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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: Myasthenic Syndromes, Congenital (D020294)
..Starting node ..Myopathy, Congenital, Compton-North (C567261)
Child Nodes:
Sister Nodes:
..Congenital myasthenic syndrome ib (C536089)
..Endplate Acetylcholinesterase Deficiency (C566415)
..Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors (C564979)
..Myasthenia, Familial Infantile, 1 (C565289)
..Myasthenia, Limb-Girdle, Autoimmune (C563552)
..Myasthenia, Limb-Girdle, with Tubular Aggregates (C566434)
..Myasthenic Syndrome due to Mutation in SCN4A (C565830)
..Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism (C563830)
..Myasthenic Syndrome, Congenital, Fast-Channel (C563832)
..Myasthenic Syndrome, Congenital, Ie (C563831)
..Myasthenic syndrome, congenital, postsynaptic slow-channel (C536091)
..Myasthenic syndrome, congenital, type Id (C536090)
..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
..Myopathy, Congenital, Compton-North (C567261)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8470

Name:

Myopathy, Congenital, Compton-North

Definition:

Alternative IDs:

OMIM:612540

ParentIDs:

MESH:D020294

TreeNumbers:

C10.668.758.800/C567261 |C16.320.590/C567261

Synonyms:

MYPCN

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C567261
MeSH: C567261
OMIM: 612540;
MSeqDR :
Genes: CNTN1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002304	Akinesia
3	HP:0001166	Arachnodactyly
4	HP:0001284	Areflexia
5	HP:0012385	Camptodactyly
6	HP:0001522	Death in infancy
7	HP:0001558	Decreased fetal movement
8	HP:0000268	Dolichocephaly
9	HP:0001989	Fetal akinesia sequence
10	HP:0000218	High palate
11	HP:0002705	High, narrow palate
12	HP:0000316	Hypertelorism
13	HP:0009473	Joint contracture of the hand
14	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
15	HP:0000300	Oval face
16	HP:0010557	Overlapping fingers
17	HP:0001561	Polyhydramnios
18	HP:0002033	Poor suck
19	HP:0002747	Respiratory insufficiency due to muscle weakness
20	HP:0030799	Scaphocephaly
21	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000012.12:g.(?_40691442)_(41073412_?)dup	1272	CNTN1	Uncertain significance	-1	RCV001032988;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41085244	41467214	-1	-
NC_000012.11:g.(?_41302215)_(41365335_?)dup	1272	CNTN1	Uncertain significance	-1	RCV000537599;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302215	41365335		-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)	1272	CNTN1	Uncertain significance	-1	RCV003120047;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302254	41302254	NC_000012.11:g.41302254T>A	-
NM_001843.4(CNTN1):c.21C>T (p.Val7_Ser8=)	1272	CNTN1	Likely benign	-1	RCV002914144;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302255	41302255	NC_000012.11:g.41302255C>T	-
NM_001843.4(CNTN1):c.27T>A (p.His9Gln)	1272	CNTN1	Uncertain significance	-1	RCV001921030;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302261	41302261	41302261	-
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr)	1272	CNTN1	Uncertain significance	rs145406782	RCV001306154;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302274	41302274	41302274	-
NM_001843.4(CNTN1):c.42T>C (p.Ser14=)	1272	CNTN1	Likely benign	-1	RCV002130324;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302276	41302276	41302276	-
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val)	1272	CNTN1	Uncertain significance	rs1944915906	RCV001327801;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302277	41302277	41302277	-
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)	1272	CNTN1	Uncertain significance	-1	RCV002903450;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302283	41302283	NC_000012.11:g.41302283A>C	-
NM_001843.4(CNTN1):c.54T>C (p.Cys18=)	1272	CNTN1	Benign	rs149203149	RCV000541185;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302288	41302288	NC_000012.11:g.41302288T>C	ClinGen:CA6516500	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.61+5G>A	1272	CNTN1	Uncertain significance	rs1944916936	RCV001339252;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302300	41302300	41302300	-
NM_001843.4(CNTN1):c.61+11T>G	1272	CNTN1	Likely benign	-1	RCV002811467;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302306	41302306	NC_000012.11:g.41302306T>G	-
NM_001843.4(CNTN1):c.61+16T>C	1272	CNTN1	Likely benign	-1	RCV002184205;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41302311	41302311	41302311	-
NM_001843.4(CNTN1):c.62-15T>C	1272	CNTN1	Likely benign	-1	RCV002790769;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303860	41303860	NC_000012.11:g.41303860T>C	-
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly)	1272	CNTN1	Uncertain significance	-1	RCV002033944;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303875	41303875	41303875	-
NM_001843.4(CNTN1):c.62del (p.Glu21fs)	1272	CNTN1	Pathogenic	-1	RCV001981916;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303875	41303875	41303874	-
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)	1272	CNTN1	Uncertain significance	-1	RCV003005338;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303881	41303881	NC_000012.11:g.41303881C>T	-
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His)	1272	CNTN1	Uncertain significance	-1	RCV002044925;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303895	41303895	41303895	-
NM_001843.4(CNTN1):c.84T>C (p.Tyr28=)	1272	CNTN1	Likely benign	-1	RCV002144206;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303897	41303897	41303897	-
NM_001843.4(CNTN1):c.90T>C (p.His30=)	1272	CNTN1	Benign	rs61748365	RCV000251554\|RCV000711286\|RCV001082871;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303903	41303903	12:g.41303903T>C	ClinGen:CA6516520	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.94+4A>G	1272	CNTN1	Uncertain significance	-1	RCV002604313;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303911	41303911	NC_000012.11:g.41303911A>G	-
NM_001843.4(CNTN1):c.94+15G>C	1272	CNTN1	Likely benign	-1	RCV002106665;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41303922	41303922	41303922	-
NM_001843.4(CNTN1):c.95-7C>A	1272	CNTN1	Likely benign	rs1362923481	RCV000944922\|RCV001494843;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312434	41312434	12:g.41312434C>A	-
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)	1272	CNTN1	Uncertain significance	-1	RCV002963237;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312453	41312453	NC_000012.11:g.41312453A>G	-
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val)	1272	CNTN1	Uncertain significance	rs1945329610	RCV001349910;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312477	41312477	41312477	-
NM_001843.4(CNTN1):c.132A>G (p.Glu44=)	1272	CNTN1	Likely benign	rs1555180046	RCV000645990;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312478	41312478	12:g.41312478A>G	ClinGen:CA479265346	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.147T>C (p.Asn49=)	1272	CNTN1	Likely benign	rs61754100	RCV000555511\|RCV001703791;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41312493	41312493	12:g.41312493T>C	ClinGen:CA6516543	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys)	1272	CNTN1	Uncertain significance	rs1945330731	RCV001064652;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312506	41312506	12:g.41312506G>A	-
NM_001843.4(CNTN1):c.168A>C (p.Ser56=)	1272	CNTN1	Likely benign	-1	RCV002126879;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312514	41312514	41312514	-
NM_001843.4(CNTN1):c.189C>T (p.Leu63=)	1272	CNTN1	Likely benign	rs761963268	RCV000875512;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312535	41312535	12:g.41312535C>T	-
NM_001843.4(CNTN1):c.201A>G (p.Ala67=)	1272	CNTN1	Likely benign	-1	RCV001400753;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312547	41312547	41312547	-
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln)	1272	CNTN1	Uncertain significance	-1	RCV001935335;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312549	41312549	41312549	-
NM_001843.4(CNTN1):c.207C>T (p.Ala69=)	1272	CNTN1	Benign/Likely benign	rs7297132	RCV000195141\|RCV000557016\|RCV001705078;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41312553	41312553	12:g.41312553C>T	ClinGen:CA209771	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.215dup (p.Val74fs)	1272	CNTN1	Pathogenic	rs1565946117	RCV000689042;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312558	41312559	12:g.41312558_41312559insT	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.216C>T (p.Phe72_Pro73=)	1272	CNTN1	Likely benign	-1	RCV002577554;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312562	41312562	NC_000012.11:g.41312562C>T	-
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu)	1272	CNTN1	Uncertain significance	rs1033656256	RCV000797384;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312564	41312564	12:g.41312564C>T	-
NM_001843.4(CNTN1):c.219G>A (p.Pro73=)	1272	CNTN1	Likely benign	-1	RCV002103771;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312565	41312565	41312565	-
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)	1272	CNTN1	Uncertain significance	-1	RCV003092431;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312567	41312567	NC_000012.11:g.41312567T>G	-
NM_001843.4(CNTN1):c.225C>T (p.Tyr75=)	1272	CNTN1	Likely benign	-1	RCV002212779;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312571	41312571	41312571	-
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg)	1272	CNTN1	Uncertain significance	rs1355732702	RCV001049071;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312573	41312573	12:g.41312573A>G	-
NM_001843.4(CNTN1):c.227+10C>T	1272	CNTN1	Likely benign	-1	RCV001435418;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312583	41312583	41312583	-
NM_001843.4(CNTN1):c.227+23dup	1272	CNTN1	Benign	-1	RCV002196640;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312592	41312593	41312592	-
NM_001843.4(CNTN1):c.227+20T>C	1272	CNTN1	Likely benign	-1	RCV002988506;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41312593	41312593	NC_000012.11:g.41312593T>C	-
NM_001843.4(CNTN1):c.228-8del	1272	CNTN1	Benign	-1	RCV002720523;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316046	41316046	NC_000012.11:g.41316050del	-
NM_001843.4(CNTN1):c.228-5C>A	1272	CNTN1	Likely benign	rs1407187381	RCV000921893\|RCV001434542;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316053	41316053	12:g.41316053C>A	-
NM_001843.4(CNTN1):c.228-3_228-2del	1272	CNTN1	Uncertain significance	rs1945468731	RCV001296508;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316054	41316055	41316053	-
NM_001843.4(CNTN1):c.246G>C (p.Gly82=)	1272	CNTN1	Likely benign	rs765121768	RCV000875925;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316076	41316076	12:g.41316076G>C	-
NM_001843.4(CNTN1):c.246G>A (p.Gly82=)	1272	CNTN1	Likely benign	-1	RCV002075376;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316076	41316076	41316076	-
