000005.9:g.178548759G>C	-
NM_014244.5(ADAMTS2):c.3089-9T>C	9509	ADAMTS2	Likely benign	-1	RCV002176430;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548760	178548760	178548760	-
NM_014244.5(ADAMTS2):c.3089-20C>T	9509	ADAMTS2	Likely benign	-1	RCV002815940;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178548771	178548771	NC_000005.9:g.178548771G>A	-
NM_014244.5(ADAMTS2):c.3088+15G>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs910578729	RCV001174852\|RCV002067866;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549630	178549630	5:g.178549630C>T	-
NM_014244.5(ADAMTS2):c.3088+12G>A	9509	ADAMTS2	Likely benign	-1	RCV002711040;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549633	178549633	NC_000005.9:g.178549633C>T	-
NM_014244.5(ADAMTS2):c.3088C>T (p.Arg1030Ter)	9509	ADAMTS2	Pathogenic	rs966437723	RCV000705282;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549645	178549645	NC_000005.9:g.178549645G>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3080C>T (p.Pro1027Leu)	9509	ADAMTS2	Uncertain significance	rs1340671554	RCV001062628;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549653	178549653	5:g.178549653G>A	-
NM_014244.5(ADAMTS2):c.3079C>T (p.Pro1027Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001763961\|RCV002503222;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549654	178549654	178549654	-
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs886060491	RCV000271556;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549655	178549655	5:g.178549655G>A	ClinGen:CA10621511	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3078C>A (p.Gly1026=)	9509	ADAMTS2	Likely benign	rs886060491	RCV000646248;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549655	178549655	NC_000005.9:g.178549655G>T	ClinGen:CA448027096	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser)	9509	ADAMTS2	Uncertain significance	rs1762784582	RCV001151189;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549661	178549661	5:g.178549661C>A	-
NM_014244.5(ADAMTS2):c.3070del (p.Arg1024fs)	9509	ADAMTS2	Likely pathogenic	rs1554123627	RCV000669797;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549663	178549663	5:g.178549663_178549663del	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3069C>T (p.Cys1023=)	9509	ADAMTS2	Likely benign	-1	RCV001441815;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549664	178549664	178549664	-
NM_014244.5(ADAMTS2):c.3064A>T (p.Thr1022Ser)	9509	ADAMTS2	Uncertain significance	rs1434954526	RCV000699018;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549669	178549669	NC_000005.9:g.178549669T>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3062G>A (p.Arg1021Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV001918852;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549671	178549671	178549671	-
NM_014244.5(ADAMTS2):c.3060G>A (p.Ala1020=)	9509	ADAMTS2	Likely benign	rs61754844	RCV000878531\|RCV001655637;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178549673	178549673	5:g.178549673C>T	-
NM_014244.5(ADAMTS2):c.3059C>T (p.Ala1020Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002278013\|RCV003096262;	N	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549674	178549674	178549674	-
NM_014244.5(ADAMTS2):c.3051T>C (p.Pro1017=)	9509	ADAMTS2	Likely benign	-1	RCV002216888;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549682	178549682	178549682	-
NM_014244.5(ADAMTS2):c.3047_3048delinsTC (p.Arg1016Leu)	9509	ADAMTS2	Uncertain significance	rs1762785033	RCV001349551;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549685	178549686	178549685	-
NM_014244.5(ADAMTS2):c.3046C>T (p.Arg1016Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV002890686\|RCV002890685;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549687	178549687	NC_000005.9:g.178549687G>A	-
NM_014244.5(ADAMTS2):c.3045G>A (p.Glu1015=)	9509	ADAMTS2	Likely benign	-1	RCV002145440;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549688	178549688	178549688	-
NM_014244.5(ADAMTS2):c.3038A>C (p.Gln1013Pro)	9509	ADAMTS2	Uncertain significance	rs371013989	RCV000416133\|RCV001308381;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549695	178549695	5:g.178549695T>G	ClinGen:CA3595322	CN517202 not provided;
NM_014244.5(ADAMTS2):c.3030C>A (p.Gly1010_Ile1011=)	9509	ADAMTS2	Likely benign	-1	RCV002837620;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549703	178549703	NC_000005.9:g.178549703G>T	-
NM_014244.5(ADAMTS2):c.3028G>A (p.Gly1010Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001507663\|RCV002506587;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549705	178549705	178549705	-
NM_014244.5(ADAMTS2):c.3027C>T (p.Phe1009=)	9509	ADAMTS2	Likely benign	rs766033559	RCV000968449\|RCV001697922;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178549706	178549706	5:g.178549706G>A	ClinGen:CA3595326	CN169374 not specified;
NM_014244.5(ADAMTS2):c.3026_3027delinsAA (p.Phe1009Ter)	9509	ADAMTS2	Pathogenic	-1	RCV002871508;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549706	178549707	NC_000005.9:g.178549706_178549707delinsTT	-
NM_014244.5(ADAMTS2):c.3019G>A (p.Asp1007Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV002954210\|RCV002970933;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549714	178549714	NC_000005.9:g.178549714C>T	-
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs150535792	RCV000878394\|RCV001704739\|RCV002265819;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MedGen:CN169374	5	178549715	178549715	5:g.178549715G>A	ClinGen:CA3595329	CN169374 not specified;
NM_014244.5(ADAMTS2):c.3015G>T (p.Ala1005=)	9509	ADAMTS2	Likely benign	-1	RCV001420013;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549718	178549718	178549718	-
NM_014244.5(ADAMTS2):c.3015G>A (p.Ala1005_Asp1006=)	9509	ADAMTS2	Likely benign	-1	RCV002649939;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549718	178549718	NC_000005.9:g.178549718C>T	-
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val)	9509	ADAMTS2	Benign/Likely benign	rs79330641	RCV000537805\|RCV001721406\|RCV002279210;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178549719	178549719	5:g.178549719G>A	ClinGen:CA3595330	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.3013G>A (p.Ala1005Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002706734\|RCV002706735;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178549720	178549720	NC_000005.9:g.178549720C>T	-
NM_014244.5(ADAMTS2):c.3012C>T (p.Thr1004=)	9509	ADAMTS2	Likely benign	rs571054777	RCV000886096\|RCV001574151;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178549721	178549721	5:g.178549721G>A	-
NM_014244.5(ADAMTS2):c.3012C>G (p.Thr1004=)	9509	ADAMTS2	Likely benign	rs571054777	RCV000920640\|RCV001274077;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549721	178549721	5:g.178549721G>C	-
NM_014244.5(ADAMTS2):c.3012C>A (p.Thr1004=)	9509	ADAMTS2	Likely benign	-1	RCV001990974;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549721	178549721	178549721	-
NM_014244.5(ADAMTS2):c.3009C>G (p.Arg1003=)	9509	ADAMTS2	Likely benign	-1	RCV001399526;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549724	178549724	178549724	-
NM_014244.5(ADAMTS2):c.3003C>T (p.Leu1001=)	9509	ADAMTS2	Likely benign	-1	RCV002214062;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549730	178549730	178549730	-
NM_014244.5(ADAMTS2):c.3000G>C (p.Val1000_Leu1001=)	9509	ADAMTS2	Likely benign	-1	RCV003047107;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549733	178549733	NC_000005.9:g.178549733C>G	-
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs780314895	RCV000527204;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549739	178549739	5:g.178549739C>A	ClinGen:CA3595336	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2991G>A (p.Glu997=)	9509	ADAMTS2	Likely benign	rs1581137308	RCV000918101\|RCV001506263;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549742	178549742	5:g.178549742C>T	-
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser)	9509	ADAMTS2	Uncertain significance	rs142429109	RCV000321846\|RCV001544735;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178549753	178549753	5:g.178549753C>T	ClinGen:CA3595339	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2979C>T (p.Asn993=)	9509	ADAMTS2	Likely benign	rs747970179	RCV000892836;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549754	178549754	5:g.178549754G>A	-
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs769689633	RCV001151190\|RCV001697977;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178549763	178549763	5:g.178549763G>A	ClinGen:CA3595341	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2965G>C (p.Val989Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001966461;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549768	178549768	178549768	-
NM_014244.5(ADAMTS2):c.2961C>T (p.Cys987=)	9509	ADAMTS2	Likely benign	rs1581137330	RCV000927915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549772	178549772	5:g.178549772G>A	-
NM_014244.5(ADAMTS2):c.2959-4G>A	9509	ADAMTS2	Likely benign	-1	RCV002087550;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549778	178549778	178549778	-
NM_014244.5(ADAMTS2):c.2959-6C>G	9509	ADAMTS2	Likely benign	-1	RCV001433406;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549780	178549780	178549780	-
NM_014244.5(ADAMTS2):c.2959-7C>G	9509	ADAMTS2	Uncertain significance	rs748783596	RCV001242963;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549781	178549781	5:g.178549781G>C	-
NM_014244.5(ADAMTS2):c.2959-7C>T	9509	ADAMTS2	Likely benign	-1	RCV002933876;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549781	178549781	NC_000005.9:g.178549781G>A	-
NM_014244.5(ADAMTS2):c.2959-10C>A	9509	ADAMTS2	Likely benign	-1	RCV002715919;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549784	178549784	NC_000005.9:g.178549784G>T	-
NM_014244.5(ADAMTS2):c.2959-12C>G	9509	ADAMTS2	Likely benign	-1	RCV002098258;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549786	178549786	178549786	-
NM_014244.5(ADAMTS2):c.2959-13T>C	9509	ADAMTS2	Likely benign	-1	RCV003009208;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549787	178549787	NC_000005.9:g.178549787A>G	-
NM_014244.5(ADAMTS2):c.2959-16G>A	9509	ADAMTS2	Benign	rs6863024	RCV000421599\|RCV002059645;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549790	178549790	5:g.178549790C>T	ClinGen:CA3595347	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2959-16G>T	9509	ADAMTS2	Likely benign	-1	RCV002099398;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549790	178549790	178549790	-
NM_014244.5(ADAMTS2):c.2959-17C>T	9509	ADAMTS2	Benign	rs2303641	RCV000380665\|RCV000590290\|RCV000614977;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178549791	178549791	5:g.178549791G>A	ClinGen:CA3595348	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2958+20C>T	9509	ADAMTS2	Benign/Likely benign	rs200469634	RCV000605562\|RCV002063060;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551954	178551954	5:g.178551954G>A	ClinGen:CA3595357	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2958+14C>T	9509	ADAMTS2	Uncertain significance	rs755961602	RCV001154257;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551960	178551960	5:g.178551960G>A	-
NM_014244.5(ADAMTS2):c.2958+14del	9509	ADAMTS2	Benign	-1	RCV002182241;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551960	178551960	178551959	-
NM_014244.5(ADAMTS2):c.2958+10C>T	9509	ADAMTS2	Likely benign	-1	RCV001461253;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551964	178551964	178551964	-
NM_014244.5(ADAMTS2):c.2958+10C>G	9509	ADAMTS2	Likely benign	-1	RCV002134457;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551964	178551964	178551964	-
NM_014244.5(ADAMTS2):c.2958+8A>G	9509	ADAMTS2	Likely benign	-1	RCV002122372;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551966	178551966	178551966	-
NM_014244.5(ADAMTS2):c.2958+7A>G	9509	ADAMTS2	Likely benign	-1	RCV001439878;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551967	178551967	178551967	-
NM_014244.5(ADAMTS2):c.2958+5G>A	9509	ADAMTS2	Uncertain significance	rs370239549	RCV001344878;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551969	178551969	178551969	-
NM_014244.5(ADAMTS2):c.2958+4C>T	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs375345961	RCV000601722\|RCV001154258;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551970	178551970	5:g.178551970G>A	ClinGen:CA3595363	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2946G>T (p.Gly982=)	9509	ADAMTS2	Likely benign	-1	RCV002205157;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551986	178551986	178551986	-
NM_014244.5(ADAMTS2):c.2944G>A (p.Gly982Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002876731\|RCV002876732;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178551988	178551988	NC_000005.9:g.178551988C>T	-
NM_014244.5(ADAMTS2):c.2943C>T (p.Ala981=)	9509	ADAMTS2	Likely benign	-1	RCV001499699;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551989	178551989	178551989	-
NM_014244.5(ADAMTS2):c.2939G>A (p.Arg980Gln)	9509	ADAMTS2	Uncertain significance	rs1441303816	RCV001340507;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551993	178551993	178551993	-
NM_014244.5(ADAMTS2):c.2938C>T (p.Arg980Ter)	9509	ADAMTS2	Pathogenic	-1	RCV001383508;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551994	178551994	178551994	-
NM_014244.5(ADAMTS2):c.2938C>A (p.Arg980_Ala981=)	9509	ADAMTS2	Likely benign	-1	RCV002586718;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551994	178551994	NC_000005.9:g.178551994G>T	-
NM_014244.5(ADAMTS2):c.2933G>A (p.Arg978His)	9509	ADAMTS2	Uncertain significance	rs201998372	RCV001240352;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178551999	178551999	5:g.178551999C>T	-
NM_014244.5(ADAMTS2):c.2931T>C (p.Gly977=)	9509	ADAMTS2	Likely benign	-1	RCV002151690;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552001	178552001	178552001	-
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp)	9509	ADAMTS2	Uncertain significance	rs1200659345	RCV001154259;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552002	178552002	5:g.178552002C>T	-
NM_014244.5(ADAMTS2):c.2927del (p.Pro976fs)	9509	ADAMTS2	Pathogenic	rs1762828499	RCV001202920;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552005	178552005	5:g.178552005_178552005del	-
NM_014244.5(ADAMTS2):c.2925C>T (p.Cys975=)	9509	ADAMTS2	Likely benign	-1	RCV002076695;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552007	178552007	178552007	-
NM_014244.5(ADAMTS2):c.2916C>A (p.Arg972=)	9509	ADAMTS2	Likely benign	-1	RCV002160586;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552016	178552016	178552016	-
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys)	9509	ADAMTS2	Uncertain significance	rs867846785	RCV000376526;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552018	178552018	5:g.178552018G>A	ClinGen:CA10624265	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln)	9509	ADAMTS2	Uncertain significance	rs777490675	RCV001154260;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552029	178552029	5:g.178552029C>T	-
NM_014244.5(ADAMTS2):c.2902C>T (p.Arg968Trp)	9509	ADAMTS2	Uncertain significance	rs1473580610	RCV001242766;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552030	178552030	5:g.178552030G>A	-
NM_014244.5(ADAMTS2):c.2900G>A (p.Arg967His)	9509	ADAMTS2	Uncertain significance	rs775213299	RCV001245934;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552032	178552032	5:g.178552032C>T	-
NM_014244.5(ADAMTS2):c.2893G>A (p.Glu965Lys)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs144138766	RCV000839668\|RCV001082673;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552039	178552039	NC_000005.9:g.178552039C>T	ClinGen:CA3595380	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs546361762	RCV001154261\|RCV001706687;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552040	178552040	5:g.178552040G>A	ClinGen:CA3595381	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2888G>A (p.Arg963Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV003051313;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552044	178552044	NC_000005.9:g.178552044C>T	-
NM_014244.5(ADAMTS2):c.2885C>T (p.Ala962Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002612363;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552047	178552047	NC_000005.9:g.178552047G>A	-
NM_014244.5(ADAMTS2):c.2884G>A (p.Ala962Thr)	9509	ADAMTS2	Uncertain significance	rs773669935	RCV001242584;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552048	178552048	5:g.178552048C>T	-
NM_014244.5(ADAMTS2):c.2883C>T (p.Asp961=)	9509	ADAMTS2	Likely benign	rs370397254	RCV000910814;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552049	178552049	5:g.178552049G>A	-
NM_014244.5(ADAMTS2):c.2880T>C (p.Asn960=)	9509	ADAMTS2	Likely benign	rs1350390171	RCV000610320\|RCV001403249;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552052	178552052	5:g.178552052A>G	ClinGen:CA448028074	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2866G>A (p.Ala956Thr)	9509	ADAMTS2	Uncertain significance	rs375191740	RCV001277847;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552066	178552066	5:g.178552066C>T	-
NM_014244.5(ADAMTS2):c.2865C>T (p.His955=)	9509	ADAMTS2	Likely benign	rs752790963	RCV000954657;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552067	178552067	5:g.178552067G>A	-
NM_014244.5(ADAMTS2):c.2860G>A (p.Val954Met)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs368363548	RCV001248056\|RCV001577405;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552072	178552072	5:g.178552072C>T	-
NM_014244.5(ADAMTS2):c.2859C>T (p.Ser953=)	9509	ADAMTS2	Likely benign	-1	RCV001410477;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552073	178552073	178552073	-
NM_014244.5(ADAMTS2):c.2853C>A (p.Thr951=)	9509	ADAMTS2	Likely benign	-1	RCV002109843;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552079	178552079	178552079	-
NM_014244.5(ADAMTS2):c.2849C>T (p.Thr950Ile)	9509	ADAMTS2	Uncertain significance	rs1762830772	RCV001337661;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552083	178552083	178552083	-
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr)	9509	ADAMTS2	Uncertain significance	rs376054177	RCV001154262\|RCV001593296;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552086	178552086	5:g.178552086T>G	-
NM_014244.5(ADAMTS2):c.2842_2844del (p.Asp948del)	9509	ADAMTS2	Uncertain significance	rs765659887	RCV000478162\|RCV000800553;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552088	178552090	NC_000005.9:g.178552090_178552092del	ClinGen:CA3595399	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn)	9509	ADAMTS2	Uncertain significance	rs758419331	RCV001154263;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552090	178552090	5:g.178552090C>T	-
NM_014244.5(ADAMTS2):c.2841C>T (p.His947=)	9509	ADAMTS2	Likely benign	rs779661341	RCV000878073;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552091	178552091	5:g.178552091G>A	-
NM_014244.5(ADAMTS2):c.2840A>G (p.His947Arg)	9509	ADAMTS2	Uncertain significance	rs1762831111	RCV001326345;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552092	178552092	178552092	-
NM_014244.5(ADAMTS2):c.2838A>G (p.Leu946=)	9509	ADAMTS2	Likely benign	-1	RCV001494192;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552094	178552094	178552094	-
NM_014244.5(ADAMTS2):c.2835G>A (p.Pro945=)	9509	ADAMTS2	Likely benign	rs768390657	RCV000878223;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552097	178552097	5:g.178552097C>T	-
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu)	9509	ADAMTS2	Uncertain significance	rs200309353	RCV000267517\|RCV001569117;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552098	178552098	5:g.178552098G>A	ClinGen:CA3595404	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2832G>A (p.Gln944_Pro945=)	9509	ADAMTS2	Likely benign	-1	RCV003022814;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552100	178552100	NC_000005.9:g.178552100C>T	-
NM_014244.5(ADAMTS2):c.2826C>T (p.Cys942=)	9509	ADAMTS2	Uncertain significance	rs1397278885	RCV001334758;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552106	178552106	178552106	-
NM_014244.5(ADAMTS2):c.2821C>A (p.Arg941Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002929126\|RCV002958633;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552111	178552111	NC_000005.9:g.178552111G>T	-
NM_014244.5(ADAMTS2):c.2820G>A (p.Val940=)	9509	ADAMTS2	Likely benign	-1	RCV002076212;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552112	178552112	178552112	-
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met)	9509	ADAMTS2	Uncertain significance	rs367796431	RCV000322606\|RCV000762248\|RCV002252103;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|	5	178552114	178552114	5:g.178552114C>T	ClinGen:CA3595407	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs201215425	RCV000372697\|RCV001565796\|RCV002278586;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178552115	178552115	5:g.178552115G>A	ClinGen:CA3595408	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2814C>T (p.Arg938_Ser939=)	9509	ADAMTS2	Likely benign	-1	RCV002880897;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552118	178552118	NC_000005.9:g.178552118G>A	-
NM_014244.5(ADAMTS2):c.2812C>T (p.Arg938Cys)	9509	ADAMTS2	Uncertain significance	rs1302357894	RCV001327269\|RCV001773657;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552120	178552120	178552120	-
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs557019144	RCV000278166;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552121	178552121	5:g.178552121C>T	ClinGen:CA3595409	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala)	9509	ADAMTS2	Uncertain significance	rs886060492	RCV000337945\|RCV002278587;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178552135	178552135	5:g.178552135T>C	ClinGen:CA10621514	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs140022033	RCV000560281\|RCV001310889\|RCV002278653;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178552137	178552137	5:g.178552137C>T	ClinGen:CA3595412	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2794C>T (p.Arg932Trp)	9509	ADAMTS2	Uncertain significance	rs776975672	RCV001212667;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552138	178552138	5:g.178552138G>A	-
NM_014244.5(ADAMTS2):c.2793G>A (p.Gly931=)	9509	ADAMTS2	Likely benign	-1	RCV001481184;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552139	178552139	178552139	-
NM_014244.5(ADAMTS2):c.2787C>A (p.Thr929=)	9509	ADAMTS2	Likely benign	-1	RCV001469862;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552145	178552145	178552145	-
NM_014244.5(ADAMTS2):c.2787C>T (p.Thr929=)	9509	ADAMTS2	Likely benign	-1	RCV001480793;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552145	178552145	178552145	-
NM_014244.5(ADAMTS2):c.2787C>G (p.Thr929=)	9509	ADAMTS2	Likely benign	-1	RCV001505439\|RCV001569879;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552145	178552145	178552145	-
NM_014244.5(ADAMTS2):c.2780G>A (p.Ser927Asn)	9509	ADAMTS2	Uncertain significance	rs1193602528	RCV000523150\|RCV000817001;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552152	178552152	NC_000005.9:g.178552152C>T	ClinGen:CA362420749	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2773C>A (p.Pro925Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV003117006;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552159	178552159	NC_000005.9:g.178552159G>T	-
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=)	9509	ADAMTS2	Benign/Likely benign	rs144797464	RCV000876814\|RCV001593108;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178552169	178552169	5:g.178552169G>A	-
NM_014244.5(ADAMTS2):c.2757C>T (p.Val919_Thr920=)	9509	ADAMTS2	Likely benign	-1	RCV002868045;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552175	178552175	NC_000005.9:g.178552175G>A	-
NM_014244.5(ADAMTS2):c.2751-4G>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs112155474	RCV000373946\|RCV000512723\|RCV002278588;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178552185	178552185	5:g.178552185C>T	ClinGen:CA3595418	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2751-4G>T	9509	ADAMTS2	Likely benign	-1	RCV002183409;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552185	178552185	178552185	-
NM_014244.5(ADAMTS2):c.2751-5G>C	9509	ADAMTS2	Likely benign	-1	RCV002141754;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552186	178552186	178552186	-
NM_014244.5(ADAMTS2):c.2751-14C>T	9509	ADAMTS2	Likely benign	-1	RCV002885499;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552195	178552195	NC_000005.9:g.178552195G>A	-
NM_014244.5(ADAMTS2):c.2751-15G>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs376602983	RCV000442580\|RCV001155102;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552196	178552196	5:g.178552196C>T	ClinGen:CA3595421	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2751-16C>T	9509	ADAMTS2	Likely benign	-1	RCV002891034;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552197	178552197	NC_000005.9:g.178552197G>A	-
NM_014244.5(ADAMTS2):c.2751-19C>T	9509	ADAMTS2	Likely benign	-1	RCV002908762;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552200	178552200	NC_000005.9:g.178552200G>A	-
NM_014244.5(ADAMTS2):c.2751-20G>A	9509	ADAMTS2	Likely benign	-1	RCV002895251;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552201	178552201	NC_000005.9:g.178552201C>T	-
NM_014244.5(ADAMTS2):c.2750+17C>T	9509	ADAMTS2	Likely benign	-1	RCV002917611;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552982	178552982	NC_000005.9:g.178552982G>A	-
