ClinVar for Gene (Select 4619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3297332	NM_005963.4(MYH1):c.193G>A (p.Glu65Lys)	MYH1, MYHAS (E65K)	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 3297330	NM_005963.4(MYH1):c.4231G>C (p.Val1411Leu)	MYH1, MYHAS (V1411L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297329	NM_005963.4(MYH1):c.1277C>A (p.Ala426Glu)	MYH1, MYHAS (A426E)	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 3297327	NM_005963.4(MYH1):c.1326G>A (p.Met442Ile)	MYH1, MYHAS (M442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297326	NM_005963.4(MYH1):c.1900G>A (p.Ala634Thr)	MYH1, MYHAS (A634T)	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 3297324	NM_005963.4(MYH1):c.4951C>G (p.Gln1651Glu)	MYH1, MYHAS (Q1651E)	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 3297321	NM_005963.4(MYH1):c.5534G>A (p.Arg1845His)	MYH1, MYHAS (R1845H)	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 3297319	NM_005963.4(MYH1):c.1492G>A (p.Val498Met)	MYH1, MYHAS (V498M)	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 3297317	NM_005963.4(MYH1):c.1850T>A (p.Met617Lys)	MYH1, MYHAS (M617K)	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 3297315	NM_005963.4(MYH1):c.3479C>A (p.Ala1160Asp)	MYH1, MYHAS (A1160D)	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 3239109	NM_005963.4(MYH1):c.3031C>T (p.Leu1011=)	MYH1, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3239102	NM_005963.4(MYH1):c.765C>T (p.Phe255=)	MYH1, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3155953	NM_005963.4(MYH1):c.74T>C (p.Ile25Thr)	MYH1, MYHAS (I25T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3155920	NM_005963.4(MYH1):c.5584C>T (p.Arg1862Cys)	MYH1, MYHAS (R1862C)	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 3155885	NM_005963.4(MYH1):c.5185A>G (p.Asn1729Asp)	MYH1, MYHAS (N1729D)	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 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 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 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 3155841	NM_005963.4(MYH1):c.443G>A (p.Arg148His)	MYH1, MYHAS (R148H)	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 3155825	NM_005963.4(MYH1):c.4321G>T (p.Ala1441Ser)	MYH1, MYHAS (A1441S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155822	NM_005963.4(MYH1):c.425C>G (p.Ala142Gly)	MYH1, MYHAS (A142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155803	NM_005963.4(MYH1):c.37G>A (p.Ala13Thr)	MYH1, MYHAS (A13T)	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 3155790	NM_005963.4(MYH1):c.3478G>A (p.Ala1160Thr)	MYH1, MYHAS (A1160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155781	NM_005963.4(MYH1):c.308T>C (p.Leu103Pro)	MYH1, MYHAS (L103P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155775	NM_005963.4(MYH1):c.281T>C (p.Met94Thr)	MYH1, MYHAS (M94T)	Single nucleotide variant (missense variant)	not specified	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 3155742	NM_005963.4(MYH1):c.2105T>C (p.Val702Ala)	MYH1, MYHAS (V702A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155737	NM_005963.4(MYH1):c.1934G>A (p.Gly645Asp)	MYH1, MYHAS (G645D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155735	NM_005963.4(MYH1):c.1916A>T (p.Lys639Ile)	MYH1, MYHAS (K639I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155732	NM_005963.4(MYH1):c.1883C>T (p.Thr628Met)	MYH1, MYHAS (T628M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155726	NM_005963.4(MYH1):c.1759G>A (p.Gly587Ser)	MYH1, MYHAS (G587S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155700	NM_005963.4(MYH1):c.1136A>G (p.Asp379Gly)	MYH1, MYHAS (D379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064136	NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)	MYH1, MYHAS (K432T)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2672714	GRCh37/hg19 17p13.1(chr17:10101525-10415863)x3	GAS7, MYH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2647477	NM_005963.4(MYH1):c.868dup (p.Tyr290fs)	MYH1, MYHAS (Y290fs)	Duplication (frameshift variant)	not provided	GLikely benign
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 2647475	NM_005963.4(MYH1):c.5583C>T (p.Asp1861=)	MYH1, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2588105	NM_005963.4(MYH1):c.5332G>A (p.Asp1778Asn)	MYH1, MYHAS (D1778N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2552102	NM_005963.4(MYH1):c.520T>A (p.Ser174Thr)	MYH1, MYHAS (S174T)	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 2544043	NM_005963.4(MYH1):c.473T>C (p.Ile158Thr)	MYH1, MYHAS (I158T)	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 2532390	NM_005963.4(MYH1):c.1393A>T (p.Ile465Phe)	MYH1, MYHAS (I465F)	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 2529390	NM_005963.4(MYH1):c.1079T>C (p.Met360Thr)	MYH1, MYHAS (M360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520037	NM_005963.4(MYH1):c.1906G>A (p.Gly636Ser)	MYH1, MYHAS (G636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519207	NM_005963.4(MYH1):c.1300G>A (p.Val434Ile)	MYH1, MYHAS (V434I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513956	NM_005963.4(MYH1):c.1630C>A (p.Pro544Thr)	MYH1, MYHAS (P544T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498692	NM_005963.4(MYH1):c.1535C>T (p.Thr512Met)	MYH1, MYHAS (T512M)	Single nucleotide variant (missense variant)	not provided	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 2492444	NM_005963.4(MYH1):c.5398C>T (p.Arg1800Cys)	MYH1, MYHAS (R1800C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487900	NM_005963.4(MYH1):c.1843T>C (p.Ser615Pro)	MYH1, MYHAS (S615P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486946	NM_005963.4(MYH1):c.500T>C (p.Leu167Pro)	MYH1, MYHAS (L167P)	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 2476092	NM_005963.4(MYH1):c.3398G>T (p.Arg1133Leu)	MYH1, MYHAS (R1133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470285	NM_005963.4(MYH1):c.949A>G (p.Ser317Gly)	MYH1, MYHAS (S317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457965	NM_005963.4(MYH1):c.442C>T (p.Arg148Cys)	MYH1, MYHAS (R148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456222	NM_005963.4(MYH1):c.66G>C (p.Arg22Ser)	MYH1, MYHAS (R22S)	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 2405687	NM_005963.4(MYH1):c.547G>A (p.Ala183Thr)	MYH1, MYHAS (A183T)	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 2395406	NM_005963.4(MYH1):c.3689T>G (p.Met1230Arg)	MYH1, MYHAS (M1230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394927	NM_005963.4(MYH1):c.1862C>G (p.Ala621Gly)	MYH1, MYHAS (A621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2386133	NM_005963.4(MYH1):c.5354G>A (p.Arg1785Gln)	MYH1, MYHAS (R1785Q)	Single nucleotide variant (missense variant)	not specified	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
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 2378315	NM_005963.4(MYH1):c.740T>C (p.Phe247Ser)	MYH1, MYHAS (F247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375091	NM_005963.4(MYH1):c.298C>A (p.Pro100Thr)	MYH1, MYHAS (P100T)	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 2372536	NM_005963.4(MYH1):c.4198C>T (p.Arg1400Cys)	MYH1, MYHAS (R1400C)	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 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 2356816	NM_005963.4(MYH1):c.3293T>C (p.Ile1098Thr)	MYH1, MYHAS (I1098T)	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 2353789	NM_005963.4(MYH1):c.3515A>C (p.Glu1172Ala)	MYH1, MYHAS (E1172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352850	NM_005963.4(MYH1):c.1526T>C (p.Ile509Thr)	MYH1, MYHAS (I509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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