NM_001843.4(CNTN1):c.249C>T (p.Asp83=)	1272	CNTN1	Likely benign	-1	RCV002081843;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316079	41316079	41316079	-
NM_001843.4(CNTN1):c.252T>A (p.Val84=)	1272	CNTN1	Likely benign	-1	RCV001418443;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316082	41316082	41316082	-
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly)	1272	CNTN1	Uncertain significance	-1	RCV001992542;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316092	41316092	41316092	-
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn)	1272	CNTN1	Uncertain significance	rs751205601	RCV000799675;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316095	41316095	12:g.41316095G>A	-
NM_001843.4(CNTN1):c.268C>A (p.Arg90=)	1272	CNTN1	Likely benign	rs756907367	RCV000919494;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316098	41316098	12:g.41316098C>A	-
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)	1272	CNTN1	Pathogenic	-1	RCV003051748;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316098	41316098	NC_000012.11:g.41316098C>T	-
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)	1272	CNTN1	Uncertain significance	-1	RCV002646150;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316099	41316099	NC_000012.11:g.41316099G>A	-
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)	1272	CNTN1	Conflicting interpretations of pathogenicity	rs142755965	RCV000481172\|RCV001044442;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316108	41316108	12:g.41316108T>C	ClinGen:CA6516571	CN169374 not specified;
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)	1272	CNTN1	Uncertain significance	-1	RCV002599401;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316111	41316111	NC_000012.11:g.41316111T>C	-
NM_001843.4(CNTN1):c.304A>C (p.Asn102His)	1272	CNTN1	Uncertain significance	rs749864561	RCV001070074;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316134	41316134	12:g.41316134A>C	-
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg)	1272	CNTN1	Uncertain significance	rs773305634	RCV000645982;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316144	41316144	12:g.41316144A>G	ClinGen:CA6516579	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.315A>G (p.Lys105=)	1272	CNTN1	Likely benign	-1	RCV001492596;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316145	41316145	41316145	-
NM_001843.4(CNTN1):c.330A>T (p.Gly110=)	1272	CNTN1	Uncertain significance	-1	RCV002045068;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316160	41316160	41316160	-
NM_001843.4(CNTN1):c.342T>C (p.Cys114=)	1272	CNTN1	Likely benign	rs1555180947	RCV000611773\|RCV002531628;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316172	41316172	12:g.41316172T>C	ClinGen:CA479269397	CN169374 not specified;
NM_001843.4(CNTN1):c.348A>G (p.Ala116=)	1272	CNTN1	Likely benign	-1	RCV001466814;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316178	41316178	41316178	-
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu)	1272	CNTN1	Uncertain significance	rs755559017	RCV000823350;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316228	41316228	12:g.41316228G>A	-
NM_001843.4(CNTN1):c.400+8A>C	1272	CNTN1	Likely benign	-1	RCV002132529;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316238	41316238	41316238	-
NM_001843.4(CNTN1):c.400+13T>C	1272	CNTN1	Likely benign	rs201396853	RCV000243172\|RCV002058068;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41316243	41316243	12:g.41316243T>C	ClinGen:CA6516595	CN169374 not specified;
NM_001843.4(CNTN1):c.401-14del	1272	CNTN1	Benign/Likely benign	rs148387796	RCV000247944\|RCV001705357\|RCV002058069;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318339	41318339	12:g.41318339_41318339del	ClinGen:CA6516601	CN169374 not specified;
NM_001843.4(CNTN1):c.401-17T>G	1272	CNTN1	Likely benign	-1	RCV002105810;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318342	41318342	41318342	-
NM_001843.4(CNTN1):c.401-9C>T	1272	CNTN1	Benign	rs57340925	RCV000116771\|RCV000526602;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318350	41318350	12:g.41318350C>T	ClinGen:CA152450	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.401-8G>A	1272	CNTN1	Likely benign	-1	RCV001478560;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318351	41318351	41318351	-
NM_001843.4(CNTN1):c.401-6A>G	1272	CNTN1	Likely benign	-1	RCV001492647;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318353	41318353	41318353	-
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)	1272	CNTN1	Uncertain significance	-1	RCV003085349;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318367	41318367	NC_000012.11:g.41318367C>G	-
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu)	1272	CNTN1	Uncertain significance	rs184703177	RCV001296346;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318368	41318368	41318368	-
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro)	1272	CNTN1	Uncertain significance	-1	RCV002002100;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318386	41318386	41318386	-
NM_001843.4(CNTN1):c.429T>C (p.Arg143=)	1272	CNTN1	Likely benign	-1	RCV001400136;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318387	41318387	41318387	-
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)	1272	CNTN1	Uncertain significance	-1	RCV003084332;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318394	41318394	NC_000012.11:g.41318394G>A	-
NM_001843.4(CNTN1):c.441A>G (p.Arg147_Val148=)	1272	CNTN1	Likely benign	-1	RCV002629221;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318399	41318399	NC_000012.11:g.41318399A>G	-
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)	1272	CNTN1	Uncertain significance	-1	RCV002839306;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318415	41318415	NC_000012.11:g.41318415G>C	-
NM_001843.4(CNTN1):c.480C>T (p.Pro160_Pro161=)	1272	CNTN1	Likely benign	-1	RCV003091384;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318438	41318438	NC_000012.11:g.41318438C>T	-
NM_001843.4(CNTN1):c.480C>G (p.Pro160_Pro161=)	1272	CNTN1	Likely benign	-1	RCV002766767;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318438	41318438	NC_000012.11:g.41318438C>G	-
NM_001843.4(CNTN1):c.495A>G (p.Pro165=)	1272	CNTN1	Uncertain significance	rs751830078	RCV000808103;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318453	41318453	12:g.41318453A>G	-
NM_001843.4(CNTN1):c.496+20_496+23del	1272	CNTN1	Likely benign	-1	RCV003089950;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41318472	41318475	NC_000012.11:g.41318474_41318477del	-
NM_001843.4(CNTN1):c.497-19A>T	1272	CNTN1	Likely benign	-1	RCV002606652;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323579	41323579	NC_000012.11:g.41323579A>T	-
NM_001843.4(CNTN1):c.497-17G>T	1272	CNTN1	Benign/Likely benign	rs142799954	RCV000418112\|RCV002059579;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323581	41323581	12:g.41323581G>T	ClinGen:CA6516641	CN169374 not specified;
NM_001843.4(CNTN1):c.497-16C>T	1272	CNTN1	Likely benign	-1	RCV003073799;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323582	41323582	NC_000012.11:g.41323582C>T	-
NM_001843.4(CNTN1):c.497-7C>A	1272	CNTN1	Uncertain significance	-1	RCV001373140;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323591	41323591	41323591	-
NM_001843.4(CNTN1):c.497-4C>T	1272	CNTN1	Likely benign	-1	RCV002104806;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323594	41323594	41323594	-
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn)	1272	CNTN1	Uncertain significance	-1	RCV002037351;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323600	41323600	41323600	-
NM_001843.4(CNTN1):c.512G>A (p.Arg171His)	1272	CNTN1	Uncertain significance	rs201037986	RCV001243488;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323613	41323613	12:g.41323613G>A	-
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu)	1272	CNTN1	Uncertain significance	rs201037986	RCV001302741;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323613	41323613	41323613	-
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val)	1272	CNTN1	Uncertain significance	rs1481545617	RCV001318751;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323642	41323642	41323642	-
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu)	1272	CNTN1	Uncertain significance	-1	RCV001928525;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323665	41323665	41323665	-
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu)	1272	CNTN1	Uncertain significance	rs763318952	RCV001050980;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323666	41323666	12:g.41323666G>C	-
NM_001843.4(CNTN1):c.612C>T (p.Ser204=)	1272	CNTN1	Likely benign	rs146088900	RCV000905893;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323713	41323713	12:g.41323713C>T	-
NM_001843.4(CNTN1):c.612C>G (p.Ser204=)	1272	CNTN1	Likely benign	-1	RCV001429567;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323713	41323713	41323713	-
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)	1272	CNTN1	Uncertain significance	-1	RCV003106252;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323719	41323719	NC_000012.11:g.41323719A>C	-
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe)	1272	CNTN1	Uncertain significance	-1	RCV001956852;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323727	41323727	41323727	-
NM_001843.4(CNTN1):c.633C>T (p.Cys211=)	1272	CNTN1	Likely benign	rs746981200	RCV000878880;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323734	41323734	12:g.41323734C>T	-
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly)	1272	CNTN1	Uncertain significance	rs138639141	RCV000645983\|RCV001551768\|RCV002528919;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	12	41323744	41323744	NC_000012.11:g.41323744A>G	ClinGen:CA6516661	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn)	1272	CNTN1	Uncertain significance	rs1555182848	RCV000556052\|RCV001584303;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41323745	41323745	NC_000012.11:g.41323745G>A	ClinGen:CA384422773	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)	1272	CNTN1	Uncertain significance	-1	RCV002760911;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323747	41323747	NC_000012.11:g.41323747C>T	-
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val)	1272	CNTN1	Uncertain significance	rs752293954	RCV000482380\|RCV000791736;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323753	41323753	NC_000012.11:g.41323753A>G	ClinGen:CA6516662	CN169374 not specified;
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr)	1272	CNTN1	Uncertain significance	rs1379159066	RCV001299118;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323754	41323754	41323754	-
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)	1272	CNTN1	Uncertain significance	-1	RCV002303002;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323764	41323764	41323764	-