NM_014244.5(ADAMTS2):c.2750+12dup	9509	ADAMTS2	Benign	-1	RCV003091121;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552986	178552987	NC_000005.9:g.178552991dup	-
NM_014244.5(ADAMTS2):c.2750+10C>T	9509	ADAMTS2	Likely benign	rs1045751866	RCV000534775;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552989	178552989	NC_000005.9:g.178552989G>A	ClinGen:CA133030476	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2750+3G>A	9509	ADAMTS2	Uncertain significance	-1	RCV002790491;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178552996	178552996	NC_000005.9:g.178552996C>T	-
NM_014244.5(ADAMTS2):c.2748A>G (p.Pro916=)	9509	ADAMTS2	Likely benign	-1	RCV002176237;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553001	178553001	178553001	-
NM_014244.5(ADAMTS2):c.2742C>G (p.Ser914=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs567635584	RCV000979746\|RCV001434617\|RCV002279681;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178553007	178553007	5:g.178553007G>C	-
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=)	9509	ADAMTS2	Benign	rs6869261	RCV000293663\|RCV000430626\|RCV002278589;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178553019	178553019	NC_000005.9:g.178553019T>C	ClinGen:CA3595451	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2730A>T (p.Pro910=)	9509	ADAMTS2	Likely benign	-1	RCV001412929;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553019	178553019	178553019	-
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs151261888	RCV000348535\|RCV002278590;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178553022	178553022	NC_000005.9:g.178553022G>A	ClinGen:CA3595453	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2721G>A (p.Ala907=)	9509	ADAMTS2	Likely benign	-1	RCV001473229;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553028	178553028	178553028	-
NM_014244.5(ADAMTS2):c.2720C>T (p.Ala907Val)	9509	ADAMTS2	Uncertain significance	rs141654276	RCV000694002\|RCV002532247;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178553029	178553029	5:g.178553029G>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2719G>A (p.Ala907Thr)	9509	ADAMTS2	Uncertain significance	rs199617528	RCV001242341\|RCV001586084\|RCV002564024;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	178553030	178553030	5:g.178553030C>T	-
NM_014244.5(ADAMTS2):c.2716A>T (p.Arg906Ter)	9509	ADAMTS2	Pathogenic	-1	RCV001958755;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553033	178553033	178553033	-
NM_014244.5(ADAMTS2):c.2713C>T (p.Arg905Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV002022425;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553036	178553036	178553036	-
NM_014244.5(ADAMTS2):c.2709C>T (p.Ala903=)	9509	ADAMTS2	Likely benign	-1	RCV001452009;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553040	178553040	178553040	-
NM_014244.5(ADAMTS2):c.2703C>G (p.Pro901=)	9509	ADAMTS2	Likely benign	-1	RCV001434763;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553046	178553046	178553046	-
NM_014244.5(ADAMTS2):c.2697G>A (p.Ser899=)	9509	ADAMTS2	Likely benign	-1	RCV001444577;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553052	178553052	178553052	-
NM_014244.5(ADAMTS2):c.2696C>T (p.Ser899Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001825223;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553053	178553053	178553053	-
NM_014244.5(ADAMTS2):c.2689G>A (p.Ala897Thr)	9509	ADAMTS2	Uncertain significance	rs748245637	RCV001054588\|RCV002276604;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178553060	178553060	5:g.178553060C>T	-
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs370747086	RCV001156757;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553061	178553061	5:g.178553061G>A	-
NM_014244.5(ADAMTS2):c.2682C>T (p.Phe894_Cys895=)	9509	ADAMTS2	Likely benign	-1	RCV002917382;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553067	178553067	NC_000005.9:g.178553067G>A	-
NM_014244.5(ADAMTS2):c.2675G>A (p.Arg892His)	9509	ADAMTS2	Uncertain significance	-1	RCV002253038\|RCV003094119\|RCV003094118;	N	\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553074	178553074	178553074	-
NM_014244.5(ADAMTS2):c.2674C>T (p.Arg892Cys)	9509	ADAMTS2	Uncertain significance	rs1554123906	RCV000522690\|RCV001526417;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553075	178553075	5:g.178553075G>A	ClinGen:CA362422030	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2666T>C (p.Met889Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002792112;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553083	178553083	NC_000005.9:g.178553083A>G	-
NM_014244.5(ADAMTS2):c.2661C>T (p.His887=)	9509	ADAMTS2	Likely benign	-1	RCV001401434;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553088	178553088	178553088	-
NM_014244.5(ADAMTS2):c.2655G>A (p.Leu885=)	9509	ADAMTS2	Likely benign	-1	RCV001425005;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553094	178553094	178553094	-
NM_014244.5(ADAMTS2):c.2648G>A (p.Arg883Gln)	9509	ADAMTS2	Uncertain significance	rs772028555	RCV000646233;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553101	178553101	5:g.178553101C>T	ClinGen:CA3595473	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2644C>T (p.Arg882Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV003062963;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553105	178553105	NC_000005.9:g.178553105G>A	-
NM_014244.5(ADAMTS2):c.2637T>C (p.Tyr879=)	9509	ADAMTS2	Likely benign	-1	RCV002180418;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553112	178553112	178553112	-
NM_014244.5(ADAMTS2):c.2634G>A (p.Lys878=)	9509	ADAMTS2	Likely benign	-1	RCV001504842;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553115	178553115	178553115	-
NM_014244.5(ADAMTS2):c.2634G>C (p.Lys878Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV003141196;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553115	178553115	NC_000005.9:g.178553115C>G	-
NM_014244.5(ADAMTS2):c.2633A>G (p.Lys878Arg)	9509	ADAMTS2	Uncertain significance	rs374211371	RCV001277848\|RCV001797166;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178553116	178553116	5:g.178553116T>C	-
NM_014244.5(ADAMTS2):c.2631C>T (p.Thr877=)	9509	ADAMTS2	Likely benign	-1	RCV002130734;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553118	178553118	178553118	-
NM_014244.5(ADAMTS2):c.2628C>T (p.Phe876=)	9509	ADAMTS2	Likely benign	rs371021469	RCV000615546\|RCV002064094;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553121	178553121	5:g.178553121G>A	ClinGen:CA133030652	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2626T>C (p.Phe876Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002584235;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553123	178553123	NC_000005.9:g.178553123A>G	-
NM_014244.5(ADAMTS2):c.2622C>T (p.Ser874=)	9509	ADAMTS2	Likely benign	-1	RCV001431676;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553127	178553127	178553127	-
NM_014244.5(ADAMTS2):c.2618-9T>C	9509	ADAMTS2	Likely benign	-1	RCV002203968;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553140	178553140	178553140	-
NM_014244.5(ADAMTS2):c.2618-18C>T	9509	ADAMTS2	Likely benign	-1	RCV002119361;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553149	178553149	178553149	-
NM_014244.5(ADAMTS2):c.2618-20G>A	9509	ADAMTS2	Likely benign	-1	RCV002087347;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553151	178553151	178553151	-
NM_014244.5(ADAMTS2):c.2618-54C>T	9509	ADAMTS2	Benign	-1	RCV001540765\|RCV001543722;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178553185	178553185	178553185	-
NM_014244.5(ADAMTS2):c.2617+19del	9509	ADAMTS2	Likely benign	rs753157368	RCV000613648\|RCV002065349;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554941	178554941	5:g.178554941_178554941del	ClinGen:CA3595500	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2617+14G>A	9509	ADAMTS2	Likely benign	rs753127866	RCV000611353\|RCV002529687;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554946	178554946	5:g.178554946C>T	ClinGen:CA3595502	CN169374 not specified;
NC_000005.9:g.(?_178554950)_(178564955_?)dup	9509	ADAMTS2	Likely pathogenic	-1	RCV001377666;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554950	178564955	-1	-
NM_014244.5(ADAMTS2):c.2617+9dup	9509	ADAMTS2	Benign	-1	RCV002132229;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554950	178554951	178554950	-
NM_014244.5(ADAMTS2):c.2617+9G>T	9509	ADAMTS2	Likely benign	-1	RCV001465937;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554951	178554951	178554951	-
NM_014244.5(ADAMTS2):c.2617+9del	9509	ADAMTS2	Likely benign	-1	RCV001489489;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554951	178554951	178554950	-
NM_014244.5(ADAMTS2):c.2617+9G>A	9509	ADAMTS2	Likely benign	-1	RCV002201078;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554951	178554951	178554951	-
NM_014244.5(ADAMTS2):c.2617+8G>A	9509	ADAMTS2	Likely benign	-1	RCV002113966;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554952	178554952	178554952	-
NM_014244.5(ADAMTS2):c.2615G>T (p.Gly872Val)	9509	ADAMTS2	Uncertain significance	rs1338541722	RCV000819136;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554962	178554962	5:g.178554962C>A	-
NM_014244.5(ADAMTS2):c.2613C>T (p.Gly871=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs145016043	RCV000876571\|RCV001550328\|RCV002279590;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178554964	178554964	5:g.178554964G>A	-
NM_014244.5(ADAMTS2):c.2595G>T (p.Pro865=)	9509	ADAMTS2	Likely benign	-1	RCV001450242;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554982	178554982	178554982	-
NM_014244.5(ADAMTS2):c.2595G>A (p.Pro865=)	9509	ADAMTS2	Likely benign	-1	RCV002123889;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554982	178554982	178554982	-
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu)	9509	ADAMTS2	Uncertain significance	rs372549560	RCV001156758;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554983	178554983	5:g.178554983G>A	-
NM_014244.5(ADAMTS2):c.2592T>G (p.Ser864=)	9509	ADAMTS2	Likely benign	-1	RCV001396914;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554985	178554985	178554985	-
NM_014244.5(ADAMTS2):c.2591C>T (p.Ser864Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV003014656;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178554986	178554986	NC_000005.9:g.178554986G>A	-
NM_014244.5(ADAMTS2):c.2569G>A (p.Glu857Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV002628954;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555008	178555008	NC_000005.9:g.178555008C>T	-
NM_014244.5(ADAMTS2):c.2569G>T (p.Glu857Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003017992;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555008	178555008	NC_000005.9:g.178555008C>A	-
NM_014244.5(ADAMTS2):c.2568C>T (p.Tyr856=)	9509	ADAMTS2	Likely benign	-1	RCV001479630;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555009	178555009	178555009	-
NM_014244.5(ADAMTS2):c.2565C>A (p.Val855=)	9509	ADAMTS2	Likely benign	-1	RCV002195236;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555012	178555012	178555012	-
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs)	9509	ADAMTS2	Pathogenic/Likely pathogenic	rs1554124086	RCV000599211\|RCV002248814;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555015	178555016	5:g.178555015_178555016del	ClinGen:CA658796698	CN517202 not provided;
NM_014244.5(ADAMTS2):c.2559T>A (p.Ser853=)	9509	ADAMTS2	Likely benign	-1	RCV001403601;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555018	178555018	178555018	-
NM_014244.5(ADAMTS2):c.2559T>C (p.Ser853=)	9509	ADAMTS2	Likely benign	-1	RCV001482382;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555018	178555018	178555018	-
NM_014244.5(ADAMTS2):c.2558C>G (p.Ser853Cys)	9509	ADAMTS2	Uncertain significance	rs1057521585	RCV000439681\|RCV001274078;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555019	178555019	5:g.178555019G>C	ClinGen:CA16605344	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2557T>G (p.Ser853Ala)	9509	ADAMTS2	Uncertain significance	-1	RCV001878821;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555020	178555020	178555020	-
NM_014244.5(ADAMTS2):c.2547G>A (p.Leu849=)	9509	ADAMTS2	Likely benign	-1	RCV001396521;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555030	178555030	178555030	-
NM_014244.5(ADAMTS2):c.2545C>T (p.Leu849=)	9509	ADAMTS2	Likely benign	rs1581140577	RCV000908518\|RCV001442166;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555032	178555032	5:g.178555032G>A	-
NM_014244.5(ADAMTS2):c.2541C>T (p.Asn847=)	9509	ADAMTS2	Likely benign	-1	RCV001417162;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555036	178555036	178555036	-
NM_014244.5(ADAMTS2):c.2530GAC[1] (p.Asp845del)	9509	ADAMTS2	Uncertain significance	rs779695756	RCV001049988\|RCV002261263;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178555042	178555044	5:g.178555042_178555044del	-
NM_014244.5(ADAMTS2):c.2533G>C (p.Asp845His)	9509	ADAMTS2	Uncertain significance	rs76488852	RCV000684949;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555044	178555044	NC_000005.9:g.178555044C>G	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=)	9509	ADAMTS2	Benign	rs2303644	RCV000399683\|RCV000430441;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178555045	178555045	NC_000005.9:g.178555045G>A	ClinGen:CA3595523	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2530G>A (p.Asp844Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV001535764;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555047	178555047	178555047	-
NM_014244.5(ADAMTS2):c.2529C>T (p.Val843=)	9509	ADAMTS2	Likely benign	-1	RCV001442856;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555048	178555048	178555048	-
NM_014244.5(ADAMTS2):c.2514G>A (p.Glu838_Asp839=)	9509	ADAMTS2	Likely benign	-1	RCV002701224;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555063	178555063	NC_000005.9:g.178555063C>T	-
NM_014244.5(ADAMTS2):c.2508C>T (p.Ile836=)	9509	ADAMTS2	Likely benign	-1	RCV002142336;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555069	178555069	178555069	-
NM_014244.5(ADAMTS2):c.2506A>C (p.Ile836Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002606635;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555071	178555071	NC_000005.9:g.178555071T>G	-
NM_014244.5(ADAMTS2):c.2502C>T (p.Tyr834=)	9509	ADAMTS2	Likely benign	-1	RCV001437526;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555075	178555075	178555075	-
NM_014244.5(ADAMTS2):c.2493G>A (p.Thr831=)	9509	ADAMTS2	Likely benign	-1	RCV001464470;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555084	178555084	178555084	-
NM_014244.5(ADAMTS2):c.2492C>T (p.Thr831Met)	9509	ADAMTS2	Uncertain significance	rs7705437	RCV001238977;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555085	178555085	5:g.178555085G>A	-
NM_014244.5(ADAMTS2):c.2488C>T (p.Leu830=)	9509	ADAMTS2	Likely benign	-1	RCV001471631;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555089	178555089	178555089	-
NM_014244.5(ADAMTS2):c.2487A>C (p.Ser829=)	9509	ADAMTS2	Likely benign	rs201592583	RCV000935087;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555090	178555090	5:g.178555090T>G	-
NM_014244.5(ADAMTS2):c.2487A>T (p.Ser829=)	9509	ADAMTS2	Likely benign	-1	RCV002216304;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555090	178555090	178555090	-
NM_014244.5(ADAMTS2):c.2487A>G (p.Ser829=)	9509	ADAMTS2	Likely benign	-1	RCV002128492;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555090	178555090	178555090	-
NM_014244.5(ADAMTS2):c.2486C>A (p.Ser829Ter)	9509	ADAMTS2	Likely pathogenic	-1	RCV002309582;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555091	178555091	178555091	-
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)	9509	ADAMTS2	Benign/Likely benign	rs35445112	RCV000308254\|RCV000432102\|RCV002278591;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178555097	178555097	NC_000005.9:g.178555097C>T	ClinGen:CA3595531,UniProtKB:O95450#VAR_047931	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2479C>T (p.Arg827Trp)	9509	ADAMTS2	Uncertain significance	rs376995938	RCV000809701;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555098	178555098	5:g.178555098G>A	-
NM_014244.5(ADAMTS2):c.2477C>T (p.Thr826Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV003063292;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555100	178555100	NC_000005.9:g.178555100G>A	-
NM_014244.5(ADAMTS2):c.2472A>C (p.Gly824=)	9509	ADAMTS2	Likely benign	rs1581140650	RCV000980938\|RCV001453457;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555105	178555105	5:g.178555105T>G	-
NM_014244.5(ADAMTS2):c.2469G>A (p.Val823=)	9509	ADAMTS2	Likely benign	rs182103023	RCV000531147\|RCV001553393;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178555108	178555108	5:g.178555108C>T	ClinGen:CA3595533	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2466G>T (p.Pro822=)	9509	ADAMTS2	Likely benign	rs377085746	RCV000552746;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555111	178555111	5:g.178555111C>A	ClinGen:CA448033305	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2466G>A (p.Pro822=)	9509	ADAMTS2	Likely benign	-1	RCV001941595;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555111	178555111	178555111	-
NM_014244.5(ADAMTS2):c.2465C>T (p.Pro822Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001900625;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555112	178555112	178555112	-
NM_014244.5(ADAMTS2):c.2458-6_2458del	9509	ADAMTS2	Likely pathogenic	rs1057517277	RCV000411325;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555119	178555125	NC_000005.9:g.178555120_178555126del	ClinGen:CA16041007	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2458-2A>G	9509	ADAMTS2	Likely pathogenic	rs1762893262	RCV001245156;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555121	178555121	5:g.178555121T>C	-
NM_014244.5(ADAMTS2):c.2458-4dup	9509	ADAMTS2	Likely benign	-1	RCV001454889;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555122	178555123	178555122	-
NM_014244.5(ADAMTS2):c.2458-10del	9509	ADAMTS2	Likely benign	rs748892203	RCV000950997;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178555129	178555129	5:g.178555129_178555129del	-
NM_014244.5(ADAMTS2):c.2457+12C>G	9509	ADAMTS2	Likely benign	-1	RCV002627780;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556921	178556921	NC_000005.9:g.178556921G>C	-
NM_014244.5(ADAMTS2):c.2457+7C>A	9509	ADAMTS2	Likely benign	-1	RCV002159966;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556926	178556926	178556926	-
NM_014244.5(ADAMTS2):c.2457+1G>A	9509	ADAMTS2	Likely pathogenic	-1	RCV002042957;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556932	178556932	178556932	-
NM_014244.5(ADAMTS2):c.2454T>C (p.Val818=)	9509	ADAMTS2	Likely benign	-1	RCV002161746;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556936	178556936	178556936	-
NM_014244.5(ADAMTS2):c.2452G>A (p.Val818Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV002979886;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556938	178556938	NC_000005.9:g.178556938C>T	-
NM_014244.5(ADAMTS2):c.2451C>T (p.Thr817=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs138564815	RCV000933123\|RCV001414945\|RCV002279649;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178556939	178556939	5:g.178556939G>A	-
NM_014244.5(ADAMTS2):c.2450C>G (p.Thr817Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002647638;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556940	178556940	NC_000005.9:g.178556940G>C	-
NM_014244.5(ADAMTS2):c.2448C>T (p.Ile816_Thr817=)	9509	ADAMTS2	Likely benign	-1	RCV002943945;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556942	178556942	NC_000005.9:g.178556942G>A	-
NM_014244.5(ADAMTS2):c.2440_2445del (p.Gly814_Thr815del)	9509	ADAMTS2	Uncertain significance	-1	RCV003033512;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556945	178556950	NC_000005.9:g.178556946_178556951del	-
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs141661592	RCV000344325\|RCV001310890;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178556951	178556951	NC_000005.9:g.178556951G>A	ClinGen:CA3595559	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2436C>T (p.Leu812=)	9509	ADAMTS2	Likely benign	-1	RCV001483128;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556954	178556954	178556954	-
NM_014244.5(ADAMTS2):c.2430C>A (p.Gly810=)	9509	ADAMTS2	Likely benign	-1	RCV001449463;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556960	178556960	178556960	-
NM_014244.5(ADAMTS2):c.2430C>T (p.Gly810=)	9509	ADAMTS2	Likely benign	-1	RCV001492612;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556960	178556960	178556960	-
NM_014244.5(ADAMTS2):c.2422del (p.Thr808fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV001375583;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556968	178556968	178556967	-
NM_014244.5(ADAMTS2):c.2418G>A (p.Leu806=)	9509	ADAMTS2	Likely benign	-1	RCV002215546;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556972	178556972	178556972	-
NM_014244.5(ADAMTS2):c.2415G>A (p.Thr805=)	9509	ADAMTS2	Likely benign	-1	RCV002107214;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556975	178556975	178556975	-
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met)	9509	ADAMTS2	Uncertain significance	rs370350117	RCV000646234\|RCV002266996;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178556976	178556976	5:g.178556976G>A	ClinGen:CA3595564	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2412G>A (p.Glu804=)	9509	ADAMTS2	Likely benign	-1	RCV001506236;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556978	178556978	178556978	-
NM_014244.5(ADAMTS2):c.2407C>G (p.Arg803Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV002765831;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556983	178556983	NC_000005.9:g.178556983G>C	-
NM_014244.5(ADAMTS2):c.2407C>T (p.Arg803Trp)	9509	ADAMTS2	Uncertain significance	-1	RCV002914350;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556983	178556983	NC_000005.9:g.178556983G>A	-
NM_014244.5(ADAMTS2):c.2404G>A (p.Gly802Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002918120;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556986	178556986	NC_000005.9:g.178556986C>T	-
NM_014244.5(ADAMTS2):c.2403C>T (p.Asp801=)	9509	ADAMTS2	Likely benign	rs374315892	RCV000900115;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556987	178556987	5:g.178556987G>A	-
NM_014244.5(ADAMTS2):c.2398G>A (p.Glu800Lys)	9509	ADAMTS2	Uncertain significance	rs747447840	RCV000810582;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556992	178556992	5:g.178556992C>T	-
NM_014244.5(ADAMTS2):c.2398G>T (p.Glu800Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003038615;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556992	178556992	NC_000005.9:g.178556992C>A	-
NM_014244.5(ADAMTS2):c.2397C>T (p.Asp799=)	9509	ADAMTS2	Likely benign	-1	RCV002136015;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178556993	178556993	178556993	-
NM_014244.5(ADAMTS2):c.2388G>A (p.Glu796_Tyr797=)	9509	ADAMTS2	Likely benign	-1	RCV002650975;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557002	178557002	NC_000005.9:g.178557002C>T	-
NM_014244.5(ADAMTS2):c.2385G>A (p.Trp795Ter)	9509	ADAMTS2	Pathogenic	rs1762930637	RCV001039989;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557005	178557005	5:g.178557005C>T	-
NM_014244.5(ADAMTS2):c.2384G>A (p.Trp795Ter)	9509	ADAMTS2	Likely pathogenic	rs137853147	RCV000005838;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557006	178557006	5:g.178557006C>T	ClinGen:CA117558,OMIM:604539.0002	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs745407557	RCV000398825;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557008	178557008	NC_000005.9:g.178557008C>T	ClinGen:CA10624271	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2377G>A (p.Val793Met)	9509	ADAMTS2	Uncertain significance	-1	RCV002991425\|RCV003013232;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178557013	178557013	NC_000005.9:g.178557013C>T	-
NM_014244.5(ADAMTS2):c.2376C>T (p.Gly792=)	9509	ADAMTS2	Likely benign	rs779908624	RCV000616002\|RCV000877927;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557014	178557014	5:g.178557014G>A	ClinGen:CA3595578	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2372del (p.Met791fs)	9509	ADAMTS2	Pathogenic	-1	RCV001892960;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557018	178557018	178557017	-
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu)	9509	ADAMTS2	Uncertain significance	rs979142284	RCV001151312;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557034	178557034	5:g.178557034T>C	-
NM_014244.5(ADAMTS2):c.2355C>T (p.Ser785=)	9509	ADAMTS2	Likely benign	-1	RCV002170380;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557035	178557035	178557035	-
NM_014244.5(ADAMTS2):c.2351G>T (p.Ser784Ile)	9509	ADAMTS2	Uncertain significance	rs749754452	RCV001234561;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557039	178557039	5:g.178557039C>A	-
NM_014244.5(ADAMTS2):c.2343G>A (p.Val781=)	9509	ADAMTS2	Likely benign	-1	RCV001481368;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557047	178557047	178557047	-
NM_014244.5(ADAMTS2):c.2331A>G (p.Glu777=)	9509	ADAMTS2	Likely benign	-1	RCV002183253;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557059	178557059	178557059	-
NM_014244.5(ADAMTS2):c.2316G>A (p.Lys772_Phe773=)	9509	ADAMTS2	Likely benign	-1	RCV003060987;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557074	178557074	NC_000005.9:g.178557074C>T	-
