Related gene-specific medical variations for Gene (Select 4604) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337340	NM_002465.4(MYBPC1):c.1054G>A (p.Gly352Ser)	LOC105369937, MYBPC1 (G282S +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 3153677	NM_002465.4(MYBPC1):c.1257G>C (p.Glu419Asp)	LOC105369937, MYBPC1 (E382D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048415	NM_002465.4(MYBPC1):c.1084G>A (p.Val362Ile)	LOC105369937, MYBPC1 (V292I +6 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MYBPC1-related disorder	GLikely benign
Select item 2689476	NM_002465.4(MYBPC1):c.59A>C (p.Glu20Ala)	MYBPC1 (E20A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689475	NM_002465.4(MYBPC1):c.1138T>G (p.Cys380Gly)	LOC105369937, MYBPC1 (C310G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689474	NM_002465.4(MYBPC1):c.3433+5G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2689473	NM_002465.4(MYBPC1):c.143G>T (p.Gly48Val)	MYBPC1 (G48V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2689472	NM_002465.4(MYBPC1):c.154C>T (p.Arg52Trp)	MYBPC1 (R52W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2689471	NM_002465.4(MYBPC1):c.439G>A (p.Val147Met)	MYBPC1 (V109M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689470	NM_002465.4(MYBPC1):c.611G>C (p.Gly204Ala)	MYBPC1 (G153A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2643240	NM_002465.4(MYBPC1):c.1281A>G (p.Ile427Met)	LOC105369937, MYBPC1 (I357M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643239	NM_002465.4(MYBPC1):c.1220T>C (p.Ile407Thr)	LOC105369937, MYBPC1 (I337T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643238	NM_002465.4(MYBPC1):c.1026A>G (p.Thr342=)	LOC105369937, MYBPC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2556500	NM_002465.4(MYBPC1):c.1127C>T (p.Thr376Ile)	LOC105369937, MYBPC1 (T338I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553519	NM_002465.4(MYBPC1):c.1294A>G (p.Lys432Glu)	LOC105369937, MYBPC1 (K362E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527278	NM_002465.4(MYBPC1):c.1147A>G (p.Arg383Gly)	LOC105369937, MYBPC1 (R313G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461105	NM_002465.4(MYBPC1):c.1289C>T (p.Ala430Val)	LOC105369937, MYBPC1 (A360V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433860	NM_002465.4(MYBPC1):c.377delinsGG (p.Asp126fs)	MYBPC1 (D101fs +4 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2433859	NM_002465.4(MYBPC1):c.2788T>A (p.Ser930Thr)	MYBPC1 (S860T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433858	NM_002465.4(MYBPC1):c.787C>T (p.Leu263Phe)	MYBPC1 (L193F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433857	NM_002465.4(MYBPC1):c.831_832delinsCC (p.Ala278Pro)	MYBPC1 (A208P +6 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2433856	NM_002465.4(MYBPC1):c.272G>A (p.Gly91Glu)	MYBPC1 (G40E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433855	NM_002465.4(MYBPC1):c.3514T>G (p.Ter1172Gly)	MYBPC1	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance
Select item 2340022	NM_002465.4(MYBPC1):c.1221C>G (p.Ile407Met)	LOC105369937, MYBPC1 (I356M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678745	NM_002465.4(MYBPC1):c.1053C>T (p.Ala351=)	LOC105369937, MYBPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1294478	NM_002465.4(MYBPC1):c.1363+61C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282232	NM_002465.4(MYBPC1):c.1090+294T>C	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268086	NM_002465.4(MYBPC1):c.1091-66A>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265490	NM_002465.4(MYBPC1):c.1197-231C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260185	NM_002465.4(MYBPC1):c.1196+182C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255077	NM_002465.4(MYBPC1):c.1196+46dup	LOC105369937, MYBPC1	Duplication (intron variant)	not provided	GBenign
Select item 1254757	NM_002465.4(MYBPC1):c.1090+202A>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249342	NM_002465.4(MYBPC1):c.1363+202G>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241917	NM_002465.4(MYBPC1):c.1363+247A>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239911	NM_002465.4(MYBPC1):c.1363+97G>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238195	NM_002465.4(MYBPC1):c.1196+285C>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235032	NM_002465.4(MYBPC1):c.1363+145T>A	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221401	NM_002465.4(MYBPC1):c.1197-48dup	LOC105369937, MYBPC1	Duplication (intron variant)	not provided	GBenign
Select item 1202021	NM_002465.4(MYBPC1):c.1363+297T>C	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189566	NM_002465.4(MYBPC1):c.1197-144C>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124569	NM_002465.4(MYBPC1):c.1022T>C (p.Met341Thr)	LOC105369937, MYBPC1 (M290T +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 916303	NM_002465.4(MYBPC1):c.1225G>A (p.Gly409Ser)	LOC105369937, MYBPC1 (G358S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 806926	NM_002465.4(MYBPC1):c.1352T>C (p.Leu451Pro)	LOC105369937, MYBPC1 (L407P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747077	NM_002465.4(MYBPC1):c.1363+9G>T	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620531	NM_002465.4(MYBPC1):c.1242C>A (p.Tyr414Ter)	LOC105369937, MYBPC1 (Y414* +6 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 445419	NM_002465.4(MYBPC1):c.1363+18A>G	LOC105369937, MYBPC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421282	NM_002465.4(MYBPC1):c.1253T>G (p.Val418Gly)	LOC105369937, MYBPC1 (V418G +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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

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Links from Gene

Items: 52