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu)	1272	CNTN1	Uncertain significance	rs868602241	RCV001350476;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323779	41323779	41323779	-
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)	1272	CNTN1	Uncertain significance	-1	RCV002654984;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323793	41323793	NC_000012.11:g.41323793C>T	-
NM_001843.4(CNTN1):c.693A>G (p.Pro231=)	1272	CNTN1	Likely benign	-1	RCV001393530;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323794	41323794	41323794	-
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val)	1272	CNTN1	Uncertain significance	rs972742579	RCV001060598;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323795	41323795	12:g.41323795A>G	-
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr)	1272	CNTN1	Uncertain significance	rs763560467	RCV001235112;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323796	41323796	12:g.41323796T>C	-
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala)	1272	CNTN1	Uncertain significance	-1	RCV001919899;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323798	41323798	41323798	-
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)	1272	CNTN1	Uncertain significance	-1	RCV003046954;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323801	41323802	NC_000012.11:g.41323802_41323804dup	-
NM_001843.4(CNTN1):c.703+17T>A	1272	CNTN1	Likely benign	-1	RCV002193407;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41323821	41323821	41323821	-
NM_001843.4(CNTN1):c.704-11C>G	1272	CNTN1	Likely benign	-1	RCV002154996;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327252	41327252	41327252	-
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)	1272	CNTN1	Uncertain significance	-1	RCV002579867;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327266	41327266	NC_000012.11:g.41327266C>A	-
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr)	1272	CNTN1	Uncertain significance	-1	RCV001967433;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327283	41327283	41327283	-
NM_001843.4(CNTN1):c.726T>A (p.Ala242=)	1272	CNTN1	Uncertain significance	-1	RCV001991629;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327285	41327285	41327285	-
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val)	1272	CNTN1	Uncertain significance	rs149305190	RCV000703168;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327289	41327289	12:g.41327289A>G	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile)	1272	CNTN1	Uncertain significance	rs1478025106	RCV000805541;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327292	41327292	12:g.41327292G>A	-
NM_001843.4(CNTN1):c.735A>T (p.Val245=)	1272	CNTN1	Likely benign	rs1592279006	RCV000937186\|RCV001429653;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327294	41327294	12:g.41327294A>T	-
NM_001843.4(CNTN1):c.750T>C (p.Asp250=)	1272	CNTN1	Likely benign	-1	RCV001452486;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327309	41327309	41327309	-
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile)	1272	CNTN1	Uncertain significance	-1	RCV001918913;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327310	41327310	41327310	-
NM_001843.4(CNTN1):c.760T>C (p.Leu254=)	1272	CNTN1	Likely benign	-1	RCV001468906;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327319	41327319	41327319	-
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp)	1272	CNTN1	Uncertain significance	rs1592279096	RCV000819603;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327320	41327320	12:g.41327320T>G	-
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)	1272	CNTN1	Uncertain significance	-1	RCV002816148;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327329	41327329	NC_000012.11:g.41327329A>G	-
NM_001843.4(CNTN1):c.771A>G (p.Gln257=)	1272	CNTN1	Uncertain significance	-1	RCV001961140;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327330	41327330	41327330	-
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser)	1272	CNTN1	Uncertain significance	rs139270901	RCV001035889;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327332	41327332	12:g.41327332A>G	-
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys)	1272	CNTN1	Uncertain significance	-1	RCV002022264;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327333	41327333	41327333	-
NM_001843.4(CNTN1):c.775G>A (p.Val259Met)	1272	CNTN1	Uncertain significance	-1	RCV001880650;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327334	41327334	41327334	-
NM_001843.4(CNTN1):c.803+7A>G	1272	CNTN1	Likely benign	-1	RCV001470013;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327369	41327369	41327369	-
NM_001843.4(CNTN1):c.803+9A>T	1272	CNTN1	Likely benign	-1	RCV001486128;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327371	41327371	41327371	-
NM_001843.4(CNTN1):c.803+14C>T	1272	CNTN1	Likely benign	-1	RCV002629049;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327376	41327376	NC_000012.11:g.41327376C>T	-
NM_001843.4(CNTN1):c.804-19T>C	1272	CNTN1	Likely benign	-1	RCV002156003;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327480	41327480	41327480	-
NM_001843.4(CNTN1):c.804-17G>C	1272	CNTN1	Likely benign	-1	RCV002085284;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327482	41327482	41327482	-
NM_001843.4(CNTN1):c.804-13C>G	1272	CNTN1	Likely benign	-1	RCV002111870;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327486	41327486	41327486	-
NM_001843.4(CNTN1):c.804-8A>G	1272	CNTN1	Likely benign	rs56172264	RCV000243278\|RCV000529679\|RCV001702391;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41327491	41327491	12:g.41327491A>G	ClinGen:CA6516719	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu)	1272	CNTN1	Uncertain significance	rs1158555477	RCV000687917;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327507	41327507	12:g.41327507C>T	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.813G>A (p.Pro271=)	1272	CNTN1	Likely benign	rs778411720	RCV000952135;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327508	41327508	12:g.41327508G>A	-
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln)	1272	CNTN1	Uncertain significance	rs374200408	RCV000501823\|RCV001242120\|RCV001508330;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41327516	41327516	NC_000012.11:g.41327516G>A	ClinGen:CA6516723	CN169374 not specified;
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp)	1272	CNTN1	Uncertain significance	-1	RCV002027761\|RCV002548977;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MeSH:D030342,MedGen:C0950123	12	41327521	41327521	41327521	-
NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln)	1272	CNTN1	Likely benign	-1	RCV002108630;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327522	41327522	41327522	-
NM_001843.4(CNTN1):c.855T>C (p.Thr285=)	1272	CNTN1	Likely benign	-1	RCV001769367\|RCV002540509;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327550	41327550	41327550	-
NM_001843.4(CNTN1):c.858T>A (p.Ala286=)	1272	CNTN1	Likely benign	-1	RCV001502473;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327553	41327553	41327553	-
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val)	1272	CNTN1	Uncertain significance	rs1458269504	RCV001237733;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327557	41327557	12:g.41327557A>G	-
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile)	1272	CNTN1	Uncertain significance	rs1363438018	RCV001062295;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327564	41327564	12:g.41327564C>T	-
NM_001843.4(CNTN1):c.871dup (p.Ser291fs)	1272	CNTN1	Pathogenic	rs587776718	RCV000010147;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327565	41327566	12:g.41327565_41327566insT	ClinGen:CA120529,OMIM:600016.0001	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.873T>A (p.Ser291=)	1272	CNTN1	Benign/Likely benign	-1	RCV001521030\|RCV001587457;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41327568	41327568	41327568	-
NM_001843.4(CNTN1):c.882T>C (p.Val294=)	1272	CNTN1	Likely benign	rs760650497	RCV000827417\|RCV002062212;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327577	41327577	12:g.41327577T>C	-
NM_001843.4(CNTN1):c.882T>A (p.Val294_Leu295=)	1272	CNTN1	Likely benign	-1	RCV002775606;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327577	41327577	NC_000012.11:g.41327577T>A	-
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu)	1272	CNTN1	Uncertain significance	-1	RCV002009969;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327596	41327596	41327596	-
NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro)	1272	CNTN1	Likely benign	rs548330075	RCV000246809\|RCV002058070;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327600	41327600	12:g.41327600T>C	ClinGen:CA6516740	CN169374 not specified;
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln)	1272	CNTN1	Uncertain significance	rs1487254662	RCV000686378;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327602	41327602	NC_000012.11:g.41327602G>C	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala)	1272	CNTN1	Uncertain significance	rs1283320182	RCV001323082;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327603	41327603	41327603	-
NM_001843.4(CNTN1):c.918C>T (p.Gly306=)	1272	CNTN1	Uncertain significance	-1	RCV001366236;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327613	41327613	41327613	-
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val)	1272	CNTN1	Uncertain significance	rs756830197	RCV000686390;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327614	41327614	NC_000012.11:g.41327614A>G	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu)	1272	CNTN1	Uncertain significance	rs1945984350	RCV001338161;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327645	41327645	41327645	-
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys)	1272	CNTN1	Uncertain significance	rs148624625	RCV000645989;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327666	41327666	12:g.41327666G>A	ClinGen:CA6516747	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.985+6T>C	1272	CNTN1	Uncertain significance	-1	RCV002030090;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41327686	41327686	41327686	-
NM_001843.4(CNTN1):c.986-16del	1272	CNTN1	Benign	rs113450310	RCV000839676\|RCV002068557;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330567	41330567	12:g.41330567_41330567del	-
NM_001843.4(CNTN1):c.986-16G>C	1272	CNTN1	Likely benign	-1	RCV002081028;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330567	41330567	41330567	-
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr)	1272	CNTN1	Uncertain significance	rs200591895	RCV000645987;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330603	41330603	12:g.41330603C>T	ClinGen:CA6516766	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1013A>G (p.Asn338Ser)	1272	CNTN1	Likely benign	rs200519841	RCV001318234;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330610	41330610	41330610	-
