"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 636814	NM_001290043.2(TAP2):c.1417G>A (p.Val473Ile)	TAP2 (V473I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 626026	NM_001290043.2(TAP2):c.1158G>T (p.Gly386=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GBenign
Select item 2501760	NM_001290043.2(TAP2):c.1144-5delinsAC	TAP2	Indel (intron variant)	MHC class I deficiency	GUncertain significance
Select item 466363	NM_001290043.2(TAP2):c.1144-6_1144-5delinsAC	TAP2	Indel (intron variant)	MHC class I deficiency	GConflicting classifications of pathogenicity
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 626224	NM_001290043.2(TAP2):c.217_218del (p.Thr73fs)	TAP2 (T73fs)	Deletion (frameshift variant)	MHC class I deficiency	GLikely pathogenic

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