ClinVar for Gene (Select 23064) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1783

<< First< Prev

Page of 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242022	NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)	SETX (Y1836*)	Duplication (nonsense)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	GLikely pathogenic
Select item 3239599	NM_015046.7(SETX):c.7736T>C (p.Val2579Ala)	SETX (V2579A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234885	NM_015046.7(SETX):c.3734C>T (p.Thr1245Ile)	SETX (T1245I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4	GUncertain significance
Select item 3234559	NM_015046.7(SETX):c.5025A>T (p.Pro1675=)	SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233642	NM_015046.7(SETX):c.3824G>A (p.Arg1275His)	SETX (R1275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233569	NM_015046.7(SETX):c.6789C>T (p.Asp2263=)	SETX	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3226334	NM_015046.7(SETX):c.992T>C (p.Ile331Thr)	SETX (I331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160723	NM_015046.7(SETX):c.8017A>G (p.Lys2673Glu)	SETX (K2702E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160722	NM_015046.7(SETX):c.7160T>G (p.Val2387Gly)	SETX (V2387G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160721	NM_015046.7(SETX):c.7159G>T (p.Val2387Phe)	SETX (V2387F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160720	NM_015046.7(SETX):c.6517G>A (p.Val2173Ile)	SETX (V2173I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160719	NM_015046.7(SETX):c.5300C>T (p.Pro1767Leu)	SETX (P1767L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160717	NM_015046.7(SETX):c.4403G>T (p.Gly1468Val)	SETX (G1468V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160716	NM_015046.7(SETX):c.4109G>A (p.Ser1370Asn)	SETX (S1370N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160715	NM_015046.7(SETX):c.3376T>C (p.Tyr1126His)	SETX (Y1126H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160714	NM_015046.7(SETX):c.2769A>T (p.Arg923Ser)	SETX (R923S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160713	NM_015046.7(SETX):c.2645A>G (p.Asn882Ser)	SETX (N882S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160712	NM_015046.7(SETX):c.253G>A (p.Asp85Asn)	SETX (D85N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3160710	NM_015046.7(SETX):c.1937C>T (p.Ser646Phe)	SETX (S646F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067535	NM_015046.7(SETX):c.3471A>G (p.Val1157=)	SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063698	NM_015046.7(SETX):c.6691G>T (p.Ala2231Ser)	SETX (A2231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063120	GRCh37/hg19 9q34.13(chr9:135056358-135636431)x1	AK8, BARHL1 +6 more	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061225	NM_015046.7(SETX):c.1762T>A (p.Leu588Ile)	SETX (L588I)	Single nucleotide variant (missense variant)	SETX-related disorder	GUncertain significance
Select item 3060510	NM_015046.7(SETX):c.177+5A>T	SETX	Single nucleotide variant (intron variant)	SETX-related disorder	GLikely benign
Select item 3055087	NM_015046.7(SETX):c.5667G>A (p.Lys1889=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3053803	NM_015046.7(SETX):c.5370T>C (p.Phe1790=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3052909	NM_015046.7(SETX):c.5158G>T (p.Gly1720Trp)	SETX (G1720W)	Single nucleotide variant (missense variant)	SETX-related disorder	GUncertain significance
Select item 3052292	NM_015046.7(SETX):c.6984G>A (p.Lys2328=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3051540	NM_015046.7(SETX):c.4965G>A (p.Ser1655=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3049505	NM_015046.7(SETX):c.6843-6_6843-5del	SETX	Deletion (intron variant)	SETX-related disorder	GLikely benign
Select item 3047126	NM_015046.7(SETX):c.2789G>A (p.Ser930Asn)	SETX (S930N)	Single nucleotide variant (missense variant)	SETX-related disorder	GUncertain significance
Select item 3045139	NM_015046.7(SETX):c.4155C>T (p.Asp1385=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3032996	NM_015046.7(SETX):c.4983T>G (p.Pro1661=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3032206	NM_015046.7(SETX):c.7452C>T (p.Ser2484=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3031075	NM_015046.7(SETX):c.4977T>C (p.Leu1659=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3030804	NM_015046.7(SETX):c.123G>A (p.Leu41=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3029818	NM_015046.7(SETX):c.1875A>G (p.Glu625=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related disorder	GLikely benign
Select item 3027342	NM_015046.7(SETX):c.1776T>C (p.Ile592=)	SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027260	NM_015046.7(SETX):c.5342C>G (p.Pro1781Arg)	SETX (P1781R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027090	NM_015046.7(SETX):c.6842+3G>A	SETX	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026581	NM_015046.7(SETX):c.7448G>A (p.Gly2483Glu)	SETX (G2483E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026331	NM_015046.7(SETX):c.7719C>T (p.Gly2573=)	SETX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954329	NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)	SETX (T1863S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2954272	NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)	SETX (P2600R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2953991	NM_015046.7(SETX):c.718+11T>A	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2953672	NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)	SETX (E2671L +1 more)	Indel (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2953208	NM_015046.7(SETX):c.388+8T>G	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2953130	NM_015046.7(SETX):c.2520T>C (p.Asn840=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2952636	NM_015046.7(SETX):c.3819A>G (p.Lys1273=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2952611	NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)	SETX (Y345F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2952400	NM_015046.7(SETX):c.5950-4G>A	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2951814	NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)	LOC126860782, SETX (V2410A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2951722	NM_015046.7(SETX):c.6300A>G (p.Leu2100=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2951720	NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)	SETX (A943P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2951391	NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)	SETX (S708R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2951269	NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)	SETX (D828A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2950989	NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)	SETX (Y1793F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2950978	NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)	SETX (R1778Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2950315	NM_015046.7(SETX):c.7680C>A (p.Pro2560=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2950005	NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)	SETX (A2285T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2949546	NM_015046.7(SETX):c.197C>T (p.Thr66Ile)	SETX (T66I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2949131	NM_015046.7(SETX):c.5549-6T>C	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2948489	NM_015046.7(SETX):c.6842+11dup	SETX	Duplication (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2948248	NM_015046.7(SETX):c.6547-11A>G	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2947890	NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)	SETX (A1491G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2947360	NM_015046.7(SETX):c.6397-17A>C	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2947330	NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)	SETX (S464L)	Inversion (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2947104	NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)	SETX (R2456G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2946686	NM_015046.7(SETX):c.1880T>A (p.Met627Lys)	SETX (M627K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2946501	NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)	SETX (N762Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2946065	NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)	SETX (L815F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2946033	NM_015046.7(SETX):c.719-18C>T	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2945977	NM_015046.7(SETX):c.2160A>C (p.Ser720=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2945887	NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)	SETX (T1067P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2944975	NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)	SETX (T1700I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2944864	NM_015046.7(SETX):c.7764G>A (p.Gln2588=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2943743	NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)	SETX (E1420G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2943592	NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)	SETX (L2613V +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2943589	NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)	SETX (L2202R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2943539	NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)	SETX (A599T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2943199	NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)	SETX (N860K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2942468	NM_015046.7(SETX):c.2972T>C (p.Val991Ala)	SETX (V991A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2941842	NM_015046.7(SETX):c.839-20A>G	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2941772	NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)	SETX (I595K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2941734	NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)	SETX (A771P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2941416	NM_015046.7(SETX):c.474G>A (p.Leu158=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2940985	NM_015046.7(SETX):c.499-18_499-15del	SETX	Microsatellite (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2940970	NM_015046.7(SETX):c.267A>C (p.Ile89=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2940952	NM_015046.7(SETX):c.3018A>T (p.Gly1006=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2940624	NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)	SETX (F1090C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2940426	NM_015046.7(SETX):c.2443T>A (p.Leu815Met)	SETX (L815M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2940310	NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)	SETX (V2013I)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2940290	NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)	SETX (D1443N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2940007	NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)	SETX (R1669K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2939665	NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)	SETX (S1394L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2938807	NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)	SETX (E1795D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2938385	NM_015046.7(SETX):c.5949+13G>A	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2938237	NM_015046.7(SETX):c.4374C>T (p.Val1458=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 2938224	NM_015046.7(SETX):c.135T>A (p.Ala45=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign

<< First< Prev

Page of 18