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=)	1272	CNTN1	Benign	rs935105	RCV000116764\|RCV001514636;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330611	41330611	12:g.41330611T>C	ClinGen:CA152436	CN169374 not specified;
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met)	1272	CNTN1	Uncertain significance	rs200139062	RCV000645988;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330621	41330621	NC_000012.11:g.41330621G>A	ClinGen:CA6516768	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser)	1272	CNTN1	Uncertain significance	rs769193585	RCV001224062\|RCV001773506;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41330648	41330648	12:g.41330648C>T	-
NM_001843.4(CNTN1):c.1065A>G (p.Thr355=)	1272	CNTN1	Likely benign	-1	RCV002167669;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330662	41330662	41330662	-
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr)	1272	CNTN1	Uncertain significance	-1	RCV001363171;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330667	41330667	41330667	-
NM_001843.4(CNTN1):c.1074del (p.Ile359fs)	1272	CNTN1	Pathogenic	rs1592283787	RCV000811108;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330669	41330669	12:g.41330669_41330669del	-
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)	1272	CNTN1	Uncertain significance	-1	RCV002593247;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330675	41330675	NC_000012.11:g.41330675C>G	-
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln)	1272	CNTN1	Uncertain significance	rs769750595	RCV001217338;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330685	41330685	12:g.41330685G>A	-
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe)	1272	CNTN1	Uncertain significance	rs151126410	RCV000518584\|RCV000645984;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330692	41330692	12:g.41330692G>T	ClinGen:CA6516777	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp)	1272	CNTN1	Conflicting interpretations of pathogenicity	rs201534221	RCV001228987\|RCV002563155;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MeSH:D030342,MedGen:C0950123	12	41330696	41330696	12:g.41330696A>G	-
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val)	1272	CNTN1	Uncertain significance	-1	RCV001872954;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330706	41330706	41330706	-
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=)	1272	CNTN1	Uncertain significance	rs770501938	RCV000686653;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330707	41330707	NC_000012.11:g.41330707G>A	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1110+8T>A	1272	CNTN1	Uncertain significance	-1	RCV002862263;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330715	41330715	NC_000012.11:g.41330715T>A	-
NM_001843.4(CNTN1):c.1110+15G>A	1272	CNTN1	Likely benign	-1	RCV003069886;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41330722	41330722	NC_000012.11:g.41330722G>A	-
NM_001843.4(CNTN1):c.1111-7T>C	1272	CNTN1	Likely benign	-1	RCV001406393;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331365	41331365	41331365	-
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)	1272	CNTN1	Uncertain significance	-1	RCV002629505;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331377	41331377	NC_000012.11:g.41331377T>G	-
NM_001843.4(CNTN1):c.1122G>A (p.Gly374=)	1272	CNTN1	Likely benign	rs1457266738	RCV000935460\|RCV001505922;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331383	41331383	12:g.41331383G>A	-
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu)	1272	CNTN1	Uncertain significance	-1	RCV001872485;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331401	41331401	41331401	-
NM_001843.4(CNTN1):c.1158C>T (p.Ala386=)	1272	CNTN1	Likely benign	-1	RCV001406412;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331419	41331419	41331419	-
NM_001843.4(CNTN1):c.1185C>T (p.Asn395=)	1272	CNTN1	Likely benign	-1	RCV001458488;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331446	41331446	41331446	-
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys)	1272	CNTN1	Uncertain significance	rs1565989995	RCV000702220;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331451	41331451	NC_000012.11:g.41331451A>G	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1228+4A>G	1272	CNTN1	Uncertain significance	rs1183511907	RCV000805648;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331493	41331493	12:g.41331493A>G	-
NM_001843.4(CNTN1):c.1228+8T>C	1272	CNTN1	Likely benign	-1	RCV002957346;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331497	41331497	NC_000012.11:g.41331497T>C	-
NM_001843.4(CNTN1):c.1228+10A>G	1272	CNTN1	Likely benign	-1	RCV002894992;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41331499	41331499	NC_000012.11:g.41331499A>G	-
NM_001843.4(CNTN1):c.1229-8del	1272	CNTN1	Likely benign	rs754948008	RCV000915110\|RCV001432787;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333129	41333129	12:g.41333129_41333129del	-
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val)	1272	CNTN1	Uncertain significance	-1	RCV001879011;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333137	41333137	41333137	-
NM_001843.4(CNTN1):c.1230G>A (p.Ala410=)	1272	CNTN1	Likely benign	-1	RCV001474252;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333138	41333138	41333138	-
NM_001843.4(CNTN1):c.1239A>G (p.Pro413=)	1272	CNTN1	Likely benign	-1	RCV002194030;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333147	41333147	41333147	-
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val)	1272	CNTN1	Uncertain significance	rs1946186464	RCV001218465;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333157	41333157	12:g.41333157A>G	-
NM_001843.4(CNTN1):c.1251G>T (p.Met417Ile)	1272	CNTN1	Likely benign	rs145510600	RCV000547638\|RCV001698139;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41333159	41333159	12:g.41333159G>T	ClinGen:CA6516822	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr)	1272	CNTN1	Uncertain significance	rs758774084	RCV001248698;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333163	41333163	12:g.41333163C>A	-
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)	1272	CNTN1	Uncertain significance	-1	RCV002982462;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333166	41333166	NC_000012.11:g.41333166A>G	-
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)	1272	CNTN1	Uncertain significance	-1	RCV002917584;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333167	41333167	NC_000012.11:g.41333167T>C	-
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr)	1272	CNTN1	Uncertain significance	rs1269192212	RCV001301697;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333179	41333179	41333179	-
NM_001843.4(CNTN1):c.1275G>C (p.Leu425=)	1272	CNTN1	Likely benign	-1	RCV002174756;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333183	41333183	41333183	-
NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly)	1272	CNTN1	Likely benign	rs141706688	RCV000526090;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333188	41333188	12:g.41333188C>G	ClinGen:CA6516829	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1281T>C (p.Ala427=)	1272	CNTN1	Likely benign	rs536609686	RCV000645994;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333189	41333189	12:g.41333189T>C	ClinGen:CA6516830	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys)	1272	CNTN1	Uncertain significance	-1	RCV001981860;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333193	41333193	41333193	-
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys)	1272	CNTN1	Uncertain significance	-1	RCV001363589;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333200	41333200	41333200	-
NM_001843.4(CNTN1):c.1294G>A (p.Val432Met)	1272	CNTN1	Likely benign	rs778897121	RCV001218943;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333202	41333202	12:g.41333202G>A	-
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu)	1272	CNTN1	Uncertain significance	rs748101740	RCV000823947;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333223	41333223	12:g.41333223A>G	-
NM_001843.4(CNTN1):c.1323A>G (p.Ala441=)	1272	CNTN1	Likely benign	-1	RCV002092592;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333231	41333231	41333231	-
NM_001843.4(CNTN1):c.1326G>A (p.Pro442=)	1272	CNTN1	Likely benign	rs1382743416	RCV002547213;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333234	41333234	12:g.41333234G>A	-
NM_001843.4(CNTN1):c.1341A>G (p.Ser447=)	1272	CNTN1	Likely benign	-1	RCV001467343;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333249	41333249	41333249	-
NM_001843.4(CNTN1):c.1356A>G (p.Thr452=)	1272	CNTN1	Likely benign	-1	RCV001483385;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333264	41333264	41333264	-
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly)	1272	CNTN1	Uncertain significance	-1	RCV002033323;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333266	41333266	41333266	-
NM_001843.4(CNTN1):c.1365T>G (p.Leu455=)	1272	CNTN1	Likely benign	rs1311329019	RCV000928193\|RCV001447094;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333273	41333273	12:g.41333273T>G	-
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp)	1272	CNTN1	Uncertain significance	rs138213139	RCV001240726;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41333277	41333277	12:g.41333277A>G	-
NM_001843.4(CNTN1):c.1380-18A>G	1272	CNTN1	Likely benign	-1	RCV002164622;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337381	41337381	41337381	-
NM_001843.4(CNTN1):c.1380-14T>G	1272	CNTN1	Likely benign	-1	RCV002182549;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337385	41337385	41337385	-
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu)	1272	CNTN1	Uncertain significance	-1	RCV001913411;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337400	41337400	41337400	-
NM_001843.4(CNTN1):c.1398T>C (p.Asp466_Gly467=)	1272	CNTN1	Likely benign	-1	RCV003115719;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337417	41337417	NC_000012.11:g.41337417T>C	-
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=)	1272	CNTN1	Benign/Likely benign	rs61759480	RCV000244615\|RCV000540672\|RCV001084073;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337420	41337420	12:g.41337420T>C	ClinGen:CA6516853	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del)	1272	CNTN1	Uncertain significance	-1	RCV001919433;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337432	41337434	41337431	-
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His)	1272	CNTN1	Uncertain significance	rs1946336293	RCV001220692;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337433	41337433	12:g.41337433A>C	-
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=)	1272	CNTN1	Benign	rs1056019	RCV000116765\|RCV001514082;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337435	41337435	12:g.41337435C>T	ClinGen:CA152438	CN169374 not specified;
