CNFN[gene] - ClinVar - NCBI

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Items: 14

	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 60102	GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1	ATP1A3, CEACAM1 +95 more	Copy number loss	See cases	GPathogenic
Select item 3268095	NM_032488.4(CNFN):c.239A>G (p.Tyr80Cys)	CNFN, LOC130064580 (Y80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146429	NM_032488.4(CNFN):c.181T>A (p.Cys61Ser)	CNFN, LOC130064581 (C61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328756	NM_032488.4(CNFN):c.145G>T (p.Ala49Ser)	CNFN, LOC130064581 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146428	NM_032488.4(CNFN):c.137T>C (p.Leu46Pro)	CNFN, LOC130064581 (L46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507750	NM_032488.4(CNFN):c.80G>C (p.Gly27Ala)	CNFN (G27A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	CEACAM21, CEACAM3 +84 more	Duplication	Maple syrup urine disease +3 more	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 394142	GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3	CD177, CEACAM1 +16 more	Copy number gain	See cases	GUncertain significance