NM_014244.5(ADAMTS2):c.2316del (p.Lys772fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV003144800;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557074	178557074	NC_000005.9:g.178557074del	-
NM_014244.5(ADAMTS2):c.2310A>G (p.Thr770=)	9509	ADAMTS2	Likely benign	-1	RCV001504009;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557080	178557080	178557080	-
NM_014244.5(ADAMTS2):c.2305G>C (p.Glu769Gln)	9509	ADAMTS2	Uncertain significance	rs867147371	RCV001237529;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557085	178557085	5:g.178557085C>G	-
NM_014244.5(ADAMTS2):c.2304G>T (p.Leu768=)	9509	ADAMTS2	Likely benign	-1	RCV002183378;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557086	178557086	178557086	-
NM_014244.5(ADAMTS2):c.2293G>A (p.Val765Ile)	9509	ADAMTS2	Uncertain significance	rs777314559	RCV000646242\|RCV002279470;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178557097	178557097	5:g.178557097C>T	ClinGen:CA3595587	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs188566209	RCV000309199\|RCV000841461\|RCV002278592;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178557098	178557098	NC_000005.9:g.178557098G>A	ClinGen:CA3595588	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2291-4T>G	9509	ADAMTS2	Likely benign	-1	RCV002178411;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557103	178557103	178557103	-
NM_014244.5(ADAMTS2):c.2291-8A>G	9509	ADAMTS2	Benign	rs140401199	RCV000359260\|RCV000420183;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178557107	178557107	NC_000005.9:g.178557107T>C	ClinGen:CA3595589	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2291-10C>T	9509	ADAMTS2	Likely benign	rs753601981	RCV000933693\|RCV001413565;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178557109	178557109	5:g.178557109G>A	-
NM_014244.5(ADAMTS2):c.2291-43T>C	9509	ADAMTS2	Benign	-1	RCV001543827\|RCV001655845;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178557142	178557142	178557142	-
NM_014244.5(ADAMTS2):c.2291-193G>A	9509	ADAMTS2	Benign	-1	RCV001543828\|RCV001720308;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178557292	178557292	178557292	-
NM_014244.5(ADAMTS2):c.2290+16G>A	9509	ADAMTS2	Likely benign	rs377081338	RCV000610906\|RCV002066631;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559215	178559215	5:g.178559215C>T	ClinGen:CA3595605	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2290+15C>T	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs764259203	RCV000408152;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559216	178559216	NC_000005.9:g.178559216G>A	ClinGen:CA3595606	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2290+13G>A	9509	ADAMTS2	Likely benign	-1	RCV002072848;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559218	178559218	178559218	-
NM_014244.5(ADAMTS2):c.2290+9C>T	9509	ADAMTS2	Likely benign	-1	RCV002877238;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559222	178559222	NC_000005.9:g.178559222G>A	-
NM_014244.5(ADAMTS2):c.2279G>C (p.Ser760Thr)	9509	ADAMTS2	Uncertain significance	rs781493524	RCV001277849;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559242	178559242	5:g.178559242C>G	-
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn)	9509	ADAMTS2	Uncertain significance	rs886060493	RCV000305770;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559245	178559245	NC_000005.9:g.178559245G>T	ClinGen:CA10620210	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2275A>G (p.Thr759Ala)	9509	ADAMTS2	Uncertain significance	-1	RCV003141198;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559246	178559246	NC_000005.9:g.178559246T>C	-
NM_014244.5(ADAMTS2):c.2272G>A (p.Ala758Thr)	9509	ADAMTS2	Uncertain significance	rs146222244	RCV000646241\|RCV000762249;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178559249	178559249	5:g.178559249C>T	ClinGen:CA3595611	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2271C>T (p.Asp757=)	9509	ADAMTS2	Likely benign	-1	RCV001471913;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559250	178559250	178559250	-
NM_014244.5(ADAMTS2):c.2268A>T (p.Val756_Asp757=)	9509	ADAMTS2	Likely benign	-1	RCV002592408;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559253	178559253	NC_000005.9:g.178559253T>A	-
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs141650732	RCV000646247\|RCV001079508\|RCV002279471;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178559254	178559254	5:g.178559254A>G	ClinGen:CA3595614	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2266G>A (p.Val756Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV001991837;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559255	178559255	178559255	-
NM_014244.5(ADAMTS2):c.2262G>A (p.Gln754=)	9509	ADAMTS2	Likely benign	-1	RCV001405257;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559259	178559259	178559259	-
NM_014244.5(ADAMTS2):c.2261A>G (p.Gln754Arg)	9509	ADAMTS2	Uncertain significance	rs779256197	RCV000818078;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559260	178559260	5:g.178559260T>C	-
NM_014244.5(ADAMTS2):c.2258T>C (p.Ile753Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002587959;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559263	178559263	NC_000005.9:g.178559263A>G	-
NM_014244.5(ADAMTS2):c.2244C>T (p.Ala748=)	9509	ADAMTS2	Likely benign	rs1581143017	RCV000980213;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559277	178559277	5:g.178559277G>A	-
NM_014244.5(ADAMTS2):c.2243C>T (p.Ala748Val)	9509	ADAMTS2	Uncertain significance	rs780473688	RCV000547241;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559278	178559278	NC_000005.9:g.178559278G>A	ClinGen:CA133034386	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2242G>A (p.Ala748Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002995873;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559279	178559279	NC_000005.9:g.178559279C>T	-
NM_014244.5(ADAMTS2):c.2230A>G (p.Ile744Val)	9509	ADAMTS2	Uncertain significance	rs201241062	RCV000646240\|RCV002530021;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178559291	178559291	NC_000005.9:g.178559291T>C	ClinGen:CA3595622	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2226T>A (p.Phe742Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001825232;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559295	178559295	178559295	-
NM_014244.5(ADAMTS2):c.2218A>G (p.Lys740Glu)	9509	ADAMTS2	Uncertain significance	rs946826671	RCV001278372;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559303	178559303	5:g.178559303T>C	-
NM_014244.5(ADAMTS2):c.2217C>T (p.Ile739_Lys740=)	9509	ADAMTS2	Likely benign	-1	RCV002574295;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559304	178559304	NC_000005.9:g.178559304G>A	-
NM_014244.5(ADAMTS2):c.2215A>G (p.Ile739Val)	9509	ADAMTS2	Uncertain significance	-1	RCV001926531;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559306	178559306	178559306	-
NM_014244.5(ADAMTS2):c.2214C>T (p.Tyr738=)	9509	ADAMTS2	Likely benign	-1	RCV002129208;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559307	178559307	178559307	-
NM_014244.5(ADAMTS2):c.2210G>T (p.Gly737Val)	9509	ADAMTS2	Uncertain significance	-1	RCV003061305;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559311	178559311	NC_000005.9:g.178559311C>A	-
NM_014244.5(ADAMTS2):c.2210-2del	9509	ADAMTS2	Benign	-1	RCV002109572;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559313	178559313	178559312	-
NM_014244.5(ADAMTS2):c.2210-4A>C	9509	ADAMTS2	Likely benign	-1	RCV002899034;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559315	178559315	NC_000005.9:g.178559315T>G	-
NM_014244.5(ADAMTS2):c.2210-4A>T	9509	ADAMTS2	Likely benign	-1	RCV002914836;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559315	178559315	NC_000005.9:g.178559315T>A	-
NM_014244.5(ADAMTS2):c.2210-9C>T	9509	ADAMTS2	Likely benign	-1	RCV001454640;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559320	178559320	178559320	-
NM_014244.5(ADAMTS2):c.2210-21_2210-20del	9509	ADAMTS2	Likely benign	rs531944108	RCV000481103\|RCV002526641;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559331	178559332	5:g.178559331_178559332del	ClinGen:CA3595629	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2209+9G>T	9509	ADAMTS2	Likely benign	-1	RCV002165658;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559769	178559769	178559769	-
NM_014244.5(ADAMTS2):c.2208T>C (p.His736=)	9509	ADAMTS2	Uncertain significance	-1	RCV001913825;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559779	178559779	178559779	-
NM_014244.5(ADAMTS2):c.2198C>G (p.Pro733Arg)	9509	ADAMTS2	Uncertain significance	rs1581143324	RCV001248083;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559789	178559789	5:g.178559789G>C	-
NM_014244.5(ADAMTS2):c.2192G>A (p.Arg731Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002795226;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559795	178559795	NC_000005.9:g.178559795C>T	-
NM_014244.5(ADAMTS2):c.2191C>T (p.Arg731Trp)	9509	ADAMTS2	Uncertain significance	rs997669873	RCV001048864;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559796	178559796	5:g.178559796G>A	-
NM_014244.5(ADAMTS2):c.2184G>A (p.Thr728=)	9509	ADAMTS2	Likely benign	-1	RCV001421730;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559803	178559803	178559803	-
NM_014244.5(ADAMTS2):c.2175C>T (p.Val725=)	9509	ADAMTS2	Likely benign	-1	RCV001465630;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559812	178559812	178559812	-
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs150587776	RCV000360859;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559815	178559815	NC_000005.9:g.178559815C>G	ClinGen:CA3595646	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2171T>A (p.Val724Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV002210971\|RCV003101223;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559816	178559816	178559816	-
NM_014244.5(ADAMTS2):c.2163C>T (p.His721=)	9509	ADAMTS2	Likely benign	-1	RCV002205985;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559824	178559824	178559824	-
NM_014244.5(ADAMTS2):c.2157C>T (p.Asn719_Ser720=)	9509	ADAMTS2	Likely benign	-1	RCV002593177;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559830	178559830	NC_000005.9:g.178559830G>A	-
NM_014244.5(ADAMTS2):c.2146G>A (p.Gly716Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV001937656;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559841	178559841	178559841	-
NM_014244.5(ADAMTS2):c.2146G>C (p.Gly716Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002304531;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559841	178559841	178559841	-
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs372661052	RCV000261327;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559842	178559842	NC_000005.9:g.178559842G>A	ClinGen:CA10624402	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2140G>A (p.Val714Met)	9509	ADAMTS2	Uncertain significance	-1	RCV002666619;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559847	178559847	NC_000005.9:g.178559847C>T	-
NM_014244.5(ADAMTS2):c.2110G>A (p.Gly704Ser)	9509	ADAMTS2	Uncertain significance	rs149708395	RCV000553670\|RCV001786401;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178559877	178559877	NC_000005.9:g.178559877C>T	ClinGen:CA3595656	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs200210415	RCV000316524\|RCV000842564;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178559878	178559878	NC_000005.9:g.178559878G>A	ClinGen:CA3595657	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=)	9509	ADAMTS2	Benign	rs560354978	RCV000877072;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559887	178559887	5:g.178559887G>A	-
NM_014244.5(ADAMTS2):c.2094C>G (p.Gly698_Cys699=)	9509	ADAMTS2	Likely benign	-1	RCV002785357;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559893	178559893	NC_000005.9:g.178559893G>C	-
NM_014244.5(ADAMTS2):c.2086-3C>T	9509	ADAMTS2	Uncertain significance	rs756427989	RCV001242896;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559904	178559904	5:g.178559904G>A	-
NM_014244.5(ADAMTS2):c.2086-5A>C	9509	ADAMTS2	Likely benign	-1	RCV002209945;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559906	178559906	178559906	-
NM_014244.5(ADAMTS2):c.2086-5A>G	9509	ADAMTS2	Likely benign	-1	RCV002876011;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559906	178559906	NC_000005.9:g.178559906T>C	-
NM_014244.5(ADAMTS2):c.2086-6C>T	9509	ADAMTS2	Likely benign	-1	RCV002087865;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559907	178559907	178559907	-
NM_014244.5(ADAMTS2):c.2086-9C>T	9509	ADAMTS2	Likely benign	-1	RCV002110579;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178559910	178559910	178559910	-
NM_014244.5(ADAMTS2):c.2085+18G>A	9509	ADAMTS2	Likely benign	-1	RCV002081242;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562892	178562892	178562892	-
NM_014244.5(ADAMTS2):c.2085+17C>T	9509	ADAMTS2	Likely benign	-1	RCV002143350;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562893	178562893	178562893	-
NM_014244.5(ADAMTS2):c.2085+17C>A	9509	ADAMTS2	Likely benign	-1	RCV002599265;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562893	178562893	NC_000005.9:g.178562893G>T	-
NM_014244.5(ADAMTS2):c.2085+11A>G	9509	ADAMTS2	Benign/Likely benign	rs139255728	RCV000610494\|RCV001154358;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562899	178562899	5:g.178562899T>C	ClinGen:CA3595693	CN169374 not specified;
NM_014244.5(ADAMTS2):c.2085+10C>T	9509	ADAMTS2	Likely benign	-1	RCV002207378;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562900	178562900	178562900	-
NC_000005.9:g.(?_178562901)_(178700075_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV001362925;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562901	178700075	-1	-
NM_014244.5(ADAMTS2):c.2085+8C>A	9509	ADAMTS2	Likely benign	rs199825726	RCV001278373;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562902	178562902	5:g.178562902G>T	-
NM_014244.5(ADAMTS2):c.2085+8C>T	9509	ADAMTS2	Likely benign	-1	RCV001466954;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562902	178562902	178562902	-
NM_014244.5(ADAMTS2):c.2085+1G>T	9509	ADAMTS2	Likely pathogenic	rs1763059235	RCV001051314;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562909	178562909	5:g.178562909C>A	-
NM_014244.5(ADAMTS2):c.2080T>C (p.Cys694Arg)	9509	ADAMTS2	Uncertain significance	rs1581145754	RCV000797051;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562915	178562915	5:g.178562915A>G	-
NM_014244.5(ADAMTS2):c.2075G>A (p.Gly692Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV002574124;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562920	178562920	NC_000005.9:g.178562920C>T	-
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=)	9509	ADAMTS2	Benign/Likely benign	rs149391669	RCV000357246\|RCV001718758;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178562922	178562922	NC_000005.9:g.178562922G>A	ClinGen:CA3595698	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2072G>A (p.Arg691His)	9509	ADAMTS2	Uncertain significance	-1	RCV003064347;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562923	178562923	NC_000005.9:g.178562923C>T	-
NM_014244.5(ADAMTS2):c.2071C>A (p.Arg691Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002593395;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562924	178562924	NC_000005.9:g.178562924G>T	-
NM_014244.5(ADAMTS2):c.2071C>T (p.Arg691Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV002926720;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562924	178562924	NC_000005.9:g.178562924G>A	-
NM_014244.5(ADAMTS2):c.2070G>A (p.Val690_Arg691=)	9509	ADAMTS2	Likely benign	-1	RCV002631586;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562925	178562925	NC_000005.9:g.178562925C>T	-
NM_014244.5(ADAMTS2):c.2055C>T (p.Ala685_Phe686=)	9509	ADAMTS2	Likely benign	-1	RCV002810769;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562940	178562940	NC_000005.9:g.178562940G>A	-
NM_014244.5(ADAMTS2):c.2054C>T (p.Ala685Val)	9509	ADAMTS2	Uncertain significance	-1	RCV003108594;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562941	178562941	NC_000005.9:g.178562941G>A	-
NM_014244.5(ADAMTS2):c.2052C>T (p.Asp684=)	9509	ADAMTS2	Likely benign	-1	RCV001430099;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562943	178562943	178562943	-
NM_014244.5(ADAMTS2):c.2052C>G (p.Asp684Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV003078904;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562943	178562943	NC_000005.9:g.178562943G>C	-
NM_014244.5(ADAMTS2):c.2047A>G (p.Lys683Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV003065332;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562948	178562948	NC_000005.9:g.178562948T>C	-
NM_014244.5(ADAMTS2):c.2046C>T (p.Tyr682=)	9509	ADAMTS2	Likely benign	-1	RCV002152764;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562949	178562949	178562949	-
NM_014244.5(ADAMTS2):c.2043C>T (p.Ser681=)	9509	ADAMTS2	Likely benign	-1	RCV002193524;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562952	178562952	178562952	-
NM_014244.5(ADAMTS2):c.2040C>T (p.Cys680=)	9509	ADAMTS2	Likely benign	-1	RCV001453606;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562955	178562955	178562955	-
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu)	9509	ADAMTS2	Uncertain significance	rs144554943	RCV000262694;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562959	178562959	NC_000005.9:g.178562959C>A	ClinGen:CA10621515	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2036G>A (p.Arg679His)	9509	ADAMTS2	Uncertain significance	rs144554943	RCV001092141\|RCV001304759;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562959	178562959	5:g.178562959C>T	-
NM_014244.5(ADAMTS2):c.2034G>A (p.Thr678=)	9509	ADAMTS2	Likely benign	rs139943837	RCV000646245;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562961	178562961	NC_000005.9:g.178562961C>T	ClinGen:CA3595707	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=)	9509	ADAMTS2	Benign	rs1972715	RCV000331878\|RCV000431081;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178562967	178562967	NC_000005.9:g.178562967G>A	ClinGen:CA3595709	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2025T>C (p.His675=)	9509	ADAMTS2	Likely benign	-1	RCV001442190;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562970	178562970	178562970	-
NM_014244.5(ADAMTS2):c.2018T>C (p.Met673Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002295483;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562977	178562977	178562977	-
NM_014244.5(ADAMTS2):c.2017A>G (p.Met673Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002628578;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562978	178562978	NC_000005.9:g.178562978T>C	-
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs200806292	RCV000386338\|RCV002278593;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178562980	178562980	NC_000005.9:g.178562980C>A	ClinGen:CA3595712	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.2004G>A (p.Val668=)	9509	ADAMTS2	Likely benign	-1	RCV002150803;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562991	178562991	178562991	-
NM_014244.5(ADAMTS2):c.1998G>A (p.Glu666=)	9509	ADAMTS2	Likely benign	-1	RCV001399452;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178562997	178562997	178562997	-
NM_014244.5(ADAMTS2):c.1995G>A (p.Gly665_Glu666=)	9509	ADAMTS2	Likely benign	-1	RCV003058640;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563000	178563000	NC_000005.9:g.178563000C>T	-
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg)	9509	ADAMTS2	Benign/Likely benign	rs35372714	RCV000435060\|RCV000514314\|RCV001082472\|RCV002279184;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178563002	178563002	5:g.178563002C>T	ClinGen:CA3595718	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1992C>T (p.Thr664_Gly665=)	9509	ADAMTS2	Likely benign	-1	RCV003073674;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563003	178563003	NC_000005.9:g.178563003G>A	-
NM_014244.5(ADAMTS2):c.1977C>T (p.Cys659=)	9509	ADAMTS2	Likely benign	rs758599662	RCV001243502;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563018	178563018	5:g.178563018G>A	-
NM_014244.5(ADAMTS2):c.1956G>A (p.Lys652=)	9509	ADAMTS2	Likely benign	-1	RCV001429294;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563039	178563039	178563039	-
NM_014244.5(ADAMTS2):c.1952-9C>T	9509	ADAMTS2	Likely benign	-1	RCV002877116;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563052	178563052	NC_000005.9:g.178563052G>A	-
NM_014244.5(ADAMTS2):c.1952-9C>G	9509	ADAMTS2	Likely benign	-1	RCV002877246;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563052	178563052	NC_000005.9:g.178563052G>C	-
NM_014244.5(ADAMTS2):c.1952-23_1952-16del	9509	ADAMTS2	Likely benign	-1	RCV002131092;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563059	178563066	178563058	-
NM_014244.5(ADAMTS2):c.1952-17A>C	9509	ADAMTS2	Likely benign	-1	RCV003041999;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563060	178563060	NC_000005.9:g.178563060T>G	-
NM_014244.5(ADAMTS2):c.1952-20C>T	9509	ADAMTS2	Likely benign	-1	RCV002853222;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178563063	178563063	NC_000005.9:g.178563063G>A	-
NM_014244.5(ADAMTS2):c.1952-82T>A	9509	ADAMTS2	Benign	-1	RCV001543829\|RCV001673167;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178563125	178563125	178563125	-
NM_014244.5(ADAMTS2):c.1951+18G>A	9509	ADAMTS2	Likely benign	-1	RCV002193992;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564752	178564752	178564752	-
NM_014244.5(ADAMTS2):c.1951+8C>G	9509	ADAMTS2	Likely benign	-1	RCV002819729;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564762	178564762	NC_000005.9:g.178564762G>C	-
NM_014244.5(ADAMTS2):c.1951+3G>T	9509	ADAMTS2	Uncertain significance	-1	RCV001904276;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564767	178564767	178564767	-
NM_014244.5(ADAMTS2):c.1946G>A (p.Arg649Gln)	9509	ADAMTS2	Uncertain significance	rs766541864	RCV001055019;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564775	178564775	5:g.178564775C>T	-
NM_014244.5(ADAMTS2):c.1945C>T (p.Arg649Trp)	9509	ADAMTS2	Uncertain significance	-1	RCV002899580;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564776	178564776	NC_000005.9:g.178564776G>A	-
NM_014244.5(ADAMTS2):c.1941G>A (p.Glu647_His648=)	9509	ADAMTS2	Likely benign	-1	RCV002795865;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564780	178564780	NC_000005.9:g.178564780C>T	-
NM_014244.5(ADAMTS2):c.1938C>T (p.His646=)	9509	ADAMTS2	Likely benign	-1	RCV001396453;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564783	178564783	178564783	-
NM_014244.5(ADAMTS2):c.1930C>T (p.Leu644=)	9509	ADAMTS2	Likely benign	-1	RCV001477328;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564791	178564791	178564791	-
NM_014244.5(ADAMTS2):c.1928_1929delinsAC (p.Trp643Tyr)	9509	ADAMTS2	Uncertain significance	rs1763091339	RCV001042672;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564792	178564793	NC_000005.9:g.178564792_178564793delinsGT	-
NM_014244.5(ADAMTS2):c.1923C>T (p.His641=)	9509	ADAMTS2	Likely benign	-1	RCV001477030;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564798	178564798	178564798	-
NM_014244.5(ADAMTS2):c.1920G>A (p.Gln640=)	9509	ADAMTS2	Likely benign	-1	RCV001423670;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564801	178564801	178564801	-
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs752737484	RCV000877570\|RCV002279592;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178564807	178564807	5:g.178564807G>A	-
NM_014244.5(ADAMTS2):c.1912G>A (p.Asp638Asn)	9509	ADAMTS2	Uncertain significance	rs376707472	RCV000798066;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564809	178564809	5:g.178564809C>T	-
NM_014244.5(ADAMTS2):c.1911C>T (p.Gly637=)	9509	ADAMTS2	Likely benign	rs142275705	RCV000803095\|RCV001561956;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564810	178564810	5:g.178564810G>A	-
NM_014244.5(ADAMTS2):c.1911C>G (p.Gly637=)	9509	ADAMTS2	Likely benign	-1	RCV001466553;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564810	178564810	178564810	-
NM_014244.5(ADAMTS2):c.1909G>A (p.Gly637Ser)	9509	ADAMTS2	Uncertain significance	rs201864255	RCV000805621\|RCV001565363;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564812	178564812	5:g.178564812C>T	-
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=)	9509	ADAMTS2	Benign	rs1862211	RCV000296770\|RCV000420820\|RCV002278594;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178564813	178564813	NC_000005.9:g.178564813G>A	ClinGen:CA3595749	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1906C>T (p.His636Tyr)	9509	ADAMTS2	Uncertain significance	-1	RCV002620885;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564815	178564815	NC_000005.9:g.178564815G>A	-
NM_014244.5(ADAMTS2):c.1905G>A (p.Glu635_His636=)	9509	ADAMTS2	Likely benign	-1	RCV002843624;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564816	178564816	NC_000005.9:g.178564816C>T	-
NM_014244.5(ADAMTS2):c.1904A>G (p.Glu635Gly)	9509	ADAMTS2	Uncertain significance	rs1763091963	RCV001315957\|RCV001760383;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564817	178564817	178564817	-
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys)	9509	ADAMTS2	Uncertain significance	rs371099308	RCV000524851\|RCV001508532;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564818	178564818	NC_000005.9:g.178564818C>T	ClinGen:CA3595751	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1903G>T (p.Glu635Ter)	9509	ADAMTS2	Pathogenic	-1	RCV002866358;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564818	178564818	NC_000005.9:g.178564818C>A	-
