MYH1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 221395	GRCh38/hg38 17p13.1-12(chr17:9701182-11983353)x1	ADPRM, DHRS7C +57 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 1184412	NC_000017.11:g.10078000_10512000dup	MYH13, MYH4 +18 more	Duplication	not provided	GUncertain significance
Select item 60132	GRCh38/hg38 17p13.1(chr17:10084941-10502052)x3	GAS7, LOC112529894 +17 more	Copy number gain	See cases	GUncertain significance
Select item 1098572	GRCh38/hg38 17p13.1(chr17:10106970-10512523)x3	GAS7, LOC112529894 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150528	GRCh38/hg38 17p13.1-12(chr17:10334509-10900316)x1	ADPRM, LOC112529895 +25 more	Copy number loss	See cases	GPathogenic
Select item 3155942	NM_005963.4(MYH1):c.5806A>G (p.Ile1936Val)	LOC126862497, MYH1 +1 more (I1936V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230315	NM_005963.4(MYH1):c.5737C>T (p.Arg1913Trp)	LOC126862497, MYH1 +1 more (R1913W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297325	NM_005963.4(MYH1):c.5731G>A (p.Glu1911Lys)	LOC126862497, MYH1 +1 more (E1911K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211160	NM_005963.4(MYH1):c.5725G>C (p.Glu1909Gln)	LOC126862497, MYH1 +1 more (E1909Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326570	NM_005963.4(MYH1):c.5713C>A (p.His1905Asn)	LOC126862497, MYH1 +1 more (H1905N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155927	NM_005963.4(MYH1):c.5702G>A (p.Arg1901His)	LOC126862497, MYH1 +1 more (R1901H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297333	NM_005963.4(MYH1):c.5677T>A (p.Ser1893Thr)	LOC126862497, MYH1 +1 more (S1893T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294580	NM_005963.4(MYH1):c.5651G>A (p.Arg1884Lys)	MYH1, MYHAS (R1884K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237821	NM_005963.4(MYH1):c.5595T>G (p.Ile1865Met)	MYH1, MYHAS (I1865M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155920	NM_005963.4(MYH1):c.5584C>T (p.Arg1862Cys)	MYH1, MYHAS (R1862C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647475	NM_005963.4(MYH1):c.5583C>T (p.Asp1861=)	MYH1, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270853	NM_005963.4(MYH1):c.5573C>G (p.Thr1858Ser)	MYH1, MYHAS (T1858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297321	NM_005963.4(MYH1):c.5534G>A (p.Arg1845His)	MYH1, MYHAS (R1845H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598895	NM_005963.4(MYH1):c.5533C>T (p.Arg1845Cys)	MYH1, MYHAS (R1845C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399194	NM_005963.4(MYH1):c.5399G>A (p.Arg1800His)	MYH1, MYHAS (R1800H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492444	NM_005963.4(MYH1):c.5398C>T (p.Arg1800Cys)	MYH1, MYHAS (R1800C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322094	NM_005963.4(MYH1):c.5374C>A (p.Gln1792Lys)	MYH1, MYHAS (Q1792K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386133	NM_005963.4(MYH1):c.5354G>A (p.Arg1785Gln)	MYH1, MYHAS (R1785Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588105	NM_005963.4(MYH1):c.5332G>A (p.Asp1778Asn)	MYH1, MYHAS (D1778N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297331	NM_005963.4(MYH1):c.5267A>G (p.Glu1756Gly)	MYH1, MYHAS (E1756G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155894	NM_005963.4(MYH1):c.5261A>G (p.Asn1754Ser)	MYH1, MYHAS (N1754S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155890	NM_005963.4(MYH1):c.5234T>C (p.Met1745Thr)	MYH1, MYHAS (M1745T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263091	NM_005963.4(MYH1):c.5228G>A (p.Gly1743Glu)	MYH1, MYHAS (G1743E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155885	NM_005963.4(MYH1):c.5185A>G (p.Asn1729Asp)	MYH1, MYHAS (N1729D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342007	NM_005963.4(MYH1):c.5183T>C (p.Ile1728Thr)	MYH1, MYHAS (I1728T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209006	NM_005963.4(MYH1):c.5100G>C (p.Glu1700Asp)	MYH1, MYHAS (E1700D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297328	NM_005963.4(MYH1):c.5056C>A (p.Gln1686Lys)	MYH1, MYHAS (Q1686K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297318	NM_005963.4(MYH1):c.5038C>T (p.Arg1680Cys)	MYH1, MYHAS (R1680C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284708	NM_005963.4(MYH1):c.5030T>C (p.Met1677Thr)	MYH1, MYHAS (M1677T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353820	NM_005963.4(MYH1):c.4975C>A (p.Leu1659Ile)	MYH1, MYHAS (L1659I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3297324	NM_005963.4(MYH1):c.4951C>G (p.Gln1651Glu)	MYH1, MYHAS (Q1651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155867	NM_005963.4(MYH1):c.4880A>G (p.Asn1627Ser)	LOC126862498, MYH1 +1 more (N1627S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371287	NM_005963.4(MYH1):c.4780C>A (p.His1594Asn)	LOC126862498, MYH1 +1 more (H1594N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155862	NM_005963.4(MYH1):c.4768A>C (p.Met1590Leu)	LOC126862498, MYH1 +1 more (M1590L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232606	NM_005963.4(MYH1):c.4754A>G (p.Glu1585Gly)	LOC126862498, MYH1 +1 more (E1585G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210197	NM_005963.4(MYH1):c.4733G>A (p.Arg1578Lys)	LOC126862498, MYH1 +1 more (R1578K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331347	NM_005963.4(MYH1):c.4616A>G (p.Gln1539Arg)	LOC126862498, MYH1 +1 more (Q1539R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368142	NM_005963.4(MYH1):c.4586A>C (p.Glu1529Ala)	LOC126862498, MYH1 +1 more (E1529A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155850	NM_005963.4(MYH1):c.4576C>T (p.Arg1526Cys)	LOC126862498, MYH1 +1 more (R1526C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493939	NM_005963.4(MYH1):c.4547T>C (p.Leu1516Pro)	LOC126862498, MYH1 +1 more (L1516P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155845	NM_005963.4(MYH1):c.4507A>C (p.Lys1503Gln)	LOC126862498, MYH1 +1 more (K1503Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373123	NM_005963.4(MYH1):c.4435C>T (p.Arg1479Cys)	LOC126862498, MYH1 +1 more (R1479C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155826	NM_005963.4(MYH1):c.4406C>G (p.Ala1469Gly)	LOC126862498, MYH1 +1 more (A1469G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297316	NM_005963.4(MYH1):c.4356C>G (p.Asn1452Lys)	MYH1, MYHAS (N1452K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872644	NM_005963.4(MYH1):c.4333G>A (p.Ala1445Thr)	MYH1, MYHAS (A1445T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155825	NM_005963.4(MYH1):c.4321G>T (p.Ala1441Ser)	MYH1, MYHAS (A1441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297314	NM_005963.4(MYH1):c.4238C>G (p.Ala1413Gly)	MYH1, MYHAS (A1413G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297330	NM_005963.4(MYH1):c.4231G>C (p.Val1411Leu)	MYH1, MYHAS (V1411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872645	NM_005963.4(MYH1):c.4199G>A (p.Arg1400His)	MYH1, MYHAS (R1400H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2372536	NM_005963.4(MYH1):c.4198C>T (p.Arg1400Cys)	MYH1, MYHAS (R1400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297322	NM_005963.4(MYH1):c.4192G>C (p.Ala1398Pro)	MYH1, MYHAS (A1398P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277312	NM_005963.4(MYH1):c.4060G>A (p.Glu1354Lys)	MYH1, MYHAS (E1354K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281619	NM_005963.4(MYH1):c.3982A>G (p.Lys1328Glu)	MYH1, MYHAS (K1328E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341440	NM_005963.4(MYH1):c.3963G>T (p.Arg1321Ser)	MYH1, MYHAS (R1321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297336	NM_005963.4(MYH1):c.3890A>C (p.Glu1297Ala)	MYH1, MYHAS (E1297A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333020	NM_005963.4(MYH1):c.3821T>C (p.Ile1274Thr)	MYH1, MYHAS (I1274T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208784	NM_005963.4(MYH1):c.3815G>A (p.Arg1272Gln)	MYH1, MYHAS (R1272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320280	NM_005963.4(MYH1):c.3761G>A (p.Arg1254His)	MYH1, MYHAS (R1254H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395406	NM_005963.4(MYH1):c.3689T>G (p.Met1230Arg)	