C0268344[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2428259	NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)	ZNF469 (A104T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 372949	NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)	ZNF469 (V537M)	Single nucleotide variant (missense variant)	ZNF469-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320883	NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)	ZNF469 (P711R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320894	NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)	ZNF469	Microsatellite (inframe_deletion)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1797609	NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)	ZNF469 (G972S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 2438688	NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)	ZNF469 (G1479R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 452969	NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)	ZNF469 (A1591S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 320939	NM_001367624.2(ZNF469):c.5162G>T (p.Cys1721Phe)	ZNF469 (C1721F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1675640	NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)	ZNF469 (R2532M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 419986	NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr)	ZNF469 (D2930Y)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1388989	NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)	ZNF469 (D3007N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1432811	NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)	ZNF469 (T3308N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1480439	NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)	ZNF469 (D3314G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 2438689	NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)	LOC130059719, ZNF469 (R3369P)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1421761	NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)	ZNF469 (A3458G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1524095	NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)	ZNF469 (S3680T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 426561	NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)	ZNF469 (P3905R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance