"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13731	NM_000593.6(TAP1):c.1976G>A (p.Arg659Gln)	TAP1 (R719Q +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GLikely benign
Select item 712828	NM_000593.6(TAP1):c.1927C>T (p.Leu643=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 466379	NM_000593.6(TAP1):c.1133G>A (p.Arg378Gln)	TAP1 (R438Q +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 534731	NM_000593.6(TAP1):c.1051-3C>T	TAP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1328017	NM_000593.6(TAP1):c.955A>C (p.Ile319Leu)	TAP1 (I118L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 466391	NM_000593.6(TAP1):c.730G>T (p.Val244Leu)	TAP1 (V304L +2 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign
Select item 534723	NM_000593.6(TAP1):c.465C>T (p.His155=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign

ClinVar