"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PSMB8-A - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1512962	NM_000593.6(TAP1):c.2224G>C (p.Ala742Pro)	PSMB8-AS1, TAP1 (A541P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 466387	NM_000593.6(TAP1):c.2219T>C (p.Val740Ala)	PSMB8-AS1, TAP1 (V800A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2068034	NM_000593.6(TAP1):c.2213C>T (p.Ala738Val)	PSMB8-AS1, TAP1 (A738V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 1133946	NM_000593.6(TAP1):c.2187C>T (p.Leu729=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 466386	NM_000593.6(TAP1):c.2182C>A (p.Gln728Lys)	PSMB8-AS1, TAP1 (Q788K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 1355919	NM_000593.6(TAP1):c.2167G>C (p.Gly723Arg)	PSMB8-AS1, TAP1 (G723R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 953961	NM_000593.6(TAP1):c.2167G>T (p.Gly723Trp)	PSMB8-AS1, TAP1 (G522W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GUncertain significance
Select item 936651	NM_000593.6(TAP1):c.2155G>A (p.Ala719Thr)	PSMB8-AS1, TAP1 (A719T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 773326	NM_000593.6(TAP1):c.2154C>T (p.Gly718=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 2006276	NM_000593.6(TAP1):c.2145G>T (p.Leu715=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 938034	NM_000593.6(TAP1):c.2144T>G (p.Leu715Arg)	PSMB8-AS1, TAP1 (L514R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 970299	NM_000593.6(TAP1):c.2140T>C (p.Phe714Leu)	PSMB8-AS1, TAP1 (F513L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1141797	NM_000593.6(TAP1):c.2139C>A (p.Leu713=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 569257	NM_000593.6(TAP1):c.2131C>G (p.His711Asp)	PSMB8-AS1, TAP1 (H771D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1571268	NM_000593.6(TAP1):c.2121G>A (p.Glu707=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1962218	NM_000593.6(TAP1):c.2095A>G (p.Ile699Val)	PSMB8-AS1, TAP1 (I699V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1605172	NM_000593.6(TAP1):c.2094C>T (p.Leu698=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1384330	NM_000593.6(TAP1):c.2081G>A (p.Arg694His)	PSMB8-AS1, TAP1 (R493H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1516556	NM_000593.6(TAP1):c.2080C>T (p.Arg694Cys)	PSMB8-AS1, TAP1 (R493C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1367179	NM_000593.6(TAP1):c.2077T>A (p.Ser693Thr)	PSMB8-AS1, TAP1 (S492T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 534729	NM_000593.6(TAP1):c.2076C>T (p.Tyr692=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 972503	NM_000593.6(TAP1):c.2072G>C (p.Arg691Pro)	PSMB8-AS1, TAP1 (R490P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 738461	NM_000593.6(TAP1):c.2072G>A (p.Arg691Gln)	PSMB8-AS1, TAP1 (R490Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1449798	NM_000593.6(TAP1):c.2071C>T (p.Arg691Trp)	PSMB8-AS1, TAP1 (R691W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2145190	NM_000593.6(TAP1):c.2066C>T (p.Pro689Leu)	PSMB8-AS1, TAP1 (P488L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1056023	NM_000593.6(TAP1):c.2062A>G (p.Ser688Gly)	PSMB8-AS1, TAP1 (S487G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1346365	NM_000593.6(TAP1):c.2047C>T (p.Gln683Ter)	PSMB8-AS1, TAP1 (Q482* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1025702	NM_000593.6(TAP1):c.2047C>A (p.Gln683Lys)	PSMB8-AS1, TAP1 (Q482K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 1556769	NM_000593.6(TAP1):c.2041-10C>G	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1101299	NM_000593.6(TAP1):c.2041-13T>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1164327	NM_000593.6(TAP1):c.2041-14A>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 2720475	NM_000593.6(TAP1):c.2041-15G>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1600569	NM_000593.6(TAP1):c.2041-15G>A	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GBenign
Select item 1934290	NM_000593.6(TAP1):c.2041-16C>T	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign
Select item 1589798	NM_000593.6(TAP1):c.2041-20G>A	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GLikely benign

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Items: 35