"Baylor Genetics"[submitter] AND "TAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582316	NM_000593.6(TAP1):c.887G>A (p.Ser296Asn)	TAP1 (S296N +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 935274	NM_000593.6(TAP1):c.302C>T (p.Ala101Val)	TAP1 (A101V)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic

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