ClinVar for MedGen (Select 442484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3897560	NM_002471.4(MYH6):c.2951T>G (p.Met984Arg)	MYH6 (M984R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +1 more	GUncertain significance
Select item 3876447	NM_002471.4(MYH6):c.4303G>C (p.Glu1435Gln)	MYH6 (E1435Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1EE +5 more	GUncertain significance
Select item 3730520	NM_002471.4(MYH6):c.5056G>A (p.Glu1686Lys)	LOC126861896, MYH6 (E1686K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3730157	NM_002471.4(MYH6):c.3978+14G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3729349	NM_002471.4(MYH6):c.4116G>A (p.Gln1372=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3728092	NM_002471.4(MYH6):c.4526-6C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3727864	NM_002471.4(MYH6):c.3105+16C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3727503	NM_002471.4(MYH6):c.1411-7C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3727097	NM_002471.4(MYH6):c.624C>T (p.Asp208=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3726884	NM_002471.4(MYH6):c.5164-16C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3726703	NM_002471.4(MYH6):c.1498GAG[1] (p.Glu501del)	MYH6 (E501del)	Microsatellite	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3726130	NM_002471.4(MYH6):c.899-16C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3726127	NM_002471.4(MYH6):c.2366_2375del (p.Arg789fs)	MYH6 (R789fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3725506	NM_002471.4(MYH6):c.5289+4A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3724897	NM_002471.4(MYH6):c.5691G>A (p.Lys1897=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3722532	NM_002471.4(MYH6):c.4360-3C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3721762	NM_002471.4(MYH6):c.799+7A>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3719260	NM_002471.4(MYH6):c.4548G>C (p.Glu1516Asp)	MYH6 (E1516D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3719042	NM_002471.4(MYH6):c.4795C>A (p.Leu1599Met)	LOC126861896, MYH6 (L1599M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3717985	NM_002471.4(MYH6):c.3574G>A (p.Ala1192Thr)	MYH6 (A1192T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14 +1 more	GUncertain significance
Select item 3717831	NM_002471.4(MYH6):c.1581+11G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3717703	NM_002471.4(MYH6):c.4959+11_4959+30del	LOC126861896, MYH6	Deletion (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3717650	NM_002471.4(MYH6):c.3673G>A (p.Glu1225Lys)	MYH6 (E1225K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3717472	NM_002471.4(MYH6):c.450C>A (p.Ala150=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3716235	NM_002471.4(MYH6):c.3251+6A>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3715944	NM_002471.4(MYH6):c.2912A>G (p.His971Arg)	MYH6 (H971R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3715333	NM_002471.4(MYH6):c.5163+17C>T	LOC126861896, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3715109	NM_002471.4(MYH6):c.877A>T (p.Asn293Tyr)	MYH6 (N293Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3714498	NM_002471.4(MYH6):c.3786C>G (p.Arg1262=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3713849	NM_002471.4(MYH6):c.3475A>G (p.Thr1159Ala)	MYH6 (T1159A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3713148	NM_002471.4(MYH6):c.5123T>G (p.Leu1708Arg)	LOC126861896, MYH6 (L1708R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3712310	NM_002471.4(MYH6):c.3756G>A (p.Arg1252=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3712059	NM_002471.4(MYH6):c.3252-19C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3710507	NM_002471.4(MYH6):c.723C>T (p.Asn241=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3709587	NM_002471.4(MYH6):c.2928+18T>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3708413	NM_002471.4(MYH6):c.2217T>G (p.Asp739Glu)	MYH6 (D739E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3707970	NM_002471.4(MYH6):c.224A>G (p.Gln75Arg)	LOC114827851, MYH6 (Q75R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3707785	NM_002471.4(MYH6):c.4420A>G (p.Lys1474Glu)	MYH6 (K1474E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3706850	NM_002471.4(MYH6):c.1286C>T (p.Ala429Val)	MYH6 (A429V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3706784	NM_002471.4(MYH6):c.5164-15T>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3706474	NM_002471.4(MYH6):c.3507C>T (p.Arg1169=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3705485	NM_002471.4(MYH6):c.50G>C (p.Arg17Pro)	LOC114827851, MYH6 (R17P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3703845	NM_002471.4(MYH6):c.5706G>A (p.Gln1902=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3703605	NM_002471.4(MYH6):c.1662C>A (p.Tyr554Ter)	MYH6 (Y554*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3703429	NM_002471.4(MYH6):c.3105+18T>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3703173	NM_002471.4(MYH6):c.2590A>G (p.Thr864Ala)	MYH6 (T864A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3703172	NM_002471.4(MYH6):c.2595G>A (p.Leu865=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3702595	NM_002471.4(MYH6):c.3252-16C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3702472	NM_002471.4(MYH6):c.4525+12G>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3702294	NM_002471.4(MYH6):c.3012C>A (p.Ala1004=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3702013	NM_002471.4(MYH6):c.201G>A (p.Lys67=)	LOC114827851, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3699677	