ClinVar for Gene (Select 4604) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 375

<< First< Prev

Page of 4

	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 3337339	NM_002465.4(MYBPC1):c.832+1G>C	MYBPC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3337338	NM_002465.4(MYBPC1):c.399G>T (p.Lys133Asn)	MYBPC1 (K108N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297196	NM_002465.4(MYBPC1):c.2821C>G (p.Pro941Ala)	MYBPC1 (P871A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297195	NM_002465.4(MYBPC1):c.1399C>A (p.Gln467Lys)	MYBPC1 (Q430K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297194	NM_002465.4(MYBPC1):c.193G>A (p.Glu65Lys)	MYBPC1 (E14K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297193	NM_002465.4(MYBPC1):c.832+2T>A	MYBPC1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3297192	NM_002465.4(MYBPC1):c.247A>G (p.Ile83Val)	MYBPC1 (I58V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3297191	NM_002465.4(MYBPC1):c.218C>A (p.Ala73Asp)	MYBPC1 (A22D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3297190	NM_002465.4(MYBPC1):c.176C>T (p.Ser59Leu)	MYBPC1 (S59L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3297189	NM_002465.4(MYBPC1):c.2270C>T (p.Thr757Met)	MYBPC1 (T687M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3297188	NM_002465.4(MYBPC1):c.1915G>A (p.Val639Ile)	MYBPC1 (V601I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3252187	NM_002465.4(MYBPC1):c.1820del (p.Ser607fs)	MYBPC1 (S537fs +6 more)	Deletion (frameshift variant)	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 3242127	NM_002465.4(MYBPC1):c.608+5C>T	MYBPC1	Single nucleotide variant (intron variant)	Myopathy, congenital, with tremor	GUncertain significance
Select item 3153830	NM_002465.4(MYBPC1):c.499T>G (p.Cys167Gly)	MYBPC1 (C116G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153816	NM_002465.4(MYBPC1):c.44C>T (p.Pro15Leu)	MYBPC1 (P15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3153811	NM_002465.4(MYBPC1):c.368A>T (p.Lys123Ile)	MYBPC1 (K123I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153805	NM_002465.4(MYBPC1):c.3289G>C (p.Asp1097His)	MYBPC1 (D1090H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153799	NM_002465.4(MYBPC1):c.3278C>G (p.Ala1093Gly)	MYBPC1 (A1068G +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153794	NM_002465.4(MYBPC1):c.3274G>A (p.Val1092Ile)	MYBPC1 (V1048I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153782	NM_002465.4(MYBPC1):c.3100G>A (p.Ala1034Thr)	MYBPC1 (A1009T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153774	NM_002465.4(MYBPC1):c.3031C>T (p.Arg1011Trp)	MYBPC1 (R960W +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153767	NM_002465.4(MYBPC1):c.302C>A (p.Thr101Asn)	MYBPC1 (T101N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153756	NM_002465.4(MYBPC1):c.2840T>C (p.Ile947Thr)	MYBPC1 (I922T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153745	NM_002465.4(MYBPC1):c.2694G>C (p.Glu898Asp)	MYBPC1 (E854D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153733	NM_002465.4(MYBPC1):c.2442T>G (p.Phe814Leu)	MYBPC1 (F744L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153723	NM_002465.4(MYBPC1):c.2012A>G (p.Asp671Gly)	MYBPC1 (D601G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153714	NM_002465.4(MYBPC1):c.1838T>G (p.Ile613Arg)	MYBPC1 (I543R +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3153707	NM_002465.4(MYBPC1):c.1757G>A (p.Arg586Gln)	MYBPC1 (R548Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3153697	NM_002465.4(MYBPC1):c.1502G>A (p.Arg501His)	MYBPC1 (R431H +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063248	GRCh37/hg19 12q23.2(chr12:102012266-102738384)x3	CHPT1, DRAM1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3048611	NM_002465.4(MYBPC1):c.608+6T>C	MYBPC1	Single nucleotide variant (intron variant)	MYBPC1-related disorder	GLikely benign
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 3045205	NM_002465.4(MYBPC1):c.*102C>T	MYBPC1	Single nucleotide variant (3 prime UTR variant +1 more)	MYBPC1-related disorder	GLikely benign
Select item 3043039	NM_002465.4(MYBPC1):c.1725C>T (p.Ser575=)	MYBPC1	Single nucleotide variant (synonymous variant)	MYBPC1-related disorder	GLikely benign
Select item 3026100	NM_002465.4(MYBPC1):c.2908A>G (p.Ile970Val)	MYBPC1 (I900V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2682396	NM_002465.4(MYBPC1):c.1526+5G>A	MYBPC1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2662852	NM_002465.4(MYBPC1):c.2357-801AC[5]	MYBPC1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2662260	NM_002465.4(MYBPC1):c.1706G>A (p.Arg569His)	MYBPC1 (R499H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643241	NM_002465.4(MYBPC1):c.2357-979C>A	MYBPC1 (A764E)	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 2643237	NM_002465.4(MYBPC1):c.666-6G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2635914	NM_002465.4(MYBPC1):c.2902G>C (p.Ala968Pro)	MYBPC1 (A898P +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder +1 more	GUncertain significance