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr)	1272	CNTN1	Uncertain significance	rs745586631	RCV000522566\|RCV001371586;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337461	41337461	12:g.41337461T>C	ClinGen:CA6516859	CN169374 not specified;
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His)	1272	CNTN1	Uncertain significance	-1	RCV001933513;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337463	41337463	41337463	-
NM_001843.4(CNTN1):c.1449A>G (p.Thr483=)	1272	CNTN1	Likely benign	rs763469800	RCV000980914\|RCV001445408;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337468	41337468	12:g.41337468A>G	-
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile)	1272	CNTN1	Uncertain significance	rs573923461	RCV000695236;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337485	41337485	NC_000012.11:g.41337485A>T	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs)	1272	CNTN1	Pathogenic	-1	RCV002999441;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337487	41337488	NC_000012.11:g.41337487AG[1]	-
NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn)	1272	CNTN1	Likely benign	rs201639044	RCV001042684;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337503	41337503	12:g.41337503G>A	-
NM_001843.4(CNTN1):c.1491A>T (p.Gly497_Thr498=)	1272	CNTN1	Likely benign	-1	RCV002595594;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337510	41337510	NC_000012.11:g.41337510A>T	-
NM_001843.4(CNTN1):c.1507+10T>C	1272	CNTN1	Likely benign	-1	RCV002584394;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337536	41337536	NC_000012.11:g.41337536T>C	-
NM_001843.4(CNTN1):c.1507+15G>T	1272	CNTN1	Likely benign	-1	RCV002734826;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337541	41337541	NC_000012.11:g.41337541G>T	-
NM_001843.4(CNTN1):c.1507+19G>T	1272	CNTN1	Benign/Likely benign	rs145594554	RCV000428881\|RCV002059782;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337545	41337545	12:g.41337545G>T	ClinGen:CA6516869	CN169374 not specified;
NM_001843.4(CNTN1):c.1508-16A>G	1272	CNTN1	Likely benign	-1	RCV002158202;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337781	41337781	41337781	-
NM_001843.4(CNTN1):c.1508-6A>G	1272	CNTN1	Likely benign	-1	RCV002909591;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337791	41337791	NC_000012.11:g.41337791A>G	-
NM_001843.4(CNTN1):c.1508-5T>C	1272	CNTN1	Likely benign	rs1241567657	RCV000902318\|RCV001408671;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337792	41337792	12:g.41337792T>C	-
NM_001843.4(CNTN1):c.1508-4A>G	1272	CNTN1	Likely benign	-1	RCV002585107;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337793	41337793	NC_000012.11:g.41337793A>G	-
NM_001843.4(CNTN1):c.1508-3T>C	1272	CNTN1	Uncertain significance	rs768212555	RCV000816267;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337794	41337794	12:g.41337794T>C	-
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala)	1272	CNTN1	Uncertain significance	rs199754941	RCV000524608;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337797	41337797	12:g.41337797A>C	ClinGen:CA6516881	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val)	1272	CNTN1	Uncertain significance	-1	RCV001901274;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337797	41337797	41337797	-
NM_001843.4(CNTN1):c.1515G>A (p.Thr505=)	1272	CNTN1	Likely benign	-1	RCV001466702;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337804	41337804	41337804	-
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser)	1272	CNTN1	Uncertain significance	rs973419081	RCV000807149;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337815	41337815	12:g.41337815T>C	-
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr)	1272	CNTN1	Uncertain significance	rs1167071121	RCV000793616;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337829	41337829	12:g.41337829G>A	-
NM_001843.4(CNTN1):c.1542C>T (p.Ala514=)	1272	CNTN1	Likely benign	-1	RCV002181644;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337831	41337831	41337831	-
NM_001843.4(CNTN1):c.1546A>G (p.Ile516Val)	1272	CNTN1	Likely benign	-1	RCV002194000;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337835	41337835	41337835	-
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=)	1272	CNTN1	Benign/Likely benign	rs201595623	RCV000875931\|RCV001585847;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41337852	41337852	12:g.41337852C>T	-
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)	1272	CNTN1	Uncertain significance	-1	RCV002795715;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337853	41337853	NC_000012.11:g.41337853G>A	-
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val)	1272	CNTN1	Uncertain significance	rs779551448	RCV001319637;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337872	41337872	41337872	-
NM_001843.4(CNTN1):c.1584G>A (p.Ala528=)	1272	CNTN1	Likely benign	-1	RCV001399439;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337873	41337873	41337873	-
NM_001843.4(CNTN1):c.1590T>C (p.Phe530_Asp531=)	1272	CNTN1	Likely benign	-1	RCV003116045;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337879	41337879	NC_000012.11:g.41337879T>C	-
NM_001843.4(CNTN1):c.1615del (p.Val539fs)	1272	CNTN1	Pathogenic	-1	RCV001985084;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337904	41337904	41337903	-
NM_001843.4(CNTN1):c.1626C>T (p.Phe542=)	1272	CNTN1	Likely benign	-1	RCV001469386;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337915	41337915	41337915	-
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp)	1272	CNTN1	Uncertain significance	rs773805932	RCV001247632;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337920	41337920	12:g.41337920G>A	-
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)	1272	CNTN1	Uncertain significance	-1	RCV002304274;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337920	41337920	41337920	-
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)	1272	CNTN1	Uncertain significance	-1	RCV003036695;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337925	41337925	NC_000012.11:g.41337925G>C	-
NM_001843.4(CNTN1):c.1641C>A (p.Ile547_Asp548=)	1272	CNTN1	Likely benign	-1	RCV003029726;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337930	41337930	NC_000012.11:g.41337930C>A	-
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn)	1272	CNTN1	Uncertain significance	-1	RCV002038698;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337931	41337931	41337931	-
NM_001843.4(CNTN1):c.1662T>A (p.Ile554=)	1272	CNTN1	Likely benign	-1	RCV001450684;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337951	41337951	41337951	-
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg)	1272	CNTN1	Uncertain significance	rs761803826	RCV001316584;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337953	41337953	41337953	-
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val)	1272	CNTN1	Uncertain significance	-1	RCV001889423;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337970	41337970	41337970	-
NM_001843.4(CNTN1):c.1683+1G>A	1272	CNTN1	Likely pathogenic	rs1555185778	RCV000539454;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41337973	41337973	12:g.41337973G>A	ClinGen:CA384425188	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe)	1272	CNTN1	Uncertain significance	-1	RCV001359323;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352923	41352923	41352923	-
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser)	1272	CNTN1	Uncertain significance	rs747622764	RCV001232178;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352926	41352926	12:g.41352926A>G	-
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln)	1272	CNTN1	Uncertain significance	rs142561108	RCV000533621;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352944	41352944	12:g.41352944G>A	ClinGen:CA6516918	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1719G>A (p.Ala573=)	1272	CNTN1	Likely benign	rs777069796	RCV000875482;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352951	41352951	12:g.41352951G>A	-
NM_001843.4(CNTN1):c.1722G>A (p.Gln574=)	1272	CNTN1	Likely benign	-1	RCV001394903;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352954	41352954	41352954	-
NM_001843.4(CNTN1):c.1723C>T (p.Leu575=)	1272	CNTN1	Likely benign	rs1009645260	RCV000935694\|RCV001422062;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352955	41352955	12:g.41352955C>T	-
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln)	1272	CNTN1	Uncertain significance	rs770173257	RCV001234556;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352963	41352963	12:g.41352963T>G	-
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys)	1272	CNTN1	Uncertain significance	-1	RCV001910716;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352971	41352971	41352971	-
NM_001843.4(CNTN1):c.1745C>T (p.Thr582Ile)	1272	CNTN1	Likely benign	rs374471716	RCV000950235;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352977	41352977	12:g.41352977C>T	-
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=)	1272	CNTN1	Conflicting interpretations of pathogenicity	rs768838928	RCV000503918\|RCV000871125;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352981	41352981	NC_000012.11:g.41352981C>T	ClinGen:CA6516926	CN169374 not specified;
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val)	1272	CNTN1	Uncertain significance	-1	RCV001981726;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352986	41352986	41352986	-
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)	1272	CNTN1	Uncertain significance	-1	RCV002594654;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352989	41352989	NC_000012.11:g.41352989A>G	-
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val)	1272	CNTN1	Uncertain significance	rs555223029	RCV001035246;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41352994	41352994	12:g.41352994A>G	-
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)	1272	CNTN1	Uncertain significance	-1	RCV002654924;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353021	41353021	NC_000012.11:g.41353021G>C	-
NM_001843.4(CNTN1):c.1800G>A (p.Val600=)	1272	CNTN1	Likely benign	rs1326033692	RCV000927080\|RCV002066054;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353032	41353032	12:g.41353032G>A	-
NM_001843.4(CNTN1):c.1804+5G>A	1272	CNTN1	Uncertain significance	-1	RCV002766096;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353041	41353041	NC_000012.11:g.41353041G>A	-
NM_001843.4(CNTN1):c.1804+7G>A	1272	CNTN1	Likely benign	rs751956205	RCV000914155\|RCV001455979;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353043	41353043	12:g.41353043G>A	-
NM_001843.4(CNTN1):c.1804+7G>C	1272	CNTN1	Likely benign	-1	RCV002104467;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353043	41353043	41353043	-
NM_001843.4(CNTN1):c.1804+16T>A	1272	CNTN1	Likely benign	-1	RCV003032659;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41353052	41353052	NC_000012.11:g.41353052T>A	-
NM_001843.4(CNTN1):c.1805-9354del	1272	CNTN1	Benign	rs544761896	RCV000988813;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41365346	41365346	12:g.41365346_41365346del	-
