LOC107648851[gene] - ClinVar

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Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2091739	NM_001290043.2(TAP2):c.739+20T>A	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1628626	NM_001290043.2(TAP2):c.739+19G>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2026639	NM_001290043.2(TAP2):c.739+18G>C	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 403517	NM_001290043.2(TAP2):c.739+12A>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency +2 more	GBenign
Select item 1529826	NM_001290043.2(TAP2):c.739+10G>A	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1159912	NM_001290043.2(TAP2):c.739+9T>G	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1998691	NM_001290043.2(TAP2):c.736A>G (p.Thr246Ala)	LOC107648851, TAP2 (T246A)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2093409	NM_001290043.2(TAP2):c.730A>G (p.Thr244Ala)	LOC107648851, TAP2 (T244A)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2016287	NM_001290043.2(TAP2):c.728A>G (p.Glu243Gly)	LOC107648851, TAP2 (E243G)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 575479	NM_001290043.2(TAP2):c.727G>A (p.Glu243Lys)	LOC107648851, TAP2 (E243K)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2033577	NM_001290043.2(TAP2):c.724C>T (p.Gln242Ter)	LOC107648851, TAP2 (Q242*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 864156	NM_001290043.2(TAP2):c.715G>A (p.Gly239Ser)	LOC107648851, TAP2 (G239S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1104969	NM_001290043.2(TAP2):c.714C>T (p.Leu238=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1380523	NM_001290043.2(TAP2):c.704G>A (p.Arg235His)	LOC107648851, TAP2 (R235H)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 566833	NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys)	LOC107648851, TAP2 (R235C)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 574783	NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln)	LOC107648851, TAP2 (L234Q)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 2701692	NM_001290043.2(TAP2):c.690C>T (p.Phe230=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2973133	NM_001290043.2(TAP2):c.687T>G (p.Leu229=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1108557	NM_001290043.2(TAP2):c.684G>A (p.Gln228=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1057617	NM_001290043.2(TAP2):c.677G>A (p.Arg226Gln)	LOC107648851, TAP2 (R226Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 828011	NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp)	LOC107648851, TAP2 (R226W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1552463	NM_001290043.2(TAP2):c.672G>T (p.Arg224=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2066745	NM_001290043.2(TAP2):c.670C>T (p.Arg224Trp)	LOC107648851, TAP2 (R224W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2740995	NM_001290043.2(TAP2):c.667T>C (p.Leu223=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1524861	NM_001290043.2(TAP2):c.665A>G (p.Asn222Ser)	LOC107648851, TAP2 (N222S)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 836991	NM_001290043.2(TAP2):c.661A>G (p.Ile221Val)	LOC107648851, TAP2 (I221V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2167144	NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)	LOC107648851, TAP2 (R220Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2136377	NM_001290043.2(TAP2):c.658C>T (p.Arg220Ter)	LOC107648851, TAP2 (R220*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
Select item 466374	NM_001290043.2(TAP2):c.658C>A (p.Arg220=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	TAP2-related condition +1 more	GBenign
Select item 534711	NM_001290043.2(TAP2):c.656C>T (p.Ser219Phe)	LOC107648851, TAP2 (S219F)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2577009	NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)	LOC107648851, TAP2 (R210Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1932615	NM_001290043.2(TAP2):c.620C>T (p.Ala207Val)	LOC107648851, TAP2 (A207V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2758950	NM_001290043.2(TAP2):c.609-7C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2191100	NM_001290043.2(TAP2):c.609-7C>G	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GUncertain significance
Select item 2808213	NM_001290043.2(TAP2):c.609-14C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 2766501	NM_001290043.2(TAP2):c.609-16T>C	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1647396	NM_001290043.2(TAP2):c.609-19T>C	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1587549	NM_001290043.2(TAP2):c.608+15G>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1168814	NM_001290043.2(TAP2):c.608+8G>A	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency +1 more	GBenign
Select item 1169305	NM_001290043.2(TAP2):c.608+7G>A	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign
Select item 1463648	NM_001290043.2(TAP2):c.606C>T (p.Gly202=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GUncertain significance
Select item 2014869	NM_001290043.2(TAP2):c.594C>G (p.Leu198=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 2733738	NM_001290043.2(TAP2):c.591C>T (p.Cys197=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 950111	NM_001290043.2(TAP2):c.580T>G (p.Phe194Val)	LOC107648851, TAP2 (F194V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1148635	NM_001290043.2(TAP2):c.576C>T (p.Ala192=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 1347125	NM_001290043.2(TAP2):c.561T>G (p.His187Gln)	LOC107648851, TAP2 (H187Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1905405	NM_001290043.2(TAP2):c.552T>C (p.Phe184=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 725117	NM_001290043.2(TAP2):c.537C>T (p.Ile179=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 569565	NM_001290043.2(TAP2):c.529A>T (p.Ile177Phe)	LOC107648851, TAP2 (I177F)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2527064	NM_001290043.2(TAP2):c.526G>C (p.Val176Leu)	LOC107648851, TAP2 (V176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057151	NM_001290043.2(TAP2):c.526G>A (p.Val176Met)	LOC107648851, TAP2 (V176M)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1004055	NM_001290043.2(TAP2):c.524G>A (p.Arg175His)	LOC107648851, TAP2 (R175H)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 2319993	NM_001290043.2(TAP2):c.515A>C (p.Tyr172Ser)	LOC107648851, TAP2 (Y172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023763	NM_001290043.2(TAP2):c.515A>T (p.Tyr172Phe)	LOC107648851, TAP2 (Y172F)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1368897	NM_001290043.2(TAP2):c.513C>G (p.His171Gln)	LOC107648851, TAP2 (H171Q)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1437843	NM_001290043.2(TAP2):c.494G>A (p.Gly165Asp)	LOC107648851, TAP2 (G165D)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 1480495	NM_001290043.2(TAP2):c.494-2A>G	LOC107648851, TAP2	Single nucleotide variant (splice acceptor variant)	MHC class I deficiency	GLikely pathogenic
Select item 2189714	NM_001290043.2(TAP2):c.494-10C>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1168342	NM_001290043.2(TAP2):c.494-11G>T	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign
Select item 1548327	NM_001290043.2(TAP2):c.494-13A>G	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 1334921	NM_001290043.2(TAP2):c.494-42G>C	LOC107648851, TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GBenign

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Items: 62