C3554499[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	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 1208693	NM_022095.4(ZNF335):c.3820-11C>T	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 791209	NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln)	ZNF335 (P1267Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 787492	NM_022095.4(ZNF335):c.3670-16dup	ZNF335	Duplication (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 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 provided +2 more	GBenign/Likely benign
Select item 716509	NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign/Likely benign
Select item 498079	NM_022095.4(ZNF335):c.3488-6G>A	ZNF335	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1170657	NM_022095.4(ZNF335):c.3487+14G>C	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130803	NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 779473	NM_022095.4(ZNF335):c.3354C>T (p.Leu1118=)	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)	Microcephalic primordial dwarfism due to ZNF335 deficiency +2 more	GBenign/Likely benign
Select item 130801	NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +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 1165196	NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser)	ZNF335 (P834S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 130797	NM_022095.4(ZNF335):c.2253+10G>T	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 130796	NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)	ZNF335 (F723V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1287055	NM_022095.4(ZNF335):c.2021-37C>T	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 437353	NM_022095.4(ZNF335):c.1830C>G (p.Leu610=)	ZNF335	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 130794	NM_022095.4(ZNF335):c.1623C>T (p.His541=)	ZNF335	Single nucleotide variant (synonymous variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 1170104	NM_022095.4(ZNF335):c.1355+13G>A	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 130791	NM_022095.4(ZNF335):c.1103-7G>A	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 1224935	NM_022095.4(ZNF335):c.1102+39C>T	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 446071	NM_022095.4(ZNF335):c.1102+9T>C	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 130810	NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr)	ZNF335 (S294T)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +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 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
Select item 709516	NM_022095.4(ZNF335):c.103G>T (p.Val35Leu)	ZNF335 (V35L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31