NM_001843.4(CNTN1):c.1805-14C>A	1272	CNTN1	Benign	rs10784981	RCV000252930\|RCV002058064;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374697	41374697	12:g.41374697C>A	ClinGen:CA6516987	CN169374 not specified;
NM_001843.4(CNTN1):c.1805-3C>T	1272	CNTN1	Uncertain significance	rs771301005	RCV000543684;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374708	41374708	12:g.41374708C>T	ClinGen:CA6516992	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser)	1272	CNTN1	Uncertain significance	rs1172211353	RCV001238840;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374719	41374719	12:g.41374719G>A	-
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp)	1272	CNTN1	Uncertain significance	rs767086250	RCV000501670\|RCV001857085;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374720	41374720	NC_000012.11:g.41374720G>A	ClinGen:CA6516993	CN169374 not specified;
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met)	1272	CNTN1	Uncertain significance	rs1592357953	RCV000794214;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374742	41374742	12:g.41374742A>G	-
NM_001843.4(CNTN1):c.1842C>T (p.Asp614=)	1272	CNTN1	Likely benign	rs371908420	RCV000553982\|RCV001432253;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374748	41374748	12:g.41374748C>T	ClinGen:CA6516996	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe)	1272	CNTN1	Uncertain significance	rs755364145	RCV001245909;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374770	41374770	12:g.41374770C>T	-
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)	1272	CNTN1	Uncertain significance	-1	RCV003059118;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374780	41374780	NC_000012.11:g.41374780G>T	-
NM_001843.4(CNTN1):c.1875C>T (p.Ser625=)	1272	CNTN1	Likely benign	rs765519666	RCV000941974\|RCV001502810;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374781	41374781	12:g.41374781C>T	-
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys)	1272	CNTN1	Uncertain significance	rs563858684	RCV001332045;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374782	41374782	41374782	-
NM_001843.4(CNTN1):c.1893T>C (p.His631=)	1272	CNTN1	Benign	rs2229929	RCV000116766\|RCV000555116;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374799	41374799	12:g.41374799T>C	ClinGen:CA152440	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn)	1272	CNTN1	Uncertain significance	rs199886411	RCV000698611;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374801	41374801	NC_000012.11:g.41374801G>A	-	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1907A>C (p.Lys636Thr)	1272	CNTN1	Likely benign	rs561403880	RCV000946073\|RCV001434045;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374813	41374813	12:g.41374813A>C	-
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=)	1272	CNTN1	Benign/Likely benign	rs61759481	RCV000872512\|RCV001722588;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41374817	41374817	12:g.41374817C>T	ClinGen:CA6517006	CN169374 not specified;
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala)	1272	CNTN1	Uncertain significance	-1	RCV001936332;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374818	41374818	41374818	-
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser)	1272	CNTN1	Uncertain significance	rs1555193694	RCV000532139;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374827	41374827	12:g.41374827A>T	ClinGen:CA384585975	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1932T>C (p.Ile644=)	1272	CNTN1	Likely benign	-1	RCV002149192;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374838	41374838	41374838	-
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu)	1272	CNTN1	Uncertain significance	rs1947806765	RCV001316868;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374854	41374854	41374854	-
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn)	1272	CNTN1	Uncertain significance	-1	RCV002031957;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374856	41374856	41374856	-
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=)	1272	CNTN1	Benign	rs2229930	RCV000116767\|RCV000547019;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374862	41374862	12:g.41374862A>G	ClinGen:CA152442	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.1963+10_1963+13del	1272	CNTN1	Likely benign	-1	RCV001423830;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41374876	41374879	41374875	-
NM_001843.4(CNTN1):c.1964-15A>C	1272	CNTN1	Likely benign	-1	RCV003002419;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386907	41386907	NC_000012.11:g.41386907A>C	-
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser)	1272	CNTN1	Uncertain significance	-1	RCV001950277;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386924	41386924	41386924	-
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser)	1272	CNTN1	Uncertain significance	rs1948132905	RCV001313466;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386954	41386954	41386954	-
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr)	1272	CNTN1	Uncertain significance	rs549628424	RCV000645986;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386960	41386960	12:g.41386960G>A	ClinGen:CA6517028	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met)	1272	CNTN1	Uncertain significance	-1	RCV001871490;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386963	41386963	41386963	-
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)	1272	CNTN1	Uncertain significance	-1	RCV002876959;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386993	41386993	NC_000012.11:g.41386993T>A	-
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys)	1272	CNTN1	Uncertain significance	rs1056153404	RCV001209211;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386996	41386996	12:g.41386996C>T	-
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His)	1272	CNTN1	Uncertain significance	rs770506056	RCV000490028\|RCV001050276;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386997	41386997	12:g.41386997G>A	ClinGen:CA6517031	CN169374 not specified;
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met)	1272	CNTN1	Uncertain significance	rs760051219	RCV001059266;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41386999	41386999	12:g.41386999G>A	-
NM_001843.4(CNTN1):c.2052C>T (p.Thr684=)	1272	CNTN1	Likely benign	-1	RCV001480892;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387010	41387010	41387010	-
NM_001843.4(CNTN1):c.2058A>T (p.Thr686=)	1272	CNTN1	Likely benign	rs1363409507	RCV000934086;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387016	41387016	12:g.41387016A>T	-
NM_001843.4(CNTN1):c.2058A>G (p.Thr686=)	1272	CNTN1	Likely benign	-1	RCV002127599;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387016	41387016	41387016	-
NM_001843.4(CNTN1):c.2059C>T (p.Leu687=)	1272	CNTN1	Likely benign	-1	RCV002128677;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387017	41387017	41387017	-
NM_001843.4(CNTN1):c.2076C>G (p.Pro692=)	1272	CNTN1	Likely benign	rs1236135316	RCV000922011\|RCV001489703;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387034	41387034	12:g.41387034C>G	-
NM_001843.4(CNTN1):c.2081T>C (p.Ile694Thr)	1272	CNTN1	Likely benign	rs144933003	RCV001220281;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387039	41387039	12:g.41387039T>C	-
NM_001843.4(CNTN1):c.2106C>T (p.Asp702=)	1272	CNTN1	Likely benign	-1	RCV001478124;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387064	41387064	41387064	-
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser)	1272	CNTN1	Uncertain significance	rs370161709	RCV001040525;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387065	41387065	12:g.41387065G>A	-
NM_001843.4(CNTN1):c.2113+7A>G	1272	CNTN1	Likely benign	-1	RCV003058746;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41387078	41387078	NC_000012.11:g.41387078A>G	-
NM_001843.4(CNTN1):c.2114-20T>C	1272	CNTN1	Likely benign	rs896908779	RCV000603578\|RCV002063958;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408010	41408010	12:g.41408010T>C	ClinGen:CA235947412	CN169374 not specified;
NC_000012.11:g.(?_41408010)_(41423041_?)del	1272	CNTN1	Uncertain significance	-1	RCV003107485;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408010	41423041		-
NM_001843.4(CNTN1):c.2114-19A>G	1272	CNTN1	Likely benign	-1	RCV002701148;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408011	41408011	NC_000012.11:g.41408011A>G	-
NM_001843.4(CNTN1):c.2114-17T>G	1272	CNTN1	Likely benign	rs1555199184	RCV000600559\|RCV002063312;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408013	41408013	12:g.41408013T>G	ClinGen:CA658797875	CN169374 not specified;
NM_001843.4(CNTN1):c.2139A>G (p.Val713_Gly714=)	1272	CNTN1	Likely benign	-1	RCV003021051;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408055	41408055	NC_000012.11:g.41408055A>G	-
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)	1272	CNTN1	Uncertain significance	-1	RCV002967071;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408056	41408056	NC_000012.11:g.41408056G>C	-
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)	1272	CNTN1	Uncertain significance	-1	RCV002299177;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408060	41408060	41408060	-
NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg)	1272	CNTN1	Likely benign	-1	RCV002780284;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408062	41408062	NC_000012.11:g.41408062G>A	-
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)	1272	CNTN1	Uncertain significance	-1	RCV003020146;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408069	41408069	NC_000012.11:g.41408069G>A	-
NM_001843.4(CNTN1):c.2163A>G (p.Arg721=)	1272	CNTN1	Likely benign	-1	RCV002135485;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408079	41408079	41408079	-
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)	1272	CNTN1	Uncertain significance	-1	RCV002647995;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408083	41408083	NC_000012.11:g.41408083C>G	-
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val)	1272	CNTN1	Uncertain significance	rs201782849	RCV001231238;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408099	41408099	12:g.41408099C>T	-
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu)	1272	CNTN1	Uncertain significance	-1	RCV001968136;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408099	41408099	41408099	-
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=)	1272	CNTN1	Uncertain significance	rs764189993	RCV001046743;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408100	41408100	12:g.41408100G>A	-
NM_001843.4(CNTN1):c.2184+10G>A	1272	CNTN1	Likely benign	rs1234947673	RCV000535471;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41408110	41408110	12:g.41408110G>A	ClinGen:CA604651321	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2185-6A>G	1272	CNTN1	Likely benign	-1	RCV003013317;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410478	41410478	NC_000012.11:g.41410478A>G	-
