ClinVar for MedGen (Select 482156) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248539	NM_002465.4(MYBPC1):c.995G>A (p.Arg332Lys)	LOC105369937, MYBPC1 (R262K +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 1801331	NM_002465.4(MYBPC1):c.793C>G (p.Arg265Gly)	MYBPC1 (R195G +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GLikely pathogenic
Select item 1277918	NM_002465.4(MYBPC1):c.1633+33T>C	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +3 more	GBenign
Select item 1276920	NM_002465.4(MYBPC1):c.3492+39C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +3 more	GBenign
Select item 1228372	NM_002465.4(MYBPC1):c.288del (p.Gly97fs)	MYBPC1 (G46fs +4 more)	Deletion (frameshift variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 1228159	NM_002465.4(MYBPC1):c.2222-38T>C	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +3 more	GBenign
Select item 1211435	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	MYBPC1 (R108Q +4 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +3 more	GUncertain significance
Select item 884161	NM_002465.4(MYBPC1):c.142+10A>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 884160	NM_002465.4(MYBPC1):c.104-10C>A	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 883343	NM_002465.4(MYBPC1):c.*169G>T	MYBPC1	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign
Select item 882563	NM_002465.4(MYBPC1):c.3405G>T (p.Val1135=)	MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related disorder +1 more	GLikely benign
Select item 882562	NM_002465.4(MYBPC1):c.3013G>A (p.Gly1005Arg)	MYBPC1 (G980R +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 882508	NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val)	MYBPC1 (I431V +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 882507	NM_002465.4(MYBPC1):c.1399C>G (p.Gln467Glu)	MYBPC1 (Q416E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 882506	NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly)	LOC105369937, MYBPC1 (R388G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 882505	NM_002465.4(MYBPC1):c.1234T>C (p.Ser412Pro)	MYBPC1, LOC105369937 (S374P +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 882295	NM_002465.4(MYBPC1):c.2785G>A (p.Ala929Thr)	MYBPC1 (A891T +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 882294	NM_002465.4(MYBPC1):c.2776G>A (p.Val926Met)	MYBPC1 (V882M +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 882293	NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys)	MYBPC1 (R809C +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 882252	NM_002465.4(MYBPC1):c.1148G>C (p.Arg383Thr)	LOC105369937, MYBPC1 (R332T +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 880937	NM_002465.4(MYBPC1):c.2303A>T (p.His768Leu)	MYBPC1 (H768L +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 880936	NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 880935	NM_002465.4(MYBPC1):c.2153G>A (p.Arg718His)	MYBPC1 (R681H +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 880934	NM_002465.4(MYBPC1):c.2033-9T>A	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 880877	NM_002465.4(MYBPC1):c.290-10C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 592090	NM_002465.4(MYBPC1):c.3224G>A (p.Cys1075Tyr)	MYBPC1 (C1068Y +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306757	NM_002465.4(MYBPC1):c.*317C>A	MYBPC1	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 306756	NM_002465.4(MYBPC1):c.*277T>C	MYBPC1	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306753	NM_002465.4(MYBPC1):c.*144C>G	MYBPC1	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306752	NM_002465.4(MYBPC1):c.*78G>A	MYBPC1	Single nucleotide variant (3 prime UTR variant +1 more)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 306751	NM_002465.4(MYBPC1):c.*45C>T	MYBPC1 (S1166F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 306750	NM_002465.4(MYBPC1):c.*19+3A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 306749	NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306748	NM_002465.4(MYBPC1):c.3262A>T (p.Met1088Leu)	MYBPC1 (M1088L +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306747	NM_002465.4(MYBPC1):c.2908A>C (p.Ile970Leu)	MYBPC1 (I970L +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306746	NM_002465.4(MYBPC1):c.2579T>C (p.Val860Ala)	MYBPC1 (V860A +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +1 more	GUncertain significance
Select item 306745	NM_002465.4(MYBPC1):c.2522T>C (p.Ile841Thr)	MYBPC1 (I841T +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +1 more	GConflicting classifications of pathogenicity
Select item 306744	NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 306743	NM_002465.4(MYBPC1):c.2439C>T (p.Ile813=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306742	NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306740	NM_002465.4(MYBPC1):c.2124G>A (p.Lys708=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GLikely benign
Select item 306739	NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +1 more	GBenign
Select item 306735	NM_002465.4(MYBPC1):c.1703T>C (p.Leu568Pro)	MYBPC1 (L568P +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306734	NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 306733	NM_002465.4(MYBPC1):c.1553C>T (p.Ala518Val)	MYBPC1 (A518V +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306732	NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln)	MYBPC1 (P486Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 306730	NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys)	LOC105369937, MYBPC1 (R417K +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 306728	NM_002465.4(MYBPC1):c.750C>A (p.Ile250=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 306727	NM_002465.4(MYBPC1):c.675G>A (p.Lys225=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306725	NM_002465.4(MYBPC1):c.608+14A>G	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +3 more	GBenign/Likely benign
Select item 306724	NM_002465.4(MYBPC1):c.557-10C>T	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 306722	NM_002465.4(MYBPC1):c.556+9G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 306721	NM_002465.4(MYBPC1):c.438+9C>G	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +1 more	GBenign
Select item 306720	NM_002465.4(MYBPC1):c.309A>T (p.Ile103=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 306719	NM_002465.4(MYBPC1):c.192C>T (p.Val64=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign
Select item 306718	NM_002465.4(MYBPC1):c.178+7G>A	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 306707	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)	MYBPC1 (K6M)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +1 more	GBenign/Likely benign
Select item 306706	NM_002465.4(MYBPC1):c.-13T>C	MYBPC1	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 306705	NM_002465.4(MYBPC1):c.-46C>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 306704	NM_002465.4(MYBPC1):c.-75G>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 306703	NM_002465.4(MYBPC1):c.-93C>T	MYBPC1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 258664	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 258663	NM_002465.4(MYBPC1):c.2809+12T>C	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 258662	NM_002465.4(MYBPC1):c.26-9C>T	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 258660	NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala)	MYBPC1 (V64A +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	not specified +4 more	GBenign
Select item 211546	NM_002465.4(MYBPC1):c.608+9A>G	MYBPC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 211545	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 211543	NM_002465.4(MYBPC1):c.129C>T (p.Ser43=)	MYBPC1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129647	NM_002465.4(MYBPC1):c.774C>T (p.Asp258=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 129646	NM_002465.4(MYBPC1):c.556+10C>G	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 129645	NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 129644	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	MYBPC1	Single nucleotide variant (synonymous variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 129643	NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 129642	NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln)	MYBPC1 (H506Q +6 more)	Single nucleotide variant (missense variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 129641	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 29801	NM_002465.4(MYBPC1):c.2566T>C (p.Tyr856His)	MYBPC1 (Y856H +7 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GUncertain significance
Select item 29800	NM_002465.4(MYBPC1):c.706T>C (p.Trp236Arg)	MYBPC1 (W236R +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GPathogenic

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Items: 78