Related gene-specific medical variations for Gene (Select 4619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2647477	NM_005963.4(MYH1):c.868dup (p.Tyr290fs)	MYH1, MYHAS (Y290fs)	Duplication (frameshift variant)	not provided +1 more	GLikely benign
Select item 2647476	NM_005963.4(MYH1):c.2574A>G (p.Glu858=)	LOC126862499, MYH1 +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 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
Select item 2345159	NM_005963.4(MYH1):c.1686A>T (p.Lys562Asn)	MYH1, MYHAS (K562N)	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 2341440	NM_005963.4(MYH1):c.3963G>T (p.Arg1321Ser)	MYH1, MYHAS (R1321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339959	NM_005963.4(MYH1):c.1231A>C (p.Asn411His)	MYH1, MYHAS (N411H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334491	NM_005963.4(MYH1):c.1586A>G (p.Lys529Arg)	MYH1, MYHAS (K529R)	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 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 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 2324877	NM_005963.4(MYH1):c.3353G>A (p.Arg1118His)	MYH1, MYHAS (R1118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322709	NM_005963.4(MYH1):c.803C>G (p.Thr268Arg)	MYH1, MYHAS (T268R)	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 2321189	NM_005963.4(MYH1):c.239T>C (p.Met80Thr)	MYH1, MYHAS (M80T)	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 2318701	NM_005963.4(MYH1):c.934G>A (p.Asp312Asn)	MYH1, MYHAS (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301343	NM_005963.4(MYH1):c.1657A>G (p.Asn553Asp)	MYH1, MYHAS (N553D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295668	NM_005963.4(MYH1):c.1027G>A (p.Gly343Ser)	MYH1, MYHAS (G343S)	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 2289619	NM_005963.4(MYH1):c.3238C>T (p.Leu1080Phe)	MYH1, MYHAS (L1080F)	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 2282037	NM_005963.4(MYH1):c.3398G>A (p.Arg1133Gln)	MYH1, MYHAS (R1133Q)	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 2281618	NM_005963.4(MYH1):c.3313G>T (p.Gly1105Cys)	MYH1, MYHAS (G1105C)	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 2271447	NM_005963.4(MYH1):c.3425A>T (p.Asp1142Val)	MYH1, MYHAS (D1142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2269417	NM_005963.4(MYH1):c.53G>A (p.Arg18Gln)	MYH1, MYHAS (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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