NM_014244.5(ADAMTS2):c.1902C>T (p.Phe634=)	9509	ADAMTS2	Likely benign	rs769205569	RCV000601117\|RCV001495826;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564819	178564819	5:g.178564819G>A	ClinGen:CA3595752	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1894C>T (p.Leu632=)	9509	ADAMTS2	Likely benign	-1	RCV001474687;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564827	178564827	178564827	-
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs140621260	RCV000331977\|RCV001697763\|RCV002278595\|RCV002520364;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MeSH:D030342,MedGen:C0950123	5	178564838	178564838	NC_000005.9:g.178564838C>T	ClinGen:CA3595756	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1882C>T (p.Arg628Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV001786854\|RCV001868884;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564839	178564839	178564839	-
NM_014244.5(ADAMTS2):c.1881C>T (p.Cys627=)	9509	ADAMTS2	Likely benign	-1	RCV001411763;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564840	178564840	178564840	-
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs376058580	RCV000268209\|RCV001084525;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564852	178564852	5:g.178564852G>A	ClinGen:CA3595761	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1869C>A (p.Arg623=)	9509	ADAMTS2	Likely benign	-1	RCV002127196;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564852	178564852	178564852	-
NM_014244.5(ADAMTS2):c.1867C>T (p.Arg623Cys)	9509	ADAMTS2	Uncertain significance	rs752401488	RCV000424464\|RCV001243984;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564854	178564854	5:g.178564854G>A	ClinGen:CA3595762	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1849G>A (p.Asp617Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV002838102;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564872	178564872	NC_000005.9:g.178564872C>T	-
NM_014244.5(ADAMTS2):c.1848C>T (p.Pro616=)	9509	ADAMTS2	Likely benign	rs569510744	RCV000925895;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564873	178564873	5:g.178564873G>A	-
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs569510744	RCV001155200;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564873	178564873	5:g.178564873G>C	-
NM_014244.5(ADAMTS2):c.1847C>T (p.Pro616Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001981852;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564874	178564874	178564874	-
NM_014244.5(ADAMTS2):c.1845C>A (p.Cys615Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003044403;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564876	178564876	NC_000005.9:g.178564876G>T	-
NM_014244.5(ADAMTS2):c.1836C>T (p.Arg612=)	9509	ADAMTS2	Likely benign	-1	RCV002112227;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564885	178564885	178564885	-
NM_014244.5(ADAMTS2):c.1835G>A (p.Arg612His)	9509	ADAMTS2	Uncertain significance	-1	RCV002043682;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564886	178564886	178564886	-
NM_014244.5(ADAMTS2):c.1834C>T (p.Arg612Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV001760593\|RCV002032870;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564887	178564887	178564887	-
NM_014244.5(ADAMTS2):c.1833C>T (p.Ser611_Arg612=)	9509	ADAMTS2	Likely benign	-1	RCV002619085;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564888	178564888	NC_000005.9:g.178564888G>A	-
NM_014244.5(ADAMTS2):c.1830C>T (p.Cys610=)	9509	ADAMTS2	Likely benign	-1	RCV002086014;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564891	178564891	178564891	-
NM_014244.5(ADAMTS2):c.1827C>T (p.Leu609=)	9509	ADAMTS2	Likely benign	-1	RCV002194175;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564894	178564894	178564894	-
NM_014244.5(ADAMTS2):c.1825C>T (p.Leu609Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV001907052;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564896	178564896	178564896	-
NM_014244.5(ADAMTS2):c.1824G>A (p.Gln608=)	9509	ADAMTS2	Likely benign	rs1581147040	RCV000929886\|RCV001449298;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564897	178564897	5:g.178564897C>T	-
NM_014244.5(ADAMTS2):c.1819T>C (p.Phe607Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002009803;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564902	178564902	178564902	-
NM_014244.5(ADAMTS2):c.1816G>A (p.Asp606Asn)	9509	ADAMTS2	Uncertain significance	rs138399615	RCV000497685\|RCV001834607;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564905	178564905	5:g.178564905C>T	ClinGen:CA3595770	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs369654932	RCV001155201\|RCV001548613;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564906	178564906	5:g.178564906G>A	-
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=)	9509	ADAMTS2	Benign	rs76754323	RCV000381868\|RCV000605846\|RCV002278596;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178564918	178564918	NC_000005.9:g.178564918C>T	ClinGen:CA3595772	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1802C>T (p.Ser601Leu)	9509	ADAMTS2	Uncertain significance	rs778186590	RCV001243034;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564919	178564919	5:g.178564919G>A	-
NM_014244.5(ADAMTS2):c.1800C>T (p.Cys600=)	9509	ADAMTS2	Likely benign	-1	RCV002201655;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564921	178564921	178564921	-
NM_014244.5(ADAMTS2):c.1793G>A (p.Arg598His)	9509	ADAMTS2	Uncertain significance	rs1304320729	RCV001321930;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564928	178564928	178564928	-
NM_014244.5(ADAMTS2):c.1791C>A (p.Gly597_Arg598=)	9509	ADAMTS2	Likely benign	-1	RCV002607253;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564930	178564930	NC_000005.9:g.178564930G>T	-
NM_014244.5(ADAMTS2):c.1788G>A (p.Gly596=)	9509	ADAMTS2	Likely benign	-1	RCV002118223;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564933	178564933	178564933	-
NM_014244.5(ADAMTS2):c.1785C>T (p.Asn595=)	9509	ADAMTS2	Likely benign	-1	RCV001443058;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564936	178564936	178564936	-
NM_014244.5(ADAMTS2):c.1783A>G (p.Asn595Asp)	9509	ADAMTS2	Uncertain significance	-1	RCV002015496;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564938	178564938	178564938	-
NM_014244.5(ADAMTS2):c.1778C>T (p.Pro593Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001508533\|RCV001882556;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564943	178564943	178564943	-
NM_014244.5(ADAMTS2):c.1776C>A (p.His592Gln)	9509	ADAMTS2	Uncertain significance	rs1561773783	RCV000694697;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564945	178564945	NC_000005.9:g.178564945G>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1776-7C>T	9509	ADAMTS2	Likely benign	-1	RCV002834206;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564952	178564952	NC_000005.9:g.178564952G>A	-
NM_014244.5(ADAMTS2):c.1776-8T>C	9509	ADAMTS2	Likely benign	-1	RCV002199880;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564953	178564953	178564953	-
NM_014244.5(ADAMTS2):c.1776-8T>G	9509	ADAMTS2	Likely benign	-1	RCV003093317;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564953	178564953	NC_000005.9:g.178564953A>C	-
NM_014244.5(ADAMTS2):c.1776-9C>T	9509	ADAMTS2	Likely benign	-1	RCV001425494;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564954	178564954	178564954	-
NM_014244.5(ADAMTS2):c.1776-11T>C	9509	ADAMTS2	Likely benign	-1	RCV002178441;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178564956	178564956	178564956	-
NM_014244.5(ADAMTS2):c.1776-26G>A	9509	ADAMTS2	Benign	-1	RCV001543830\|RCV001619958;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178564971	178564971	178564971	-
NM_014244.5(ADAMTS2):c.1775+18C>A	9509	ADAMTS2	Likely benign	-1	RCV002111723;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566873	178566873	178566873	-
NM_014244.5(ADAMTS2):c.1775+13C>A	9509	ADAMTS2	Likely benign	-1	RCV002140420;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566878	178566878	178566878	-
NM_014244.5(ADAMTS2):c.1775+9G>T	9509	ADAMTS2	Likely benign	-1	RCV001404876;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566882	178566882	178566882	-
NM_014244.5(ADAMTS2):c.1769A>C (p.Asn590Thr)	9509	ADAMTS2	Uncertain significance	rs145336133	RCV000817090;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566897	178566897	5:g.178566897T>G	-
NM_014244.5(ADAMTS2):c.1761G>C (p.Gln587His)	9509	ADAMTS2	Uncertain significance	-1	RCV002633861;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566905	178566905	NC_000005.9:g.178566905C>G	-
NM_014244.5(ADAMTS2):c.1755C>T (p.Thr585_Arg586=)	9509	ADAMTS2	Likely benign	-1	RCV002695691;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566911	178566911	NC_000005.9:g.178566911G>A	-
NM_014244.5(ADAMTS2):c.1750A>C (p.Arg584=)	9509	ADAMTS2	Likely benign	-1	RCV002168580;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566916	178566916	178566916	-
NM_014244.5(ADAMTS2):c.1746G>A (p.Lys582=)	9509	ADAMTS2	Likely benign	-1	RCV001499785;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566920	178566920	178566920	-
NM_014244.5(ADAMTS2):c.1741G>A (p.Val581Met)	9509	ADAMTS2	Uncertain significance	-1	RCV002016461;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566925	178566925	178566925	-
NM_014244.5(ADAMTS2):c.1740C>T (p.Gly580=)	9509	ADAMTS2	Likely benign	-1	RCV001892777;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566926	178566926	178566926	-
NM_014244.5(ADAMTS2):c.1728C>T (p.Thr576=)	9509	ADAMTS2	Likely benign	-1	RCV001411104;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566938	178566938	178566938	-
NM_014244.5(ADAMTS2):c.1725T>C (p.Arg575=)	9509	ADAMTS2	Likely benign	-1	RCV002167676;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566941	178566941	178566941	-
NM_014244.5(ADAMTS2):c.1723C>T (p.Arg575Cys)	9509	ADAMTS2	Uncertain significance	rs1212597027	RCV000525709;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566943	178566943	NC_000005.9:g.178566943G>A	ClinGen:CA362428003	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1712G>A (p.Gly571Asp)	9509	ADAMTS2	Uncertain significance	-1	RCV003021935;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566954	178566954	NC_000005.9:g.178566954C>T	-
NM_014244.5(ADAMTS2):c.1707G>A (p.Pro569=)	9509	ADAMTS2	Likely benign	rs749970172	RCV000963543;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566959	178566959	5:g.178566959C>T	-
NM_014244.5(ADAMTS2):c.1707G>C (p.Pro569=)	9509	ADAMTS2	Likely benign	-1	RCV002098581;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566959	178566959	178566959	-
NM_014244.5(ADAMTS2):c.1701G>T (p.Trp567Cys)	9509	ADAMTS2	Likely pathogenic	-1	RCV001563678;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566965	178566965	178566965	-
NM_014244.5(ADAMTS2):c.1701G>A (p.Trp567Ter)	9509	ADAMTS2	Likely pathogenic	-1	RCV002308150;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566965	178566965	178566965	-
NM_014244.5(ADAMTS2):c.1696G>A (p.Ala566Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV002287963\|RCV003097742;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566970	178566970	178566970	-
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=)	9509	ADAMTS2	Benign	rs116708837	RCV000547546\|RCV001704677;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178566971	178566971	NC_000005.9:g.178566971G>A	ClinGen:CA3595806	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1689C>T (p.Ser563=)	9509	ADAMTS2	Likely benign	-1	RCV002130740;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566977	178566977	178566977	-
NM_014244.5(ADAMTS2):c.1686C>T (p.Gly562_Ser563=)	9509	ADAMTS2	Likely benign	-1	RCV003042008;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566980	178566980	NC_000005.9:g.178566980G>A	-
NM_014244.5(ADAMTS2):c.1684G>A (p.Gly562Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001596460\|RCV001827546;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566982	178566982	178566982	-
NM_014244.5(ADAMTS2):c.1683C>A (p.Asp561Glu)	9509	ADAMTS2	Uncertain significance	rs368700721	RCV000706023;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566983	178566983	NC_000005.9:g.178566983G>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1683C>T (p.Asp561=)	9509	ADAMTS2	Likely benign	-1	RCV001406464;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566983	178566983	178566983	-
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val)	9509	ADAMTS2	Uncertain significance	rs1400281876	RCV001155202;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566997	178566997	5:g.178566997T>C	-
NM_014244.5(ADAMTS2):c.1668C>T (p.Asp556=)	9509	ADAMTS2	Likely benign	-1	RCV001453676;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178566998	178566998	178566998	-
NM_014244.5(ADAMTS2):c.1665T>C (p.Pro555=)	9509	ADAMTS2	Likely benign	-1	RCV002158122;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567001	178567001	178567001	-
NM_014244.5(ADAMTS2):c.1653C>T (p.Ile551=)	9509	ADAMTS2	Likely benign	-1	RCV001468327;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567013	178567013	178567013	-
NM_014244.5(ADAMTS2):c.1647C>T (p.His549=)	9509	ADAMTS2	Likely benign	-1	RCV001483605;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567019	178567019	178567019	-
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=)	9509	ADAMTS2	Benign/Likely benign	rs61731454	RCV000287537\|RCV001706585\|RCV002278597;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178567022	178567022	NC_000005.9:g.178567022T>C	ClinGen:CA3595815	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1641A>G (p.Lys547=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs776592829	RCV000600761\|RCV002279421\|RCV002531605;	N	MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567025	178567025	5:g.178567025T>C	ClinGen:CA3595816	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1638dup (p.Lys547Ter)	9509	ADAMTS2	Likely pathogenic	rs1554125059	RCV000672050;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567027	178567028	5:g.178567027_178567028insA	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1632T>C (p.His544=)	9509	ADAMTS2	Likely benign	-1	RCV002094305;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567034	178567034	178567034	-
NM_014244.5(ADAMTS2):c.1630-18T>C	9509	ADAMTS2	Benign	rs2303638	RCV000441362\|RCV000587536\|RCV000604542;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567054	178567054	5:g.178567054A>G	ClinGen:CA3595821	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1630-19C>A	9509	ADAMTS2	Likely benign	-1	RCV002204740;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178567055	178567055	178567055	-
NM_014244.5(ADAMTS2):c.1630-46G>A	9509	ADAMTS2	Benign	-1	RCV001543831\|RCV001638143;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178567082	178567082	178567082	-
NM_014244.5(ADAMTS2):c.1629+24G>C	9509	ADAMTS2	Benign	-1	RCV001543832\|RCV001655846;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178579119	178579119	178579119	-
NM_014244.5(ADAMTS2):c.1629+11A>C	9509	ADAMTS2	Likely benign	-1	RCV002640558;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579132	178579132	NC_000005.9:g.178579132T>G	-
NM_014244.5(ADAMTS2):c.1629+9G>A	9509	ADAMTS2	Benign	rs115550684	RCV000377406\|RCV000558463\|RCV001705407\|RCV002278265;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178579134	178579134	5:g.178579134C>T	ClinGen:CA3595845	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1629+6G>A	9509	ADAMTS2	Uncertain significance	rs377268307	RCV001205812;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579137	178579137	5:g.178579137C>T	-
NM_014244.5(ADAMTS2):c.1619C>T (p.Ala540Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002979587;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579153	178579153	NC_000005.9:g.178579153G>A	-
NM_014244.5(ADAMTS2):c.1612_1613del (p.Met538fs)	9509	ADAMTS2	Pathogenic	-1	RCV002872281;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579159	178579160	NC_000005.9:g.178579160_178579161del	-
NM_014244.5(ADAMTS2):c.1611T>G (p.Thr537_Met538=)	9509	ADAMTS2	Likely benign	-1	RCV003029511;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579161	178579161	NC_000005.9:g.178579161A>C	-
NM_014244.5(ADAMTS2):c.1605C>T (p.Asp535=)	9509	ADAMTS2	Likely benign	-1	RCV001419812;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579167	178579167	178579167	-
NM_014244.5(ADAMTS2):c.1602G>A (p.Leu534_Asp535=)	9509	ADAMTS2	Likely benign	-1	RCV003003151;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579170	178579170	NC_000005.9:g.178579170C>T	-
NM_014244.5(ADAMTS2):c.1599C>T (p.Pro533_Leu534=)	9509	ADAMTS2	Likely benign	-1	RCV002858114;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579173	178579173	NC_000005.9:g.178579173G>A	-
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=)	9509	ADAMTS2	Benign	rs766855796	RCV000915680;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579176	178579176	5:g.178579176G>C	-
NM_014244.5(ADAMTS2):c.1590G>A (p.Lys530=)	9509	ADAMTS2	Likely benign	-1	RCV002099994;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579182	178579182	178579182	-
NM_014244.5(ADAMTS2):c.1575T>C (p.Phe525_Cys526=)	9509	ADAMTS2	Likely benign	-1	RCV002620195;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579197	178579197	NC_000005.9:g.178579197A>G	-
NM_014244.5(ADAMTS2):c.1567C>T (p.Pro523Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001754135\|RCV002539848;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579205	178579205	178579205	-
NM_014244.5(ADAMTS2):c.1565A>G (p.Asn522Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV001591440\|RCV001832805;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579207	178579207	178579207	-
NM_014244.5(ADAMTS2):c.1560T>C (p.Pro520=)	9509	ADAMTS2	Likely benign	-1	RCV001417112;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579212	178579212	178579212	-
NM_014244.5(ADAMTS2):c.1545G>A (p.Leu515=)	9509	ADAMTS2	Likely benign	-1	RCV002178366;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579227	178579227	178579227	-
NM_014244.5(ADAMTS2):c.1530C>T (p.Asp510=)	9509	ADAMTS2	Likely benign	-1	RCV001490331;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579242	178579242	178579242	-
NM_014244.5(ADAMTS2):c.1527T>C (p.Phe509=)	9509	ADAMTS2	Likely benign	-1	RCV002093745;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579245	178579245	178579245	-
NM_014244.5(ADAMTS2):c.1524C>A (p.Thr508=)	9509	ADAMTS2	Likely benign	rs778841966	RCV000907298;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579248	178579248	5:g.178579248G>T	-
NM_014244.5(ADAMTS2):c.1523C>A (p.Thr508Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV001931193;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579249	178579249	178579249	-
NM_014244.5(ADAMTS2):c.1520G>A (p.Arg507Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV001582198\|RCV001832818\|RCV002276829\|RCV002592481;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MeSH:D030342,MedGen:C0950123	5	178579252	178579252	178579252	-
NM_014244.5(ADAMTS2):c.1519C>T (p.Arg507Trp)	9509	ADAMTS2	Uncertain significance	-1	RCV001508534\|RCV002564250;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579253	178579253	178579253	-
NM_014244.5(ADAMTS2):c.1516-3C>T	9509	ADAMTS2	Uncertain significance	rs1763376048	RCV001242174;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579259	178579259	5:g.178579259G>A	-
NM_014244.5(ADAMTS2):c.1516-9G>A	9509	ADAMTS2	Likely benign	-1	RCV001490424;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579265	178579265	178579265	-
NM_014244.5(ADAMTS2):c.1516-138A>G	9509	ADAMTS2	Benign	rs11746123	RCV000833939\|RCV001543833;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178579394	178579394	5:g.178579394T>C	-
NM_014244.5(ADAMTS2):c.1515+18C>T	9509	ADAMTS2	Likely benign	-1	RCV002194411;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580474	178580474	178580474	-
NM_014244.5(ADAMTS2):c.1515+10C>G	9509	ADAMTS2	Likely benign	-1	RCV001406559;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580482	178580482	178580482	-
NM_014244.5(ADAMTS2):c.1515+9G>T	9509	ADAMTS2	Likely benign	-1	RCV001480463;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580483	178580483	178580483	-
NM_014244.5(ADAMTS2):c.1513dup (p.Ala505fs)	9509	ADAMTS2	Pathogenic	rs1763406117	RCV001043723;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580493	178580494	5:g.178580493_178580494insC	-
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=)	9509	ADAMTS2	Benign/Likely benign	rs141369064	RCV000876690\|RCV001718948;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178580495	178580495	5:g.178580495C>T	ClinGen:CA3595897	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1512G>C (p.Thr504=)	9509	ADAMTS2	Likely benign	-1	RCV002149202;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580495	178580495	178580495	-
NM_014244.5(ADAMTS2):c.1511C>T (p.Thr504Met)	9509	ADAMTS2	Uncertain significance	rs765595538	RCV000585309\|RCV001348408\|RCV002530862;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178580496	178580496	5:g.178580496G>A	ClinGen:CA3595898	CN517202 not provided;
NM_014244.5(ADAMTS2):c.1501A>G (p.Met501Val)	9509	ADAMTS2	Likely benign	rs757394676	RCV000878375;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580506	178580506	5:g.178580506T>C	-
NM_014244.5(ADAMTS2):c.1500C>T (p.Tyr500=)	9509	ADAMTS2	Likely benign	-1	RCV001441018;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580507	178580507	178580507	-
NM_014244.5(ADAMTS2):c.1492C>T (p.Leu498=)	9509	ADAMTS2	Likely benign	-1	RCV002103189;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580515	178580515	178580515	-
NM_014244.5(ADAMTS2):c.1491C>T (p.Gly497_Leu498=)	9509	ADAMTS2	Likely benign	-1	RCV002862727;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580516	178580516	NC_000005.9:g.178580516G>A	-
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)	9509	ADAMTS2	Benign/Likely benign	rs147438064	RCV000513083\|RCV001079809\|RCV002278675\|RCV002282141;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MedGen:CN169374	5	178580519	178580519	5:g.178580519G>A	ClinGen:CA3595902	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1478G>A (p.Arg493His)	9509	ADAMTS2	Uncertain significance	-1	RCV001891425;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580529	178580529	178580529	-
NM_014244.5(ADAMTS2):c.1477C>T (p.Arg493Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV001794586\|RCV002541271;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580530	178580530	178580530	-
NM_014244.5(ADAMTS2):c.1476C>A (p.Cys492Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003005979;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580531	178580531	NC_000005.9:g.178580531G>T	-
NM_014244.5(ADAMTS2):c.1470G>A (p.Glu490=)	9509	ADAMTS2	Likely benign	-1	RCV001491729;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580537	178580537	178580537	-
NM_014244.5(ADAMTS2):c.1467C>T (p.Asn489=)	9509	ADAMTS2	Likely benign	rs111893309	RCV000888124;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580540	178580540	5:g.178580540G>A	-
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)	9509	ADAMTS2	Benign/Likely benign	rs61757478	RCV000347202\|RCV000431781\|RCV001171974\|RCV002278598;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178580549	178580549	NC_000005.9:g.178580549G>A	ClinGen:CA3595910	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1452G>A (p.Leu484=)	9509	ADAMTS2	Likely benign	-1	RCV002218486;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580555	178580555	178580555	-
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs147259971	RCV000401426\|RCV000609541;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178580576	178580576	NC_000005.9:g.178580576C>T	ClinGen:CA3595914	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1430C>T (p.Ala477Val)	9509	ADAMTS2	Uncertain significance	rs370614125	RCV000483825\|RCV001233233;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580577	178580577	5:g.178580577G>A	ClinGen:CA3595915	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs374288519	RCV001156859\|RCV002264207;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178580579	178580579	5:g.178580579C>T	-
NM_014244.5(ADAMTS2):c.1427C>T (p.Pro476Leu)	9509	ADAMTS2	Uncertain significance	rs762123346	RCV000544578;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580580	178580580	5:g.178580580G>A	ClinGen:CA3595917	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1420G>A (p.Asp474Asn)	9509	ADAMTS2	Uncertain significance	rs750225306	RCV001067456;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580587	178580587	5:g.178580587C>T	-
NM_014244.5(ADAMTS2):c.1419C>T (p.His473=)	9509	ADAMTS2	Likely benign	-1	RCV001471044;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580588	178580588	178580588	-
NM_014244.5(ADAMTS2):c.1414G>A (p.Ala472Thr)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs546681307	RCV000946178\|RCV001092142;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178580593	178580593	5:g.178580593C>T	-
NM_014244.5(ADAMTS2):c.1413C>T (p.Phe471=)	9509	ADAMTS2	Likely benign	rs751565994	RCV000943906\|RCV001274594;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580594	178580594	5:g.178580594G>A	-
NM_014244.5(ADAMTS2):c.1410C>G (p.Pro470_Phe471=)	9509	ADAMTS2	Likely benign	-1	RCV002837702;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580597	178580597	NC_000005.9:g.178580597G>C	-
NM_014244.5(ADAMTS2):c.1407C>T (p.Asp469=)	9509	ADAMTS2	Likely benign	-1	RCV002203227;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580600	178580600	178580600	-
