LYPD4[gene] - ClinVar - NCBI

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Items: 18

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 3121689	NM_173506.7(LYPD4):c.652G>A (p.Glu218Lys)	LYPD4 (E218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317979	NM_173506.7(LYPD4):c.622A>G (p.Ile208Val)	LYPD4 (I208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210227	NM_173506.7(LYPD4):c.578G>A (p.Arg193His)	LYPD4 (R193H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239618	NM_173506.7(LYPD4):c.428C>T (p.Pro143Leu)	LYPD4 (P143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337953	NM_173506.7(LYPD4):c.343T>A (p.Cys115Ser)	LYPD4 (C80S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351685	NM_173506.7(LYPD4):c.325G>C (p.Val109Leu)	LYPD4 (V74L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290569	NM_173506.7(LYPD4):c.281A>G (p.Tyr94Cys)	LYPD4 (Y94C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121688	NM_173506.7(LYPD4):c.100G>A (p.Ala34Thr)	LYPD4 (A34T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204616	NM_173506.7(LYPD4):c.89A>G (p.Tyr30Cys)	LYPD4 (Y30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330843	NM_173506.7(LYPD4):c.29A>G (p.Gln10Arg)	LYPD4 (Q10R)	Single nucleotide variant (missense variant)	not specified	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 980764	GRCh37/hg19 19q13.2(chr19:42259135-42393370)x3	ARHGEF1, CD79A +5 more	Copy number gain	not provided	GUncertain significance
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