ZNFX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 150781	GRCh38/hg38 20q13.13(chr20:48756586-49532355)x3	ARFGEF2, CSE1L +44 more	Copy number gain	See cases	GUncertain significance
Select item 146041	GRCh38/hg38 20q13.13(chr20:49098782-49465707)x3	DDX27, KCNB1 +15 more	Copy number gain	See cases	GUncertain significance
Select item 1184395	NC_000020.11:g.49212886_49410642dup	DDX27, KCNB1 +12 more	Duplication	Developmental and epileptic encephalopathy, 26	GUncertain significance
Select item 2345648	NM_021035.3(ZNFX1):c.5742C>G (p.Ile1914Met)	ZNFX1 (I1914M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550655	NM_021035.3(ZNFX1):c.5705C>T (p.Ser1902Phe)	ZNFX1 (S1902F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199091	NM_021035.3(ZNFX1):c.5692C>T (p.His1898Tyr)	ZNFX1 (H1898Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199090	NM_021035.3(ZNFX1):c.5572G>A (p.Gly1858Ser)	ZNFX1 (G1858S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540774	NM_021035.3(ZNFX1):c.5552A>G (p.Asn1851Ser)	ZNFX1 (N1851S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199088	NM_021035.3(ZNFX1):c.5549G>A (p.Arg1850His)	ZNFX1 (R1850H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613355	NM_021035.3(ZNFX1):c.5479A>G (p.Ile1827Val)	ZNFX1 (I1827V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410818	NM_021035.3(ZNFX1):c.5415T>G (p.Asp1805Glu)	ZNFX1 (D1805E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872729	NM_021035.3(ZNFX1):c.5395del (p.Cys1799fs)	ZNFX1 (C1799fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1333292	NM_021035.3(ZNFX1):c.5362_5369del (p.Val1788fs)	ZNFX1 (V1788fs)	Deletion (frameshift variant)	ZNFX1-related disorder	GUncertain significance
Select item 2214510	NM_021035.3(ZNFX1):c.5350A>T (p.Ile1784Leu)	ZNFX1 (I1784L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575951	NM_021035.3(ZNFX1):c.5345_5348del (p.Asp1782fs)	ZNFX1 (D1782fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2214509	NM_021035.3(ZNFX1):c.5348G>T (p.Ser1783Ile)	ZNFX1 (S1783I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484611	NM_021035.3(ZNFX1):c.5327C>T (p.Ala1776Val)	ZNFX1 (A1776V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518409	NM_021035.3(ZNFX1):c.5315G>A (p.Arg1772His)	ZNFX1 (R1772H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199087	NM_021035.3(ZNFX1):c.5305C>A (p.Leu1769Ile)	ZNFX1 (L1769I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243206	NM_021035.3(ZNFX1):c.5234G>A (p.Arg1745His)	ZNFX1 (R1745H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266775	NM_021035.3(ZNFX1):c.5185A>G (p.Arg1729Gly)	ZNFX1 (R1729G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619794	NM_021035.3(ZNFX1):c.5137G>A (p.Ala1713Thr)	ZNFX1 (A1713T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199086	NM_021035.3(ZNFX1):c.4988G>A (p.Arg1663Gln)	ZNFX1 (R1663Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2345516	NM_021035.3(ZNFX1):c.4916G>A (p.Arg1639Gln)	ZNFX1 (R1639Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3199085	NM_021035.3(ZNFX1):c.4910A>G (p.Lys1637Arg)	ZNFX1 (K1637R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579719	NM_021035.3(ZNFX1):c.4880G>A (p.Arg1627His)	ZNFX1 (R1627H)	Single nucleotide variant (missense variant)	Immunodeficiency 91 and hyperinflammation	GUncertain significance
Select item 3199084	NM_021035.3(ZNFX1):c.4829A>T (p.Asp1610Val)	ZNFX1 (D1610V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327517	NM_021035.3(ZNFX1):c.4815_4818del (p.Glu1606fs)	ZNFX1 (E1606fs)	Microsatellite (frameshift variant)	Immunodeficiency 91 and hyperinflammation	GPathogenic
