"Ambry Genetics"[submitter] AND "HEXB"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2175148	NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)	HEXB (G7E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2473883	NM_000521.4(HEXB):c.34C>T (p.Pro12Ser)	HEXB (P12S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3105535	NM_000521.4(HEXB):c.39G>A (p.Met13Ile)	HEXB (M13I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284145	NM_000521.4(HEXB):c.70G>T (p.Ala24Ser)	HEXB (A24S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 211144	NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)	HEXB (A43S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +3 more	GUncertain significance
Select item 3105531	NM_000521.4(HEXB):c.143T>C (p.Val48Ala)	HEXB (V48A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2615365	NM_000521.4(HEXB):c.158G>A (p.Gly53Glu)	HEXB (G53E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2197478	NM_000521.4(HEXB):c.164C>T (p.Ala55Val)	HEXB (A55V)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +1 more	GConflicting classifications of pathogenicity
Select item 2282556	NM_000521.4(HEXB):c.187G>A (p.Val63Met)	HEXB (V63M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2256269	NM_000521.4(HEXB):c.190A>G (p.Lys64Glu)	HEXB (K64E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 195082	NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)	HEXB (Y104C)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GUncertain significance
Select item 2611631	NM_000521.4(HEXB):c.427A>C (p.Ile143Leu)	HEXB (I143L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469505	NM_000521.4(HEXB):c.514T>G (p.Leu172Val)	HEXB (L172V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2160040	NM_000521.4(HEXB):c.565A>G (p.Ile189Val)	HEXB (I189V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2234308	NM_000521.4(HEXB):c.587A>T (p.Asp196Val)	HEXB (D196V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2047648	NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)	HEXB (P198S)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +1 more	GUncertain significance
Select item 1989925	NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)	HEXB (R211T)	Single nucleotide variant (missense variant +1 more)	Sandhoff disease +2 more	GUncertain significance
Select item 2613256	NM_000521.4(HEXB):c.755C>G (p.Pro252Arg)	HEXB (P252R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339097	NM_000521.4(HEXB):c.766A>C (p.Asn256His)	HEXB (N256H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 985044	NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)	HEXB (G128R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3105525	NM_000521.4(HEXB):c.1061A>C (p.Asp354Ala)	HEXB (D129A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2144233	NM_000521.4(HEXB):c.1104A>C (p.Gln368His)	HEXB (Q143H +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +1 more	GUncertain significance
Select item 3105526	NM_000521.4(HEXB):c.1144A>C (p.Lys382Gln)	HEXB (K157Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459660	NM_000521.4(HEXB):c.1181T>G (p.Ile394Ser)	HEXB (I169S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284148	NM_000521.4(HEXB):c.1201G>A (p.Gly401Arg)	HEXB (G176R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3878	NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	HEXB (P417L +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +3 more	GPathogenic/Likely pathogenic
Select item 2161571	NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)	HEXB (D201N +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +1 more	GUncertain significance
Select item 3105527	NM_000521.4(HEXB):c.1282G>A (p.Ala428Thr)	HEXB (A203T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257482	NM_000521.4(HEXB):c.1327G>A (p.Val443Ile)	HEXB (V443I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105528	NM_000521.4(HEXB):c.1405C>T (p.Leu469Phe)	HEXB (L244F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105529	NM_000521.4(HEXB):c.1415G>A (p.Gly472Asp)	HEXB (G247D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3105530	NM_000521.4(HEXB):c.1425GAAACA[3] (p.Gln479_Leu480insLysGln)	HEXB	Microsatellite (inframe_insertion)	Inborn genetic diseases	GUncertain significance
Select item 553043	NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])	HEXB	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1583078	NM_000521.4(HEXB):c.1437A>C (p.Gln479His)	HEXB (Q254H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2187043	NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)	HEXB (E266G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 527971	NM_000521.4(HEXB):c.1509-26G>A	HEXB	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2607096	NM_000521.4(HEXB):c.1559G>C (p.Arg520Thr)	HEXB (R520T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2201257	NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)	HEXB (R535G +1 more)	Single nucleotide variant (missense variant)	Sandhoff disease +1 more	GUncertain significance
Select item 354137	NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys)	HEXB (E538K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3105533	NM_000521.4(HEXB):c.1622T>C (p.Ile541Thr)	HEXB (I316T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284147	NM_000521.4(HEXB):c.1625C>A (p.Ala542Asp)	HEXB (A542D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281949	NM_000521.4(HEXB):c.1654A>C (p.Asn552His)	HEXB (N552H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 42