1272[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 1271001	NM_001843.4(CNTN1):c.-189C>A	CNTN1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1273799	NM_001843.4(CNTN1):c.-77+241A>G	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 145394	GRCh38/hg38 12q12(chr12:40892503-41334848)x3	CNTN1, LOC126861507 +2 more	Copy number gain	See cases	GUncertain significance
Select item 671822	NM_001843.4(CNTN1):c.-76-325T>G	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293333	NM_001843.4(CNTN1):c.-76-51C>G	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 469409	NC_000012.11:g.(?_41302215)_(41365335_?)dup	CNTN1	Duplication	Compton-North congenital myopathy	GUncertain significance
Select item 384607	NM_001843.4(CNTN1):c.-12A>G	CNTN1	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 2428436	NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)	CNTN1 (V7D)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2049688	NM_001843.4(CNTN1):c.21C>T (p.Val7=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1415620	NM_001843.4(CNTN1):c.27T>A (p.His9Gln)	CNTN1 (H9Q)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1008761	NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr)	CNTN1 (S14T)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1625468	NM_001843.4(CNTN1):c.42T>C (p.Ser14=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1027237	NM_001843.4(CNTN1):c.43A>G (p.Ile15Val)	CNTN1 (I15V)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2044129	NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)	CNTN1 (T17P)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 469424	NM_001843.4(CNTN1):c.54T>C (p.Cys18=)	CNTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2844497	NM_001843.4(CNTN1):c.56T>C (p.Leu19Ser)	CNTN1 (L19S)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GLikely benign
Select item 1036267	NM_001843.4(CNTN1):c.61+5G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GUncertain significance
Select item 2003826	NM_001843.4(CNTN1):c.61+11T>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1665768	NM_001843.4(CNTN1):c.61+16T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1198402	NM_001843.4(CNTN1):c.61+56G>A	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186439	NM_001843.4(CNTN1):c.61+74G>A	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679918	NM_001843.4(CNTN1):c.61+79A>C	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680305	NM_001843.4(CNTN1):c.61+129A>G	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206784	NM_001843.4(CNTN1):c.62-189C>T	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680155	NM_001843.4(CNTN1):c.62-50A>C	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991636	NM_001843.4(CNTN1):c.62-15T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1521481	NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly)	CNTN1 (E21G)	Single nucleotide variant (missense variant +1 more)	Compton-North congenital myopathy	GUncertain significance
Select item 1432053	NM_001843.4(CNTN1):c.62del (p.Glu21fs)	CNTN1 (E21fs)	Deletion (frameshift variant +1 more)	Compton-North congenital myopathy	GPathogenic
Select item 2085916	NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)	CNTN1 (T23I)	Single nucleotide variant (missense variant +1 more)	Compton-North congenital myopathy	GUncertain significance
Select item 1351698	NM_001843.4(CNTN1):c.82T>C (p.Tyr28His)	CNTN1 (Y28H)	Single nucleotide variant (missense variant +1 more)	Compton-North congenital myopathy	GUncertain significance
Select item 1649273	NM_001843.4(CNTN1):c.84T>C (p.Tyr28=)	CNTN1	Single nucleotide variant (synonymous variant +1 more)	Compton-North congenital myopathy	GLikely benign
Select item 258204	NM_001843.4(CNTN1):c.90T>C (p.His30=)	CNTN1	Single nucleotide variant (synonymous variant +1 more)	Compton-North congenital myopathy +2 more	GBenign
Select item 2875068	NM_001843.4(CNTN1):c.94+2T>C	CNTN1	Single nucleotide variant (splice donor variant +1 more)	Compton-North congenital myopathy	GLikely pathogenic
Select item 1923030	NM_001843.4(CNTN1):c.94+4A>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1625194	NM_001843.4(CNTN1):c.94+15G>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 671823	NM_001843.4(CNTN1):c.95-294G>A	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679919	NM_001843.4(CNTN1):c.95-76A>T	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 766410	NM_001843.4(CNTN1):c.95-7C>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2912592	NM_001843.4(CNTN1):c.95-5T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2075039	NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)	CNTN1 (D36G +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 1045489	NM_001843.4(CNTN1):c.131A>T (p.Glu44Val)	CNTN1 (E44V +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 537197	NM_001843.4(CNTN1):c.132A>G (p.Glu44=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 383252	NM_001843.4(CNTN1):c.147T>C (p.Asn49=)	CNTN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 858715	NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys)	CNTN1 (E43K +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1596096	NM_001843.4(CNTN1):c.168A>C (p.Ser56=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2335030	NM_001843.4(CNTN1):c.184T>G (p.Ser62Ala)	CNTN1 (S51A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325207	NM_001843.4(CNTN1):c.185C>T (p.Ser62Leu)	CNTN1 (S62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 705200	NM_001843.4(CNTN1):c.189C>T (p.Leu63=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1083893	NM_001843.4(CNTN1):c.201A>G (p.Ala67=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 620468	NM_001843.4(CNTN1):c.202C>T (p.Arg68Ter)	CNTN1 (R68* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1406048	NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln)	CNTN1 (R57Q +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 210737	NM_001843.4(CNTN1):c.207C>T (p.Ala69=)	CNTN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 568623	NM_001843.4(CNTN1):c.215dup (p.Val74fs)	CNTN1 (V74fs +1 more)	Duplication (frameshift variant)	Compton-North congenital myopathy	GPathogenic
