ClinVar for MedGen (Select 482156) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

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)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 1276920	NM_002465.4(MYBPC1):c.3492+39C>T	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor +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)	Myopathy, congenital, with tremor +3 more	GBenign
Select item 1211435	NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln)	MYBPC1 (R108Q +4 more)	Single nucleotide variant (missense variant)	not provided +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)	Arthrogryposis, distal, type 1B	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)	Arthrogryposis, distal, type 1B +3 more	GBenign
Select item 306751	NM_002465.4(MYBPC1):c.*45C>T	MYBPC1 (S1166F)	Single nucleotide variant (missense variant +2 more)	Arthrogryposis, distal, type 1B +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)	Arthrogryposis, distal, type 1B +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 +2 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)	Arthrogryposis, distal, type 1B +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 +2 more	GConflicting classifications of pathogenicity
Select item 306730	NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys)	MYBPC1, LOC105369937 (R417K +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +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)	not provided +3 more	GBenign/Likely benign
Select item 306724	NM_002465.4(MYBPC1):c.557-10C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B	GBenign
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)	not provided +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)	Arthrogryposis, distal, type 1B	GBenign
Select item 306707	NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met)	MYBPC1 (K6M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B	GBenign
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)	Arthrogryposis, distal, type 1B +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)	Arthrogryposis, distal, type 1B +2 more	GBenign/Likely benign
Select item 258663	NM_002465.4(MYBPC1):c.2809+12T>C	MYBPC1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 258662	NM_002465.4(MYBPC1):c.26-9C>T	MYBPC1	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1B +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 provided +2 more	GBenign
Select item 258658	NM_002465.4(MYBPC1):c.1634-18del	MYBPC1	Deletion (intron variant)	Myopathy, congenital, with tremor +4 more	GBenign
Select item 211546	NM_002465.4(MYBPC1):c.608+9A>G	MYBPC1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 211545	NM_002465.4(MYBPC1):c.594T>C (p.Ser198=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +4 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 specified +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)	not specified +4 more	GBenign
Select item 129644	NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +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)	not provided +4 more	GBenign
Select item 129641	NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 78