ClinVar for Gene (Select 8736) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344272	NM_003803.4(MYOM1):c.2630G>A (p.Ser877Asn)	MYOM1 (S877N)	Single nucleotide variant (intron variant +1 more)	MYOM1-related disorder	GUncertain significance
Select item 3298052	NM_003803.4(MYOM1):c.2873A>G (p.Asp958Gly)	MYOM1 (D958G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298051	NM_003803.4(MYOM1):c.3061G>T (p.Ala1021Ser)	MYOM1 (A1021S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298050	NM_003803.4(MYOM1):c.4835C>T (p.Ala1612Val)	MYOM1 (A1516V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298048	NM_003803.4(MYOM1):c.714G>T (p.Lys238Asn)	MYOM1 (K238N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298047	NM_003803.4(MYOM1):c.1232T>C (p.Phe411Ser)	MYOM1 (F411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298045	NM_003803.4(MYOM1):c.1171A>G (p.Ser391Gly)	MYOM1 (S391G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298044	NM_003803.4(MYOM1):c.193T>C (p.Ser65Pro)	MYOM1 (S65P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298043	NM_003803.4(MYOM1):c.4059C>G (p.Ile1353Met)	MYOM1 (I1257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298042	NM_003803.4(MYOM1):c.4731T>C (p.Gly1577=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298041	NM_003803.4(MYOM1):c.228C>T (p.His76=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298040	NM_003803.4(MYOM1):c.3076A>G (p.Ser1026Gly)	MYOM1 (S1026G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298039	NM_003803.4(MYOM1):c.2989A>C (p.Lys997Gln)	MYOM1 (K901Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298038	NM_003803.4(MYOM1):c.3540C>T (p.Asp1180=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298037	NM_003803.4(MYOM1):c.777A>G (p.Glu259=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298035	NM_003803.4(MYOM1):c.460A>G (p.Thr154Ala)	MYOM1 (T154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298034	NM_003803.4(MYOM1):c.4187G>A (p.Arg1396Lys)	MYOM1 (R1300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298033	NM_003803.4(MYOM1):c.2728C>T (p.Pro910Ser)	MYOM1 (P910S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298032	NM_003803.4(MYOM1):c.240T>C (p.Ser80=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298031	NM_003803.4(MYOM1):c.4491C>T (p.Ser1497=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298030	NM_003803.4(MYOM1):c.2683G>A (p.Glu895Lys)	MYOM1 (E895K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298029	NM_003803.4(MYOM1):c.3237G>C (p.Glu1079Asp)	MYOM1 (E1079D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298028	NM_003803.4(MYOM1):c.3066C>G (p.Pro1022=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298026	NM_003803.4(MYOM1):c.2184G>A (p.Glu728=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298025	NM_003803.4(MYOM1):c.4649C>G (p.Ala1550Gly)	MYOM1 (A1550G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298024	NM_003803.4(MYOM1):c.2776A>C (p.Lys926Gln)	MYOM1 (K926Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298023	NM_003803.4(MYOM1):c.3763T>C (p.Leu1255=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298022	NM_003803.4(MYOM1):c.4521C>T (p.Thr1507=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298021	NM_003803.4(MYOM1):c.4908G>C (p.Val1636=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298020	NM_003803.4(MYOM1):c.4653C>T (p.Tyr1551=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298019	NM_003803.4(MYOM1):c.4239G>C (p.Leu1413=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3298017	NM_003803.4(MYOM1):c.73A>C (p.Thr25Pro)	MYOM1 (T25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298016	NM_003803.4(MYOM1):c.3804A>T (p.Lys1268Asn)	MYOM1 (K1172N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298015	NM_003803.4(MYOM1):c.2119T>C (p.Ser707Pro)	MYOM1 (S707P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298014	NM_003803.4(MYOM1):c.1541T>C (p.Leu514Ser)	MYOM1 (L514S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298012	NM_003803.4(MYOM1):c.1172G>A (p.Ser391Asn)	MYOM1 (S391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298011	NM_003803.4(MYOM1):c.4087T>C (p.Tyr1363His)	MYOM1 (Y1363H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223578	NM_003803.4(MYOM1):c.965A>G (p.Asn322Ser)	MYOM1 (N322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223576	NM_003803.4(MYOM1):c.640T>C (p.Ser214Pro)	MYOM1 (S214P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223575	NM_003803.4(MYOM1):c.519T>C (p.Ala173=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223574	NM_003803.4(MYOM1):c.5038G>A (p.Gly1680Ser)	MYOM1 (G1584S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223573	NM_003803.4(MYOM1):c.4974C>T (p.Asp1658=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223572	NM_003803.4(MYOM1):c.4885G>A (p.Ala1629Thr)	MYOM1 (A1533T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223571	NM_003803.4(MYOM1):c.4790G>T (p.Trp1597Leu)	MYOM1 (W1501L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223570	NM_003803.4(MYOM1):c.4712G>A (p.Arg1571His)	MYOM1 (R1475H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223569	NM_003803.4(MYOM1):c.4511G>A (p.Arg1504Lys)	MYOM1 (R1408K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223568	NM_003803.4(MYOM1):c.4459G>A (p.Asp1487Asn)	MYOM1 (D1391N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223567	NM_003803.4(MYOM1):c.4448A>T (p.Tyr1483Phe)	MYOM1 (Y1387F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223566	NM_003803.4(MYOM1):c.4354A>T (p.Met1452Leu)	MYOM1 (M1356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223565	NM_003803.4(MYOM1):c.4236C>A (p.Thr1412=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223564	NM_003803.4(MYOM1):c.3887G>A (p.Arg1296Gln)	MYOM1 (R1200Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223563	NM_003803.4(MYOM1):c.3648T>C (p.Asp1216=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223562	NM_003803.4(MYOM1):c.358A>C (p.Lys120Gln)	MYOM1 (K120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223561	NM_003803.4(MYOM1):c.3395C>T (p.Pro1132Leu)	MYOM1 (P1036L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223560	NM_003803.4(MYOM1):c.333G>T (p.Lys111Asn)	MYOM1 (K111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223558	NM_003803.4(MYOM1):c.2779A>C (p.Lys927Gln)	MYOM1 (K927Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223557	NM_003803.4(MYOM1):c.276T>C (p.Tyr92=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223556	NM_003803.4(MYOM1):c.2716G>C (p.Glu906Gln)	MYOM1 (E906Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223555	NM_003803.4(MYOM1):c.2607C>A (p.Phe869Leu)	MYOM1 (F869L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3223554	NM_003803.4(MYOM1):c.2372T>A (p.Val791Glu)	MYOM1 (V791E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223553	NM_003803.4(MYOM1):c.2363A>G (p.Asn788Ser)	MYOM1 (N788S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223552	NM_003803.4(MYOM1):c.2306T>C (p.Val769Ala)	MYOM1 (V769A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223551	NM_003803.4(MYOM1):c.2100T>G (p.Phe700Leu)	MYOM1 (F700L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223550	NM_003803.4(MYOM1):c.2004C>T (p.Gly668=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223549	NM_003803.4(MYOM1):c.1840A>G (p.Lys614Glu)	MYOM1 (K614E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223547	NM_003803.4(MYOM1):c.159G>T (p.Ala53=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223546	NM_003803.4(MYOM1):c.1527C>G (p.Ala509=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223545	NM_003803.4(MYOM1):c.1291A>G (p.Thr431Ala)	MYOM1 (T431A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3223544	NM_003803.4(MYOM1):c.1278T>C (p.Cys426=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3223543	NM_003803.4(MYOM1):c.1042G>T (p.Ala348Ser)	MYOM1 (A348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168229	NM_003803.4(MYOM1):c.926C>T (p.Thr309Met)	MYOM1 (T309M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168173	NM_003803.4(MYOM1):c.4057A>G (p.Ile1353Val)	MYOM1 (I1257V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168157	NM_003803.4(MYOM1):c.3721T>C (p.Phe1241Leu)	MYOM1 (F1145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168106	NM_003803.4(MYOM1):c.2798C>T (p.Pro933Leu)	MYOM1 (P933L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168081	NM_003803.4(MYOM1):c.2057T>C (p.Val686Ala)	MYOM1 (V686A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168070	NM_003803.4(MYOM1):c.1904G>T (p.Gly635Val)	MYOM1 (G635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168051	NM_003803.4(MYOM1):c.175G>C (p.Glu59Gln)	MYOM1 (E59Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063564	GRCh37/hg19 18p11.32-11.23(chr18:136227-8359829)x1	ADCYAP1, AKAIN1 +28 more	Copy number loss	not specified	GPathogenic
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063557	GRCh37/hg19 18p11.32-11.31(chr18:544117-5679224)x1	ADCYAP1, AKAIN1 +19 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3047471	NM_003803.4(MYOM1):c.3304-4C>T	MYOM1	Single nucleotide variant (intron variant)	MYOM1-related disorder	GLikely benign
Select item 3030913	NM_003803.4(MYOM1):c.2421T>C (p.Tyr807=)	MYOM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3022077	NM_003803.4(MYOM1):c.2177C>G (p.Ala726Gly)	MYOM1 (A726G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3016141	NM_003803.4(MYOM1):c.3323G>A (p.Gly1108Asp)	MYOM1 (G1012D +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3016064	NM_003803.4(MYOM1):c.2114G>A (p.Gly705Glu)	MYOM1 (G705E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3016042	NM_003803.4(MYOM1):c.43C>T (p.Leu15Phe)	MYOM1 (L15F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3014883	NM_003803.4(MYOM1):c.108C>T (p.Ser36=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 3014514	NM_003803.4(MYOM1):c.4252-10T>A	MYOM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3012431	NM_003803.4(MYOM1):c.4649-15T>C	MYOM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3011995	NM_003803.4(MYOM1):c.1844-18A>T	MYOM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3008624	NM_003803.4(MYOM1):c.1405T>C (p.Phe469Leu)	MYOM1 (F469L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3008125	NM_003803.4(MYOM1):c.4450T>C (p.Tyr1484His)	MYOM1 (Y1388H +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3004678	NM_003803.4(MYOM1):c.3347G>A (p.Arg1116Gln)	MYOM1 (R1020Q +1 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3003378	NM_003803.4(MYOM1):c.4863C>T (p.Leu1621=)	MYOM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign

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