ClinVar for Gene (Select 100507463) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358715	NM_004159.5(PSMB8):c.96C>T (p.Thr32=)	PSMB8, PSMB8-AS1	Single nucleotide variant (synonymous variant)	PSMB8-related disorder	GLikely benign
Select item 3355624	NM_004159.5(PSMB8):c.135+10A>G	PSMB8, PSMB8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PSMB8-related disorder	GLikely benign
Select item 3236654	NM_000593.6(TAP1):c.2104dup (p.His702fs)	PSMB8-AS1, TAP1 (H501fs +1 more)	Duplication (non-coding transcript variant +1 more)	MHC class I deficiency	GPathogenic
Select item 3064774	NM_004159.5(PSMB8):c.107_108del (p.Pro36fs)	PSMB8, PSMB8-AS1 (P36fs)	Deletion (frameshift variant)	Proteasome-associated autoinflammatory syndrome 1	GLikely pathogenic
Select item 3024794	NM_000593.6(TAP1):c.*76A>C	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2573443	NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)	PSMB8-AS1, TAP1 (P546S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2436953	NM_000593.6(TAP1):c.2149G>T (p.Gly717Ter)	PSMB8-AS1, TAP1 (G516* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 2289363	NM_000593.6(TAP1):c.2215A>G (p.Met739Val)	PSMB8-AS1, TAP1 (M739V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 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 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 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 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 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 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
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 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 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 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 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 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 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 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 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 1275279	NC_000006.12:g.32844751C>T	PSMB8, PSMB8-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1271041	NC_000006.12:g.32845139T>C	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign
Select item 1253267	NC_000006.12:g.32845081A>G	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign
Select item 1251687	NC_000006.12:g.32845024G>A	PSMB8, PSMB8-AS1	Single nucleotide variant	not provided	GBenign
Select item 1248040	NC_000006.12:g.32844877TG[1]	PSMB8, PSMB8-AS1	Microsatellite	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 534729	NM_000593.6(TAP1):c.2076C>T (p.Tyr692=)	PSMB8-AS1, TAP1	Single nucleotide variant (non-coding transcript variant +1 more)	MHC class I deficiency +1 more	GLikely benign
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 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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 49