5698[geneid] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3220393	NM_002800.5(PSMB9):c.11C>T (p.Ala4Val)	PSMB9 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313341	NM_002800.5(PSMB9):c.14G>C (p.Gly5Ala)	PSMB9 (G5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044101	NM_002800.5(PSMB9):c.26G>A (p.Gly9Glu)	PSMB9 (G9E)	Single nucleotide variant (missense variant)	PSMB9-related disorder	GBenign
Select item 2390920	NM_002800.5(PSMB9):c.88G>A (p.Gly30Arg)	PSMB9 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756788	NM_002800.5(PSMB9):c.93C>T (p.Gly31=)	PSMB9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056957	NM_002800.5(PSMB9):c.94G>A (p.Val32Ile)	PSMB9 (V32I)	Single nucleotide variant (missense variant)	PSMB9-related disorder	GBenign
Select item 1678209	NM_002800.5(PSMB9):c.131dup (p.Ala45fs)	PSMB9 (A45fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3358477	NM_002800.5(PSMB9):c.170T>C (p.Leu57Pro)	PSMB9 (L57P)	Single nucleotide variant (missense variant)	PSMB9-related disorder	GUncertain significance
Select item 1327454	NM_002800.5(PSMB9):c.179G>A (p.Arg60His)	PSMB9 (R60H)	Single nucleotide variant (missense variant)	Proteasome-associated autoinflammatory syndrome 3 +1 more	GBenign
Select item 3037411	NM_002800.5(PSMB9):c.198T>C (p.Ser66=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related disorder	GLikely benign
Select item 3220394	NM_002800.5(PSMB9):c.215C>G (p.Ala72Gly)	PSMB9 (A72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220395	NM_002800.5(PSMB9):c.238G>T (p.Ala80Ser)	PSMB9 (A80S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355400	NM_002800.5(PSMB9):c.252G>A (p.Glu84=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related disorder	GLikely benign
Select item 3220396	NM_002800.5(PSMB9):c.263T>C (p.Ile88Thr)	PSMB9 (I88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575959	NM_002800.5(PSMB9):c.323A>C (p.Tyr108Ser)	PSMB9 (Y108S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624240	NM_002800.5(PSMB9):c.331C>A (p.Arg111=)	PSMB9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2454912	NM_002800.5(PSMB9):c.332G>A (p.Arg111Gln)	PSMB9 (R111Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499007	NM_002800.5(PSMB9):c.350A>G (p.His117Arg)	PSMB9 (H117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285061	NM_002800.5(PSMB9):c.377G>A (p.Arg126His)	PSMB9 (R126H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528126	NM_002800.5(PSMB9):c.386G>A (p.Gly129Asp)	PSMB9 (G129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299361	NM_002800.5(PSMB9):c.467G>A (p.Gly156Asp)	PSMB9 (G156D)	Single nucleotide variant (missense variant)	proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) +1 more	GPathogenic
Select item 3220397	NM_002800.5(PSMB9):c.469T>C (p.Tyr157His)	PSMB9 (Y157H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637885	NM_002800.5(PSMB9):c.483A>G (p.Ala161=)	PSMB9	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 3043979	NM_002800.5(PSMB9):c.486T>C (p.Tyr162=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related disorder	GBenign
Select item 548995	NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)	PSMB9 (G165D)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1711625	NM_002800.5(PSMB9):c.517C>T (p.Arg173Cys)	PSMB9 (R173C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3046623	NM_002800.5(PSMB9):c.567C>T (p.Ser189=)	PSMB9	Single nucleotide variant (synonymous variant)	PSMB9-related disorder	GLikely benign
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 2637886	NC_000006.12:g.32859588_32859589insAT	PSMB9	Insertion	not specified	GBenign
Select item 2637877	NC_000006.12:g.32857571T>C	PSMB9	Single nucleotide variant	not specified	GBenign
Select item 2637873	NC_000006.12:g.32858673T>C	PSMB9	Single nucleotide variant	not specified	GBenign

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Items: 37