ClinVar for Gene (Select 57169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3259914	NM_021035.3(ZNFX1):c.382C>T (p.Arg128Trp)	ZNFX1 (R128W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259912	NM_021035.3(ZNFX1):c.232C>T (p.His78Tyr)	ZNFX1 (H78Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259911	NM_021035.3(ZNFX1):c.501T>G (p.Ser167Arg)	ZNFX1 (S167R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259910	NM_021035.3(ZNFX1):c.2111G>A (p.Arg704His)	ZNFX1 (R704H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3259908	NM_021035.3(ZNFX1):c.3988G>A (p.Gly1330Arg)	ZNFX1 (G1330R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3259907	NM_021035.3(ZNFX1):c.49A>G (p.Thr17Ala)	ZNFX1 (T17A)	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 3259905	NM_021035.3(ZNFX1):c.680G>C (p.Gly227Ala)	ZNFX1 (G227A)	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 3259903	NM_021035.3(ZNFX1):c.4751G>A (p.Arg1584His)	ZNFX1 (R1584H)	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 3259901	NM_021035.3(ZNFX1):c.575G>A (p.Arg192Gln)	ZNFX1 (R192Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199096	NM_021035.3(ZNFX1):c.935G>T (p.Gly312Val)	ZNFX1 (G312V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199095	NM_021035.3(ZNFX1):c.895C>G (p.Gln299Glu)	ZNFX1 (Q299E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199094	NM_021035.3(ZNFX1):c.895C>A (p.Gln299Lys)	ZNFX1 (Q299K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199093	NM_021035.3(ZNFX1):c.842G>A (p.Arg281Lys)	ZNFX1 (R281K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199092	NM_021035.3(ZNFX1):c.676G>A (p.Val226Ile)	ZNFX1 (V226I)	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 3199088	NM_021035.3(ZNFX1):c.5549G>A (p.Arg1850His)	ZNFX1 (R1850H)	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 3199086	NM_021035.3(ZNFX1):c.4988G>A (p.Arg1663Gln)	ZNFX1 (R1663Q)	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 3199084	NM_021035.3(ZNFX1):c.4829A>T (p.Asp1610Val)	ZNFX1 (D1610V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3199081	NM_021035.3(ZNFX1):c.4699A>G (p.Met1567Val)	ZNFX1 (M1567V)	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 3199079	NM_021035.3(ZNFX1):c.4523G>A (p.Ser1508Asn)	ZNFX1 (S1508N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3199077	NM_021035.3(ZNFX1):c.4006G>C (p.Val1336Leu)	ZNFX1 (V1336L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3199075	NM_021035.3(ZNFX1):c.3877G>A (p.Glu1293Lys)	ZNFX1 (E1293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3199070	NM_021035.3(ZNFX1):c.344G>A (p.Arg115His)	ZNFX1 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3199068	NM_021035.3(ZNFX1):c.3047C>T (p.Thr1016Ile)	ZNFX1 (T1016I)	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 3199065	NM_021035.3(ZNFX1):c.2608G>A (p.Asp870Asn)	ZNFX1 (D870N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199064	NM_021035.3(ZNFX1):c.2566G>A (p.Ala856Thr)	ZNFX1 (A856T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199063	NM_021035.3(ZNFX1):c.2497C>G (p.Gln833Glu)	ZNFX1 (Q833E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199062	NM_021035.3(ZNFX1):c.2441A>G (p.Glu814Gly)	ZNFX1 (E814G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199061	NM_021035.3(ZNFX1):c.229C>A (p.Pro77Thr)	ZNFX1 (P77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199060	NM_021035.3(ZNFX1):c.2284A>C (p.Met762Leu)	ZNFX1 (M762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199059	NM_021035.3(ZNFX1):c.1759C>T (p.Pro587Ser)	ZNFX1 (P587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199058	NM_021035.3(ZNFX1):c.1508T>A (p.Phe503Tyr)	ZNFX1 (F503Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199057	NM_021035.3(ZNFX1):c.1503C>G (p.Asp501Glu)	ZNFX1 (D501E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199056	NM_021035.3(ZNFX1):c.1471C>G (p.Gln491Glu)	ZNFX1 (Q491E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199055	NM_021035.3(ZNFX1):c.1442T>C (p.Ile481Thr)	ZNFX1 (I481T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3199054	NM_021035.3(ZNFX1):c.1427A>G (p.Asp476Gly)	ZNFX1 (D476G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3064944	NM_021035.3(ZNFX1):c.3292_3302del (p.Leu1098fs)	ZNFX1 (L1098fs)	Deletion (frameshift variant)	Immunodeficiency 91 and hyperinflammation	GUncertain significance
