PSMC4[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151011	GRCh37/hg19 19q13.2(chr19:40403192-40694875)x1	FCGBP, LOC112552149 +14 more	Copy number loss	See cases	GUncertain significance
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 3220410	NM_006503.4(PSMC4):c.61T>G (p.Ser21Ala)	PSMC4 (S21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220411	NM_006503.4(PSMC4):c.72G>T (p.Gln24His)	PSMC4 (Q24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252925	NM_006503.4(PSMC4):c.482A>G (p.Asp161Gly)	PSMC4 (D130G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220409	NM_006503.4(PSMC4):c.514A>G (p.Ile172Val)	PSMC4 (I172V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485792	NM_006503.4(PSMC4):c.557C>T (p.Thr186Met)	PSMC4 (T155M +1 more)	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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 1526665	GRCh37/hg19 19q13.2(chr19:40374795-40699742)	FCGBP, MAP3K10 +4 more	Copy number loss	not specified	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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