NM_014244.5(ADAMTS2):c.1407C>A (p.Asp469Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV002576738;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580600	178580600	NC_000005.9:g.178580600G>T	-
NM_014244.5(ADAMTS2):c.1398G>C (p.Leu466=)	9509	ADAMTS2	Likely benign	-1	RCV001455234;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580609	178580609	178580609	-
NM_014244.5(ADAMTS2):c.1396C>T (p.Leu466_Leu467=)	9509	ADAMTS2	Likely benign	-1	RCV003076783;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580611	178580611	NC_000005.9:g.178580611G>A	-
NM_014244.5(ADAMTS2):c.1389T>C (p.Tyr463_Asp464=)	9509	ADAMTS2	Likely benign	-1	RCV002579142;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580618	178580618	NC_000005.9:g.178580618A>G	-
NM_014244.5(ADAMTS2):c.1383-2A>G	9509	ADAMTS2	Likely pathogenic	rs1336175305	RCV001043591;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580626	178580626	5:g.178580626T>C	-
NM_014244.5(ADAMTS2):c.1383-3C>A	9509	ADAMTS2	Uncertain significance	rs1554126056	RCV000529661;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580627	178580627	NC_000005.9:g.178580627G>T	ClinGen:CA658657572	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1383-4A>G	9509	ADAMTS2	Likely benign	-1	RCV003061396;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580628	178580628	NC_000005.9:g.178580628T>C	-
NM_014244.5(ADAMTS2):c.1383-5dup	9509	ADAMTS2	Benign	-1	RCV002766669;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580628	178580629	NC_000005.9:g.178580633dup	-
NM_014244.5(ADAMTS2):c.1383-5C>G	9509	ADAMTS2	Likely benign	rs1447276433	RCV000980348;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580629	178580629	5:g.178580629G>C	-
NM_014244.5(ADAMTS2):c.1383-6C>G	9509	ADAMTS2	Likely benign	-1	RCV003092438;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580630	178580630	NC_000005.9:g.178580630G>C	-
NM_014244.5(ADAMTS2):c.1383-7C>G	9509	ADAMTS2	Likely benign	-1	RCV002942828;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580631	178580631	NC_000005.9:g.178580631G>C	-
NM_014244.5(ADAMTS2):c.1383-8C>T	9509	ADAMTS2	Likely benign	-1	RCV001419040;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580632	178580632	178580632	-
NM_014244.5(ADAMTS2):c.1383-8C>G	9509	ADAMTS2	Likely benign	-1	RCV001434047;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580632	178580632	178580632	-
NM_014244.5(ADAMTS2):c.1383-15G>A	9509	ADAMTS2	Likely benign	rs373540125	RCV000607525\|RCV002063294;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580639	178580639	5:g.178580639C>T	ClinGen:CA3595930	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1383-16C>T	9509	ADAMTS2	Benign/Likely benign	rs377462612	RCV000615235\|RCV002063273;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580640	178580640	5:g.178580640G>A	ClinGen:CA3595931	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1383-22C>T	9509	ADAMTS2	Benign	rs115740207	RCV000833908\|RCV001543834;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178580646	178580646	5:g.178580646G>A	-
NM_014244.5(ADAMTS2):c.1378C>T (p.Leu460=)	9509	ADAMTS2	Likely benign	-1	RCV002121332;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581054	178581054	178581054	-
NM_014244.5(ADAMTS2):c.1377C>T (p.Tyr459=)	9509	ADAMTS2	Likely benign	-1	RCV001444872;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581055	178581055	178581055	-
NM_014244.5(ADAMTS2):c.1377C>A (p.Tyr459Ter)	9509	ADAMTS2	Likely pathogenic	-1	RCV002309274;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581055	178581055	178581055	-
NM_014244.5(ADAMTS2):c.1375T>C (p.Tyr459His)	9509	ADAMTS2	Uncertain significance	rs1330093880	RCV001038943;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581057	178581057	5:g.178581057A>G	-
NM_014244.5(ADAMTS2):c.1373G>A (p.Arg458His)	9509	ADAMTS2	Uncertain significance	rs768230986	RCV000436072\|RCV001833566;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581059	178581059	5:g.178581059C>T	ClinGen:CA3595955	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1368G>A (p.Leu456_Ser457=)	9509	ADAMTS2	Likely benign	-1	RCV003067341;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581064	178581064	NC_000005.9:g.178581064C>T	-
NM_014244.5(ADAMTS2):c.1362G>A (p.Gln454=)	9509	ADAMTS2	Likely benign	-1	RCV001430187;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581070	178581070	178581070	-
NM_014244.5(ADAMTS2):c.1360C>T (p.Gln454Ter)	9509	ADAMTS2	Pathogenic	-1	RCV002876319;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581072	178581072	NC_000005.9:g.178581072G>A	-
NM_014244.5(ADAMTS2):c.1356C>T (p.Ser452=)	9509	ADAMTS2	Likely benign	-1	RCV001401297;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581076	178581076	178581076	-
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His)	9509	ADAMTS2	Uncertain significance	rs752634323	RCV001156860;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581083	178581083	5:g.178581083C>T	-
NM_014244.5(ADAMTS2):c.1343G>C (p.Trp448Ser)	9509	ADAMTS2	Uncertain significance	rs1763419118	RCV001206974;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581089	178581089	5:g.178581089C>G	-
NM_014244.5(ADAMTS2):c.1340A>G (p.His447Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002899713\|RCV002899712;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178581092	178581092	NC_000005.9:g.178581092T>C	-
NM_014244.5(ADAMTS2):c.1334G>A (p.Arg445His)	9509	ADAMTS2	Uncertain significance	-1	RCV002606866;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581098	178581098	NC_000005.9:g.178581098C>T	-
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp)	9509	ADAMTS2	Uncertain significance	rs1763419619	RCV001156861;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581107	178581107	5:g.178581107G>T	-
NM_014244.5(ADAMTS2):c.1323C>T (p.Ala441=)	9509	ADAMTS2	Likely benign	-1	RCV001464029;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581109	178581109	178581109	-
NM_014244.5(ADAMTS2):c.1320_1321insTATAAGAGACAGT (p.Ala441fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002310154;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581111	178581112	178581111	-
NM_014244.5(ADAMTS2):c.1319A>G (p.Gln440Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002721598\|RCV002745631;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178581113	178581113	NC_000005.9:g.178581113T>C	-
NM_014244.5(ADAMTS2):c.1318C>T (p.Gln440Ter)	9509	ADAMTS2	Likely pathogenic	-1	RCV002310375;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581114	178581114	178581114	-
NM_014244.5(ADAMTS2):c.1315del (p.Val439fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002308426;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581117	178581117	178581116	-
NM_014244.5(ADAMTS2):c.1311C>T (p.Pro437=)	9509	ADAMTS2	Likely benign	-1	RCV002154102;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581121	178581121	178581121	-
NM_014244.5(ADAMTS2):c.1311C>A (p.Pro437=)	9509	ADAMTS2	Likely benign	-1	RCV002124132;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581121	178581121	178581121	-
NM_014244.5(ADAMTS2):c.1309C>A (p.Pro437Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV001978075;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581123	178581123	178581123	-
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)	9509	ADAMTS2	Benign/Likely benign	rs41285549	RCV000284871\|RCV000425101\|RCV001171975\|RCV002278599;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178581124	178581124	NC_000005.9:g.178581124C>T	ClinGen:CA3595968	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs41285549	RCV000840706\|RCV001156862;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581124	178581124	5:g.178581124C>G	-
NM_014244.5(ADAMTS2):c.1308G>T (p.Ala436_Pro437=)	9509	ADAMTS2	Likely benign	-1	RCV002810767;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581124	178581124	NC_000005.9:g.178581124C>A	-
NM_014244.5(ADAMTS2):c.1293G>A (p.Leu431=)	9509	ADAMTS2	Likely benign	-1	RCV002158056;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581139	178581139	178581139	-
NM_014244.5(ADAMTS2):c.1291C>T (p.Leu431=)	9509	ADAMTS2	Likely benign	-1	RCV002126259;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581141	178581141	178581141	-
NM_014244.5(ADAMTS2):c.1289G>A (p.Arg430Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002922466;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581143	178581143	NC_000005.9:g.178581143C>T	-
NM_014244.5(ADAMTS2):c.1288C>T (p.Arg430Trp)	9509	ADAMTS2	Uncertain significance	rs761498949	RCV001331834;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581144	178581144	178581144	-
NM_014244.5(ADAMTS2):c.1282G>A (p.Glu428Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV002937132;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581150	178581150	NC_000005.9:g.178581150C>T	-
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=)	9509	ADAMTS2	Benign	rs34424371	RCV000180313\|RCV000339857;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581151	178581151	5:g.178581151G>A	ClinGen:CA203648	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1279G>A (p.Asp427Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV003064547;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581153	178581153	NC_000005.9:g.178581153C>T	-
NM_014244.5(ADAMTS2):c.1278C>T (p.Gly426=)	9509	ADAMTS2	Uncertain significance	rs746088783	RCV000530597;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581154	178581154	NC_000005.9:g.178581154G>A	ClinGen:CA3595973	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1271G>A (p.Arg424His)	9509	ADAMTS2	Uncertain significance	-1	RCV002605280;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581161	178581161	NC_000005.9:g.178581161C>T	-
NM_014244.5(ADAMTS2):c.1270C>T (p.Arg424Cys)	9509	ADAMTS2	Uncertain significance	-1	RCV001905983;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581162	178581162	178581162	-
NM_014244.5(ADAMTS2):c.1264G>A (p.Gly422Ser)	9509	ADAMTS2	Uncertain significance	rs200813745	RCV000811944;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581168	178581168	5:g.178581168C>T	-
NM_014244.5(ADAMTS2):c.1260G>A (p.Gly420=)	9509	ADAMTS2	Likely benign	-1	RCV001503291;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581172	178581172	178581172	-
NM_014244.5(ADAMTS2):c.1257C>T (p.Asp419=)	9509	ADAMTS2	Likely benign	-1	RCV002180145;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581175	178581175	178581175	-
NM_014244.5(ADAMTS2):c.1254C>T (p.His418=)	9509	ADAMTS2	Likely benign	rs758041605	RCV000552162;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581178	178581178	NC_000005.9:g.178581178G>A	ClinGen:CA3595982	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1245C>G (p.Gly415_Met416=)	9509	ADAMTS2	Likely benign	-1	RCV002861251;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581187	178581187	NC_000005.9:g.178581187G>C	-
NM_014244.5(ADAMTS2):c.1239-4G>A	9509	ADAMTS2	Likely benign	rs922294987	RCV000608903\|RCV001463964;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581197	178581197	5:g.178581197C>T	ClinGen:CA133050781	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1239-5C>T	9509	ADAMTS2	Likely benign	rs767804420	RCV000940404;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581198	178581198	5:g.178581198G>A	-
NM_014244.5(ADAMTS2):c.1239-16G>A	9509	ADAMTS2	Likely benign	-1	RCV001883272;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581209	178581209	178581209	-
NM_014244.5(ADAMTS2):c.1238+18G>A	9509	ADAMTS2	Benign	rs2278222	RCV000327648\|RCV000590412\|RCV000611691;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581797	178581797	5:g.178581797C>T	ClinGen:CA3596001	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1238+15G>T	9509	ADAMTS2	Uncertain significance	-1	RCV001921972;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581800	178581800	178581800	-
NM_014244.5(ADAMTS2):c.1238+10del	9509	ADAMTS2	Likely benign	-1	RCV003109137;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581805	178581805	NC_000005.9:g.178581806del	-
NM_014244.5(ADAMTS2):c.1236C>T (p.His412=)	9509	ADAMTS2	Likely benign	-1	RCV001415362;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581817	178581817	178581817	-
NM_014244.5(ADAMTS2):c.1210T>C (p.Phe404Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001889345;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581843	178581843	178581843	-
NM_014244.5(ADAMTS2):c.1209G>A (p.Ala403=)	9509	ADAMTS2	Likely benign	-1	RCV001396718\|RCV001530991;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178581844	178581844	178581844	-
NM_014244.5(ADAMTS2):c.1208C>T (p.Ala403Val)	9509	ADAMTS2	Uncertain significance	rs756455382	RCV000646232;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581845	178581845	NC_000005.9:g.178581845G>A	ClinGen:CA3596007	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1206A>G (p.Ser402=)	9509	ADAMTS2	Likely benign	-1	RCV001409287;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581847	178581847	178581847	-
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=)	9509	ADAMTS2	Benign	rs2278221	RCV000265344\|RCV000400563\|RCV000588406;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178581859	178581859	5:g.178581859G>A	ClinGen:CA3596009	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1185C>T (p.Asn395=)	9509	ADAMTS2	Likely benign	-1	RCV001395886;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581868	178581868	178581868	-
NM_014244.5(ADAMTS2):c.1175del (p.Cys392fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002306721;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581878	178581878	178581877	-
NM_014244.5(ADAMTS2):c.1169G>A (p.Arg390His)	9509	ADAMTS2	Uncertain significance	-1	RCV001988152;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581884	178581884	178581884	-
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs141348218	RCV000304706\|RCV000600952;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178581889	178581889	NC_000005.9:g.178581889C>T	ClinGen:CA3596014	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1163C>T (p.Pro388Leu)	9509	ADAMTS2	Uncertain significance	rs762460815	RCV000821915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581890	178581890	5:g.178581890G>A	-
NM_014244.5(ADAMTS2):c.1161T>C (p.His387=)	9509	ADAMTS2	Likely benign	-1	RCV002107494;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581892	178581892	178581892	-
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs199664723	RCV000542113\|RCV001171976;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178581904	178581904	5:g.178581904G>A	ClinGen:CA3596019	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1149C>G (p.Thr383=)	9509	ADAMTS2	Likely benign	-1	RCV002072377;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581904	178581904	178581904	-
NM_014244.5(ADAMTS2):c.1137T>A (p.Tyr379Ter)	9509	ADAMTS2	Likely pathogenic	-1	RCV002309481;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581916	178581916	178581916	-
NM_014244.5(ADAMTS2):c.1136A>T (p.Tyr379Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV002839052;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581917	178581917	NC_000005.9:g.178581917T>A	-
NM_014244.5(ADAMTS2):c.1134C>T (p.Gly378_Tyr379=)	9509	ADAMTS2	Likely benign	-1	RCV002815630;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581919	178581919	NC_000005.9:g.178581919G>A	-
NM_014244.5(ADAMTS2):c.1133-5C>A	9509	ADAMTS2	Likely benign	-1	RCV002851574;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581925	178581925	NC_000005.9:g.178581925G>T	-
NM_014244.5(ADAMTS2):c.1133-8C>T	9509	ADAMTS2	Likely benign	-1	RCV002155069;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581928	178581928	178581928	-
NM_014244.5(ADAMTS2):c.1133-10C>T	9509	ADAMTS2	Likely benign	rs934418118	RCV000928739\|RCV001435052;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581930	178581930	5:g.178581930G>A	-
NM_014244.5(ADAMTS2):c.1133-12G>A	9509	ADAMTS2	Likely benign	-1	RCV002127016;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581932	178581932	178581932	-
NM_014244.5(ADAMTS2):c.1133-19G>A	9509	ADAMTS2	Likely benign	-1	RCV002148259;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178581939	178581939	178581939	-
NM_014244.5(ADAMTS2):c.1133-57C>T	9509	ADAMTS2	Benign	-1	RCV001543835\|RCV001673168;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178581977	178581977	178581977	-
NM_014244.5(ADAMTS2):c.1132+135G>A	9509	ADAMTS2	Benign	-1	RCV001543836\|RCV001720309;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178585589	178585589	178585589	-
NM_014244.5(ADAMTS2):c.1132+11C>T	9509	ADAMTS2	Likely benign	-1	RCV002100085;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585713	178585713	178585713	-
NM_014244.5(ADAMTS2):c.1132+9C>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	-1	RCV001986897\|RCV002276977;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178585715	178585715	178585715	-
NM_014244.5(ADAMTS2):c.1132+7C>G	9509	ADAMTS2	Likely benign	-1	RCV002894707;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585717	178585717	NC_000005.9:g.178585717G>C	-
NM_014244.5(ADAMTS2):c.1132+6C>T	9509	ADAMTS2	Uncertain significance	-1	RCV003091915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585718	178585718	NC_000005.9:g.178585718G>A	-
NM_014244.5(ADAMTS2):c.1132+5G>A	9509	ADAMTS2	Uncertain significance	-1	RCV001888972;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585719	178585719	178585719	-
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser)	9509	ADAMTS2	Uncertain significance	rs886060494	RCV000354892;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585733	178585733	NC_000005.9:g.178585733C>T	ClinGen:CA10621520	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs145109914	RCV000724822\|RCV001084957;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585734	178585734	5:g.178585734G>A	ClinGen:CA246737	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1110C>T (p.Asp370_Phe371=)	9509	ADAMTS2	Likely benign	-1	RCV002701017;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585746	178585746	NC_000005.9:g.178585746G>A	-
NM_014244.5(ADAMTS2):c.1102C>T (p.Arg368Trp)	9509	ADAMTS2	Uncertain significance	-1	RCV002045915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585754	178585754	178585754	-
NM_014244.5(ADAMTS2):c.1098C>T (p.Leu366=)	9509	ADAMTS2	Likely benign	-1	RCV001417581;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585758	178585758	178585758	-
NM_014244.5(ADAMTS2):c.1087G>A (p.Ala363Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV003071185;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585769	178585769	NC_000005.9:g.178585769C>T	-
NM_014244.5(ADAMTS2):c.1086C>T (p.His362=)	9509	ADAMTS2	Likely benign	-1	RCV002093270;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585770	178585770	178585770	-
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs150079799	RCV000876531\|RCV001698197\|RCV002279207;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178585773	178585773	5:g.178585773A>G	ClinGen:CA3596046	CN169374 not specified;
NM_014244.5(ADAMTS2):c.1080C>T (p.His360=)	9509	ADAMTS2	Likely benign	rs777406209	RCV000937637\|RCV001395392;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585776	178585776	5:g.178585776G>A	-
NM_014244.5(ADAMTS2):c.1077C>T (p.Tyr359_His360=)	9509	ADAMTS2	Likely benign	-1	RCV002663575;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585779	178585779	NC_000005.9:g.178585779G>A	-
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn)	9509	ADAMTS2	Uncertain significance	rs763890617	RCV000391334;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585787	178585787	NC_000005.9:g.178585787C>T	ClinGen:CA3596050	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1068C>T (p.His356=)	9509	ADAMTS2	Likely benign	-1	RCV001406915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585788	178585788	178585788	-
NM_014244.5(ADAMTS2):c.1062G>A (p.Thr354=)	9509	ADAMTS2	Likely benign	-1	RCV001446989;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585794	178585794	178585794	-
NM_014244.5(ADAMTS2):c.1057G>A (p.Asp353Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV001770916\|RCV002540291;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585799	178585799	178585799	-
NM_014244.5(ADAMTS2):c.1049A>G (p.Gln350Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002027222;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585807	178585807	178585807	-
NM_014244.5(ADAMTS2):c.1043T>A (p.Leu348His)	9509	ADAMTS2	Uncertain significance	-1	RCV001997980;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585813	178585813	178585813	-
NM_014244.5(ADAMTS2):c.1034G>A (p.Trp345Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003014732;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585822	178585822	NC_000005.9:g.178585822C>T	-
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His)	9509	ADAMTS2	Uncertain significance	rs201162234	RCV001154461;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585825	178585825	5:g.178585825C>T	-
NM_014244.5(ADAMTS2):c.1030C>T (p.Arg344Cys)	9509	ADAMTS2	Uncertain significance	rs751283120	RCV000703604\|RCV001508535;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178585826	178585826	NC_000005.9:g.178585826G>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.1029C>T (p.Cys343=)	9509	ADAMTS2	Likely benign	-1	RCV002205227;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585827	178585827	178585827	-
NM_014244.5(ADAMTS2):c.1026C>G (p.Val342=)	9509	ADAMTS2	Likely benign	-1	RCV002183719;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585830	178585830	178585830	-
NM_014244.5(ADAMTS2):c.1020G>A (p.Glu340=)	9509	ADAMTS2	Likely benign	-1	RCV001450944;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585836	178585836	178585836	-
NM_014244.5(ADAMTS2):c.1008T>C (p.Ser336=)	9509	ADAMTS2	Likely benign	rs1581160048	RCV000979748\|RCV001434618;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585848	178585848	5:g.178585848A>G	-
NM_014244.5(ADAMTS2):c.1002C>T (p.Asn334=)	9509	ADAMTS2	Likely benign	-1	RCV002087894;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585854	178585854	178585854	-
NM_014244.5(ADAMTS2):c.999G>A (p.Gly333=)	9509	ADAMTS2	Likely benign	-1	RCV001467144;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585857	178585857	178585857	-
NM_014244.5(ADAMTS2):c.997G>A (p.Gly333Arg)	9509	ADAMTS2	Uncertain significance	rs483352736	RCV000087221\|RCV001248749;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585859	178585859	5:g.178585859C>T	ClinGen:CA229144	CN517202 not provided;
NM_014244.5(ADAMTS2):c.996C>T (p.Ile332=)	9509	ADAMTS2	Likely benign	rs767485549	RCV001278374;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585860	178585860	5:g.178585860G>A	-
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys)	9509	ADAMTS2	Uncertain significance	rs17667857	RCV000301183\|RCV000498059\|RCV002523517;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	178585865	178585865	NC_000005.9:g.178585865C>T	ClinGen:CA3596062,UniProtKB:O95450#VAR_047929	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.990C>T (p.Ile330=)	9509	ADAMTS2	Likely benign	rs543342610	RCV000976467;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585866	178585866	5:g.178585866G>A	-
NM_014244.5(ADAMTS2):c.985_986insA (p.Leu329fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002310067;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585870	178585871	178585870	-
NM_014244.5(ADAMTS2):c.984C>T (p.Ser328=)	9509	ADAMTS2	Likely benign	-1	RCV001471007\|RCV001581151;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178585872	178585872	178585872	-
NG_023212.2:g.(6563_77264)_(169258_191449)del	9509	ADAMTS2	Pathogenic	-1	RCV000005839;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585881	178770767		dbVar:nssv7487182,OMIM:604539.0003	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.976-6C>T	9509	ADAMTS2	Likely benign	-1	RCV003090621;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585886	178585886	NC_000005.9:g.178585886G>A	-
NM_014244.5(ADAMTS2):c.976-8C>T	9509	ADAMTS2	Likely benign	-1	RCV002103698;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585888	178585888	178585888	-
NM_014244.5(ADAMTS2):c.976-10C>A	9509	ADAMTS2	Likely benign	rs973000351	RCV001278375;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178585890	178585890	5:g.178585890G>T	-
NM_014244.5(ADAMTS2):c.975+151T>A	9509	ADAMTS2	Benign	-1	RCV001543837\|RCV001655847;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178607922	178607922	178607922	-
NM_014244.5(ADAMTS2):c.975+9A>G	9509	ADAMTS2	Likely benign	rs1581171879	RCV000944304\|RCV001499327;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608064	178608064	5:g.178608064T>C	-
NM_014244.5(ADAMTS2):c.975+8C>T	9509	ADAMTS2	Likely benign	rs369740542	RCV001278376;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608065	178608065	5:g.178608065G>A	-
NM_014244.5(ADAMTS2):c.969T>C (p.Tyr323=)	9509	ADAMTS2	Likely benign	-1	RCV001432822;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608079	178608079	178608079	-
NM_014244.5(ADAMTS2):c.966C>T (p.Ser322=)	9509	ADAMTS2	Likely benign	-1	RCV002093185;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608082	178608082	178608082	-
NM_014244.5(ADAMTS2):c.961C>T (p.Leu321_Ser322=)	9509	ADAMTS2	Likely benign	-1	RCV003007678;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608087	178608087	NC_000005.9:g.178608087G>A	-
NM_014244.5(ADAMTS2):c.960C>T (p.Leu320=)	9509	ADAMTS2	Likely benign	-1	RCV001470602;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608088	178608088	178608088	-
