ClinVar for Gene (Select 63925) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235067	NM_022095.4(ZNF335):c.2342del (p.Gln781fs)	ZNF335 (Q781fs)	Deletion (frameshift variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency	GUncertain significance
Select item 3195229	NM_022095.4(ZNF335):c.671G>T (p.Gly224Val)	ZNF335 (G224V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195228	NM_022095.4(ZNF335):c.622G>A (p.Glu208Lys)	ZNF335 (E208K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195227	NM_022095.4(ZNF335):c.543G>T (p.Met181Ile)	ZNF335 (M181I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195225	NM_022095.4(ZNF335):c.416C>G (p.Ser139Cys)	ZNF335 (S139C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195224	NM_022095.4(ZNF335):c.3722A>T (p.Tyr1241Phe)	ZNF335 (Y1241F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195223	NM_022095.4(ZNF335):c.3661G>A (p.Asp1221Asn)	ZNF335 (D1221N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195222	NM_022095.4(ZNF335):c.2963G>A (p.Ser988Asn)	ZNF335 (S988N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195220	NM_022095.4(ZNF335):c.2713G>A (p.Ala905Thr)	ZNF335 (A905T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195219	NM_022095.4(ZNF335):c.2251G>C (p.Glu751Gln)	ZNF335 (E751Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195218	NM_022095.4(ZNF335):c.222C>G (p.Ser74Arg)	ZNF335 (S74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195217	NM_022095.4(ZNF335):c.2150C>T (p.Pro717Leu)	ZNF335 (P717L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195216	NM_022095.4(ZNF335):c.2116G>C (p.Glu706Gln)	ZNF335 (E706Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195215	NM_022095.4(ZNF335):c.2096G>A (p.Cys699Tyr)	ZNF335 (C699Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195214	NM_022095.4(ZNF335):c.1741A>G (p.Met581Val)	ZNF335 (M581V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195213	NM_022095.4(ZNF335):c.1645C>T (p.Arg549Trp)	ZNF335 (R549W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3055948	NM_022095.4(ZNF335):c.3670-7_3670-5del	ZNF335	Microsatellite (intron variant)	ZNF335-related condition	GLikely benign
Select item 3048006	NM_022095.4(ZNF335):c.3754-8C>T	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related condition	GLikely benign
Select item 3046605	NM_022095.4(ZNF335):c.3840C>T (p.Ser1280=)	ZNF335	Single nucleotide variant (synonymous variant)	ZNF335-related condition	GLikely benign
Select item 3046463	NM_022095.4(ZNF335):c.1783-9C>T	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related condition	GLikely benign
Select item 3044910	NM_022095.4(ZNF335):c.3754-4G>A	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related condition	GLikely benign
Select item 3041723	NM_022095.4(ZNF335):c.2442+9C>G	ZNF335	Single nucleotide variant (intron variant)	ZNF335-related condition	GLikely benign
Select item 3034685	NM_022095.4(ZNF335):c.1611C>T (p.Asp537=)	ZNF335	Single nucleotide variant (synonymous variant)	ZNF335-related condition	GLikely benign
Select item 3031971	NM_022095.4(ZNF335):c.1042C>A (p.Arg348=)	ZNF335	Single nucleotide variant (synonymous variant)	ZNF335-related condition	GLikely benign
Select item 3027241	NM_022095.4(ZNF335):c.3763G>A (p.Gly1255Ser)	ZNF335 (G1255S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020105	NM_022095.4(ZNF335):c.3820-17C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018924	NM_022095.4(ZNF335):c.3885A>G (p.Ala1295=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008956	NM_022095.4(ZNF335):c.3525G>A (p.Glu1175=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001491	NM_022095.4(ZNF335):c.2815-10C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998079	NM_022095.4(ZNF335):c.2996C>T (p.Ala999Val)	ZNF335 (A999V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977763	NM_022095.4(ZNF335):c.3023C>T (p.Pro1008Leu)	ZNF335 (P1008L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975530	NM_022095.4(ZNF335):c.912C>T (p.Asp304=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968194	NM_022095.4(ZNF335):c.3332+19G>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964823	NM_022095.4(ZNF335):c.2663del (p.Pro888fs)	ZNF335 (P888fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2962186	NM_022095.4(ZNF335):c.3819+16del	ZNF335	Deletion (intron variant)	not provided	GBenign
Select item 2961532	NM_022095.4(ZNF335):c.1167C>T (p.Pro389=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961531	NM_022095.4(ZNF335):c.2745T>C (p.Ser915=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955407	NM_022095.4(ZNF335):c.1830C>A (p.Leu610=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916173	NM_022095.4(ZNF335):c.2424G>C (p.Leu808=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914364	NM_022095.4(ZNF335):c.1578C>T (p.Asp526=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898441	NM_022095.4(ZNF335):c.2955C>T (p.Asp985=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897920	NM_022095.4(ZNF335):c.1441C>T (p.Arg481Cys)	ZNF335 (R481C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2893133	NM_022095.4(ZNF335):c.1860-6C>T	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885939	NM_022095.4(ZNF335):c.1284G>A (p.Pro428=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880892	NM_022095.4(ZNF335):c.644C>G (p.Ser215Cys)	ZNF335 (S215C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872715	NM_022095.4(ZNF335):c.192C>T (p.Ser64=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814810	NM_022095.4(ZNF335):c.3738A>C (p.Glu1246Asp)	ZNF335 (E1246D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809448	NM_022095.4(ZNF335):c.1839C>T (p.Ile613=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777340	NM_022095.4(ZNF335):c.399C>T (p.Ile133=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772512	NM_022095.4(ZNF335):c.1072C>T (p.Pro358Ser)	ZNF335 (P358S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763691	NM_022095.4(ZNF335):c.800G>A (p.Arg267His)	ZNF335 (R267H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762849	NM_022095.4(ZNF335):c.949C>G (p.Leu317Val)	ZNF335 (L317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761650	NM_022095.4(ZNF335):c.1797dup (p.Lys600Ter)	ZNF335 (K600*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2732546	NM_022095.4(ZNF335):c.2262A>G (p.Pro754=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722867	NM_022095.4(ZNF335):c.957G>C (p.Glu319Asp)	ZNF335 (E319D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712018	NM_022095.4(ZNF335):c.1587C>T (p.Ser529=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2708051	NM_022095.4(ZNF335):c.114C>T (p.Asp38=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706608	NM_022095.4(ZNF335):c.3711C>T (p.Leu1237=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698993	NM_022095.4(ZNF335):c.1092C>T (p.Asp364=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652355	NM_022095.4(ZNF335):c.189C>T (p.Gly63=)	ZNF335	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652354	NM_022095.4(ZNF335):c.1351C>T (p.Arg451Cys)	ZNF335 (R451C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652353	NM_022095.4(ZNF335):c.3556ATC[1] (p.Ile1187del)	ZNF335 (I1187del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2633722	NM_022095.4(ZNF335):c.2442+1G>A	ZNF335	Single nucleotide variant (splice donor variant)	ZNF335-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2624151	NM_022095.4(ZNF335):c.1250A>C (p.Gln417Pro)	ZNF335 (Q417P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620409	NM_022095.4(ZNF335):c.3913G>A (p.Ala1305Thr)	ZNF335 (A1305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615662	NM_022095.4(ZNF335):c.1844C>T (p.Ala615Val)	ZNF335 (A615V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613056	NM_022095.4(ZNF335):c.2145G>T (p.Glu715Asp)	ZNF335 (E715D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589045	NM_022095.4(ZNF335):c.2093G>A (p.Arg698Gln)	ZNF335 (R698Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2580439	NM_022095.4(ZNF335):c.3984G>C (p.Gln1328His)	ZNF335 (Q1328H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580040	NM_022095.4(ZNF335):c.2359T>A (p.Ser787Thr)	ZNF335 (S787T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578910	NM_022095.4(ZNF335):c.2381C>T (p.Thr794Ile)	ZNF335 (T794I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560787	NM_022095.4(ZNF335):c.2149C>T (p.Pro717Ser)	ZNF335 (P717S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542128	NM_022095.4(ZNF335):c.1956C>G (p.Ser652Arg)	ZNF335 (S652R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538948	NM_022095.4(ZNF335):c.134C>T (p.Ala45Val)	ZNF335 (A45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531799	NM_022095.4(ZNF335):c.3191C>T (p.Ala1064Val)	ZNF335 (A1064V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517961	NM_022095.4(ZNF335):c.1805G>A (p.Arg602His)	ZNF335 (R602H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500967	NM_022095.4(ZNF335):c.201+85G>A	ZNF335	Single nucleotide variant (intron variant)	Autosomal recessive primary microcephaly	GUncertain significance
Select item 2496494	NM_022095.4(ZNF335):c.3242G>C (p.Ser1081Thr)	ZNF335 (S1081T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496204	NM_022095.4(ZNF335):c.2116G>A (p.Glu706Lys)	ZNF335 (E706K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496066	NM_022095.4(ZNF335):c.565A>T (p.Ser189Cys)	ZNF335 (S189C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495926	NM_022095.4(ZNF335):c.2080C>T (p.Arg694Cys)	ZNF335 (R694C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492009	NM_022095.4(ZNF335):c.1849G>A (p.Ala617Thr)	ZNF335 (A617T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490179	NM_022095.4(ZNF335):c.2780T>A (p.Met927Lys)	ZNF335 (M927K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470137	NM_022095.4(ZNF335):c.1267G>A (p.Ala423Thr)	ZNF335 (A423T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2470065	NM_022095.4(ZNF335):c.1016G>A (p.Arg339His)	ZNF335 (R339H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469944	NM_022095.4(ZNF335):c.481G>A (p.Glu161Lys)	ZNF335 (E161K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467015	NM_022095.4(ZNF335):c.4003G>A (p.Asp1335Asn)	ZNF335 (D1335N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459056	NM_022095.4(ZNF335):c.235C>A (p.Pro79Thr)	ZNF335 (P79T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2430843	NM_022095.4(ZNF335):c.185G>A (p.Arg62His)	ZNF335 (R62H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430767	NM_022095.4(ZNF335):c.2429G>A (p.Gly810Asp)	ZNF335 (G810D)	Single nucleotide variant (missense variant)	not provided	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 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 2420889	NM_022095.4(ZNF335):c.3517G>T (p.Gly1173Cys)	ZNF335 (G1173C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419188	NM_022095.4(ZNF335):c.1355+9A>C	ZNF335	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418202	NM_022095.4(ZNF335):c.1075C>T (p.Arg359Cys)	ZNF335 (R359C)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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