NM_001843.4(CNTN1):c.2188T>C (p.Leu730=)	1272	CNTN1	Likely benign	rs778218297	RCV000920373\|RCV001439053;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410487	41410487	12:g.41410487T>C	-
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)	1272	CNTN1	Uncertain significance	-1	RCV002828390;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410545	41410545	NC_000012.11:g.41410545T>G	-
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu)	1272	CNTN1	Uncertain significance	rs1948790119	RCV001340859;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410551	41410551	41410551	-
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs)	1272	CNTN1	Pathogenic	-1	RCV002949395;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410570	41410571	NC_000012.11:g.41410570CA[1]	-
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser)	1272	CNTN1	Uncertain significance	rs566695601	RCV000546658;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410583	41410583	12:g.41410583C>T	ClinGen:CA6517099	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)	1272	CNTN1	Uncertain significance	-1	RCV002575763;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410584	41410584	NC_000012.11:g.41410584C>G	-
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp)	1272	CNTN1	Uncertain significance	rs1555199605	RCV000556929;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410593	41410593	12:g.41410593G>A	ClinGen:CA384586850	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln)	1272	CNTN1	Uncertain significance	rs267603461	RCV001302238;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410596	41410596	41410596	-
NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu)	1272	CNTN1	Likely benign	-1	RCV002938144;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410596	41410596	NC_000012.11:g.41410596G>T	-
NM_001843.4(CNTN1):c.2301T>C (p.Tyr767=)	1272	CNTN1	Likely benign	rs760428485	RCV000909863;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410600	41410600	12:g.41410600T>C	-
NM_001843.4(CNTN1):c.2304C>T (p.Val768=)	1272	CNTN1	Likely benign	-1	RCV001994823;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410603	41410603	41410603	-
NM_001843.4(CNTN1):c.2307T>C (p.His769=)	1272	CNTN1	Likely benign	-1	RCV001478644;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410606	41410606	41410606	-
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn)	1272	CNTN1	Benign	rs34326474	RCV000116768\|RCV000535101;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410623	41410623	12:g.41410623G>A	ClinGen:CA152444	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)	1272	CNTN1	Uncertain significance	-1	RCV002796471;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410623	41410623	NC_000012.11:g.41410623G>T	-
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg)	1272	CNTN1	Uncertain significance	-1	RCV001963851;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410624	41410624	41410624	-
NM_001843.4(CNTN1):c.2326C>T (p.Pro776Ser)	1272	CNTN1	Likely benign	rs199833589	RCV001231411;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410625	41410625	12:g.41410625C>T	-
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp)	1272	CNTN1	Uncertain significance	-1	RCV001910022;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410664	41410664	41410664	-
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr)	1272	CNTN1	Uncertain significance	rs771483189	RCV000811732;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410668	41410668	12:g.41410668A>C	-
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val)	1272	CNTN1	Uncertain significance	rs1250582749	RCV000814658;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410674	41410674	12:g.41410674A>T	-
NM_001843.4(CNTN1):c.2382T>A (p.Pro794=)	1272	CNTN1	Likely benign	-1	RCV002098804;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410681	41410681	41410681	-
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr)	1272	CNTN1	Uncertain significance	rs1004191780	RCV001321195;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410694	41410694	41410694	-
NM_001843.4(CNTN1):c.2418C>T (p.Asp806_Ala807=)	1272	CNTN1	Uncertain significance	-1	RCV002625736;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410717	41410717	NC_000012.11:g.41410717C>T	-
NM_001843.4(CNTN1):c.2419+21_2419+23del	1272	CNTN1	Likely benign	-1	RCV002102132;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41410736	41410738	41410735	-
NM_001843.4(CNTN1):c.2420-13C>T	1272	CNTN1	Likely benign	-1	RCV002081395;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414126	41414126	41414126	-
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr)	1272	CNTN1	Uncertain significance	rs537681547	RCV001057137;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414145	41414145	12:g.41414145G>C	-
NM_001843.4(CNTN1):c.2448T>C (p.Gly816=)	1272	CNTN1	Likely benign	-1	RCV001447945;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414167	41414167	41414167	-
NM_001843.4(CNTN1):c.2454A>G (p.Lys818_Val819=)	1272	CNTN1	Likely benign	-1	RCV003048315;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414173	41414173	NC_000012.11:g.41414173A>G	-
NM_001843.4(CNTN1):c.2493T>C (p.His831=)	1272	CNTN1	Benign/Likely benign	rs61754102	RCV000116769\|RCV000550005;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414212	41414212	12:g.41414212T>C	ClinGen:CA152446	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly)	1272	CNTN1	Uncertain significance	rs780316987	RCV001302430;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414214	41414214	41414214	-
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala)	1272	CNTN1	Uncertain significance	-1	RCV002037104;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414214	41414214	41414214	-
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser)	1272	CNTN1	Uncertain significance	rs1205621429	RCV000528142;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414217	41414217	12:g.41414217T>C	ClinGen:CA384587303	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer)	1272	CNTN1	Pathogenic	rs1592415275	RCV000807301;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414220	41414220	12:g.41414220_41414220del	-
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)	1272	CNTN1	Uncertain significance	-1	RCV002805285;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414229	41414229	NC_000012.11:g.41414229T>G	-
NM_001843.4(CNTN1):c.2523+4C>T	1272	CNTN1	Likely benign	rs74076940	RCV000876271\|RCV001555466;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41414246	41414246	12:g.41414246C>T	-
NM_001843.4(CNTN1):c.2523+5G>A	1272	CNTN1	Uncertain significance	-1	RCV002620630;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414247	41414247	NC_000012.11:g.41414247G>A	-
NM_001843.4(CNTN1):c.2523+12T>C	1272	CNTN1	Likely benign	-1	RCV002084195;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41414254	41414254	41414254	-
NM_001843.4(CNTN1):c.2524-11A>T	1272	CNTN1	Likely benign	-1	RCV002071633;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418941	41418941	41418941	-
NM_001843.4(CNTN1):c.2524-9T>C	1272	CNTN1	Likely benign	-1	RCV003028404;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418943	41418943	NC_000012.11:g.41418943T>C	-
NM_001843.4(CNTN1):c.2524-6T>C	1272	CNTN1	Likely benign	-1	RCV001452596;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418946	41418946	41418946	-
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val)	1272	CNTN1	Uncertain significance	-1	RCV001936848;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418952	41418952	41418952	-
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp)	1272	CNTN1	Uncertain significance	rs1168401868	RCV001303800;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418955	41418955	41418955	-
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His)	1272	CNTN1	Uncertain significance	rs781106271	RCV001302011;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418958	41418958	41418958	-
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val)	1272	CNTN1	Uncertain significance	-1	RCV001359747;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418965	41418965	41418965	-
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro)	1272	CNTN1	Uncertain significance	-1	RCV001955133;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418971	41418971	41418971	-
NM_001843.4(CNTN1):c.2553A>G (p.Glu851=)	1272	CNTN1	Likely benign	rs150210369	RCV000250357\|RCV002058065;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41418981	41418981	NC_000012.11:g.41418981A>G	ClinGen:CA6517179	CN169374 not specified;
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu)	1272	CNTN1	Uncertain significance	-1	RCV002003204;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419022	41419022	41419022	-
NM_001843.4(CNTN1):c.2595G>C (p.Ser865=)	1272	CNTN1	Likely benign	rs145714777	RCV000969911\|RCV001455946;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419023	41419023	12:g.41419023G>C	-
NM_001843.4(CNTN1):c.2595G>A (p.Ser865=)	1272	CNTN1	Likely benign	rs145714777	RCV000983524;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419023	41419023	12:g.41419023G>A	-
NM_001843.4(CNTN1):c.2597_2710+7delinsTT	1272	CNTN1	Likely pathogenic	-1	RCV002033339;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419025	41419145	41419025	-
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=)	1272	CNTN1	Benign/Likely benign	rs140462332	RCV000253907\|RCV000645993\|RCV001705356;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41419026	41419026	12:g.41419026C>G	ClinGen:CA6517188	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2604C>T (p.Leu868=)	1272	CNTN1	Likely benign	rs145610308	RCV000877081;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419032	41419032	12:g.41419032C>T	-
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)	1272	CNTN1	Uncertain significance	-1	RCV002776466\|RCV002791041;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MeSH:D030342,MedGen:C0950123	12	41419033	41419033	NC_000012.11:g.41419033G>A	-
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)	1272	CNTN1	Uncertain significance	-1	RCV002999091;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419048	41419048	NC_000012.11:g.41419048G>C	-
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu)	1272	CNTN1	Uncertain significance	-1	RCV001927128;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419054	41419054	41419054	-
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs)	1272	CNTN1	Pathogenic	-1	RCV001942255;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419057	41419061	41419056	-
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg)	1272	CNTN1	Conflicting interpretations of pathogenicity	rs138121813	RCV000487172\|RCV001205215;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419072	41419072	12:g.41419072G>A	ClinGen:CA6517196	CN169374 not specified;