NM_014244.5(ADAMTS2):c.950G>A (p.Arg317Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002621454;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608098	178608098	NC_000005.9:g.178608098C>T	-
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=)	9509	ADAMTS2	Benign	rs35462609	RCV000355818\|RCV000424854\|RCV002278600;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178608112	178608112	NC_000005.9:g.178608112G>A	ClinGen:CA3596096	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.935A>G (p.Asn312Ser)	9509	ADAMTS2	Uncertain significance	rs528367185	RCV000414470\|RCV000694531\|RCV002278646\|RCV002523944;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MeSH:D030342,MedGen:C0950123	5	178608113	178608113	5:g.178608113T>C	ClinGen:CA3596097	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.930C>T (p.His310=)	9509	ADAMTS2	Likely benign	-1	RCV002141181;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608118	178608118	178608118	-
NM_014244.5(ADAMTS2):c.928del (p.His310fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002308385;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608120	178608120	178608119	-
NM_014244.5(ADAMTS2):c.927C>T (p.Ala309=)	9509	ADAMTS2	Likely benign	rs143588140	RCV000944367\|RCV001395417;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608121	178608121	5:g.178608121G>A	-
NM_014244.5(ADAMTS2):c.926C>T (p.Ala309Val)	9509	ADAMTS2	Uncertain significance	rs1253197089	RCV001278377;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608122	178608122	5:g.178608122G>A	-
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1764038673	RCV001154462;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608129	178608129	5:g.178608129A>G	-
NM_014244.5(ADAMTS2):c.918C>G (p.Ser306=)	9509	ADAMTS2	Likely benign	-1	RCV001443731;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608130	178608130	178608130	-
NM_014244.5(ADAMTS2):c.918C>T (p.Ser306=)	9509	ADAMTS2	Likely benign	-1	RCV001460709;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608130	178608130	178608130	-
NM_014244.5(ADAMTS2):c.912C>T (p.Asp304=)	9509	ADAMTS2	Likely benign	-1	RCV001463047;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608136	178608136	178608136	-
NM_014244.5(ADAMTS2):c.896A>G (p.Asn299Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002746602;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608152	178608152	NC_000005.9:g.178608152T>C	-
NM_014244.5(ADAMTS2):c.894C>T (p.Val298=)	9509	ADAMTS2	Likely benign	-1	RCV001436768;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178608154	178608154	178608154	-
NM_014244.5(ADAMTS2):c.891+19G>A	9509	ADAMTS2	Likely benign	-1	RCV002913150;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634495	178634495	NC_000005.9:g.178634495C>T	-
NM_014244.5(ADAMTS2):c.891+13G>A	9509	ADAMTS2	Likely benign	-1	RCV003081654;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634501	178634501	NC_000005.9:g.178634501C>T	-
NM_014244.5(ADAMTS2):c.891+10del	9509	ADAMTS2	Benign	-1	RCV002149166;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634504	178634504	178634503	-
NC_000005.9:g.(?_178634504)_(178634726_?)del	9509	ADAMTS2	Pathogenic	-1	RCV003116713;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634504	178634726		-
NM_014244.5(ADAMTS2):c.891+9G>A	9509	ADAMTS2	Likely benign	rs749508251	RCV000945451;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634505	178634505	5:g.178634505C>T	-
NM_014244.5(ADAMTS2):c.891+8G>A	9509	ADAMTS2	Likely benign	-1	RCV002805318;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634506	178634506	NC_000005.9:g.178634506C>T	-
NM_014244.5(ADAMTS2):c.891+7G>T	9509	ADAMTS2	Likely benign	-1	RCV002154654;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634507	178634507	178634507	-
NM_014244.5(ADAMTS2):c.876G>A (p.Leu292=)	9509	ADAMTS2	Likely benign	-1	RCV002165517;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634529	178634529	178634529	-
NM_014244.5(ADAMTS2):c.867G>A (p.Lys289=)	9509	ADAMTS2	Likely benign	rs1191391499	RCV000611222\|RCV001487078;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634538	178634538	5:g.178634538C>T	ClinGen:CA448034883	CN169374 not specified;
NM_014244.5(ADAMTS2):c.863A>C (p.Gln288Pro)	9509	ADAMTS2	Uncertain significance	-1	RCV002043110;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634542	178634542	178634542	-
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile)	9509	ADAMTS2	Uncertain significance	rs148737005	RCV000646237;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634546	178634546	5:g.178634546C>T	ClinGen:CA3596143	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.858_859delinsTA (p.Val287Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV003060261;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634546	178634547	NC_000005.9:g.178634546_178634547delinsTA	-
NM_014244.5(ADAMTS2):c.858C>T (p.His286=)	9509	ADAMTS2	Benign	rs66565583	RCV000275137\|RCV000424700;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178634547	178634547	NC_000005.9:g.178634547G>A	ClinGen:CA3596144	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.855G>A (p.Glu285=)	9509	ADAMTS2	Likely benign	-1	RCV002166505;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634550	178634550	178634550	-
NM_014244.5(ADAMTS2):c.848G>A (p.Gly283Glu)	9509	ADAMTS2	Uncertain significance	rs760325496	RCV001039093;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634557	178634557	5:g.178634557C>T	-
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg)	9509	ADAMTS2	Uncertain significance	rs376856341	RCV000497894\|RCV000795669;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634558	178634558	NC_000005.9:g.178634558C>T	ClinGen:CA3596146	CN169374 not specified;
NM_014244.5(ADAMTS2):c.846C>T (p.His282=)	9509	ADAMTS2	Likely benign	-1	RCV001464910;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634559	178634559	178634559	-
NM_014244.5(ADAMTS2):c.842dup (p.His282fs)	9509	ADAMTS2	Pathogenic	rs1764730959	RCV001224756;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634562	178634563	5:g.178634562_178634563insA	-
NM_014244.5(ADAMTS2):c.840G>A (p.Gln280_Phe281=)	9509	ADAMTS2	Likely benign	-1	RCV002780984;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634565	178634565	NC_000005.9:g.178634565C>T	-
NM_014244.5(ADAMTS2):c.836T>C (p.Val279Ala)	9509	ADAMTS2	Uncertain significance	-1	RCV002576679;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634569	178634569	NC_000005.9:g.178634569A>G	-
NM_014244.5(ADAMTS2):c.832G>A (p.Val278Met)	9509	ADAMTS2	Uncertain significance	rs1764731152	RCV001296643;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634573	178634573	178634573	-
NM_014244.5(ADAMTS2):c.825T>C (p.Asp275=)	9509	ADAMTS2	Likely benign	-1	RCV001443205;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634580	178634580	178634580	-
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs751895494	RCV001154463\|RCV002276646;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634586	178634586	5:g.178634586G>A	-
NM_014244.5(ADAMTS2):c.816G>A (p.Leu272=)	9509	ADAMTS2	Likely benign	-1	RCV002213260;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634589	178634589	178634589	-
NM_014244.5(ADAMTS2):c.814C>T (p.Leu272=)	9509	ADAMTS2	Likely benign	rs531768193	RCV000937786;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634591	178634591	5:g.178634591G>A	-
NM_014244.5(ADAMTS2):c.804C>T (p.Ile268=)	9509	ADAMTS2	Likely benign	-1	RCV002157747;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634601	178634601	178634601	-
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs139249329	RCV000839945\|RCV001084735;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634607	178634607	5:g.178634607G>A	-
NM_014244.5(ADAMTS2):c.795C>T (p.Asp265_Tyr266=)	9509	ADAMTS2	Likely benign	-1	RCV002650911;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634610	178634610	NC_000005.9:g.178634610G>A	-
NM_014244.5(ADAMTS2):c.790G>A (p.Asp264Asn)	9509	ADAMTS2	Uncertain significance	rs374717566	RCV000792686\|RCV001552500\|RCV002536947;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	178634615	178634615	5:g.178634615C>T	-
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=)	9509	ADAMTS2	Benign/Likely benign	rs144235544	RCV000915549\|RCV001704742;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178634616	178634616	5:g.178634616G>A	ClinGen:CA3596159	CN169374 not specified;
NM_014244.5(ADAMTS2):c.789C>G (p.Asp263Glu)	9509	ADAMTS2	Uncertain significance	rs144235544	RCV001210597;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634616	178634616	5:g.178634616G>C	-
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=)	9509	ADAMTS2	Benign	rs423552	RCV000330251\|RCV000435641\|RCV000589419;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MedGen:CN517202	5	178634619	178634619	NC_000005.9:g.178634619C>T	ClinGen:CA3596160	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr)	9509	ADAMTS2	Uncertain significance	rs376820857	RCV000370921\|RCV000513435;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178634621	178634621	NC_000005.9:g.178634621C>T	ClinGen:CA3596161	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.783T>C (p.Ala261=)	9509	ADAMTS2	Likely benign	-1	RCV001473127;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634622	178634622	178634622	-
NM_014244.5(ADAMTS2):c.773G>A (p.Arg258His)	9509	ADAMTS2	Uncertain significance	rs1057524562	RCV000425726\|RCV001828450;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634632	178634632	5:g.178634632C>T	ClinGen:CA16604885	CN169374 not specified;
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)	9509	ADAMTS2	Likely benign	-1	RCV001441281;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634635	178634635	178634635	-
NM_014244.5(ADAMTS2):c.770C>T (p.Ala257Val)	9509	ADAMTS2	Uncertain significance	-1	RCV001935696;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634635	178634635	178634635	-
NM_014244.5(ADAMTS2):c.768G>A (p.Arg256=)	9509	ADAMTS2	Likely benign	-1	RCV001445835;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634637	178634637	178634637	-
NM_014244.5(ADAMTS2):c.767G>A (p.Arg256Lys)	9509	ADAMTS2	Uncertain significance	rs1764733855	RCV001241096;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634638	178634638	5:g.178634638C>T	-
NM_014244.5(ADAMTS2):c.765G>T (p.Arg255=)	9509	ADAMTS2	Likely benign	-1	RCV001442217;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634640	178634640	178634640	-
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)	9509	ADAMTS2	Benign/Likely benign	rs117222015	RCV000270240\|RCV001310892\|RCV002278601;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634641	178634641	NC_000005.9:g.178634641C>T	ClinGen:CA3596168	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.763C>A (p.Arg255=)	9509	ADAMTS2	Likely benign	-1	RCV001472082;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634642	178634642	178634642	-
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs753246905	RCV000969583;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634643	178634643	5:g.178634643C>T	-
NM_014244.5(ADAMTS2):c.759G>A (p.Ser253=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs374180760	RCV000878878\|RCV001697973\|RCV002279412;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634646	178634646	5:g.178634646C>T	ClinGen:CA3596171	CN169374 not specified;
NM_014244.5(ADAMTS2):c.758C>T (p.Ser253Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV002015719;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634647	178634647	178634647	-
NM_014244.5(ADAMTS2):c.750C>T (p.Ala250=)	9509	ADAMTS2	Likely benign	-1	RCV001472255;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634655	178634655	178634655	-
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs143764421	RCV000325268\|RCV000585584\|RCV002278602;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634657	178634657	NC_000005.9:g.178634657C>T	ClinGen:CA3596177	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.747C>T (p.His249=)	9509	ADAMTS2	Likely benign	-1	RCV001425591;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634658	178634658	178634658	-
NM_014244.5(ADAMTS2):c.745C>T (p.His249Tyr)	9509	ADAMTS2	Uncertain significance	-1	RCV002016584;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634660	178634660	178634660	-
NM_014244.5(ADAMTS2):c.738A>G (p.Leu246=)	9509	ADAMTS2	Likely benign	-1	RCV001404497;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634667	178634667	178634667	-
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile)	9509	ADAMTS2	Benign	rs398829	RCV000384500\|RCV000589550\|RCV000425362;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MedGen:CN169374	5	178634672	178634672	NC_000005.9:g.178634672C>T	ClinGen:CA3596182,UniProtKB:O95450#VAR_020058	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.732_733delinsTA (p.Val245Ile)	9509	ADAMTS2	Uncertain significance	-1	RCV003084695;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634672	178634673	NC_000005.9:g.178634672_178634673delinsTA	-
NM_014244.5(ADAMTS2):c.732C>T (p.Gly244=)	9509	ADAMTS2	Likely benign	rs143069972	RCV000554188\|RCV001553230;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178634673	178634673	5:g.178634673G>A	ClinGen:CA3596183	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.731G>A (p.Gly244Asp)	9509	ADAMTS2	Uncertain significance	-1	RCV002273556\|RCV002277628\|RCV003101553;	N	MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634674	178634674	178634674	-
NM_014244.5(ADAMTS2):c.726C>T (p.Ala242=)	9509	ADAMTS2	Likely benign	-1	RCV001413109;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634679	178634679	178634679	-
NM_014244.5(ADAMTS2):c.726C>G (p.Ala242_Leu243=)	9509	ADAMTS2	Likely benign	-1	RCV003045684;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634679	178634679	NC_000005.9:g.178634679G>C	-
NM_014244.5(ADAMTS2):c.725C>G (p.Ala242Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV003040684;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634680	178634680	NC_000005.9:g.178634680G>C	-
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs372103269	RCV000290119\|RCV000415769\|RCV002278603;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634681	178634681	NC_000005.9:g.178634681C>T	ClinGen:CA3596189	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.722_723delinsAT (p.Arg241His)	9509	ADAMTS2	Likely benign	-1	RCV001476489;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634682	178634683	178634682	-
NM_014244.5(ADAMTS2):c.723C>T (p.Arg241=)	9509	ADAMTS2	Likely benign	-1	RCV001485616;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634682	178634682	178634682	-
NM_014244.5(ADAMTS2):c.723C>A (p.Arg241_Ala242=)	9509	ADAMTS2	Likely benign	-1	RCV002880873;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634682	178634682	NC_000005.9:g.178634682G>T	-
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His)	9509	ADAMTS2	Benign	rs11750821	RCV000321964\|RCV000442585;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178634683	178634683	NC_000005.9:g.178634683C>T	ClinGen:CA3596191,UniProtKB:O95450#VAR_047928	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.722G>T (p.Arg241Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001929884;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634683	178634683	178634683	-
NM_014244.5(ADAMTS2):c.721C>T (p.Arg241Cys)	9509	ADAMTS2	Uncertain significance	rs140045997	RCV001247339;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634684	178634684	5:g.178634684G>A	-
NM_014244.5(ADAMTS2):c.699GGACAGCCT[3] (p.234DSL[3])	9509	ADAMTS2	Uncertain significance	rs778523767	RCV000792369;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634688	178634689	5:g.178634688_178634689insAGGCTGTCC	-
NM_014244.5(ADAMTS2):c.717C>T (p.Leu239=)	9509	ADAMTS2	Likely benign	-1	RCV002182014;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634688	178634688	178634688	-
NM_014244.5(ADAMTS2):c.699GGACAGCCT[1] (p.234DSL[1])	9509	ADAMTS2	Uncertain significance	-1	RCV001964876\|RCV002276938;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634689	178634697	178634688	-
NM_014244.5(ADAMTS2):c.714C>T (p.Ser238=)	9509	ADAMTS2	Likely benign	-1	RCV001404422;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634691	178634691	178634691	-
NM_014244.5(ADAMTS2):c.712A>C (p.Ser238Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV003070039;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634693	178634693	NC_000005.9:g.178634693T>G	-
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala)	9509	ADAMTS2	Uncertain significance	rs202197821	RCV000376606\|RCV000659043\|RCV002278604;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634695	178634695	NC_000005.9:g.178634695T>G	ClinGen:CA3596198	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.709G>T (p.Asp237Tyr)	9509	ADAMTS2	Uncertain significance	rs768334305	RCV001241553;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634696	178634696	5:g.178634696C>A	-
NM_014244.5(ADAMTS2):c.708G>C (p.Leu236=)	9509	ADAMTS2	Likely benign	-1	RCV001419808;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634697	178634697	178634697	-
NM_014244.5(ADAMTS2):c.708G>A (p.Leu236=)	9509	ADAMTS2	Likely benign	-1	RCV002141475;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634697	178634697	178634697	-
NM_014244.5(ADAMTS2):c.706C>T (p.Leu236=)	9509	ADAMTS2	Likely benign	-1	RCV001471388;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634699	178634699	178634699	-
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly)	9509	ADAMTS2	Benign/Likely benign	rs59567206	RCV000286849\|RCV000424605\|RCV002278605;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178634704	178634704	NC_000005.9:g.178634704T>C	ClinGen:CA3596201	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.700G>A (p.Asp234Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV003025543;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634705	178634705	NC_000005.9:g.178634705C>T	-
NM_014244.5(ADAMTS2):c.689-9_695del	9509	ADAMTS2	Likely pathogenic	-1	RCV001379916;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634710	178634725	178634709	-
NM_014244.5(ADAMTS2):c.693del (p.Ser232fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002306723;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634712	178634712	178634711	-
NM_014244.4(ADAMTS2):c.691del	9509	ADAMTS2	Pathogenic	rs1764738425	RCV001037261;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634714	178634714	5:g.178634714_178634714del	-
NM_014244.5(ADAMTS2):c.690G>A (p.Gly230=)	9509	ADAMTS2	Likely benign	-1	RCV001394883;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634715	178634715	178634715	-
NM_014244.5(ADAMTS2):c.690G>C (p.Gly230=)	9509	ADAMTS2	Likely benign	-1	RCV001502637;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634715	178634715	178634715	-
NM_014244.5(ADAMTS2):c.689-6T>C	9509	ADAMTS2	Likely benign	-1	RCV002794905;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634722	178634722	NC_000005.9:g.178634722A>G	-
NM_014244.5(ADAMTS2):c.689-8C>A	9509	ADAMTS2	Uncertain significance	-1	RCV002034289;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634724	178634724	178634724	-
NM_014244.5(ADAMTS2):c.689-8C>T	9509	ADAMTS2	Likely benign	-1	RCV002654316;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634724	178634724	NC_000005.9:g.178634724G>A	-
NM_014244.5(ADAMTS2):c.689-9T>C	9509	ADAMTS2	Likely benign	-1	RCV002203275;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634725	178634725	178634725	-
NM_014244.5(ADAMTS2):c.689-10C>T	9509	ADAMTS2	Likely benign	-1	RCV002078203;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634726	178634726	178634726	-
NM_014244.5(ADAMTS2):c.689-11T>C	9509	ADAMTS2	Likely benign	-1	RCV002142244;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634727	178634727	178634727	-
NM_014244.5(ADAMTS2):c.689-12C>G	9509	ADAMTS2	Likely benign	-1	RCV002871708;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634728	178634728	NC_000005.9:g.178634728G>C	-
NM_014244.5(ADAMTS2):c.689-18G>A	9509	ADAMTS2	Benign/Likely benign	rs202114393	RCV000441750\|RCV002059973;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634734	178634734	5:g.178634734C>T	ClinGen:CA3596209	CN169374 not specified;
NM_014244.5(ADAMTS2):c.689-19C>T	9509	ADAMTS2	Benign/Likely benign	rs201779376	RCV000605967\|RCV002063090;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178634735	178634735	5:g.178634735G>A	ClinGen:CA3596210	CN169374 not specified;
NC_000005.10:g.(?_179272901)_(179273074_?)del	9509	ADAMTS2	Pathogenic	-1	RCV001032486;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699902	178700075	-1	-
NC_000005.9:g.(?_178699902)_(179263603_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV001346318;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699902	179263603	-1	-
NC_000005.9:g.(?_178699902)_(178772339_?)del	9509	ADAMTS2	Pathogenic	-1	RCV001381826;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699902	178772339	-1	-
NM_014244.5(ADAMTS2):c.688+2T>C	9509	ADAMTS2	Likely pathogenic	-1	RCV002022641;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699910	178699910	178699910	-
NM_014244.5(ADAMTS2):c.688+1G>A	9509	ADAMTS2	Likely pathogenic	-1	RCV002022323;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699911	178699911	178699911	-
NM_014244.5(ADAMTS2):c.681G>A (p.Leu227=)	9509	ADAMTS2	Likely benign	-1	RCV001491230;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699919	178699919	178699919	-
NM_014244.5(ADAMTS2):c.679C>T (p.Leu227_Asp228=)	9509	ADAMTS2	Likely benign	-1	RCV002610558;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699921	178699921	NC_000005.9:g.178699921G>A	-
NM_014244.5(ADAMTS2):c.678C>G (p.Ala226=)	9509	ADAMTS2	Likely benign	-1	RCV001438791;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699922	178699922	178699922	-
NM_014244.5(ADAMTS2):c.678C>T (p.Ala226=)	9509	ADAMTS2	Likely benign	-1	RCV002194550;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699922	178699922	178699922	-
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)	9509	ADAMTS2	Pathogenic	rs137853146	RCV000005837\|RCV000523704;	Y	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178699927	178699927	5:g.178699927G>A	ClinGen:CA117556,OMIM:604539.0001	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=)	9509	ADAMTS2	Likely benign	-1	RCV002201721;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699928	178699928	178699928	-
NM_014244.5(ADAMTS2):c.670C>T (p.Pro224Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV002607006;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699930	178699930	NC_000005.9:g.178699930G>A	-
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs886060495	RCV000341785;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699931	178699931	NC_000005.9:g.178699931C>A	ClinGen:CA10624292	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.669G>A (p.Gly223=)	9509	ADAMTS2	Likely benign	-1	RCV001415729;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699931	178699931	178699931	-
NM_014244.5(ADAMTS2):c.664G>A (p.Gly222Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002647586;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699936	178699936	NC_000005.9:g.178699936C>T	-
NM_014244.5(ADAMTS2):c.663C>T (p.Leu221=)	9509	ADAMTS2	Likely benign	-1	RCV001491421;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699937	178699937	178699937	-
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val)	9509	ADAMTS2	Uncertain significance	rs756807336	RCV000399008;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699939	178699939	NC_000005.9:g.178699939G>C	ClinGen:CA3596239	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.661C>T (p.Leu221Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV002926726;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699939	178699939	NC_000005.9:g.178699939G>A	-
NM_014244.5(ADAMTS2):c.656C>G (p.Pro219Arg)	9509	ADAMTS2	Uncertain significance	rs1766583475	RCV001278378;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699944	178699944	5:g.178699944G>C	-
NM_014244.5(ADAMTS2):c.655C>T (p.Pro219Ser)	9509	ADAMTS2	Uncertain significance	rs146217716	RCV000487339\|RCV000764596;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699945	178699945	5:g.178699945G>A	ClinGen:CA3596241	CN169374 not specified;
NM_014244.5(ADAMTS2):c.654C>G (p.Ser218=)	9509	ADAMTS2	Likely benign	rs1581236091	RCV000938424\|RCV001409552;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699946	178699946	5:g.178699946G>C	-
NM_014244.5(ADAMTS2):c.654C>A (p.Ser218=)	9509	ADAMTS2	Likely benign	-1	RCV001446739;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699946	178699946	178699946	-
NM_014244.5(ADAMTS2):c.653C>T (p.Ser218Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV001551178\|RCV001836446;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699947	178699947	178699947	-
NM_014244.5(ADAMTS2):c.651G>A (p.Thr217=)	9509	ADAMTS2	Likely benign	rs138580383	RCV000842231\|RCV001276587;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699949	178699949	5:g.178699949C>T	-
NM_014244.5(ADAMTS2):c.650C>T (p.Thr217Met)	9509	ADAMTS2	Uncertain significance	-1	RCV003051186;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699950	178699950	NC_000005.9:g.178699950G>A	-
NM_014244.5(ADAMTS2):c.650C>A (p.Thr217Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV002838830;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699950	178699950	NC_000005.9:g.178699950G>T	-
NM_014244.5(ADAMTS2):c.648C>A (p.Pro216=)	9509	ADAMTS2	Likely benign	-1	RCV002113637;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699952	178699952	178699952	-
NM_014244.5(ADAMTS2):c.642G>A (p.Arg214_Pro215=)	9509	ADAMTS2	Likely benign	-1	RCV003093408;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699958	178699958	NC_000005.9:g.178699958C>T	-
