ClinVar for MedGen (Select 767413) - ClinVar

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Items: 62

	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 2429737	NM_022095.4(ZNF335):c.3206A>G (p.His1069Arg)	ZNF335 (H1069R)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1806360	NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)	ZNF335 (R688W)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1806088	NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)	ZNF335 (C683R)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 1686312	NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)	ZNF335 (S1007fs)	Insertion (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic
Select item 1678808	NM_022095.4(ZNF335):c.857G>A (p.Arg286Gln)	ZNF335 (R286Q)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1644616	NM_022095.4(ZNF335):c.3868C>T (p.Gln1290Ter)	ZNF335 (Q1290*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely benign
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 1301769	NM_022095.4(ZNF335):c.1508G>A (p.Arg503His)	ZNF335 (R503H)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
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 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 1208693	NM_022095.4(ZNF335):c.3820-11C>T	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1170657	NM_022095.4(ZNF335):c.3487+14G>C	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1170104	NM_022095.4(ZNF335):c.1355+13G>A	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign
Select item 1165196	NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser)	ZNF335 (P834S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1029842	NM_022095.4(ZNF335):c.2891G>A (p.Cys964Tyr)	ZNF335 (C964Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 998091	NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg)	ZNF335 (G1116R)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 983114	NM_022095.4(ZNF335):c.1665+61G>A	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 816879	NM_022095.4(ZNF335):c.3589C>T (p.Gln1197Ter)	ZNF335 (Q1197*)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 816878	NM_022095.4(ZNF335):c.1856G>A (p.Arg619His)	ZNF335 (R619H)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GUncertain significance
Select item 800946	NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu)	ZNF335 (P1053L)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 791209	NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln)	ZNF335 (P1267Q)	Single nucleotide variant (missense variant)	ZNF335-related condition +2 more	GBenign/Likely benign
Select item 787492	NM_022095.4(ZNF335):c.3670-16dup	ZNF335	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
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 716509	NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 709516	NM_022095.4(ZNF335):c.103G>T (p.Val35Leu)	ZNF335 (V35L)	Single nucleotide variant (missense variant)	ZNF335-related condition +2 more	GBenign/Likely benign
Select item 638420	NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser)	ZNF335 (P79S)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 624196	NM_022095.4(ZNF335):c.1441C>G (p.Arg481Gly)	ZNF335 (R481G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 619007	NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys)	ZNF335 (Y502C)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic
Select item 619006	NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg)	ZNF335 (C467R)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic
Select item 561147	NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)	ZNF335 (V242del)	Microsatellite (inframe_deletion)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 498079	NM_022095.4(ZNF335):c.3488-6G>A	ZNF335	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 453188	NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)	ZNF335 (E1333G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 446071	NM_022095.4(ZNF335):c.1102+9T>C	ZNF335	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GBenign/Likely benign
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 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 377237	NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)	ZNF335 (R270C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 375393	NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	ZNF335 (S915fs)	Microsatellite (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic/Likely pathogenic
Select item 375392	NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)	ZNF335 (E1263*)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic
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 212644	NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)	ZNF335 (F724del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
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)	not specified +2 more	GBenign/Likely benign
Select item 130808	NM_022095.4(ZNF335):c.815-3del	ZNF335	Deletion (intron variant)	not specified +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 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 130797	NM_022095.4(ZNF335):c.2253+10G>T	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related condition +2 more	GBenign
Select item 130796	NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val)	ZNF335 (F723V)	Single nucleotide variant (missense variant)	ZNF335-related condition +2 more	GBenign/Likely benign
Select item 130795	NM_022095.4(ZNF335):c.201+10C>G	ZNF335	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 40116	NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His)	ZNF335 (R1111H)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GPathogenic

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Links from MedGen

Items: 62