ClinVar for Gene (Select 100131626) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3131795	NM_006476.5(ATP5MG):c.80T>C (p.Leu27Ser)	ATP5MG, LOC100131626 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131794	NM_006476.5(ATP5MG):c.79T>A (p.Leu27Met)	ATP5MG, LOC100131626 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131793	NM_006476.5(ATP5MG):c.77G>T (p.Arg26Leu)	ATP5MG, LOC100131626 (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131792	NM_006476.5(ATP5MG):c.38C>T (p.Pro13Leu)	ATP5MG, LOC100131626 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131791	NM_006476.5(ATP5MG):c.29A>C (p.Glu10Ala)	ATP5MG, LOC100131626 (E10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131790	NM_006476.5(ATP5MG):c.286C>T (p.Arg96Trp)	ATP5MG, LOC100131626 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131789	NM_006476.5(ATP5MG):c.184A>T (p.Thr62Ser)	ATP5MG, LOC100131626 (T62S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131788	NM_006476.5(ATP5MG):c.149T>C (p.Ile50Thr)	ATP5MG, LOC100131626 (I50T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131787	NM_006476.5(ATP5MG):c.128C>A (p.Pro43His)	ATP5MG, LOC100131626 (P43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545119	NM_006476.5(ATP5MG):c.173A>G (p.Asn58Ser)	ATP5MG, LOC100131626 (N58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477498	NM_006476.5(ATP5MG):c.235G>A (p.Val79Met)	ATP5MG, LOC100131626 (V79M)	Single nucleotide variant (missense variant +1 more)	not specified	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
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130006854, LOC130006855 +499 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	ABCG4, ACRV1 +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	ABCG4, APOA1 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34