ClinVar for Gene (Select 7532) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370224	NM_012479.4(YWHAG):c.607G>A (p.Asp203Asn)	YWHAG (D203N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369481	NM_012479.4(YWHAG):c.493dup (p.Met165fs)	YWHAG (M165fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3359022	NM_012479.4(YWHAG):c.532A>G (p.Asn178Asp)	YWHAG (N178D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 3346639	NM_012479.4(YWHAG):c.387_394dup (p.Arg132fs)	YWHAG (R132fs)	Duplication (frameshift variant)	YWHAG-related disorder	GUncertain significance
Select item 3339914	NC_000007.13:g.(?_75956115)_(75988309_?)del	YWHAG	Deletion	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 3191673	NM_012479.4(YWHAG):c.83A>G (p.Lys28Arg)	YWHAG (K28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191672	NM_012479.4(YWHAG):c.721G>A (p.Asp241Asn)	YWHAG (D241N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2959810	NM_012479.4(YWHAG):c.636C>T (p.Asn212=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913111	NM_012479.4(YWHAG):c.345C>T (p.Thr115=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877356	NM_012479.4(YWHAG):c.543C>T (p.Val181=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867278	NM_012479.4(YWHAG):c.121del (p.Glu41fs)	YWHAG (E41fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2865241	NM_012479.4(YWHAG):c.64G>A (p.Asp22Asn)	YWHAG (D22N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845799	NM_012479.4(YWHAG):c.631del (p.Leu211fs)	YWHAG (L211fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2844428	NM_012479.4(YWHAG):c.491A>G (p.His164Arg)	YWHAG (H164R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831365	NM_012479.4(YWHAG):c.-144_72del (p.Met1_Ala24del)	YWHAG	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 2827317	NM_012479.4(YWHAG):c.542T>C (p.Val181Ala)	YWHAG (V181A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2824092	NM_012479.4(YWHAG):c.36G>C (p.Arg12=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818040	NM_012479.4(YWHAG):c.624T>G (p.Leu208=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816056	NM_012479.4(YWHAG):c.529C>T (p.Leu177Phe)	YWHAG (L177F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2809261	NM_012479.4(YWHAG):c.384G>A (p.Gly128=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781891	NM_012479.4(YWHAG):c.87+15C>T	YWHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779753	NM_012479.4(YWHAG):c.87+17C>T	YWHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769736	NM_012479.4(YWHAG):c.256C>T (p.Arg86Trp)	YWHAG (R86W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766210	NM_012479.4(YWHAG):c.560A>T (p.Gln187Leu)	YWHAG (Q187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751074	NM_012479.4(YWHAG):c.301C>G (p.Leu101Val)	YWHAG (L101V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748386	NM_012479.4(YWHAG):c.687C>A (p.Asn229Lys)	YWHAG (N229K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747265	NM_012479.4(YWHAG):c.619G>A (p.Glu207Lys)	YWHAG (E207K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735172	NM_012479.4(YWHAG):c.146A>C (p.Tyr49Ser)	YWHAG (Y49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728068	NM_012479.4(YWHAG):c.399C>T (p.Tyr133=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727784	NM_012479.4(YWHAG):c.225T>C (p.Asn75=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727085	NM_012479.4(YWHAG):c.541G>A (p.Val181Ile)	YWHAG (V181I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2724727	NM_012479.4(YWHAG):c.327C>T (p.Ile109=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723108	NM_012479.4(YWHAG):c.6G>T (p.Val2=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719944	NM_012479.4(YWHAG):c.720C>T (p.Asp240=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719624	NM_012479.4(YWHAG):c.555G>A (p.Glu185=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713430	NM_012479.4(YWHAG):c.648_671del (p.Tyr216_Gln224delinsTer)	YWHAG	Deletion (nonsense)	not provided	GUncertain significance
Select item 2702194	NM_012479.4(YWHAG):c.597C>A (p.Thr199=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701738	NM_012479.4(YWHAG):c.256C>G (p.Arg86Gly)	YWHAG (R86G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697283	NM_012479.4(YWHAG):c.87+15C>G	YWHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657623	NM_012479.4(YWHAG):c.471C>T (p.Ala157=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635437	NM_012479.4(YWHAG):c.397_406dup (p.Glu136delinsValProGlyTer)	YWHAG	Duplication (nonsense)	YWHAG-related disorder	GUncertain significance
Select item 2584359	NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)	YWHAG	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 56	GLikely pathogenic
Select item 2573568	NM_012479.4(YWHAG):c.88-1G>A	YWHAG	Single nucleotide variant (splice acceptor variant)	not specified	GUncertain significance
Select item 2472649	NM_012479.4(YWHAG):c.431C>T (p.Ala144Val)	YWHAG (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444788	NM_012479.4(YWHAG):c.566C>A (p.Ala189Asp)	YWHAG (A189D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425827	NC_000007.13:g.(?_75958894)_(75959570_?)dup	YWHAG	Duplication	not provided	GUncertain significance
Select item 2425826	NC_000007.13:g.(?_75988019)_(75988125_?)dup	YWHAG	Duplication	not provided	GUncertain significance
Select item 2425825	NC_000007.13:g.(?_75583311)_(75988125_?)dup	HSPB1, MDH2 +5 more	Duplication	not provided	GUncertain significance