NM_014244.5(ADAMTS2):c.641G>A (p.Arg214Gln)	9509	ADAMTS2	Uncertain significance	rs763524702	RCV000646235;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699959	178699959	5:g.178699959C>T	ClinGen:CA3596247	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.640C>T (p.Arg214Trp)	9509	ADAMTS2	Uncertain significance	rs144732073	RCV000384469\|RCV001859647;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699960	178699960	5:g.178699960G>A	ClinGen:CA3596248	CN169374 not specified;
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His)	9509	ADAMTS2	Uncertain significance	rs369215593	RCV001156971\|RCV001772351;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178699962	178699962	5:g.178699962C>T	-
NM_014244.5(ADAMTS2):c.637C>G (p.Arg213Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV003035915;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699963	178699963	NC_000005.9:g.178699963G>C	-
NM_014244.5(ADAMTS2):c.633G>A (p.Val211_Tyr212=)	9509	ADAMTS2	Likely benign	-1	RCV002726190;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699967	178699967	NC_000005.9:g.178699967C>T	-
NM_014244.5(ADAMTS2):c.621T>C (p.Arg207=)	9509	ADAMTS2	Likely benign	-1	RCV002099517;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699979	178699979	178699979	-
NM_014244.5(ADAMTS2):c.618C>A (p.Gly206=)	9509	ADAMTS2	Likely benign	-1	RCV002125750;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178699982	178699982	178699982	-
NM_014244.5(ADAMTS2):c.607G>A (p.Ala203Thr)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs543859669	RCV001278379\|RCV002276674;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178699993	178699993	5:g.178699993C>T	-
NM_014244.5(ADAMTS2):c.600G>A (p.Ala200=)	9509	ADAMTS2	Likely benign	rs761444202	RCV000953811;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700000	178700000	5:g.178700000C>T	-
NM_014244.5(ADAMTS2):c.600G>T (p.Ala200=)	9509	ADAMTS2	Likely benign	-1	RCV001424912;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700000	178700000	178700000	-
NM_014244.5(ADAMTS2):c.600G>C (p.Ala200=)	9509	ADAMTS2	Likely benign	-1	RCV002205304;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700000	178700000	178700000	-
NM_014244.5(ADAMTS2):c.599C>T (p.Ala200Val)	9509	ADAMTS2	Uncertain significance	rs749842975	RCV000815629\|RCV001772111;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178700001	178700001	5:g.178700001G>A	-
NM_014244.5(ADAMTS2):c.597G>A (p.Ala199=)	9509	ADAMTS2	Likely benign	-1	RCV001484210;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700003	178700003	178700003	-
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val)	9509	ADAMTS2	Benign/Likely benign	rs76704342	RCV000540231\|RCV001697311\|RCV002279357;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178700004	178700004	NC_000005.9:g.178700004G>A	ClinGen:CA3596260	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.596C>A (p.Ala199Glu)	9509	ADAMTS2	Uncertain significance	rs76704342	RCV000768142;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700004	178700004	NC_000005.9:g.178700004G>T	-
NM_014244.5(ADAMTS2):c.594G>A (p.Leu198=)	9509	ADAMTS2	Likely benign	-1	RCV001501621;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700006	178700006	178700006	-
NM_014244.5(ADAMTS2):c.591dup (p.Leu198fs)	9509	ADAMTS2	Pathogenic	-1	RCV001950844;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700008	178700009	178700008	-
NM_014244.5(ADAMTS2):c.588G>A (p.Lys196=)	9509	ADAMTS2	Likely benign	-1	RCV001400579\|RCV001558958;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178700012	178700012	178700012	-
NM_014244.5(ADAMTS2):c.581T>C (p.Leu194Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV003024860;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700019	178700019	NC_000005.9:g.178700019A>G	-
NM_014244.5(ADAMTS2):c.580T>C (p.Leu194=)	9509	ADAMTS2	Likely benign	rs1554094148	RCV000646246;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700020	178700020	5:g.178700020A>G	ClinGen:CA448033970	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.579C>G (p.Pro193=)	9509	ADAMTS2	Likely benign	-1	RCV001479380;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700021	178700021	178700021	-
NM_014244.5(ADAMTS2):c.573C>T (p.Ile191=)	9509	ADAMTS2	Likely benign	-1	RCV001444383;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700027	178700027	178700027	-
NM_014244.5(ADAMTS2):c.563A>G (p.Glu188Gly)	9509	ADAMTS2	Uncertain significance	rs772175576	RCV000413075\|RCV001352180;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700037	178700037	5:g.178700037T>C	ClinGen:CA3596269	CN169374 not specified;
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln)	9509	ADAMTS2	Uncertain significance	rs146064587	RCV001151547\|RCV001508536\|RCV002557268;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	178700038	178700038	5:g.178700038C>G	-
NM_014244.5(ADAMTS2):c.555G>A (p.Glu185=)	9509	ADAMTS2	Likely benign	-1	RCV002098105;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700045	178700045	178700045	-
NM_014244.5(ADAMTS2):c.548G>A (p.Arg183Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002899539;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700052	178700052	NC_000005.9:g.178700052C>T	-
NM_014244.5(ADAMTS2):c.547C>T (p.Arg183Trp)	9509	ADAMTS2	Uncertain significance	rs372225444	RCV000523703\|RCV000686820;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700053	178700053	5:g.178700053G>A	ClinGen:CA3596273	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.543G>C (p.Leu181=)	9509	ADAMTS2	Likely benign	-1	RCV002118946;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700057	178700057	178700057	-
NM_014244.5(ADAMTS2):c.535-4G>A	9509	ADAMTS2	Likely benign	rs765017540	RCV000970625;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700069	178700069	5:g.178700069C>T	-
NM_014244.5(ADAMTS2):c.535-5C>T	9509	ADAMTS2	Likely benign	rs772473736	RCV000909659;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700070	178700070	5:g.178700070G>A	-
NM_014244.5(ADAMTS2):c.535-6C>A	9509	ADAMTS2	Likely benign	-1	RCV003052450;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700071	178700071	NC_000005.9:g.178700071G>T	-
NM_014244.5(ADAMTS2):c.535-7C>T	9509	ADAMTS2	Likely benign	-1	RCV002214677;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700072	178700072	178700072	-
NM_014244.5(ADAMTS2):c.535-20C>T	9509	ADAMTS2	Likely benign	rs565768078	RCV000841755\|RCV002068600;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178700085	178700085	5:g.178700085G>A	-
NM_014244.5(ADAMTS2):c.534+50T>C	9509	ADAMTS2	Benign	rs2271214	RCV000834215\|RCV001543889;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770718	178770718	5:g.178770718A>G	-
NC_000005.9:g.(?_178770748)_(178772349_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV000646249;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770748	178772349		-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NC_000005.9:g.(?_178770748)_(178772329_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV003116718;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770748	178772329		-
NM_014244.5(ADAMTS2):c.534+20del	9509	ADAMTS2	Likely benign	-1	RCV002880239;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770748	178770748	NC_000005.9:g.178770748del	-
NM_014244.5(ADAMTS2):c.534+11A>C	9509	ADAMTS2	Likely benign	-1	RCV002169081;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770757	178770757	178770757	-
NC_000005.10:g.(?_179343757)_(179345338_?)dup	9509	ADAMTS2	Uncertain significance	-1	RCV001031691;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770758	178772339	-1	-
NC_000005.9:g.(?_178770758)_(178772339_?)del	9509	ADAMTS2	Pathogenic	-1	RCV003116714;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770758	178772339		-
NM_014244.5(ADAMTS2):c.534+9G>C	9509	ADAMTS2	Benign	rs2271213	RCV000278093\|RCV000432760;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178770759	178770759	NC_000005.9:g.178770759C>G	ClinGen:CA3596311	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.534+9G>T	9509	ADAMTS2	Likely benign	-1	RCV001415430;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770759	178770759	178770759	-
NM_014244.5(ADAMTS2):c.534+9G>A	9509	ADAMTS2	Likely benign	-1	RCV002096928;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770759	178770759	178770759	-
NM_014244.5(ADAMTS2):c.534+8C>T	9509	ADAMTS2	Likely benign	-1	RCV002580165;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770760	178770760	NC_000005.9:g.178770760G>A	-
NM_014244.5(ADAMTS2):c.531G>C (p.Gly177=)	9509	ADAMTS2	Likely benign	-1	RCV001484061;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770771	178770771	178770771	-
NM_014244.5(ADAMTS2):c.527A>G (p.Asp176Gly)	9509	ADAMTS2	Uncertain significance	-1	RCV002996765;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770775	178770775	NC_000005.9:g.178770775T>C	-
NM_014244.5(ADAMTS2):c.526G>A (p.Asp176Asn)	9509	ADAMTS2	Uncertain significance	rs1207222735	RCV001240056;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770776	178770776	5:g.178770776C>T	-
NM_014244.5(ADAMTS2):c.525C>T (p.Cys175=)	9509	ADAMTS2	Likely benign	rs140167371	RCV000972968\|RCV001698114;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178770777	178770777	5:g.178770777G>A	ClinGen:CA3596313	CN169374 not specified;
NM_014244.5(ADAMTS2):c.513G>T (p.Ala171=)	9509	ADAMTS2	Likely benign	rs369983319	RCV000876791\|RCV001562872;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178770789	178770789	5:g.178770789C>A	-
NM_014244.5(ADAMTS2):c.510G>C (p.Val170=)	9509	ADAMTS2	Likely benign	-1	RCV001407088;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770792	178770792	178770792	-
NM_014244.5(ADAMTS2):c.495C>G (p.Ala165=)	9509	ADAMTS2	Likely benign	-1	RCV002153427;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770807	178770807	178770807	-
NM_014244.5(ADAMTS2):c.492A>G (p.Leu164=)	9509	ADAMTS2	Likely benign	rs1581299393	RCV000983421;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770810	178770810	5:g.178770810T>C	-
NM_014244.5(ADAMTS2):c.487G>C (p.Gly163Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002576313;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770815	178770815	NC_000005.9:g.178770815C>G	-
NM_014244.5(ADAMTS2):c.486C>T (p.Ala162=)	9509	ADAMTS2	Likely benign	-1	RCV002140160;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770816	178770816	178770816	-
NM_014244.5(ADAMTS2):c.471C>T (p.Tyr157=)	9509	ADAMTS2	Likely benign	-1	RCV002220548;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770831	178770831	178770831	-
NM_014244.5(ADAMTS2):c.471C>G (p.Tyr157Ter)	9509	ADAMTS2	Pathogenic	-1	RCV003030613;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770831	178770831	NC_000005.9:g.178770831G>C	-
NM_014244.5(ADAMTS2):c.460_461insAAACTGCAGTGGCCTCT (p.Ser154fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002306525;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770841	178770842	178770841	-
NM_014244.5(ADAMTS2):c.461G>A (p.Ser154Asn)	9509	ADAMTS2	Uncertain significance	-1	RCV002912516;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770841	178770841	NC_000005.9:g.178770841C>T	-
NM_014244.5(ADAMTS2):c.458G>A (p.Gly153Glu)	9509	ADAMTS2	Uncertain significance	-1	RCV001905074;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770844	178770844	178770844	-
NM_014244.5(ADAMTS2):c.456C>T (p.Leu152=)	9509	ADAMTS2	Likely benign	-1	RCV002087113;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770846	178770846	178770846	-
NM_014244.5(ADAMTS2):c.456C>G (p.Leu152=)	9509	ADAMTS2	Likely benign	-1	RCV002114148;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770846	178770846	178770846	-
NM_014244.5(ADAMTS2):c.453G>A (p.Leu151=)	9509	ADAMTS2	Likely benign	-1	RCV002176732;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770849	178770849	178770849	-
NM_014244.5(ADAMTS2):c.449C>G (p.Pro150Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002923467;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770853	178770853	NC_000005.9:g.178770853G>C	-
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs886060496	RCV000337862;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770855	178770855	NC_000005.9:g.178770855C>T	ClinGen:CA10621536	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.442G>A (p.Val148Met)	9509	ADAMTS2	Uncertain significance	rs780603629	RCV000800368;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770860	178770860	5:g.178770860C>T	-
NM_014244.5(ADAMTS2):c.440G>T (p.Arg147Leu)	9509	ADAMTS2	Uncertain significance	rs1003741366	RCV001222323;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770862	178770862	5:g.178770862C>A	-
NM_014244.5(ADAMTS2):c.439C>G (p.Arg147Gly)	9509	ADAMTS2	Uncertain significance	rs1757854963	RCV001061076;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770863	178770863	5:g.178770863G>C	-
NM_014244.5(ADAMTS2):c.435C>T (p.Thr145=)	9509	ADAMTS2	Likely benign	-1	RCV002199454;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770867	178770867	178770867	-
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs755099137	RCV000646238\|RCV001566944;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178770879	178770879	NC_000005.9:g.178770879G>A	ClinGen:CA3596328	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.422dup (p.Glu142fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002307107;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770879	178770880	178770879	-
NM_014244.5(ADAMTS2):c.411G>A (p.Met137Ile)	9509	ADAMTS2	Uncertain significance	rs777436451	RCV000701822;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770891	178770891	5:g.178770891C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.408T>C (p.Thr136=)	9509	ADAMTS2	Likely benign	-1	RCV002169772;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770894	178770894	178770894	-
NM_014244.5(ADAMTS2):c.405C>T (p.Ala135=)	9509	ADAMTS2	Likely benign	-1	RCV001440381;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770897	178770897	178770897	-
NM_014244.5(ADAMTS2):c.396G>T (p.Ala132=)	9509	ADAMTS2	Likely benign	rs770621969	RCV000930595\|RCV001465419;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770906	178770906	5:g.178770906C>A	-
NM_014244.5(ADAMTS2):c.394G>A (p.Ala132Thr)	9509	ADAMTS2	Uncertain significance	rs774483457	RCV000817021;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770908	178770908	5:g.178770908C>T	-
NM_014244.5(ADAMTS2):c.386_387insATCGT (p.Leu130fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002310190;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770915	178770916	178770915	-
NM_014244.5(ADAMTS2):c.378C>T (p.Pro126=)	9509	ADAMTS2	Likely benign	-1	RCV001425280;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770924	178770924	178770924	-
NM_014244.5(ADAMTS2):c.377C>A (p.Pro126His)	9509	ADAMTS2	Uncertain significance	rs1247479642	RCV001318260;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770925	178770925	178770925	-
NM_014244.5(ADAMTS2):c.373C>T (p.Arg125Trp)	9509	ADAMTS2	Uncertain significance	rs535594659	RCV000818371;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770929	178770929	5:g.178770929G>A	-
NM_014244.5(ADAMTS2):c.370C>T (p.Leu124=)	9509	ADAMTS2	Likely benign	-1	RCV001486285;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770932	178770932	178770932	-
NM_014244.5(ADAMTS2):c.368G>A (p.Arg123Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002982726;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770934	178770934	NC_000005.9:g.178770934C>T	-
NM_014244.5(ADAMTS2):c.365T>G (p.Leu122Arg)	9509	ADAMTS2	Uncertain significance	rs1757857775	RCV001298804;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770937	178770937	178770937	-
NM_014244.5(ADAMTS2):c.346T>G (p.Phe116Val)	9509	ADAMTS2	Uncertain significance	rs1232899709	RCV001059554;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770956	178770956	5:g.178770956A>C	-
NM_014244.5(ADAMTS2):c.345C>T (p.Val115=)	9509	ADAMTS2	Likely benign	-1	RCV001407177;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770957	178770957	178770957	-
NM_014244.5(ADAMTS2):c.339C>T (p.Val113=)	9509	ADAMTS2	Likely benign	rs143877087	RCV000952383\|RCV001575272;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178770963	178770963	5:g.178770963G>A	-
NM_014244.5(ADAMTS2):c.339C>G (p.Val113=)	9509	ADAMTS2	Likely benign	-1	RCV001506777;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770963	178770963	178770963	-
NM_014244.5(ADAMTS2):c.337G>A (p.Val113Ile)	9509	ADAMTS2	Uncertain significance	rs1757858860	RCV001278380;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770965	178770965	5:g.178770965C>T	-
NM_014244.5(ADAMTS2):c.336T>C (p.Asn112=)	9509	ADAMTS2	Likely benign	-1	RCV002153993;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770966	178770966	178770966	-
NM_014244.5(ADAMTS2):c.335A>G (p.Asn112Ser)	9509	ADAMTS2	Uncertain significance	-1	RCV003056678;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770967	178770967	NC_000005.9:g.178770967T>C	-
NM_014244.5(ADAMTS2):c.330C>T (p.Phe110=)	9509	ADAMTS2	Likely benign	-1	RCV001423977;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770972	178770972	178770972	-
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=)	9509	ADAMTS2	Benign	rs2271212	RCV000390308\|RCV000425967;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374	5	178770981	178770981	NC_000005.9:g.178770981A>G	ClinGen:CA3596344	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.314C>G (p.Pro105Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV001944550;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770988	178770988	178770988	-
NM_014244.5(ADAMTS2):c.312G>A (p.Glu104=)	9509	ADAMTS2	Likely benign	rs781264319	RCV000977419;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770990	178770990	5:g.178770990C>T	-
NM_014244.5(ADAMTS2):c.310dup (p.Glu104fs)	9509	ADAMTS2	Pathogenic	-1	RCV001953508;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770991	178770992	178770991	-
NM_014244.5(ADAMTS2):c.310G>A (p.Glu104Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV001373880;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178770992	178770992	178770992	-
NM_014244.5(ADAMTS2):c.303C>A (p.Asn101Lys)	9509	ADAMTS2	Uncertain significance	rs373406403	RCV000800020\|RCV002534626;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178770999	178770999	5:g.178770999G>T	-
NM_014244.5(ADAMTS2):c.297A>G (p.Gly99_Gly100=)	9509	ADAMTS2	Likely benign	-1	RCV002847514;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771005	178771005	NC_000005.9:g.178771005T>C	-
NM_014244.5(ADAMTS2):c.295G>A (p.Gly99Arg)	9509	ADAMTS2	Uncertain significance	rs553818378	RCV001068505;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771007	178771007	5:g.178771007C>T	-
NM_014244.5(ADAMTS2):c.294C>G (p.Pro98_Gly99=)	9509	ADAMTS2	Likely benign	-1	RCV002634068;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771008	178771008	NC_000005.9:g.178771008G>C	-
NM_014244.5(ADAMTS2):c.293C>G (p.Pro98Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV003097564;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771009	178771009	NC_000005.9:g.178771009G>C	-
NM_014244.5(ADAMTS2):c.292C>G (p.Pro98Ala)	9509	ADAMTS2	Uncertain significance	-1	RCV001985672;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771010	178771010	178771010	-
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)	9509	ADAMTS2	Likely benign	-1	RCV001422913;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771011	178771011	178771011	-
NM_014244.5(ADAMTS2):c.285G>C (p.Pro95=)	9509	ADAMTS2	Likely benign	-1	RCV001501797;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771017	178771017	178771017	-
NM_014244.5(ADAMTS2):c.285G>T (p.Pro95_Ser96=)	9509	ADAMTS2	Likely benign	-1	RCV003047098;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771017	178771017	NC_000005.9:g.178771017C>A	-
NM_014244.5(ADAMTS2):c.284C>T (p.Pro95Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV003063633;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771018	178771018	NC_000005.9:g.178771018G>A	-
NM_014244.5(ADAMTS2):c.282C>T (p.Thr94_Pro95=)	9509	ADAMTS2	Likely benign	-1	RCV003033397;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771020	178771020	NC_000005.9:g.178771020G>A	-
NM_014244.5(ADAMTS2):c.279G>C (p.Arg93_Thr94=)	9509	ADAMTS2	Likely benign	-1	RCV002681152;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771023	178771023	NC_000005.9:g.178771023C>G	-
NM_014244.5(ADAMTS2):c.274del (p.Val92fs)	9509	ADAMTS2	Pathogenic	-1	RCV002000072;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771028	178771028	178771027	-
NM_014244.5(ADAMTS2):c.273G>C (p.Pro91=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs768036305	RCV000943957\|RCV002279652;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178771029	178771029	5:g.178771029C>G	-
NM_014244.5(ADAMTS2):c.273G>A (p.Pro91=)	9509	ADAMTS2	Likely benign	-1	RCV001447725;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771029	178771029	178771029	-
NM_014244.5(ADAMTS2):c.273G>T (p.Pro91=)	9509	ADAMTS2	Likely benign	-1	RCV001972358;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771029	178771029	178771029	-
NM_014244.5(ADAMTS2):c.269C>T (p.Ala90Val)	9509	ADAMTS2	Uncertain significance	-1	RCV001574159\|RCV001832787;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771033	178771033	178771033	-
NM_014244.5(ADAMTS2):c.268G>A (p.Ala90Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV003065488;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771034	178771034	NC_000005.9:g.178771034C>T	-
NM_014244.5(ADAMTS2):c.267C>G (p.Ala89=)	9509	ADAMTS2	Likely benign	-1	RCV001454892;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771035	178771035	178771035	-
NM_014244.5(ADAMTS2):c.267C>A (p.Ala89=)	9509	ADAMTS2	Likely benign	-1	RCV002152835;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771035	178771035	178771035	-
NM_014244.5(ADAMTS2):c.267C>T (p.Ala89_Ala90=)	9509	ADAMTS2	Likely benign	-1	RCV002867794;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771035	178771035	NC_000005.9:g.178771035G>A	-
NM_014244.5(ADAMTS2):c.265del (p.Ala89fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002307268;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771037	178771037	178771036	-
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs150047440	RCV000685941\|RCV000729774\|RCV002547092;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	178771042	178771042	NC_000005.9:g.178771042C>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs886060497	RCV000312476;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771044	178771044	NC_000005.9:g.178771044G>C	ClinGen:CA10624295	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.255A>C (p.Arg85_Ala86=)	9509	ADAMTS2	Likely benign	-1	RCV003078343;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771047	178771047	NC_000005.9:g.178771047T>G	-
NM_014244.5(ADAMTS2):c.253C>A (p.Arg85_Ala86=)	9509	ADAMTS2	Likely benign	-1	RCV003093102;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771049	178771049	NC_000005.9:g.178771049G>T	-
NM_014244.5(ADAMTS2):c.249G>A (p.Gly83=)	9509	ADAMTS2	Likely benign	-1	RCV002133191;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771053	178771053	178771053	-
NM_014244.5(ADAMTS2):c.246A>G (p.Ala82_Gly83=)	9509	ADAMTS2	Likely benign	-1	RCV002856157;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771056	178771056	NC_000005.9:g.178771056T>C	-
NM_014244.5(ADAMTS2):c.241A>C (p.Arg81=)	9509	ADAMTS2	Likely benign	rs936171876	RCV000943593;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771061	178771061	5:g.178771061T>G	-
NM_014244.5(ADAMTS2):c.237G>A (p.Thr79=)	9509	ADAMTS2	Likely benign	rs753133442	RCV000946179;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771065	178771065	5:g.178771065C>T	-
NM_014244.5(ADAMTS2):c.236C>T (p.Thr79Met)	9509	ADAMTS2	Uncertain significance	-1	RCV001961294;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771066	178771066	178771066	-
NM_014244.5(ADAMTS2):c.231A>C (p.Ala77=)	9509	ADAMTS2	Likely benign	-1	RCV002195012;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771071	178771071	178771071	-
NM_014244.5(ADAMTS2):c.228G>A (p.Ser76=)	9509	ADAMTS2	Uncertain significance	rs1162154516	RCV001056627;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771074	178771074	5:g.178771074C>T	-
NM_014244.5(ADAMTS2):c.228G>T (p.Ser76=)	9509	ADAMTS2	Likely benign	-1	RCV002128694;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771074	178771074	178771074	-
NM_014244.5(ADAMTS2):c.227C>A (p.Ser76Ter)	9509	ADAMTS2	Pathogenic	-1	RCV001382331;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771075	178771075	178771075	-
NM_014244.5(ADAMTS2):c.222G>C (p.Val74=)	9509	ADAMTS2	Likely benign	-1	RCV002183278;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771080	178771080	178771080	-
NM_014244.5(ADAMTS2):c.222G>A (p.Val74_Val75=)	9509	ADAMTS2	Likely benign	-1	RCV002979165;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771080	178771080	NC_000005.9:g.178771080C>T	-
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met)	9509	ADAMTS2	Benign	rs2271211	RCV000348622\|RCV001706586\|RCV002278606;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178771082	178771082	NC_000005.9:g.178771082C>T	ClinGen:CA3596365,UniProtKB:O95450#VAR_047927	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.216C>A (p.Ser72=)	9509	ADAMTS2	Likely benign	-1	RCV002140099;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771086	178771086	178771086	-
NM_014244.5(ADAMTS2):c.216C>G (p.Ser72=)	9509	ADAMTS2	Likely benign	-1	RCV002150692;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771086	178771086	178771086	-