NM_002471.4(MYH6):c.807G>A (p.Leu269=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3699383	NM_002471.4(MYH6):c.2328G>A (p.Glu776=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3698105	NM_002471.4(MYH6):c.4738G>A (p.Glu1580Lys)	MYH6, LOC126861896 (E1580K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3697219	NM_002471.4(MYH6):c.2685+17A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3696229	NM_002471.4(MYH6):c.1513G>A (p.Glu505Lys)	MYH6 (E505K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3696187	NM_002471.4(MYH6):c.101G>C (p.Arg34Pro)	LOC114827851, MYH6 (R34P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3695224	NM_002471.4(MYH6):c.345+16A>G	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3695218	NM_002471.4(MYH6):c.329C>A (p.Ala110Glu)	LOC114827851, MYH6 (A110E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3694934	NM_002471.4(MYH6):c.4981G>T (p.Asp1661Tyr)	LOC126861896, MYH6 (D1661Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3694763	NM_002471.4(MYH6):c.3342+15C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3694635	NM_002471.4(MYH6):c.2685+11G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3694562	NM_002471.4(MYH6):c.2858A>G (p.Lys953Arg)	MYH6 (K953R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3693645	NM_002471.4(MYH6):c.1130A>G (p.Asp377Gly)	MYH6 (D377G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3692641	NM_002471.4(MYH6):c.3733-8T>C	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3687196	NM_002471.4(MYH6):c.3733-11G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3686805	NM_002471.4(MYH6):c.5647C>T (p.Gln1883Ter)	MYH6 (Q1883*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3686490	NM_002471.4(MYH6):c.1776G>C (p.Leu592=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3685523	NM_002471.4(MYH6):c.4576C>T (p.His1526Tyr)	MYH6 (H1526Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3684763	NM_002471.4(MYH6):c.1892-17C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3679917	NM_002471.4(MYH6):c.3640C>T (p.Arg1214Trp)	MYH6 (R1214W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3679007	NM_002471.4(MYH6):c.1892G>C (p.Gly631Ala)	MYH6 (G631A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3674741	NM_002471.4(MYH6):c.1581+20A>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3671964	NM_002471.4(MYH6):c.2430-19C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3671486	NM_002471.4(MYH6):c.5160C>T (p.Ser1720=)	LOC126861896, MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3670516	NM_002471.4(MYH6):c.5491G>C (p.Glu1831Gln)	MYH6 (E1831Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3669550	NM_002471.4(MYH6):c.1080C>A (p.Tyr360Ter)	MYH6 (Y360*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3669393	NM_002471.4(MYH6):c.3334G>A (p.Glu1112Lys)	MYH6 (E1112K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3668842	NM_002471.4(MYH6):c.1745A>G (p.His582Arg)	MYH6 (H582R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3666751	NM_002471.4(MYH6):c.3949C>A (p.Leu1317Ile)	MYH6 (L1317I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3665710	NM_002471.4(MYH6):c.1411-19C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3665549	NM_002471.4(MYH6):c.871C>T (p.Leu291=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3664956	NM_002471.4(MYH6):c.3979-12C>T	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3664731	NM_002471.4(MYH6):c.3436GAG[1] (p.Glu1147del)	MYH6 (E1147del)	Microsatellite	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3663951	NM_002471.4(MYH6):c.346-16T>C	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3663861	NM_002471.4(MYH6):c.4175+8C>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3661887	NM_002471.4(MYH6):c.5119G>C (p.Glu1707Gln)	MYH6, LOC126861896 (E1707Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3661030	NM_002471.4(MYH6):c.3022G>A (p.Ala1008Thr)	MYH6 (A1008T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3659204	NM_002471.4(MYH6):c.4589A>T (p.Lys1530Met)	MYH6 (K1530M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3658595	NM_002471.4(MYH6):c.5575G>C (p.Asp1859His)	MYH6 (D1859H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3657211	NM_002471.4(MYH6):c.2557A>T (p.Thr853Ser)	MYH6 (T853S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3656335	NM_002471.4(MYH6):c.2575_2577delinsACA (p.Gly859Thr)	MYH6 (G859T)	Indel (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3654733	NM_002471.4(MYH6):c.1990C>A (p.Leu664Met)	MYH6 (L664M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3654123	NM_002471.4(MYH6):c.3138G>T (p.Val1046=)	MYH6	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 14	GLikely benign
Select item 3653970	NM_002471.4(MYH6):c.5009A>G (p.Lys1670Arg)	LOC126861896, MYH6 (K1670R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3653481	NM_002471.4(MYH6):c.4393delinsACCTGCCCGTGAAGAGGCGGGCATGACACAGCAAGACGAGAAGACCCTATGGAGCTTTAATTTATTAATGCAAACAGTACCTAACAAACAGA (p.Ser1465delinsThrCysProTer)	MYH6	Indel (nonsense)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3650745	NM_002471.4(MYH6):c.3732+5G>A	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3650736	NM_002471.4(MYH6):c.3342+5C>G	MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3650466	NM_002471.4(MYH6):c.531-9G>A	LOC114827851, MYH6	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 14	GUncertain significance
Select item 3649807	NM_002471.4(MYH6):c.4187C>T (p.Ala1396Val)	MYH6 (A1396V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 14	GUncertain significance

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