MYH1, MYHAS (M1230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476512	NM_005963.4(MYH1):c.3608G>A (p.Ser1203Asn)	MYH1, MYHAS (S1203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379468	NM_005963.4(MYH1):c.3535C>T (p.Arg1179Cys)	MYH1, MYHAS (R1179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353789	NM_005963.4(MYH1):c.3515A>C (p.Glu1172Ala)	MYH1, MYHAS (E1172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155791	NM_005963.4(MYH1):c.3503A>G (p.Asn1168Ser)	MYH1, MYHAS (N1168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297315	NM_005963.4(MYH1):c.3479C>A (p.Ala1160Asp)	MYH1, MYHAS (A1160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155790	NM_005963.4(MYH1):c.3478G>A (p.Ala1160Thr)	MYH1, MYHAS (A1160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271447	NM_005963.4(MYH1):c.3425A>T (p.Asp1142Val)	MYH1, MYHAS (D1142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476092	NM_005963.4(MYH1):c.3398G>T (p.Arg1133Leu)	MYH1, MYHAS (R1133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282037	NM_005963.4(MYH1):c.3398G>A (p.Arg1133Gln)	MYH1, MYHAS (R1133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257468	NM_005963.4(MYH1):c.3397C>T (p.Arg1133Trp)	MYH1, MYHAS (R1133W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408297	NM_005963.4(MYH1):c.3356T>C (p.Ile1119Thr)	MYH1, MYHAS (I1119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324877	NM_005963.4(MYH1):c.3353G>A (p.Arg1118His)	MYH1, MYHAS (R1118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281618	NM_005963.4(MYH1):c.3313G>T (p.Gly1105Cys)	MYH1, MYHAS (G1105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356816	NM_005963.4(MYH1):c.3293T>C (p.Ile1098Thr)	MYH1, MYHAS (I1098T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289619	NM_005963.4(MYH1):c.3238C>T (p.Leu1080Phe)	MYH1, MYHAS (L1080F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239109	NM_005963.4(MYH1):c.3031C>T (p.Leu1011=)	MYH1, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3155772	NM_005963.4(MYH1):c.2805G>C (p.Glu935Asp)	MYH1, MYHAS (E935D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155767	NM_005963.4(MYH1):c.2761G>T (p.Ala921Ser)	MYH1, MYHAS (A921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155761	NM_005963.4(MYH1):c.2703C>A (p.Ser901Arg)	MYH1, MYHAS (S901R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647476	NM_005963.4(MYH1):c.2574A>G (p.Glu858=)	MYH1, MYHAS +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265081	NM_005963.4(MYH1):c.2467C>T (p.Arg823Cys)	LOC126862499, MYH1 +1 more (R823C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297335	NM_005963.4(MYH1):c.2444T>A (p.Ile815Asn)	LOC126862499, MYH1 +1 more (I815N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529608	NM_005963.4(MYH1):c.2375C>T (p.Thr792Ile)	LOC126862499, MYH1 +1 more (T792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297320	NM_005963.4(MYH1):c.2349G>C (p.Glu783Asp)	LOC126862499, MYH1 +1 more (E783D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392840	NM_005963.4(MYH1):c.2306T>C (p.Phe769Ser)	LOC126862499, MYH1 +1 more (F769S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543551	NM_005963.4(MYH1):c.2299G>C (p.Val767Leu)	LOC126862499, MYH1 +1 more (V767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545818	NM_005963.4(MYH1):c.2241G>C (p.Glu747Asp)	LOC126862499, MYH1 +1 more (E747D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212897	NM_005963.4(MYH1):c.2110G>A (p.Glu704Lys)	MYH1, MYHAS (E704K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155742	NM_005963.4(MYH1):c.2105T>C (p.Val702Ala)	MYH1, MYHAS (V702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694829	NM_005963.4(MYH1):c.2057-7C>A	MYH1, MYHAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013380	NM_005963.4(MYH1):c.2014C>G (p.His672Asp)	MYH1, MYHAS (H672D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385873	NM_005963.4(MYH1):c.1973A>G (p.Asn658Ser)	MYH1, MYHAS (N658S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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