POP4[gene] - ClinVar

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Items: 29

	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 3216783	NM_006627.3(POP4):c.8G>A (p.Ser3Asn)	POP4 (S3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308918	NM_006627.3(POP4):c.80C>A (p.Ala27Asp)	POP4 (A27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216781	NM_006627.3(POP4):c.116C>G (p.Thr39Arg)	POP4 (T39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512991	NM_006627.3(POP4):c.116C>T (p.Thr39Met)	POP4 (T39M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457484	NM_006627.3(POP4):c.122G>A (p.Arg41His)	POP4 (R41H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315667	NM_006627.3(POP4):c.158G>T (p.Arg53Leu)	POP4 (R53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305645	NM_006627.3(POP4):c.207G>T (p.Lys69Asn)	POP4 (K69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308919	NM_006627.3(POP4):c.238C>G (p.Gln80Glu)	POP4 (Q80E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216782	NM_006627.3(POP4):c.239A>C (p.Gln80Pro)	POP4 (Q80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308917	NM_006627.3(POP4):c.254G>A (p.Arg85Gln)	POP4 (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460836	NM_006627.3(POP4):c.328A>C (p.Ile110Leu)	POP4 (I110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491691	NM_006627.3(POP4):c.409G>A (p.Gly137Arg)	POP4 (G137R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360486	NM_006627.3(POP4):c.529A>T (p.Ile177Phe)	POP4 (I177F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2324065	NM_006627.3(POP4):c.619C>T (p.Arg207Trp)	POP4 (R207W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493028	NM_006627.3(POP4):c.620G>A (p.Arg207Gln)	POP4 (R207Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589277	NM_006627.3(POP4):c.646G>A (p.Gly216Arg)	POP4 (G216R)	Single nucleotide variant (missense variant +1 more)	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 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980759	GRCh37/hg19 19q12(chr19:29739728-31053524)x3	C19orf12, CCNE1 +5 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 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
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 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	C19orf12, CCNE1 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 395158	GRCh37/hg19 19q12(chr19:30091373-30106600)x3	POP4	Copy number gain	See cases	GLikely benign

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Items: 29