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 3047955	NM_021035.3(ZNFX1):c.3498C>T (p.Cys1166=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 3047510	NM_021035.3(ZNFX1):c.3313-2_3313-1del	ZNFX1	Deletion (splice acceptor variant)	ZNFX1-related disorder	GLikely pathogenic
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 3036592	NM_021035.3(ZNFX1):c.4164C>T (p.His1388=)	ZNFX1	Single nucleotide variant (synonymous variant)	ZNFX1-related disorder	GLikely benign
Select item 2688235	NM_021035.3(ZNFX1):c.2613T>C (p.His871=)	ZNFX1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688234	NM_021035.3(ZNFX1):c.2805-11C>G	ZNFX1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688233	NM_021035.3(ZNFX1):c.3777G>A (p.Met1259Ile)	ZNFX1 (M1259I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2688026	NM_021035.3(ZNFX1):c.1871-90A>T	ZNFX1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687973	NM_021035.3(ZNFX1):c.2772G>C (p.Gln924His)	ZNFX1 (Q924H)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2687968	NM_021035.3(ZNFX1):c.61+46A>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 2687966	NM_021035.3(ZNFX1):c.4052C>T (p.Thr1351Ile)	ZNFX1 (T1351I)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2687945	NM_021035.3(ZNFX1):c.1665C>T (p.Tyr555=)	ZNFX1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2687943	NM_021035.3(ZNFX1):c.4189C>T (p.Leu1397=)	ZNFX1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2652389	NM_021035.3(ZNFX1):c.253G>A (p.Glu85Lys)	ZNFX1 (E85K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2652388	NM_021035.3(ZNFX1):c.3537C>A (p.Val1179=)	ZNFX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635542	NM_021035.3(ZNFX1):c.2151+4A>G	ZNFX1	Single nucleotide variant (intron variant)	ZNFX1-related disorder	GUncertain significance
Select item 2634500	NM_021035.3(ZNFX1):c.452G>A (p.Ser151Asn)	ZNFX1 (S151N)	Single nucleotide variant (missense variant)	ZNFX1-related disorder	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 2619794	NM_021035.3(ZNFX1):c.5137G>A (p.Ala1713Thr)	ZNFX1 (A1713T)	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 2613355	NM_021035.3(ZNFX1):c.5479A>G (p.Ile1827Val)	ZNFX1 (I1827V)	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 2600955	NM_021035.3(ZNFX1):c.3110G>A (p.Arg1037His)	ZNFX1 (R1037H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2593061	NM_021035.3(ZNFX1):c.1078G>C (p.Gly360Arg)	ZNFX1 (G360R)	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 2579720	NM_021035.3(ZNFX1):c.872C>T (p.Thr291Met)	ZNFX1 (T291M)	Single nucleotide variant (missense variant)	Immunodeficiency 91 and hyperinflammation	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 2575951	NM_021035.3(ZNFX1):c.5345_5348del (p.Asp1782fs)	ZNFX1 (D1782fs)	Deletion (frameshift variant)	not provided	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 2550655	NM_021035.3(ZNFX1):c.5705C>T (p.Ser1902Phe)	ZNFX1 (S1902F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550464	NM_021035.3(ZNFX1):c.1567C>G (p.Gln523Glu)	ZNFX1 (Q523E)	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 2542398	NM_021035.3(ZNFX1):c.4370T>G (p.Phe1457Cys)	ZNFX1 (F1457C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2538944	NM_021035.3(ZNFX1):c.710G>A (p.Arg237Gln)	ZNFX1 (R237Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538667	NM_021035.3(ZNFX1):c.2543G>A (p.Arg848Gln)	ZNFX1 (R848Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527435	NM_021035.3(ZNFX1):c.1516G>A (p.Val506Ile)	ZNFX1 (V506I)	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 2509304	NM_021035.3(ZNFX1):c.3535G>A (p.Val1179Ile)	ZNFX1 (V1179I)	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 2491263	NM_021035.3(ZNFX1):c.1067A>G (p.Asn356Ser)	ZNFX1 (N356S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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