"Revvity Omics, Revvity"[submitter] AND "ZNF423"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1409754	NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg)	ZNF423 (Q1203R +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1356548	NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr)	ZNF423 (A1100T +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 836139	NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met)	ZNF423 (T891M +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 1045682	NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln)	ZNF423 (R788Q +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2438685	NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)	ZNF423	Single nucleotide variant (synonymous variant)	Nephronophthisis 14	GConflicting classifications of pathogenicity
Select item 2438684	NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)	ZNF423 (P438L +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 861021	NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val)	ZNF423 (A434V +3 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 970043	NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu)	ZNF423 (P273L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 838330	NM_001379286.1(ZNF423):c.376A>G (p.Met126Val)	ZNF423 (M58V +3 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 14 +1 more	GUncertain significance