"Ambry Genetics"[submitter] AND "ZNF335"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2369253	NM_022095.4(ZNF335):c.3973C>G (p.Gln1325Glu)	ZNF335 (Q1325E)	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 785918	NM_022095.4(ZNF335):c.3842C>T (p.Pro1281Leu)	ZNF335 (P1281L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3335508	NM_022095.4(ZNF335):c.3811G>A (p.Glu1271Lys)	ZNF335 (E1271K)	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 2312668	NM_022095.4(ZNF335):c.3527G>A (p.Arg1176Gln)	ZNF335 (R1176Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347226	NM_022095.4(ZNF335):c.3508G>A (p.Gly1170Arg)	ZNF335 (G1170R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3335505	NM_022095.4(ZNF335):c.3428A>G (p.Gln1143Arg)	ZNF335 (Q1143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 437355	NM_022095.4(ZNF335):c.3415C>T (p.Arg1139Trp)	ZNF335 (R1139W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2404509	NM_022095.4(ZNF335):c.3389G>C (p.Gly1130Ala)	ZNF335 (G1130A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337178	NM_022095.4(ZNF335):c.3366C>G (p.Ile1122Met)	ZNF335 (I1122M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225017	NM_022095.4(ZNF335):c.3332G>T (p.Arg1111Leu)	ZNF335 (R1111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
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 2531799	NM_022095.4(ZNF335):c.3191C>T (p.Ala1064Val)	ZNF335 (A1064V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520770	NM_022095.4(ZNF335):c.3092G>A (p.Arg1031Gln)	ZNF335 (R1031Q)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +1 more	GConflicting classifications of pathogenicity
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 2050418	NM_022095.4(ZNF335):c.2953G>T (p.Asp985Tyr)	ZNF335 (D985Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2251610	NM_022095.4(ZNF335):c.2947G>A (p.Val983Ile)	ZNF335 (V983I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3335515	NM_022095.4(ZNF335):c.2944T>C (p.Cys982Arg)	ZNF335 (C982R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2150344	NM_022095.4(ZNF335):c.2911G>A (p.Gly971Ser)	ZNF335 (G971S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2378167	NM_022095.4(ZNF335):c.2906G>C (p.Arg969Thr)	ZNF335 (R969T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029842	NM_022095.4(ZNF335):c.2891G>A (p.Cys964Tyr)	ZNF335 (C964Y)	Single nucleotide variant (missense variant)	not provided +2 more	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 3195220	NM_022095.4(ZNF335):c.2713G>A (p.Ala905Thr)	ZNF335 (A905T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057778	NM_022095.4(ZNF335):c.2704G>A (p.Glu902Lys)	ZNF335 (E902K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 437357	NM_022095.4(ZNF335):c.2653A>G (p.Thr885Ala)	ZNF335 (T885A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2346789	NM_022095.4(ZNF335):c.2560G>A (p.Gly854Ser)	ZNF335 (G854S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2158160	NM_022095.4(ZNF335):c.2360C>T (p.Ser787Leu)	ZNF335 (S787L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1446985	NM_022095.4(ZNF335):c.2289G>T (p.Glu763Asp)	ZNF335 (E763D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2253827	NM_022095.4(ZNF335):c.2266G>A (p.Ala756Thr)	ZNF335 (A756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3335516	NM_022095.4(ZNF335):c.2254A>G (p.Ile752Val)	ZNF335 (I752V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 376908	NM_022095.4(ZNF335):c.2158C>T (p.Arg720Cys)	ZNF335 (R720C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2560787	NM_022095.4(ZNF335):c.2149C>T (p.Pro717Ser)	ZNF335 (P717S)	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 3335510	NM_022095.4(ZNF335):c.2137C>T (p.Pro713Ser)	ZNF335 (P713S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342917	NM_022095.4(ZNF335):c.2131C>T (p.Arg711Cys)	ZNF335 (R711C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2496204	NM_022095.4(ZNF335):c.2116G>A (p.Glu706Lys)	ZNF335 (E706K)	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 2589045	NM_022095.4(ZNF335):c.2093G>A (p.Arg698Gln)	ZNF335 (R698Q)	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 2236770	NM_022095.4(ZNF335):c.1988T>C (p.Phe663Ser)	ZNF335 (F663S)	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 2187761	NM_022095.4(ZNF335):c.1927C>T (p.His643Tyr)	ZNF335 (H643Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3335509	NM_022095.4(ZNF335):c.1877G>A (p.Cys626Tyr)	ZNF335 (C626Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2492009	NM_022095.4(ZNF335):c.1849G>A (p.Ala617Thr)	ZNF335 (A617T)	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 2517961	NM_022095.4(ZNF335):c.1805G>A (p.Arg602His)	ZNF335 (R602H)	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 3335513	NM_022095.4(ZNF335):c.1706G>A (p.Arg569His)	ZNF335 (R569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167571	NM_022095.4(ZNF335):c.1696G>A (p.Val566Met)	ZNF335 (V566M)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism due to ZNF335 deficiency +2 more	GConflicting classifications of pathogenicity
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 1427838	NM_022095.4(ZNF335):c.1627G>A (p.Ala543Thr)	ZNF335 (A543T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2338809	NM_022095.4(ZNF335):c.1612G>A (p.Val538Ile)	ZNF335 (V538I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1430790	NM_022095.4(ZNF335):c.1604G>A (p.Arg535Gln)	ZNF335 (R535Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082871	NM_022095.4(ZNF335):c.1514G>A (p.Arg505His)	ZNF335 (R505H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 624196	NM_022095.4(ZNF335):c.1441C>G (p.Arg481Gly)	ZNF335 (R481G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2069786	NM_022095.4(ZNF335):c.1417C>T (p.Arg473Cys)	ZNF335 (R473C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397881	NM_022095.4(ZNF335):c.1402C>T (p.Arg468Cys)	ZNF335 (R468C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3335514	NM_022095.4(ZNF335):c.1356G>A (p.Lys452=)	ZNF335	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2319333	NM_022095.4(ZNF335):c.1319G>A (p.Arg440Gln)	ZNF335 (R440Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 130792	NM_022095.4(ZNF335):c.1319G>T (p.Arg440Leu)	ZNF335 (R440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2360749	NM_022095.4(ZNF335):c.1283C>T (p.Pro428Leu)	ZNF335 (P428L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3335506	NM_022095.4(ZNF335):c.1270G>C (p.Ala424Pro)	ZNF335 (A424P)	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 2624151	NM_022095.4(ZNF335):c.1250A>C (p.Gln417Pro)	ZNF335 (Q417P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3335507	NM_022095.4(ZNF335):c.1225A>G (p.Thr409Ala)	ZNF335 (T409A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 521496	NM_022095.4(ZNF335):c.1214A>C (p.Lys405Thr)	ZNF335 (K405T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224967	NM_022095.4(ZNF335):c.1175C>G (p.Pro392Arg)	ZNF335 (P392R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2175916	NM_022095.4(ZNF335):c.1015C>T (p.Arg339Cys)	ZNF335 (R339C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2221364	NM_022095.4(ZNF335):c.983A>G (p.Asp328Gly)	ZNF335 (D328G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 437351	NM_022095.4(ZNF335):c.871T>G (p.Ser291Ala)	ZNF335 (S291A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3335512	NM_022095.4(ZNF335):c.815T>C (p.Val272Ala)	ZNF335 (V272A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521497	NM_022095.4(ZNF335):c.757dup (p.Arg253fs)	ZNF335 (R253fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 2364825	NM_022095.4(ZNF335):c.670G>A (p.Gly224Ser)	ZNF335 (G224S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1370985	NM_022095.4(ZNF335):c.662C>T (p.Pro221Leu)	ZNF335 (P221L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2296622	NM_022095.4(ZNF335):c.649G>A (p.Val217Met)	ZNF335 (V217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271170	NM_022095.4(ZNF335):c.641G>C (p.Ser214Thr)	ZNF335 (S214T)	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 2496066	NM_022095.4(ZNF335):c.565A>T (p.Ser189Cys)	ZNF335 (S189C)	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 2398142	NM_022095.4(ZNF335):c.529A>G (p.Met177Val)	ZNF335 (M177V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 374468	NM_022095.4(ZNF335):c.502C>A (p.Leu168Ile)	ZNF335 (L168I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2215474	NM_022095.4(ZNF335):c.475G>A (p.Gly159Arg)	ZNF335 (G159R)	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 1460561	NM_022095.4(ZNF335):c.368C>T (p.Thr123Ile)	ZNF335 (T123I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1327335	NM_022095.4(ZNF335):c.304G>A (p.Gly102Ser)	ZNF335 (G102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212648	NM_022095.4(ZNF335):c.293G>A (p.Gly98Glu)	ZNF335 (G98E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 2054190	NM_022095.4(ZNF335):c.229G>A (p.Ala77Thr)	ZNF335 (A77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2288611	NM_022095.4(ZNF335):c.152C>A (p.Ala51Asp)	ZNF335 (A51D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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