Related gene-specific medical variations for Gene (Select 4626) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369575	NM_002472.3(MYH8):c.1759G>A (p.Gly587Ser)	MYH8, MYHAS (G587S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366247	NM_002472.3(MYH8):c.1996A>T (p.Arg666Trp)	MYH8, MYHAS (R666W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365589	NM_002472.3(MYH8):c.372C>G (p.Phe124Leu)	MYH8, MYHAS (F124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362711	NM_002472.3(MYH8):c.902T>C (p.Ile301Thr)	MYH8, MYHAS (I301T)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 3348061	NM_002472.3(MYH8):c.105T>C (p.Asp35=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3343149	NM_002472.3(MYH8):c.3364G>C (p.Gly1122Arg)	LOC126862494, MYH8 +1 more (G1122R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3297557	NM_002472.3(MYH8):c.4540G>T (p.Asp1514Tyr)	MYH8, MYHAS (D1514Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297555	NM_002472.3(MYH8):c.715G>A (p.Val239Met)	MYH8, MYHAS (V239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297554	NM_002472.3(MYH8):c.2762A>G (p.Lys921Arg)	MYH8, MYHAS (K921R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297553	NM_002472.3(MYH8):c.3748A>G (p.Lys1250Glu)	MYH8, MYHAS (K1250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297552	NM_002472.3(MYH8):c.1906G>T (p.Ala636Ser)	MYH8, MYHAS (A636S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297551	NM_002472.3(MYH8):c.3844C>T (p.Arg1282Cys)	MYH8, MYHAS (R1282C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297550	NM_002472.3(MYH8):c.4414G>A (p.Ala1472Thr)	MYH8, MYHAS (A1472T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297549	NM_002472.3(MYH8):c.1997G>A (p.Arg666Lys)	MYH8, MYHAS (R666K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297548	NM_002472.3(MYH8):c.2152T>C (p.Tyr718His)	MYH8, MYHAS (Y718H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3254557	NM_002472.3(MYH8):c.5665G>C (p.Glu1889Gln)	MYH8, MYHAS (E1889Q)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 3159034	NM_002472.3(MYH8):c.988G>A (p.Glu330Lys)	MYH8, MYHAS (E330K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159029	NM_002472.3(MYH8):c.907A>G (p.Met303Val)	MYH8, MYHAS (M303V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159011	NM_002472.3(MYH8):c.634T>A (p.Ser212Thr)	MYH8, MYHAS (S212T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158995	NM_002472.3(MYH8):c.5699G>A (p.Arg1900His)	MYH8, MYHAS (R1900H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158963	NM_002472.3(MYH8):c.5296G>T (p.Ala1766Ser)	LOC126862493, MYH8 +1 more (A1766S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158935	NM_002472.3(MYH8):c.4789G>C (p.Val1597Leu)	MYH8, MYHAS (V1597L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158930	NM_002472.3(MYH8):c.4313C>G (p.Ser1438Cys)	MYH8, MYHAS (S1438C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158923	NM_002472.3(MYH8):c.4154G>A (p.Arg1385His)	MYH8, MYHAS (R1385H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158920	NM_002472.3(MYH8):c.4139C>T (p.Thr1380Met)	MYH8, MYHAS (T1380M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158900	NM_002472.3(MYH8):c.3949G>A (p.Glu1317Lys)	MYH8, MYHAS (E1317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158892	NM_002472.3(MYH8):c.387C>A (p.Asn129Lys)	MYH8, MYHAS (N129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158888	NM_002472.3(MYH8):c.3789G>C (p.Lys1263Asn)	MYH8, MYHAS (K1263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158881	NM_002472.3(MYH8):c.3672G>T (p.Lys1224Asn)	MYH8, MYHAS (K1224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158873	NM_002472.3(MYH8):c.3633C>G (p.Asp1211Glu)	MYH8, MYHAS (D1211E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158868	NM_002472.3(MYH8):c.3602A>G (p.Asp1201Gly)	LOC126862494, MYH8 +1 more (D1201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158852	NM_002472.3(MYH8):c.3209T>C (p.Met1070Thr)	LOC126862494, MYH8 +1 more (M1070T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158844	NM_002472.3(MYH8):c.3134A>G (p.Lys1045Arg)	LOC126862494, MYH8 +1 more (K1045R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158829	NM_002472.3(MYH8):c.2600C>G (p.Ala867Gly)	MYH8, MYHAS (A867G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158822	NM_002472.3(MYH8):c.2545G>A (p.Glu849Lys)	MYH8, MYHAS (E849K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158803	NM_002472.3(MYH8):c.2024G>A (p.Cys675Tyr)	MYH8, MYHAS (C675Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158798	NM_002472.3(MYH8):c.2011C>T (p.His671Tyr)	MYH8, MYHAS (H671Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158791	NM_002472.3(MYH8):c.1988C>T (p.Thr663Met)	MYH8, MYHAS (T663M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158788	NM_002472.3(MYH8):c.196A>G (p.Thr66Ala)	MYH8, MYHAS (T66A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158771	NM_002472.3(MYH8):c.1571T>A (p.Ile524Asn)	MYH8, MYHAS (I524N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158766	NM_002472.3(MYH8):c.1498G>C (p.Glu500Gln)	MYH8, MYHAS (E500Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158761	NM_002472.3(MYH8):c.140A>G (p.Glu47Gly)	MYH8, MYHAS (E47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158746	NM_002472.3(MYH8):c.130G>A (p.Glu44Lys)	MYH8, MYHAS (E44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158735	NM_002472.3(MYH8):c.1139G>T (p.Gly380Val)	MYH8, MYHAS (G380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158725	NM_002472.3(MYH8):c.1057T>C (p.Tyr353His)	MYH8, MYHAS (Y353H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064986	NM_002472.3(MYH8):c.1804G>A (p.Asp602Asn)	MYH8, MYHAS (D602N)	Single nucleotide variant (missense variant)	Hecht syndrome	GUncertain significance
Select item 3051541	NM_002472.3(MYH8):c.417C>T (p.Pro139=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3047403	NM_002472.3(MYH8):c.4962+7G>A	MYH8, MYHAS	Single nucleotide variant (intron variant)	MYH8-related disorder	GLikely benign
Select item 3045688	NM_002472.3(MYH8):c.4353C>T (p.Asn1451=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3036906	NM_002472.3(MYH8):c.405G>T (p.Pro135=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	MYH8-related disorder	GLikely benign
Select item 3031986	NM_002472.3(MYH8):c.1659C>A (p.Asn553Lys)	MYH8, MYHAS (N553K)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 3030987	NM_002472.3(MYH8):c.355-9T>C	MYH8, MYHAS	Single nucleotide variant (intron variant)	MYH8-related disorder	GLikely benign
Select item 2691543	NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr)	LOC126862494, MYH8 +1 more (K1046T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689502	NM_002472.3(MYH8):c.3803A>T (p.Glu1268Val)	MYH8, MYHAS (E1268V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647473	NM_002472.3(MYH8):c.1548T>C (p.Phe516=)	MYH8, MYHAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647472	NM_002472.3(MYH8):c.4172A>G (p.Glu1391Gly)	MYH8, MYHAS (E1391G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635738	NM_002472.3(MYH8):c.1580T>C (p.Ile527Thr)	MYH8, MYHAS (I527T)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 2634458	NM_002472.3(MYH8):c.2020C>T (p.Arg674Trp)	MYH8, MYHAS (R674W)	Single nucleotide variant (missense variant)	MYH8-related disorder	GUncertain significance
Select item 2630478	NM_002472.3(MYH8):c.2998_2999delinsGC (p.Lys1000Ala)	LOC126862494, MYH8 +1 more (K1000A)	Indel (missense variant)	MYH8-related disorder	GUncertain significance
Select item 2611116	NM_002472.3(MYH8):c.2017G>A (p.Val673Ile)	MYH8, MYHAS (V673I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607305	NM_002472.3(MYH8):c.1937C>T (p.Ser646Phe)	MYH8, MYHAS (S646F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605844	NM_002472.3(MYH8):c.5064C>G (p.Ile1688Met)	MYH8, MYHAS (I1688M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601812	NM_002472.3(MYH8):c.601A>G (p.Ile201Val)	MYH8, MYHAS (I201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599481	NM_002472.3(MYH8):c.3893A>G (p.Asp1298Gly)	MYH8, MYHAS (D1298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556387	NM_002472.3(MYH8):c.4298T>C (p.Leu1433Pro)	MYH8, MYHAS (L1433P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552529	NM_002472.3(MYH8):c.4122G>T (p.Trp1374Cys)	MYH8, MYHAS (W1374C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547606	NM_002472.3(MYH8):c.1726G>A (p.Ala576Thr)	MYH8, MYHAS (A576T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547129	NM_002472.3(MYH8):c.5629A>G (p.Lys1877Glu)	MYH8, MYHAS (K1877E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540061	NM_002472.3(MYH8):c.736C>T (p.Arg246Cys)	MYH8, MYHAS (R246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538002	NM_002472.3(MYH8):c.3977C>T (p.Thr1326Ile)	MYH8, MYHAS (T1326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535346	NM_002472.3(MYH8):c.835C>G (p.Gln279Glu)	MYH8, MYHAS (Q279E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533384	NM_002472.3(MYH8):c.854G>A (p.Ser285Asn)	MYH8, MYHAS (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507960	NM_002472.3(MYH8):c.5531G>A (p.Arg1844Gln)	LOC126862493, MYH8 +1 more (R1844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504789	NM_002472.3(MYH8):c.3790A>G (p.Thr1264Ala)	MYH8, MYHAS (T1264A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502495	NM_002472.3(MYH8):c.4253A>C (p.Glu1418Ala)	MYH8, MYHAS (E1418A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497978	NM_002472.3(MYH8):c.5140G>A (p.Glu1714Lys)	MYH8, MYHAS (E1714K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487127	NM_002472.3(MYH8):c.2273A>G (p.Gln758Arg)	MYH8, MYHAS (Q758R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485864	NM_002472.3(MYH8):c.5538T>A (p.His1846Gln)	LOC126862493, MYH8 +1 more (H1846Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483454	NM_002472.3(MYH8):c.1276G>T (p.Ala426Ser)	MYH8, MYHAS (A426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483453	NM_002472.3(MYH8):c.1271A>C (p.Tyr424Ser)	MYH8, MYHAS (Y424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483452	NM_002472.3(MYH8):c.1270T>A (p.Tyr424Asn)	MYH8, MYHAS (Y424N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480637	NM_002472.3(MYH8):c.2498T>G (p.Met833Arg)	MYH8, MYHAS (M833R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477596	NM_002472.3(MYH8):c.5636A>T (p.Lys1879Ile)	MYH8, MYHAS (K1879I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475904	NM_002472.3(MYH8):c.3667G>A (p.Glu1223Lys)	MYH8, MYHAS (E1223K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464745	NM_002472.3(MYH8):c.365G>A (p.Gly122Asp)	MYH8, MYHAS (G122D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463085	NM_002472.3(MYH8):c.3684G>C (p.Lys1228Asn)	MYH8, MYHAS (K1228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433950	NM_002472.3(MYH8):c.3860C>T (p.Ala1287Val)	MYH8, MYHAS (A1287V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433949	NM_002472.3(MYH8):c.3980A>C (p.Lys1327Thr)	MYH8, MYHAS (K1327T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433947	NM_002472.3(MYH8):c.3101T>C (p.Val1034Ala)	LOC126862494, MYH8 +1 more (V1034A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2384379	NM_002472.3(MYH8):c.3811C>T (p.Arg1271Trp)	MYH8, MYHAS (R1271W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380396	NM_002472.3(MYH8):c.5442G>C (p.Gln1814His)	LOC126862493, MYH8 +1 more (Q1814H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369659	NM_002472.3(MYH8):c.1333C>T (p.Arg445Cys)	MYH8, MYHAS (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366691	NM_002472.3(MYH8):c.2036A>G (p.Asn679Ser)	MYH8, MYHAS (N679S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357057	NM_002472.3(MYH8):c.4808C>T (p.Thr1603Met)	MYH8, MYHAS (T1603M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350680	NM_002472.3(MYH8):c.2825A>G (p.Lys942Arg)	LOC126862494, MYH8 +1 more (K942R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340499	NM_002472.3(MYH8):c.4135G>A (p.Glu1379Lys)	MYH8, MYHAS (E1379K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339562	NM_002472.3(MYH8):c.3392C>T (p.Ser1131Phe)	LOC126862494, MYH8 +1 more (S1131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339426	NM_002472.3(MYH8):c.499T>A (p.Phe167Ile)	MYH8, MYHAS (F167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328788	NM_002472.3(MYH8):c.5572G>C (p.Glu1858Gln)	LOC126862493, MYH8 +1 more (E1858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328369	NM_002472.3(MYH8):c.662A>T (p.Asp221Val)	MYH8, MYHAS (D221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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