NM_001843.4(CNTN1):c.2664G>T (p.Gly888_Cys889=)	1272	CNTN1	Likely benign	-1	RCV002700781;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419092	41419092	NC_000012.11:g.41419092G>T	-
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=)	1272	CNTN1	Benign	rs34346038	RCV000116770\|RCV000533886;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419098	41419098	12:g.41419098A>T	ClinGen:CA152448	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu)	1272	CNTN1	Uncertain significance	-1	RCV001917919;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419111	41419111	41419111	-
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr)	1272	CNTN1	Uncertain significance	rs771657279	RCV000482604\|RCV001347441;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419115	41419115	12:g.41419115T>C	ClinGen:CA6517199	CN169374 not specified;
NM_001843.4(CNTN1):c.2694T>C (p.Ala898=)	1272	CNTN1	Likely benign	rs1555200914	RCV000601093\|RCV002531580;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419122	41419122	12:g.41419122T>C	ClinGen:CA479351273	CN169374 not specified;
NM_001843.4(CNTN1):c.2710+12G>A	1272	CNTN1	Likely benign	-1	RCV002633289;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419150	41419150	NC_000012.11:g.41419150G>A	-
NM_001843.4(CNTN1):c.2710+20T>C	1272	CNTN1	Likely benign	-1	RCV002663886;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41419158	41419158	NC_000012.11:g.41419158T>C	-
NM_001843.4(CNTN1):c.2711-19A>G	1272	CNTN1	Likely benign	-1	RCV003112069;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421640	41421640	NC_000012.11:g.41421640A>G	-
NM_001843.4(CNTN1):c.2711-17A>G	1272	CNTN1	Benign	rs12367345	RCV000250886\|RCV002058066;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421642	41421642	12:g.41421642A>G	ClinGen:CA6517214	CN169374 not specified;
NM_001843.4(CNTN1):c.2711-11A>G	1272	CNTN1	Likely benign	-1	RCV002675485;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421648	41421648	NC_000012.11:g.41421648A>G	-
NM_001843.4(CNTN1):c.2712T>C (p.Pro904_Pro905=)	1272	CNTN1	Likely benign	-1	RCV002635506;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421660	41421660	NC_000012.11:g.41421660T>C	-
NM_001843.4(CNTN1):c.2721G>A (p.Gln907=)	1272	CNTN1	Likely benign	-1	RCV001482301;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421669	41421669	41421669	-
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)	1272	CNTN1	Uncertain significance	-1	RCV003057710;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421673	41421673	NC_000012.11:g.41421673C>G	-
NM_001843.4(CNTN1):c.2727A>C (p.Pro909_Arg910=)	1272	CNTN1	Likely benign	-1	RCV002886436;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421675	41421675	NC_000012.11:g.41421675A>C	-
NM_001843.4(CNTN1):c.2730G>A (p.Arg910_Ile911=)	1272	CNTN1	Likely benign	-1	RCV002686290;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421678	41421678	NC_000012.11:g.41421678G>A	-
NM_001843.4(CNTN1):c.2751T>C (p.Ser917_Gly918=)	1272	CNTN1	Likely benign	-1	RCV002958437;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421699	41421699	NC_000012.11:g.41421699T>C	-
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)	1272	CNTN1	Uncertain significance	-1	RCV002971890;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421706	41421706	NC_000012.11:g.41421706C>T	-
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His)	1272	CNTN1	Uncertain significance	-1	RCV001974807;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421707	41421707	41421707	-
NM_001843.4(CNTN1):c.2772C>G (p.Thr924_Trp925=)	1272	CNTN1	Likely benign	-1	RCV002635507;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421720	41421720	NC_000012.11:g.41421720C>G	-
NM_001843.4(CNTN1):c.2784C>T (p.Val928=)	1272	CNTN1	Likely benign	-1	RCV002211919;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421732	41421732	41421732	-
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile)	1272	CNTN1	Benign	rs148239965	RCV000242619\|RCV000548504\|RCV001594903;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41421733	41421733	12:g.41421733G>A	ClinGen:CA6517234	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser)	1272	CNTN1	Uncertain significance	rs756665946	RCV001051044;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421736	41421736	12:g.41421736G>T	-
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter)	1272	CNTN1	Pathogenic	rs1555201269	RCV000526899;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421743	41421743	12:g.41421743C>A	ClinGen:CA384587984	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2805T>A (p.Ser935=)	1272	CNTN1	Likely benign	-1	RCV002187965;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421753	41421753	41421753	-
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met)	1272	CNTN1	Uncertain significance	rs141213968	RCV001041641;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421761	41421761	12:g.41421761C>T	-
NM_001843.4(CNTN1):c.2814G>A (p.Thr938=)	1272	CNTN1	Likely benign	-1	RCV002122266;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421762	41421762	41421762	-
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val)	1272	CNTN1	Uncertain significance	-1	RCV001912314;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41421764	41421764	41421764	-
NM_001843.4(CNTN1):c.2823+5A>G	1272	CNTN1	Likely benign	rs148453314	RCV000645991\|RCV001567322;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202	12	41421776	41421776	NC_000012.11:g.41421776A>G	ClinGen:CA6517240	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2824-6T>C	1272	CNTN1	Likely benign	rs201098244	RCV000247811\|RCV001206838;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422859	41422859	12:g.41422859T>C	ClinGen:CA6517253	CN169374 not specified;
NM_001843.4(CNTN1):c.2826A>T (p.Val942=)	1272	CNTN1	Likely benign	-1	RCV001483927;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422867	41422867	41422867	-
NM_001843.4(CNTN1):c.2853T>C (p.Asp951=)	1272	CNTN1	Likely benign	-1	RCV001468546;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422894	41422894	41422894	-
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)	1272	CNTN1	Uncertain significance	-1	RCV002829711;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422895	41422895	NC_000012.11:g.41422895G>A	-
NM_001843.4(CNTN1):c.2880C>T (p.His960=)	1272	CNTN1	Likely benign	-1	RCV001396158;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422921	41422921	41422921	-
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)	1272	CNTN1	Uncertain significance	-1	RCV003058596;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422937	41422937	NC_000012.11:g.41422937A>G	-
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly)	1272	CNTN1	Uncertain significance	rs1592428509	RCV000819345;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422947	41422947	12:g.41422947A>G	-
NM_001843.4(CNTN1):c.2916C>T (p.Tyr972=)	1272	CNTN1	Likely benign	-1	RCV002157721;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422957	41422957	41422957	-
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile)	1272	CNTN1	Uncertain significance	rs768847583	RCV001070673;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422958	41422958	12:g.41422958G>A	-
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter)	1272	CNTN1	Pathogenic	rs1555201480	RCV000645985;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422964	41422964	NC_000012.11:g.41422964G>T	ClinGen:CA384588280	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2928T>C (p.Val976=)	1272	CNTN1	Likely benign	-1	RCV002095885;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422969	41422969	41422969	-
NM_001843.4(CNTN1):c.2929C>T (p.Arg977Cys)	1272	CNTN1	Benign	rs150734960	RCV000542690;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422970	41422970	12:g.41422970C>T	ClinGen:CA6517265	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)	1272	CNTN1	Uncertain significance	-1	RCV002625278;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422971	41422971	NC_000012.11:g.41422971G>A	-
NM_001843.4(CNTN1):c.2931C>T (p.Arg977=)	1272	CNTN1	Likely benign	-1	RCV001421112;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422972	41422972	41422972	-
NM_001843.4(CNTN1):c.2934G>A (p.Ala978=)	1272	CNTN1	Likely benign	rs760832587	RCV000953937;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41422975	41422975	12:g.41422975G>A	-
NM_001843.4(CNTN1):c.2980+7G>A	1272	CNTN1	Likely benign	rs969185163	RCV000645992\|RCV001406922;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41423028	41423028	12:g.41423028G>A	ClinGen:CA235948919	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.2980+19A>T	1272	CNTN1	Benign	rs181426756	RCV000250932\|RCV002058067;	N	MedGen:CN169374\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41423040	41423040	12:g.41423040A>T	ClinGen:CA6517270	CN169374 not specified;
NM_001843.4(CNTN1):c.2981-18T>C	1272	CNTN1	Likely benign	-1	RCV002083487;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463743	41463743	41463743	-
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr)	1272	CNTN1	Uncertain significance	rs143416044	RCV001221336\|RCV001551153\|RCV002563017;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	12	41463763	41463763	12:g.41463763G>A	-
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser)	1272	CNTN1	Uncertain significance	-1	RCV002006729;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463778	41463778	41463778	-
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)	1272	CNTN1	Uncertain significance	-1	RCV002851317;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463782	41463782	NC_000012.11:g.41463782G>A	-
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser)	1272	CNTN1	Uncertain significance	rs745975456	RCV001055220;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463790	41463790	12:g.41463790G>A	-
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu)	1272	CNTN1	Uncertain significance	-1	RCV001904584;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463803	41463803	41463803	-
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser)	1272	CNTN1	Uncertain significance	rs200796487	RCV000520234\|RCV000696589;	N	MedGen:CN517202\|MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463811	41463811	12:g.41463811G>A	ClinGen:CA6517292	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe)	1272	CNTN1	Uncertain significance	rs201778720	RCV000552758;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463817	41463817	12:g.41463817C>T	ClinGen:CA6517293	C2675527 612540 Myopathy, congenital, compton-north;
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser)	1272	CNTN1	Uncertain significance	-1	RCV001944133;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463827	41463827	41463827	-
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala)	1272	CNTN1	Uncertain significance	-1	RCV001867822;	N	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540, Orphanet:210163	12	41463830	41463830	41463830	-

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