"PreventionGenetics, part of Exact Sciences"[submitter] AND "TAP2"[gen - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060503	NM_018833.3(TAP2):c.*7A>G	TAP2	Single nucleotide variant (3 prime UTR variant)	TAP2-related disorder	GBenign
Select item 403507	NM_018833.3(TAP2):c.1939C>T (p.Leu647Phe)	TAP2 (L647F)	Single nucleotide variant (missense variant)	TAP2-related disorder +1 more	GBenign
Select item 3042978	NM_018833.3(TAP2):c.1933-7_1933-5dup	TAP2	Duplication (intron variant)	TAP2-related disorder	GLikely benign
Select item 744370	NM_001290043.2(TAP2):c.1932C>T (p.Ala644=)	TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +1 more	GLikely benign
Select item 403514	NM_001290043.2(TAP2):c.1800A>C (p.Val600=)	TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +2 more	GBenign
Select item 1146836	NM_001290043.2(TAP2):c.1795+8C>T	TAP2	Single nucleotide variant (intron variant)	TAP2-related disorder +1 more	GLikely benign
Select item 534719	NM_001290043.2(TAP2):c.1462-7T>C	TAP2	Single nucleotide variant (intron variant)	TAP2-related disorder +1 more	GBenign/Likely benign
Select item 768076	NM_001290043.2(TAP2):c.1399G>A (p.Val467Ile)	TAP2 (V467I)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GBenign
Select item 768077	NM_001290043.2(TAP2):c.1398G>A (p.Gly466=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GBenign
Select item 466366	NM_001290043.2(TAP2):c.1374G>A (p.Thr458=)	TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +1 more	GBenign
Select item 1611771	NM_001290043.2(TAP2):c.1272+7G>A	TAP2	Single nucleotide variant (intron variant)	TAP2-related disorder +1 more	GLikely benign
Select item 466365	NM_001290043.2(TAP2):c.1161G>A (p.Val387=)	TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +1 more	GBenign
Select item 768078	NM_001290043.2(TAP2):c.1144-5T>C	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency +1 more	GBenign
Select item 768079	NM_001290043.2(TAP2):c.1144-6T>A	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency +1 more	GBenign
Select item 466362	NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr)	TAP2 (A374T)	Single nucleotide variant (missense variant)	TAP2-related disorder +1 more	GBenign/Likely benign
Select item 534728	NM_001290043.2(TAP2):c.970G>A (p.Ala324Thr)	TAP2 (A324T)	Single nucleotide variant (missense variant)	TAP2-related disorder +1 more	GLikely benign
Select item 2164747	NM_001290043.2(TAP2):c.814T>C (p.Leu272=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GLikely benign
Select item 466374	NM_001290043.2(TAP2):c.658C>A (p.Arg220=)	LOC107648851, TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +1 more	GBenign
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 709636	NM_001290043.2(TAP2):c.336C>T (p.Ser112=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency +1 more	GBenign/Likely benign
Select item 737741	NM_001290043.2(TAP2):c.294T>G (p.Pro98=)	TAP2	Single nucleotide variant (synonymous variant)	TAP2-related disorder +1 more	GLikely benign
Select item 788187	NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)	TAP2 (G47R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 22