Related gene-specific medical variations for Gene (Select 63925) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065500	NM_022095.4(ZNF335):c.1897A>G (p.Lys633Glu)	ZNF335 (K633E)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 2580924	NM_022095.4(ZNF335):c.1471G>C (p.Asp491His)	ZNF335 (D491H)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 2580923	NM_022095.4(ZNF335):c.1748C>T (p.Thr583Met)	ZNF335 (T583M)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 2438682	NM_022095.4(ZNF335):c.3887_3888del (p.His1296fs)	ZNF335 (H1296fs)	Microsatellite (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 2438681	NM_022095.4(ZNF335):c.3274C>T (p.Arg1092Trp)	ZNF335 (R1092W)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1342535	NM_022095.4(ZNF335):c.1665G>C (p.Pro555=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1212472	NM_022095.4(ZNF335):c.-50-317G>A	LOC130065976, ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445926	NM_022095.4(ZNF335):c.1356-1G>A	ZNF335	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 377075	NM_022095.4(ZNF335):c.3677A>G (p.Tyr1226Cys)	ZNF335 (Y1226C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance