PCBP1-AS1[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 2276941	NM_006196.4(PCBP1):c.34G>A (p.Val12Met)	PCBP1, PCBP1-AS1 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321982	NM_006196.4(PCBP1):c.137G>A (p.Arg46Gln)	PCBP1, PCBP1-AS1 (R46Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance

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