C1858266[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13726	NM_001290043.2(TAP2):c.2059= (p.Ter687=)	TAP2 (Q687*)	Single nucleotide variant (nonsense +2 more)	MHC class I deficiency	GBenign
Select item 13725	NM_001290043.2(TAP2):c.1993= (p.Thr665=)	TAP2 (A665T)	Single nucleotide variant (intron variant +2 more)	MHC class I deficiency	GBenign
Select item 13724	NM_001290043.2(TAP2):c.1135G>A (p.Val379Ile)	TAP2 (V379I)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GBenign
Select item 13728	NM_001290043.2(TAP2):c.979del (p.Arg327fs)	TAP2 (R327fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 13727	NM_001290043.2(TAP2):c.817C>T (p.Arg273Ter)	TAP2 (R273*)	Single nucleotide variant (nonsense)	MHC class I deficiency	GPathogenic
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 13730	NM_000593.6(TAP1):c.1910A>G (p.Asp637Gly)	TAP1 (D697G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 13729	NM_000593.6(TAP1):c.997A>G (p.Ile333Val)	TAP1 (I393V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 13732	NM_000593.6(TAP1):c.599-1G>A	TAP1	Single nucleotide variant (splice acceptor variant)	MHC class I deficiency	GPathogenic
Select item 7606	NM_003190.5(TAPBP):c.469+3326_1336-732del	TAPBP	Deletion (splice acceptor variant +1 more)	MHC class I deficiency	GPathogenic