C1858266[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534713	NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile)	TAP2 (M592I)	Single nucleotide variant (missense variant)	MHC class I deficiency +1 more	GUncertain significance
Select item 466362	NM_001290043.2(TAP2):c.1120G>A (p.Ala374Thr)	TAP2 (A374T)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign/Likely benign
Select item 1503118	NM_001290043.2(TAP2):c.1087C>T (p.Arg363Trp)	TAP2 (R363W)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 566833	NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys)	LOC107648851, TAP2 (R235C)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 788187	NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg)	TAP2 (G47R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 771394	NM_000593.6(TAP1):c.437C>T (p.Ala146Val)	TAP1 (A206V +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GBenign/Likely benign
Select item 656048	NM_003190.5(TAPBP):c.312del (p.Lys104fs)	TAPBP (K104fs)	Deletion (frameshift variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 534730	NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr)	TAPBP (D59Y)	Indel (missense variant)	MHC class I deficiency	GLikely benign