C3554499[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 437354	NM_022095.4(ZNF335):c.3820-7_3820-6del	ZNF335	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 130806	NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 130805	NM_022095.4(ZNF335):c.3507C>T (p.His1169=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 130803	NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 130802	NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 130801	NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 130799	NM_022095.4(ZNF335):c.2703C>T (p.Ser901=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 130798	NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu)	ZNF335 (D865E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 212646	NM_022095.4(ZNF335):c.2515_2518dup (p.Thr840fs)	ZNF335 (T840fs)	Duplication (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GLikely pathogenic
Select item 130797	NM_022095.4(ZNF335):c.2253+10G>T	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related disorder +2 more	GBenign
Select item 212644	NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)	ZNF335 (F724del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 130796	NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)	ZNF335 (F723V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 437353	NM_022095.4(ZNF335):c.1830C>G (p.Leu610=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130794	NM_022095.4(ZNF335):c.1623C>T (p.His541=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 130791	NM_022095.4(ZNF335):c.1103-7G>A	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130810	NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr)	ZNF335 (S294T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 130809	NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr)	ZNF335 (A276T)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +2 more	GBenign/Likely benign
Select item 130808	NM_022095.4(ZNF335):c.815-3del	ZNF335	Deletion (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +2 more	GBenign
Select item 377237	NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)	ZNF335 (R270C)	Single nucleotide variant (missense variant)	ZNF335-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 130807	NM_022095.4(ZNF335):c.642C>T (p.Ser214=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 130795	NM_022095.4(ZNF335):c.201+10C>G	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 21