Select item 3199083	NM_021035.3(ZNFX1):c.4805G>A (p.Arg1602His)	ZNFX1 (R1602H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199082	NM_021035.3(ZNFX1):c.4804C>T (p.Arg1602Cys)	ZNFX1 (R1602C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259903	NM_021035.3(ZNFX1):c.4751G>A (p.Arg1584His)	ZNFX1 (R1584H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358964	NM_021035.3(ZNFX1):c.4750C>T (p.Arg1584Cys)	ZNFX1 (R1584C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199081	NM_021035.3(ZNFX1):c.4699A>G (p.Met1567Val)	ZNFX1 (M1567V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259902	NM_021035.3(ZNFX1):c.4657C>A (p.Leu1553Ile)	ZNFX1 (L1553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199080	NM_021035.3(ZNFX1):c.4610A>G (p.Tyr1537Cys)	ZNFX1 (Y1537C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228514	NM_021035.3(ZNFX1):c.4550G>A (p.Arg1517His)	ZNFX1 (R1517H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255735	NM_021035.3(ZNFX1):c.4531G>T (p.Val1511Leu)	ZNFX1 (V1511L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199079	NM_021035.3(ZNFX1):c.4523G>A (p.Ser1508Asn)	ZNFX1 (S1508N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259904	NM_021035.3(ZNFX1):c.4402C>G (p.Leu1468Val)	ZNFX1 (L1468V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259915	NM_021035.3(ZNFX1):c.4396A>C (p.Lys1466Gln)	ZNFX1 (K1466Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542398	NM_021035.3(ZNFX1):c.4370T>G (p.Phe1457Cys)	ZNFX1 (F1457C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341543	NM_021035.3(ZNFX1):c.4255G>A (p.Val1419Met)	ZNFX1 (V1419M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458475	NM_021035.3(ZNFX1):c.4240G>C (p.Val1414Leu)	ZNFX1 (V1414L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588362	NM_021035.3(ZNFX1):c.4238C>T (p.Pro1413Leu)	ZNFX1 (P1413L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037779	NM_021035.3(ZNFX1):c.4221G>A (p.Lys1407=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 3199078	NM_021035.3(ZNFX1):c.4207A>C (p.Thr1403Pro)	ZNFX1 (T1403P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2687943	NM_021035.3(ZNFX1):c.4189C>T (p.Leu1397=)	ZNFX1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2257038	NM_021035.3(ZNFX1):c.4183G>A (p.Val1395Met)	ZNFX1 (V1395M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036592	NM_021035.3(ZNFX1):c.4164C>T (p.His1388=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 2593911	NM_021035.3(ZNFX1):c.4105G>T (p.Asp1369Tyr)	ZNFX1 (D1369Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2687966	NM_021035.3(ZNFX1):c.4052C>T (p.Thr1351Ile)	ZNFX1 (T1351I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3199077	NM_021035.3(ZNFX1):c.4006G>C (p.Val1336Leu)	ZNFX1 (V1336L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739842	NM_021035.3(ZNFX1):c.4005T>C (p.Leu1335=)	ZNFX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3199076	NM_021035.3(ZNFX1):c.4003C>T (p.Leu1335Phe)	ZNFX1 (L1335F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617585	NM_021035.3(ZNFX1):c.3995G>A (p.Arg1332Gln)	ZNFX1 (R1332Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259908	NM_021035.3(ZNFX1):c.3988G>A (p.Gly1330Arg)	ZNFX1 (G1330R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307835	NM_021035.3(ZNFX1):c.3910C>T (p.Arg1304Cys)	ZNFX1 (R1304C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199075	NM_021035.3(ZNFX1):c.3877G>A (p.Glu1293Lys)	ZNFX1 (E1293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409831	NM_021035.3(ZNFX1):c.3782G>A (p.Arg1261Gln)	ZNFX1 (R1261Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2688233	NM_021035.3(ZNFX1):c.3777G>A (p.Met1259Ile)	ZNFX1 (M1259I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 712140	NM_021035.3(ZNFX1):c.3717G>A (p.Lys1239=)	ZNFX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775651	NM_021035.3(ZNFX1):c.3637A>G (p.Ile1213Val)	ZNFX1 (I1213V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3199074	NM_021035.3(ZNFX1):c.3593C>G (p.Ser1198Trp)	ZNFX1 (S1198W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199073	NM_021035.3(ZNFX1):c.3580A>G (p.Ile1194Val)	ZNFX1 (I1194V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431749	NM_021035.3(ZNFX1):c.3557A>G (p.Lys1186Arg)	ZNFX1 (K1186R)	Single nucleotide variant (missense variant)	Immunodeficiency 91 and hyperinflammation	GUncertain significance