NM_014244.5(ADAMTS2):c.215C>T (p.Ser72Phe)	9509	ADAMTS2	Uncertain significance	-1	RCV003057947;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771087	178771087	NC_000005.9:g.178771087G>A	-
NM_014244.5(ADAMTS2):c.204C>G (p.Gly68=)	9509	ADAMTS2	Likely benign	-1	RCV001432557;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771098	178771098	178771098	-
NM_014244.5(ADAMTS2):c.200A>G (p.Gln67Arg)	9509	ADAMTS2	Uncertain significance	rs745588970	RCV000528738;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771102	178771102	NC_000005.9:g.178771102T>C	ClinGen:CA362623335	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.192T>G (p.Thr64=)	9509	ADAMTS2	Likely benign	-1	RCV001499942;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771110	178771110	178771110	-
NM_014244.5(ADAMTS2):c.186G>A (p.Val62=)	9509	ADAMTS2	Likely benign	-1	RCV002095427;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771116	178771116	178771116	-
NM_014244.5(ADAMTS2):c.183C>G (p.Pro61=)	9509	ADAMTS2	Likely benign	rs375775300	RCV001047953;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771119	178771119	5:g.178771119G>C	-
NM_014244.5(ADAMTS2):c.183C>T (p.Pro61=)	9509	ADAMTS2	Likely benign	-1	RCV001416612;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771119	178771119	178771119	-
NM_014244.5(ADAMTS2):c.177G>A (p.Ala59=)	9509	ADAMTS2	Likely benign	-1	RCV002086574;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771125	178771125	178771125	-
NM_014244.5(ADAMTS2):c.169A>G (p.Ile57Val)	9509	ADAMTS2	Uncertain significance	rs768252348	RCV000815755;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771133	178771133	5:g.178771133T>C	-
NM_014244.5(ADAMTS2):c.168C>T (p.Arg56=)	9509	ADAMTS2	Likely benign	-1	RCV001406401;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771134	178771134	178771134	-
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His)	9509	ADAMTS2	Uncertain significance	rs201167346	RCV000687631;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771135	178771135	5:g.178771135C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.165G>C (p.Glu55Asp)	9509	ADAMTS2	Uncertain significance	rs1581300233	RCV000805204;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771137	178771137	5:g.178771137C>G	-
NM_014244.5(ADAMTS2):c.161C>T (p.Ala54Val)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs368221089	RCV000951539\|RCV001550065;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178771141	178771141	5:g.178771141G>A	-
NM_014244.5(ADAMTS2):c.157G>C (p.Gly53Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV002035995;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771145	178771145	178771145	-
NM_014244.5(ADAMTS2):c.156C>T (p.His52_Gly53=)	9509	ADAMTS2	Likely benign	-1	RCV002876667;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771146	178771146	NC_000005.9:g.178771146G>A	-
NM_014244.5(ADAMTS2):c.153dup (p.His52fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002309625;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771148	178771149	178771148	-
NM_014244.5(ADAMTS2):c.148C>T (p.Leu50=)	9509	ADAMTS2	Likely benign	-1	RCV002179568;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771154	178771154	178771154	-
NM_014244.5(ADAMTS2):c.148C>G (p.Leu50Val)	9509	ADAMTS2	Uncertain significance	-1	RCV002717301;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771154	178771154	NC_000005.9:g.178771154G>C	-
NM_014244.5(ADAMTS2):c.144G>A (p.Gly48=)	9509	ADAMTS2	Likely benign	-1	RCV002165338;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771158	178771158	178771158	-
NM_014244.5(ADAMTS2):c.143G>A (p.Gly48Glu)	9509	ADAMTS2	Uncertain significance	rs1019548575	RCV000695858\|RCV002532335;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178771159	178771159	NC_000005.9:g.178771159C>T	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.140-7G>A	9509	ADAMTS2	Likely benign	rs759954552	RCV000601289\|RCV002065431;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771169	178771169	5:g.178771169C>T	ClinGen:CA565358449	CN169374 not specified;
NM_014244.5(ADAMTS2):c.140-7G>T	9509	ADAMTS2	Likely benign	-1	RCV001492267;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771169	178771169	178771169	-
NM_014244.5(ADAMTS2):c.140-10C>G	9509	ADAMTS2	Likely benign	-1	RCV001443674;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771172	178771172	178771172	-
NM_014244.5(ADAMTS2):c.140-17G>T	9509	ADAMTS2	Likely benign	-1	RCV002612365;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178771179	178771179	NC_000005.9:g.178771179C>A	-
NM_014244.5(ADAMTS2):c.139+6T>A	9509	ADAMTS2	Uncertain significance	-1	RCV002612241;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772185	178772185	NC_000005.9:g.178772185A>T	-
NM_014244.5(ADAMTS2):c.139+4G>A	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1023653032	RCV000838576\|RCV001086605;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772187	178772187	5:g.178772187C>T	-
NM_014244.5(ADAMTS2):c.138A>G (p.Pro46=)	9509	ADAMTS2	Uncertain significance	rs1181728258	RCV000822957;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772192	178772192	5:g.178772192T>C	-
NM_014244.5(ADAMTS2):c.137del (p.Pro46fs)	9509	ADAMTS2	Pathogenic	-1	RCV001385713;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772193	178772193	178772192	-
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His)	9509	ADAMTS2	Uncertain significance	rs1250691659	RCV001151548;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772196	178772196	5:g.178772196G>T	-
NM_014244.5(ADAMTS2):c.132C>T (p.Asp44=)	9509	ADAMTS2	Likely benign	-1	RCV001459578;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772198	178772198	178772198	-
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1174228917	RCV001243792\|RCV001697344\|RCV002279388;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772199	178772200	5:g.178772199_178772200insCGG	ClinGen:CA565121198	CN169374 not specified;
NM_014244.5(ADAMTS2):c.130_131insCCA (p.Asp44delinsAlaAsn)	9509	ADAMTS2	Uncertain significance	rs1554100033	RCV000674103;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772199	178772200	5:g.178772199_178772200insTGG	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.100_130del (p.Pro34fs)	9509	ADAMTS2	Pathogenic	-1	RCV002627481;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772200	178772230	NC_000005.9:g.178772214_178772244del	-
NM_014244.5(ADAMTS2):c.129C>G (p.Ala43=)	9509	ADAMTS2	Likely benign	-1	RCV001398862;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772201	178772201	178772201	-
NM_014244.5(ADAMTS2):c.129C>T (p.Ala43=)	9509	ADAMTS2	Likely benign	-1	RCV001500608;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772201	178772201	178772201	-
NM_014244.5(ADAMTS2):c.129C>A (p.Ala43=)	9509	ADAMTS2	Uncertain significance	-1	RCV001990926;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772201	178772201	178772201	-
NM_014244.5(ADAMTS2):c.102_126dup (p.Ala43fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002470093;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772203	178772204	NC_000005.9:g.178772214_178772238dup	-
NM_014244.5(ADAMTS2):c.126C>T (p.Ala42_Ala43=)	9509	ADAMTS2	Likely benign	-1	RCV003071917;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772204	178772204	NC_000005.9:g.178772204G>A	-
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)	9509	ADAMTS2	Pathogenic/Likely pathogenic	-1	RCV001898525;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772206	178772207	178772206	-
NM_014244.5(ADAMTS2):c.121G>C (p.Ala41Pro)	9509	ADAMTS2	Uncertain significance	-1	RCV001930548\|RCV002556401;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178772209	178772209	178772209	-
NM_014244.5(ADAMTS2):c.120C>A (p.Ala40=)	9509	ADAMTS2	Likely benign	-1	RCV002088415;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772210	178772210	178772210	-
NM_014244.5(ADAMTS2):c.117C>A (p.Leu39=)	9509	ADAMTS2	Likely benign	-1	RCV001481358;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772213	178772213	178772213	-
NM_014244.5(ADAMTS2):c.115C>T (p.Leu39Phe)	9509	ADAMTS2	Uncertain significance	rs1064796637	RCV000482999\|RCV000814048;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772215	178772215	NC_000005.9:g.178772215G>A	ClinGen:CA16618190	CN169374 not specified;
NM_014244.5(ADAMTS2):c.113G>A (p.Arg38Lys)	9509	ADAMTS2	Uncertain significance	-1	RCV001995270;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772217	178772217	178772217	-
NM_014244.5(ADAMTS2):c.111C>T (p.Ala37=)	9509	ADAMTS2	Likely benign	-1	RCV001476057;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772219	178772219	178772219	-
NM_014244.5(ADAMTS2):c.110C>T (p.Ala37Val)	9509	ADAMTS2	Uncertain significance	rs1057524401	RCV000431296\|RCV000764597\|RCV002279219;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772220	178772220	5:g.178772220G>A	ClinGen:CA16604938	CN169374 not specified;
NM_014244.5(ADAMTS2):c.109G>A (p.Ala37Thr)	9509	ADAMTS2	Uncertain significance	rs1001487005	RCV001327847;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772221	178772221	178772221	-
NM_014244.5(ADAMTS2):c.108C>T (p.Asn36_Ala37=)	9509	ADAMTS2	Likely benign	-1	RCV002856900;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772222	178772222	NC_000005.9:g.178772222G>A	-
NM_014244.5(ADAMTS2):c.82_102dup (p.Pro34_Ala35insLeuProProProProProPro)	9509	ADAMTS2	Uncertain significance	-1	RCV003071182;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772227	178772228	NC_000005.9:g.178772229_178772249dup	-
NM_014244.5(ADAMTS2):c.84GCC[7] (p.Pro34dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs770212030	RCV001535514\|RCV001718890\|RCV002279406;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772228	178772229	5:g.178772228_178772229insGGC	ClinGen:CA565121205	CN169374 not specified;
NM_014244.5(ADAMTS2):c.84GCC[8] (p.Pro33_Pro34dup)	9509	ADAMTS2	Uncertain significance	rs770212030	RCV000694057\|RCV001766492;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178772228	178772229	5:g.178772228_178772229insGGCGGC	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.102C>A (p.Pro34=)	9509	ADAMTS2	Likely benign	rs1402048390	RCV000812365;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772228	178772228	5:g.178772228G>T	-
NM_014244.5(ADAMTS2):c.102C>T (p.Pro34=)	9509	ADAMTS2	Likely benign	-1	RCV001455611;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772228	178772228	178772228	-
NM_014244.5(ADAMTS2):c.78_101dup (p.Leu27_Pro34dup)	9509	ADAMTS2	Uncertain significance	-1	RCV001896631;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772228	178772229	178772228	-
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1064794627	RCV000482208\|RCV000488098\|RCV001081612\|RCV002279244;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772229	178772230	NC_000005.9:g.178772230_178772250dup	ClinGen:CA16618191	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.84GCC[5] (p.Pro34del)	9509	ADAMTS2	Uncertain significance	rs770212030	RCV000546875;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772229	178772231	NC_000005.9:g.178772229GGC[5]	ClinGen:CA3596389	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.80TCCTGCCGCCGCCGCCGCCGC[3] (p.Pro33_Pro34insLeuLeuProProProProProLeuLeuProPro	9509	ADAMTS2	Uncertain significance	-1	RCV002985488;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772229	178772230	NC_000005.9:g.178772241GGCGGCAGGAGCGGCGGCGGC[3]	-
NM_014244.5(ADAMTS2):c.99G>A (p.Pro33=)	9509	ADAMTS2	Likely benign	-1	RCV002157478;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772231	178772231	178772231	-
NM_014244.5(ADAMTS2):c.98C>A (p.Pro33Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002843176;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772232	178772232	NC_000005.9:g.178772232G>T	-
NM_014244.5(ADAMTS2):c.96G>A (p.Pro32_Pro33=)	9509	ADAMTS2	Likely benign	-1	RCV002918053;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772234	178772234	NC_000005.9:g.178772234C>T	-
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu)	9509	ADAMTS2	Uncertain significance	rs886060498	RCV000393462;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772235	178772235	NC_000005.9:g.178772235G>A	ClinGen:CA10621538	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs547548078	RCV000319642\|RCV001085893;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772236	178772236	5:g.178772236G>A	ClinGen:CA10607001	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.80_94del (p.22_26LLPPP[1])	9509	ADAMTS2	Uncertain significance	rs1041304220	RCV000800809;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772236	178772250	5:g.178772236_178772250del	-
NM_014244.5(ADAMTS2):c.93G>A (p.Pro31=)	9509	ADAMTS2	Likely benign	-1	RCV002185119;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772237	178772237	178772237	-
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs775509290	RCV000479371\|RCV000557815\|RCV001704626\|RCV002279245;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772241	178772242	5:g.178772241_178772242insGCGGCAGGA	ClinGen:CA3596390	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.89C>A (p.Pro30Gln)	9509	ADAMTS2	Uncertain significance	-1	RCV002625461;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772241	178772241	NC_000005.9:g.178772241G>T	-
NM_014244.5(ADAMTS2):c.87G>A (p.Pro29=)	9509	ADAMTS2	Likely benign	-1	RCV002126995;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772243	178772243	178772243	-
NM_014244.5(ADAMTS2):c.71_82del (p.Pro24_Leu27del)	9509	ADAMTS2	Uncertain significance	-1	RCV002602478;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772248	178772259	NC_000005.9:g.178772249_178772260del	-
NM_014244.5(ADAMTS2):c.81C>T (p.Leu27=)	9509	ADAMTS2	Likely benign	-1	RCV002120692;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772249	178772249	178772249	-
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup)	9509	ADAMTS2	Uncertain significance	rs763392299	RCV000646239\|RCV002222580\|RCV002279469;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772250	178772251	NC_000005.9:g.178772253GGC[4]	ClinGen:CA3596391	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.79_80insGCC (p.Pro26_Leu27insArg)	9509	ADAMTS2	Uncertain significance	rs1561778823	RCV000768143;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772250	178772251	NC_000005.9:g.178772251_178772252insGCG	-
NM_014244.5(ADAMTS2):c.71CGC[5] (p.Pro25_Pro26dup)	9509	ADAMTS2	Uncertain significance	rs763392299	RCV000821896;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772250	178772251	5:g.178772250_178772251insGCGGCG	-
NM_014244.5(ADAMTS2):c.79_80insCGCTCCTGCCGC (p.Pro26_Leu27insProLeuLeuPro)	9509	ADAMTS2	Uncertain significance	-1	RCV001962152;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772250	178772251	178772250	-
NM_014244.5(ADAMTS2):c.79_80insCAC (p.Pro26dup)	9509	ADAMTS2	Uncertain significance	-1	RCV001976386;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772250	178772251	178772250	-
NM_014244.5(ADAMTS2):c.71CGC[2] (p.Pro26del)	9509	ADAMTS2	Uncertain significance	rs763392299	RCV000798966\|RCV002279536;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772251	178772253	5:g.178772251_178772253del	-
NM_014244.5(ADAMTS2):c.76_77insTCCTGC (p.Pro25_Pro26insLeuLeu)	9509	ADAMTS2	Uncertain significance	-1	RCV003011162;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772253	178772254	NC_000005.9:g.178772255_178772256insAGGAGC	-
NM_014244.5(ADAMTS2):c.75G>T (p.Pro25=)	9509	ADAMTS2	Likely benign	-1	RCV001440565;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772255	178772255	178772255	-
NM_014244.5(ADAMTS2):c.75G>C (p.Pro25=)	9509	ADAMTS2	Likely benign	-1	RCV002194743;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772255	178772255	178772255	-
NM_014244.5(ADAMTS2):c.47TGC[11] (p.Leu21_Leu23dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs568040559	RCV000603369\|RCV000812855;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772259	178772260	NC_000005.9:g.178772262AGC[11]	ClinGen:CA565121232	CN169374 not specified;
NM_014244.5(ADAMTS2):c.47TGC[10] (p.Leu22_Leu23dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs568040559	RCV001241814\|RCV001704729\|RCV002279390;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772259	178772260	5:g.178772259_178772260insGCAGCA	ClinGen:CA448237004	CN169374 not specified;
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs193247334	RCV000767888;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772259	178772259	NC_000005.9:g.178772259G>A	-
NM_014244.5(ADAMTS2):c.47TGC[12] (p.Leu20_Leu23dup)	9509	ADAMTS2	Uncertain significance	rs568040559	RCV001246405;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772259	178772260	5:g.178772259_178772260insGCAGCAGCAGCA	-
NM_014244.5(ADAMTS2):c.47TGC[13] (p.Leu23_Pro24insLeuLeuLeuLeuLeu)	9509	ADAMTS2	Uncertain significance	-1	RCV002261774\|RCV003101459;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772259	178772260	178772259	-
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)	9509	ADAMTS2	Benign	rs568040559	RCV000313566\|RCV000389012\|RCV001536420;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MedGen:CN517202	5	178772260	178772262	NC_000005.9:g.178772262AGC[9]	ClinGen:CA3596392	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs568040559	RCV000364063\|RCV000481325\|RCV002278607;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN169374\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249	5	178772260	178772262	NC_000005.9:g.178772262AGC[7]	ClinGen:CA3596393	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.47TGC[6] (p.Leu22_Leu23del)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs568040559	RCV000695280\|RCV000838319;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178772260	178772265	NC_000005.9:g.178772262AGC[6]	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.69G>A (p.Leu23_Pro24=)	9509	ADAMTS2	Likely benign	-1	RCV002755786;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772261	178772261	NC_000005.9:g.178772261C>T	-
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs565885690	RCV000413166\|RCV000529279\|RCV002263666\|RCV002278642\|RCV002523921;	N	MedGen:CN169374\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202\|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000, Orphanet:98249\|MeSH:D030342,MedGen:C0950123	5	178772262	178772262	5:g.178772262A>G	ClinGen:CA3596394	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.66G>C (p.Leu22=)	9509	ADAMTS2	Likely benign	-1	RCV001413667;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772264	178772264	178772264	-
NM_014244.5(ADAMTS2):c.65_66insTCT (p.Leu23_Pro24insLeu)	9509	ADAMTS2	Uncertain significance	-1	RCV002629374;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772264	178772265	NC_000005.9:g.178772266_178772267insAAG	-
NM_014244.5(ADAMTS2):c.64_65insCGC (p.Leu21_Leu22insPro)	9509	ADAMTS2	Uncertain significance	-1	RCV003065265;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772265	178772266	NC_000005.9:g.178772267_178772268insGGC	-
NM_014244.5(ADAMTS2):c.64C>T (p.Leu22=)	9509	ADAMTS2	Likely benign	-1	RCV002177278;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772266	178772266	178772266	-
NM_014244.5(ADAMTS2):c.63G>C (p.Leu21=)	9509	ADAMTS2	Likely benign	-1	RCV002217252;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772267	178772267	178772267	-
NM_014244.5(ADAMTS2):c.59_63delinsAGCAGCA (p.Leu20fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002306894;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772267	178772271	178772267	-
NM_014244.5(ADAMTS2):c.55_56insACTCAGCAGCACGA (p.Leu19fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002307910;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772274	178772275	178772274	-
NM_014244.5(ADAMTS2):c.55del (p.Leu19fs)	9509	ADAMTS2	Pathogenic	rs1757915135	RCV001216722;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772275	178772275	5:g.178772275_178772275del	-
NM_014244.5(ADAMTS2):c.51_52insTTG (p.Leu23dup)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1365580904	RCV000812347\|RCV001566611;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178772278	178772279	5:g.178772278_178772279insCAA	-
NM_014244.5(ADAMTS2):c.48G>A (p.Leu16=)	9509	ADAMTS2	Likely benign	rs1342781405	RCV000983727;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772282	178772282	5:g.178772282C>T	-
NM_014244.5(ADAMTS2):c.48G>C (p.Leu16=)	9509	ADAMTS2	Likely benign	-1	RCV002085754;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772282	178772282	178772282	-
NM_014244.5(ADAMTS2):c.46del (p.Leu16fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002307886;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772284	178772284	178772283	-
NM_014244.5(ADAMTS2):c.44_45insACT (p.Leu23dup)	9509	ADAMTS2	Uncertain significance	rs540605802	RCV000668443;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772285	178772286	5:g.178772285_178772286insAGT	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.45G>C (p.Ala15_Leu16=)	9509	ADAMTS2	Likely benign	-1	RCV002615981;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772285	178772285	NC_000005.9:g.178772285C>G	-
NM_014244.5(ADAMTS2):c.42C>G (p.Pro14=)	9509	ADAMTS2	Likely benign	rs1581302053	RCV000975812\|RCV001472478;	N	MedGen:CN517202\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772288	178772288	5:g.178772288G>C	-
NM_014244.5(ADAMTS2):c.41C>T (p.Pro14Leu)	9509	ADAMTS2	Uncertain significance	-1	RCV001929778;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772289	178772289	178772289	-
NM_014244.5(ADAMTS2):c.41C>G (p.Pro14Arg)	9509	ADAMTS2	Uncertain significance	-1	RCV001887147;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772289	178772289	178772289	-
NM_014244.5(ADAMTS2):c.40C>T (p.Pro14Ser)	9509	ADAMTS2	Uncertain significance	rs918053466	RCV001228782;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772290	178772290	5:g.178772290G>A	-
NM_014244.5(ADAMTS2):c.39C>T (p.Cys13=)	9509	ADAMTS2	Likely benign	-1	RCV001477164;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772291	178772291	178772291	-
NM_014244.5(ADAMTS2):c.32del (p.Leu11fs)	9509	ADAMTS2	Pathogenic	rs1581302068	RCV000814825;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772298	178772298	5:g.178772298_178772298del	-
NM_014244.5(ADAMTS2):c.30C>A (p.Arg10=)	9509	ADAMTS2	Likely benign	-1	RCV002218169;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772300	178772300	178772300	-
NM_014244.5(ADAMTS2):c.28_29insAGATGTGTATA (p.Arg10fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002307993;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772301	178772302	178772301	-
NM_014244.5(ADAMTS2):c.27_28insTCTTATACACATCTGTG (p.Arg10fs)	9509	ADAMTS2	Likely pathogenic	-1	RCV002309880;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772302	178772303	178772302	-
NM_014244.5(ADAMTS2):c.22G>A (p.Ala8Thr)	9509	ADAMTS2	Uncertain significance	-1	RCV001875355;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772308	178772308	178772308	-
NM_014244.5(ADAMTS2):c.21C>G (p.Ala7=)	9509	ADAMTS2	Likely benign	-1	RCV001437381;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772309	178772309	178772309	-
NM_014244.5(ADAMTS2):c.21del (p.Ala8fs)	9509	ADAMTS2	Pathogenic	-1	RCV001876832;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772309	178772309	178772308	-
NM_014244.5(ADAMTS2):c.21C>T (p.Ala7_Ala8=)	9509	ADAMTS2	Likely benign	-1	RCV002875579;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772309	178772309	NC_000005.9:g.178772309G>A	-
NM_014244.5(ADAMTS2):c.15G>T (p.Ala5=)	9509	ADAMTS2	Likely benign	-1	RCV001453121;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772315	178772315	178772315	-
NM_014244.5(ADAMTS2):c.15G>C (p.Ala5=)	9509	ADAMTS2	Likely benign	-1	RCV002192190;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772315	178772315	178772315	-
NM_014244.5(ADAMTS2):c.11del (p.Pro4fs)	9509	ADAMTS2	Pathogenic	-1	RCV002881802;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772319	178772319	NC_000005.9:g.178772320del	-
NM_014244.5(ADAMTS2):c.9G>A (p.Pro3=)	9509	ADAMTS2	Likely benign	-1	RCV002072828;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772321	178772321	178772321	-
NM_014244.5(ADAMTS2):c.8C>T (p.Pro3Leu)	9509	ADAMTS2	Conflicting interpretations of pathogenicity	rs1407363425	RCV000698338\|RCV002534355;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MeSH:D030342,MedGen:C0950123	5	178772322	178772322	NC_000005.9:g.178772322G>A	-	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.-2C>A	9509	ADAMTS2	Uncertain significance	rs1757919556	RCV001278381;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772331	178772331	5:g.178772331G>T	-
NM_014244.5(ADAMTS2):c.-13C>A	9509	ADAMTS2	Uncertain significance	rs886060499	RCV000269393\|RCV000485044;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901\|MedGen:CN517202	5	178772342	178772342	NC_000005.9:g.178772342G>T	ClinGen:CA10624425	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NM_014244.5(ADAMTS2):c.-45T>C	9509	ADAMTS2	Uncertain significance	rs886060500	RCV000310586;	N	MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	178772374	178772374	NC_000005.9:g.178772374A>G	ClinGen:CA10624426	C2700425 225410 Ehlers-Danlos syndrome, type vii, autosomal recessive;
NC_000005.9:g.(?_175158654)_(179263593_?)dup	-1	subset of 65 genes: DDX41:NSD1	Uncertain significance	-1	RCV003109682\|RCV003116717;	N	MONDO:MONDO:0007299,MedGen:C4551477,OMIM:117550, Orphanet:821\|MONDO:MONDO:0009161,MedGen:C2700425,OMIM:225410, Orphanet:1901	5	175158654	179263593		-

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