Related gene-specific medical variations for Gene (Select 9354) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337728	NM_001204077.2(UBE4A):c.2412+2dup	LOC100131626, UBE4A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3336196	NM_001204077.2(UBE4A):c.2121T>A (p.Arg707=)	UBE4A, LOC100131626	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3330618	NM_001204077.2(UBE4A):c.1886C>T (p.Ala629Val)	LOC100131626, UBE4A (A636V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330616	NM_001204077.2(UBE4A):c.1978T>C (p.Phe660Leu)	LOC100131626, UBE4A (F660L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330615	NM_001204077.2(UBE4A):c.2002A>G (p.Ile668Val)	LOC100131626, UBE4A (I675V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330614	NM_001204077.2(UBE4A):c.2285G>A (p.Arg762Gln)	LOC100131626, UBE4A (R762Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185627	NM_001204077.2(UBE4A):c.2834C>T (p.Ala945Val)	LOC100131626, UBE4A (A952V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185625	NM_001204077.2(UBE4A):c.2322G>C (p.Lys774Asn)	LOC100131626, UBE4A (K774N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185624	NM_001204077.2(UBE4A):c.2185A>G (p.Ile729Val)	LOC100131626, UBE4A (I729V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185623	NM_001204077.2(UBE4A):c.2120G>A (p.Arg707His)	LOC100131626, UBE4A (R714H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185622	NM_001204077.2(UBE4A):c.2019T>A (p.Asn673Lys)	LOC100131626, UBE4A (N673K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384921	NM_001204077.2(UBE4A):c.2114G>A (p.Arg705Gln)	LOC100131626, UBE4A (R705Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383464	NM_001204077.2(UBE4A):c.2453G>A (p.Arg818Gln)	LOC100131626, UBE4A (R818Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380049	NM_001204077.2(UBE4A):c.3157C>T (p.Arg1053Trp)	LOC100131626, UBE4A (R1053W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301668	NM_001204077.2(UBE4A):c.2989A>T (p.Met997Leu)	LOC100131626, UBE4A (M1004L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293835	NM_001204077.2(UBE4A):c.2786G>A (p.Cys929Tyr)	LOC100131626, UBE4A (C936Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269538	NM_001204077.2(UBE4A):c.2072T>C (p.Leu691Pro)	LOC100131626, UBE4A (L691P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224870	NM_001204077.2(UBE4A):c.1918C>T (p.Arg640Cys)	LOC100131626, UBE4A (R640C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 726887	NM_001204077.2(UBE4A):c.2835A>G (p.Ala945=)	LOC100131626, UBE4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 403581	NM_001204077.2(UBE4A):c.2412+23del	LOC100131626, UBE4A	Deletion (intron variant)	not specified	GBenign

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Items: 20