Select item 2633708	NM_002465.4(MYBPC1):c.3293C>T (p.Pro1098Leu)	MYBPC1 (P1028L +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder	GUncertain significance
Select item 2631717	NM_002465.4(MYBPC1):c.2676A>G (p.Ile892Met)	MYBPC1 (I822M +7 more)	Single nucleotide variant (missense variant)	MYBPC1-related disorder	GUncertain significance
Select item 2621689	NM_002465.4(MYBPC1):c.3280A>G (p.Ile1094Val)	MYBPC1 (I1043V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620788	NM_002465.4(MYBPC1):c.485C>T (p.Ala162Val)	MYBPC1 (A137V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602169	NM_002465.4(MYBPC1):c.2479G>A (p.Glu827Lys)	MYBPC1 (E789K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557338	NM_002465.4(MYBPC1):c.467A>G (p.Lys156Arg)	MYBPC1 (K131R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2523604	NM_002465.4(MYBPC1):c.3457C>T (p.Pro1153Ser)	MYBPC1 (P1083S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509619	NM_002465.4(MYBPC1):c.742G>C (p.Glu248Gln)	MYBPC1 (E178Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506280	NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)	MYBPC1 (K44E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499842	NM_002465.4(MYBPC1):c.1927+115_1927+116insGCCTAGAGGACTTTTTTTTTGT	MYBPC1	Insertion (intron variant)	not provided	GLikely benign
Select item 2499841	NM_002465.4(MYBPC1):c.1927+110_1927+111insTTTTT	MYBPC1	Insertion (intron variant)	not provided	GLikely benign
Select item 2491334	NM_002465.4(MYBPC1):c.517G>A (p.Asp173Asn)	MYBPC1 (D136N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483783	NM_002465.4(MYBPC1):c.883G>A (p.Val295Met)	MYBPC1 (V225M +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481714	NM_002465.4(MYBPC1):c.2797A>T (p.Ile933Phe)	MYBPC1 (I863F +7 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 2457400	NM_002465.4(MYBPC1):c.1598A>G (p.Tyr533Cys)	MYBPC1 (Y489C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433861	NM_002465.4(MYBPC1):c.217G>A (p.Ala73Thr)	MYBPC1 (A22T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 2403066	NM_002465.4(MYBPC1):c.1501C>T (p.Arg501Cys)	MYBPC1 (R431C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391274	NM_002465.4(MYBPC1):c.155G>A (p.Arg52Gln)	MYBPC1 (R52Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2384012	NM_002465.4(MYBPC1):c.1756C>T (p.Arg586Trp)	MYBPC1 (R516W +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365194	NM_002465.4(MYBPC1):c.3010A>T (p.Ile1004Leu)	MYBPC1 (I934L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351997	NM_002465.4(MYBPC1):c.314A>C (p.Lys105Thr)	MYBPC1 (K54T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2339561	NM_002465.4(MYBPC1):c.10C>G (p.Pro4Ala)	MYBPC1 (P4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331998	NM_002465.4(MYBPC1):c.2792T>C (p.Ile931Thr)	MYBPC1 (I894T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2312254	NM_002465.4(MYBPC1):c.708G>T (p.Trp236Cys)	MYBPC1 (W185C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301556	NM_002465.4(MYBPC1):c.3175C>T (p.Pro1059Ser)	MYBPC1 (P1015S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295367	NM_002465.4(MYBPC1):c.529A>T (p.Ser177Cys)	MYBPC1 (S140C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284193	NM_002465.4(MYBPC1):c.2701A>G (p.Thr901Ala)	MYBPC1 (T857A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279592	NM_002465.4(MYBPC1):c.3253A>G (p.Ile1085Val)	MYBPC1 (I1041V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274741	NM_002465.4(MYBPC1):c.2135G>T (p.Gly712Val)	MYBPC1 (G668V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260813	NM_002465.4(MYBPC1):c.1909A>G (p.Ile637Val)	MYBPC1 (I593V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225117	NM_002465.4(MYBPC1):c.2812C>T (p.Arg938Cys)	MYBPC1 (R887C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217609	NM_002465.4(MYBPC1):c.1813G>A (p.Asp605Asn)	MYBPC1 (D535N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175763	NM_002465.4(MYBPC1):c.1382T>C (p.Leu461Ser)	MYBPC1 (L410S +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1911512	NM_002465.4(MYBPC1):c.2113G>A (p.Glu705Lys)	MYBPC1 (E661K +6 more)	Single nucleotide variant (missense variant)	not provided	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

<< First< Prev

Page of 4