PSMD8[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2492861	NM_002812.5(PSMD8):c.56C>T (p.Thr19Ile)	PSMD8 (T19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314747	NM_002812.5(PSMD8):c.172C>T (p.Leu58Phe)	PSMD8 (L58F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 777471	NM_002812.5(PSMD8):c.178G>A (p.Ala60Thr)	PSMD8 (A60T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3311014	NM_002812.5(PSMD8):c.181T>G (p.Ser61Ala)	PSMD8 (S61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220464	NM_002812.5(PSMD8):c.185G>C (p.Arg62Pro)	PSMD8 (R62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311013	NM_002812.5(PSMD8):c.238C>G (p.Pro80Ala)	PSMD8 (P80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551236	NM_002812.5(PSMD8):c.259G>C (p.Val87Leu)	PSMD8 (V87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220465	NM_002812.5(PSMD8):c.344A>C (p.Glu115Ala)	PSMD8 (E115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773901	NM_002812.5(PSMD8):c.345G>A (p.Glu115=)	PSMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2349119	NM_002812.5(PSMD8):c.473G>A (p.Arg158His)	PSMD8 (R158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311015	NM_002812.5(PSMD8):c.533A>G (p.Tyr178Cys)	PSMD8 (Y178C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723606	NM_002812.5(PSMD8):c.729A>G (p.Lys243=)	PSMD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2339278	NM_002812.5(PSMD8):c.949A>G (p.Ser317Gly)	PSMD8 (S317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401622	NM_002812.5(PSMD8):c.1030C>T (p.Arg344Trp)	PSMD8 (R344W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	DPF1, ECH1 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 24