Select item 1904248	NM_001843.4(CNTN1):c.216C>T (p.Phe72=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 643635	NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu)	CNTN1 (P62L +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1590720	NM_001843.4(CNTN1):c.219G>A (p.Pro73=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 2163651	NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)	CNTN1 (V63G +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1564655	NM_001843.4(CNTN1):c.225C>T (p.Tyr75=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 845905	NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg)	CNTN1 (K76R +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 3057569	NM_001843.4(CNTN1):c.227+7T>C	CNTN1	Single nucleotide variant (intron variant)	CNTN1-related disorder	GLikely benign
Select item 1109534	NM_001843.4(CNTN1):c.227+10C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2966393	NM_001843.4(CNTN1):c.227+12C>T	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 2963088	NM_001843.4(CNTN1):c.227+13G>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1671269	NM_001843.4(CNTN1):c.227+23dup	CNTN1	Duplication (intron variant)	Compton-North congenital myopathy	GBenign
Select item 2078193	NM_001843.4(CNTN1):c.227+20T>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1198772	NM_001843.4(CNTN1):c.227+69C>T	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957513	NM_001843.4(CNTN1):c.228-8del	CNTN1	Deletion (intron variant)	Compton-North congenital myopathy	GBenign
Select item 745369	NM_001843.4(CNTN1):c.228-5C>A	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 1000385	NM_001843.4(CNTN1):c.228-3_228-2del	CNTN1	Deletion (splice acceptor variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1575752	NM_001843.4(CNTN1):c.246G>A (p.Gly82=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 705600	NM_001843.4(CNTN1):c.246G>C (p.Gly82=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1615958	NM_001843.4(CNTN1):c.249C>T (p.Asp83=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1097005	NM_001843.4(CNTN1):c.252T>A (p.Val84=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1445185	NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly)	CNTN1 (S77G +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 645568	NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn)	CNTN1 (D89N +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 2126618	NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)	CNTN1 (R90* +1 more)	Single nucleotide variant (nonsense)	Compton-North congenital myopathy	GPathogenic
Select item 743162	NM_001843.4(CNTN1):c.268C>A (p.Arg90=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1938036	NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)	CNTN1 (R90Q +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 210738	NM_001843.4(CNTN1):c.271T>C (p.Tyr91His)	CNTN1 (Y91H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 423311	NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)	CNTN1 (M93T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2179956	NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)	CNTN1 (V94A +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 1314530	NM_001843.4(CNTN1):c.296T>C (p.Val99Ala)	CNTN1 (V88A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863171	NM_001843.4(CNTN1):c.304A>C (p.Asn102His)	CNTN1 (N102H +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 537190	NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg)	CNTN1 (K105R +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy +1 more	GUncertain significance
Select item 1151606	NM_001843.4(CNTN1):c.315A>G (p.Lys105=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 1502004	NM_001843.4(CNTN1):c.330A>T (p.Gly110=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GUncertain significance
Select item 515147	NM_001843.4(CNTN1):c.342T>C (p.Cys114=)	CNTN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1132525	NM_001843.4(CNTN1):c.348A>G (p.Ala116=)	CNTN1	Single nucleotide variant (synonymous variant)	Compton-North congenital myopathy	GLikely benign
Select item 665134	NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu)	CNTN1 (G122E +1 more)	Single nucleotide variant (missense variant)	Compton-North congenital myopathy	GUncertain significance
Select item 1625858	NM_001843.4(CNTN1):c.400+8A>C	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign
Select item 258200	NM_001843.4(CNTN1):c.400+13T>C	CNTN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 680308	NM_001843.4(CNTN1):c.400+151A>C	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208363	NM_001843.4(CNTN1):c.400+287G>C	CNTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679921	NM_001843.4(CNTN1):c.401-190G>T	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679920	NM_001843.4(CNTN1):c.401-94C>T	CNTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258201	NM_001843.4(CNTN1):c.401-14del	CNTN1	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1597498	NM_001843.4(CNTN1):c.401-17T>G	CNTN1	Single nucleotide variant (intron variant)	Compton-North congenital myopathy	GLikely benign

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