Select item 2652388	NM_021035.3(ZNFX1):c.3537C>A (p.Val1179=)	ZNFX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2509304	NM_021035.3(ZNFX1):c.3535G>A (p.Val1179Ile)	ZNFX1 (V1179I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047955	NM_021035.3(ZNFX1):c.3498C>T (p.Cys1166=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 3068301	NM_021035.3(ZNFX1):c.3469C>G (p.Leu1157Val)	ZNFX1 (L1157V)	Single nucleotide variant (missense variant)	Immunodeficiency 91 and hyperinflammation	GUncertain significance
Select item 2469234	NM_021035.3(ZNFX1):c.3326A>G (p.Asn1109Ser)	ZNFX1 (N1109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047510	NM_021035.3(ZNFX1):c.3313-2_3313-1del	ZNFX1	Deletion (splice acceptor variant)	ZNFX1-related disorder	GLikely pathogenic
Select item 3048146	NM_021035.3(ZNFX1):c.3312G>A (p.Lys1104=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 3064944	NM_021035.3(ZNFX1):c.3292_3302del (p.Leu1098fs)	ZNFX1 (L1098fs)	Deletion (frameshift variant)	Immunodeficiency 91 and hyperinflammation	GUncertain significance
Select item 3199069	NM_021035.3(ZNFX1):c.3292C>A (p.Leu1098Ile)	ZNFX1 (L1098I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620822	NM_021035.3(ZNFX1):c.3256C>A (p.His1086Asn)	ZNFX1 (H1086N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493997	NM_021035.3(ZNFX1):c.3250A>G (p.Thr1084Ala)	ZNFX1 (T1084A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269592	NM_021035.3(ZNFX1):c.3202C>T (p.Arg1068Cys)	ZNFX1 (R1068C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284908	NM_021035.3(ZNFX1):c.3172C>T (p.Arg1058Trp)	ZNFX1 (R1058W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559569	NM_021035.3(ZNFX1):c.3113C>G (p.Pro1038Arg)	ZNFX1 (P1038R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600955	NM_021035.3(ZNFX1):c.3110G>A (p.Arg1037His)	ZNFX1 (R1037H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199068	NM_021035.3(ZNFX1):c.3047C>T (p.Thr1016Ile)	ZNFX1 (T1016I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477622	NM_021035.3(ZNFX1):c.2921T>C (p.Ile974Thr)	ZNFX1 (I974T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223263	NM_021035.3(ZNFX1):c.2920A>G (p.Ile974Val)	ZNFX1 (I974V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1327518	NM_021035.3(ZNFX1):c.2876C>G (p.Ser959Ter)	ZNFX1	Single nucleotide variant (nonsense)	Immunodeficiency 91 and hyperinflammation	GPathogenic
Select item 3259909	NM_021035.3(ZNFX1):c.2870G>A (p.Arg957His)	ZNFX1 (R957H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609790	NM_021035.3(ZNFX1):c.2860C>T (p.Arg954Cys)	ZNFX1 (R954C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199067	NM_021035.3(ZNFX1):c.2855A>G (p.Tyr952Cys)	ZNFX1 (Y952C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199066	NM_021035.3(ZNFX1):c.2840G>A (p.Arg947Gln)	ZNFX1 (R947Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326514	NM_021035.3(ZNFX1):c.2837G>A (p.Arg946His)	ZNFX1 (R946H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2688234	NM_021035.3(ZNFX1):c.2805-11C>G	ZNFX1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687967	NM_021035.3(ZNFX1):c.2804+18T>C	ZNFX1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1701423	NM_021035.3(ZNFX1):c.2793G>A (p.Trp931Ter)	ZNFX1 (W931*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2687973	NM_021035.3(ZNFX1):c.2772G>C (p.Gln924His)	ZNFX1 (Q924H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2331168	NM_021035.3(ZNFX1):c.2731A>G (p.Met911Val)	ZNFX1 (M911V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259906	NM_021035.3(ZNFX1):c.2722C>A (p.Leu908Met)	ZNFX1 (L908M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543487	NM_021035.3(ZNFX1):c.2716C>T (p.Arg906Cys)	ZNFX1 (R906C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373015	NM_021035.3(ZNFX1):c.2708A>T (p.Asp903Val)	ZNFX1 (D903V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1327520	NM_021035.3(ZNFX1):c.2698_2699insT (p.Arg900fs)	ZNFX1 (R900fs)	Insertion (frameshift variant)	Immunodeficiency 91 and hyperinflammation	GPathogenic

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