LOC126862897[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 2606559	NM_001145344.1(ZNF566):c.1021T>G (p.Cys341Gly)	LOC126862897, ZNF566 (C237G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281581	NM_001145344.1(ZNF566):c.583A>T (p.Ile195Phe)	LOC126862897, ZNF566 (I195F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233456	NM_001145344.1(ZNF566):c.521A>G (p.Lys174Arg)	LOC126862897, ZNF566 (K175R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460429	NM_001145344.1(ZNF566):c.419A>G (p.Asn140Ser)	LOC126862897, ZNF566 (N140S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2226490	NM_001145344.1(ZNF566):c.410G>C (p.Gly137Ala)	LOC126862897, ZNF566 (G137A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510828	NM_001145344.1(ZNF566):c.371G>A (p.Cys124Tyr)	LOC126862897, ZNF566 (C125Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323961	NM_001145344.1(ZNF566):c.367G>A (p.Glu123Lys)	ZNF566, LOC126862897 (E19K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349197	NM_001145344.1(ZNF566):c.331C>T (p.Arg111Cys)	LOC126862897, ZNF566 (R111C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance