ClinVar for MedGen (Select 355983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not specified +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
Select item 2938093	NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)	SETX (D2358E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2937675	NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)	SETX (D2336V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2937674	NM_015046.7(SETX):c.5019del (p.Val1674fs)	SETX (V1674fs)	Deletion (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GPathogenic
Select item 2937578	NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)	SETX (T663I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2937446	NM_015046.7(SETX):c.5994C>T (p.Ile1998=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +1 more	GLikely benign
Select item 2937405	NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)	SETX (W2585L +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2936892	NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)	SETX (E1492D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2936796	NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)	SETX (T1755A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2936598	NM_015046.7(SETX):c.878T>G (p.Phe293Cys)	SETX (F293C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2936209	NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)	SETX (R1899P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2936166	NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)	SETX (K1272N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2936161	NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)	SETX (C788W)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2936059	NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)	SETX (L1643F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GBenign
Select item 2935702	NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)	SETX (K2466Q +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +1 more	GUncertain significance
Select item 2935437	NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)	SETX (D1490N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2934744	NM_015046.7(SETX):c.2316T>C (p.Leu772=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2934658	NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)	SETX (C726Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2934424	NM_015046.7(SETX):c.387_388+2del	SETX	Deletion (splice donor variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GPathogenic
Select item 2934126	NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)	SETX (L747F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2934125	NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)	SETX	Insertion (inframe_indel)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2933933	NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)	SETX (L2266V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2933815	NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)	SETX (A2079V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2933486	NM_015046.7(SETX):c.6654+9_6654+11del	SETX	Deletion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2933264	NM_015046.7(SETX):c.6209-12T>G	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2933256	NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)	SETX (S1200C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2933189	NM_015046.7(SETX):c.1783A>G (p.Ile595Val)	SETX (I595V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2933103	NM_015046.7(SETX):c.4641A>G (p.Thr1547=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2933053	NM_015046.7(SETX):c.7100+19T>C	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932977	NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)	SETX (D1172G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932893	NM_015046.7(SETX):c.5375-20G>T	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932868	NM_015046.7(SETX):c.3699C>T (p.Ile1233=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932626	NM_015046.7(SETX):c.34G>T (p.Ala12Ser)	SETX (A12S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932581	NM_015046.7(SETX):c.1173T>C (p.Ser391=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2932304	NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)	SETX (L2322V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2932258	NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)	SETX (S1613Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2932255	NM_015046.7(SETX):c.7041T>C (p.His2347=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2932231	NM_015046.7(SETX):c.6516T>G (p.Gly2172=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2931721	NM_015046.7(SETX):c.173A>G (p.His58Arg)	SETX (H58R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2931661	NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)	SETX (K1133N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GUncertain significance
Select item 2931522	NM_015046.7(SETX):c.6208+17G>T	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2931512	NM_015046.7(SETX):c.3632G>A (p.Arg1211His)	SETX (R1211H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign
Select item 2931427	NM_015046.7(SETX):c.5781+7G>A	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GLikely benign
Select item 2931319	NM_015046.7(SETX):c.682A>G (p.Met228Val)	SETX (M228V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more	GBenign

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