Select item 2425824	NC_000007.13:g.(?_75958894)_(75959570_?)del	YWHAG	Deletion	not provided	GUncertain significance
Select item 2425823	NC_000007.13:g.(?_75988019)_(75988125_?)del	YWHAG	Deletion	not provided	GPathogenic
Select item 2418754	NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)	YWHAG (A193V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 56 +1 more	GConflicting classifications of pathogenicity
Select item 2417956	NM_012479.4(YWHAG):c.597C>T (p.Thr199=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193545	NM_012479.4(YWHAG):c.251C>T (p.Ala84Val)	YWHAG (A84V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181853	NM_012479.4(YWHAG):c.711G>A (p.Gln237=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174712	NM_012479.4(YWHAG):c.418G>A (p.Gly140Arg)	YWHAG (G140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149694	NM_012479.4(YWHAG):c.681C>T (p.Arg227=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145671	NM_012479.4(YWHAG):c.247C>T (p.Arg83Cys)	YWHAG (R83C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144736	NM_012479.4(YWHAG):c.189C>T (p.Ile63=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144118	NM_012479.4(YWHAG):c.351C>T (p.Tyr117=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2141464	NM_012479.4(YWHAG):c.84G>A (p.Lys28=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136511	NM_012479.4(YWHAG):c.252G>T (p.Ala84=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134616	NM_012479.4(YWHAG):c.507C>T (p.His169=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124192	NM_012479.4(YWHAG):c.634_645del (p.Asn212_Ser215del)	YWHAG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2121137	NM_012479.4(YWHAG):c.113C>T (p.Ser38Leu)	YWHAG (S38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116313	NM_012479.4(YWHAG):c.160G>A (p.Gly54Arg)	YWHAG (G54R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109351	NM_012479.4(YWHAG):c.257G>A (p.Arg86Gln)	YWHAG (R86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108569	NM_012479.4(YWHAG):c.425A>G (p.Lys142Arg)	YWHAG (K142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103598	NM_012479.4(YWHAG):c.383_385dup (p.Gly128_Asp129insGly)	YWHAG	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2102591	NM_012479.4(YWHAG):c.741T>C (p.Asn247=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097789	NM_012479.4(YWHAG):c.687C>T (p.Asn229=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092355	NM_012479.4(YWHAG):c.7G>A (p.Asp3Asn)	YWHAG (D3N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088488	NM_012479.4(YWHAG):c.462C>G (p.Tyr154Ter)	YWHAG (Y154*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2083360	NM_012479.4(YWHAG):c.120G>A (p.Glu40=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071615	NM_012479.4(YWHAG):c.123A>G (p.Glu41=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065790	NM_012479.4(YWHAG):c.432G>A (p.Ala144=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062722	NM_012479.4(YWHAG):c.204G>A (p.Gln68=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061321	NM_012479.4(YWHAG):c.583C>T (p.His195Tyr)	YWHAG (H195Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059671	NM_012479.4(YWHAG):c.585C>T (p.His195=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056700	NM_012479.4(YWHAG):c.180G>A (p.Trp60Ter)	YWHAG (W60*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2053736	NM_012479.4(YWHAG):c.438G>T (p.Val146=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051862	NM_012479.4(YWHAG):c.522C>T (p.Gly174=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2048564	NM_012479.4(YWHAG):c.348G>A (p.Gln116=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042539	NM_012479.4(YWHAG):c.219C>T (p.Asp73=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037689	NM_012479.4(YWHAG):c.30A>G (p.Lys10=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037339	NM_012479.4(YWHAG):c.285T>C (p.Ala95=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2034563	NM_012479.4(YWHAG):c.576dup (p.Ala193fs)	YWHAG (A193fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2029922	NM_012479.4(YWHAG):c.1A>G (p.Met1Val)	YWHAG (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2013349	NM_012479.4(YWHAG):c.518T>G (p.Leu173Ter)	YWHAG (L173*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2006743	NM_012479.4(YWHAG):c.210A>G (p.Thr70=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003961	NM_012479.4(YWHAG):c.87+17C>A	YWHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990753	NM_012479.4(YWHAG):c.63C>T (p.Asp21=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987637	NM_012479.4(YWHAG):c.612C>T (p.Ala204=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985122	NM_012479.4(YWHAG):c.321C>T (p.Tyr107=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976992	NM_012479.4(YWHAG):c.717C>T (p.Asp239=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974207	NM_012479.4(YWHAG):c.435G>A (p.Thr145=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972620	NM_012479.4(YWHAG):c.616G>A (p.Ala206Thr)	YWHAG (A206T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954980	NM_012479.4(YWHAG):c.324G>A (p.Leu108=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939833	NM_012479.4(YWHAG):c.567C>A (p.Ala189=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905806	NM_012479.4(YWHAG):c.129C>T (p.Asn43=)	YWHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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