"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993766	NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)	SETX (N2656S +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 440264	NM_015046.7(SETX):c.7943C>T (p.Ser2648Phe)	SETX (S2648F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 468528	NM_015046.7(SETX):c.7905C>T (p.Ala2635=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 1679473	NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)	SETX (Q2619R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 365342	NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)	SETX (P2575L +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 568960	NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)	SETX (F2554L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 155748	NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)	SETX (I2547T +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity
Select item 468523	NM_015046.7(SETX):c.7200-10dup	LOC126860782, SETX	Duplication (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 440265	NM_015046.7(SETX):c.7200-11_7200-10del	LOC126860782, SETX	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 260517	NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)	SETX (D2372N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 811380	NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)	SETX (P2368R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 440266	NM_015046.7(SETX):c.7101A>G (p.Gly2367=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 810897	NM_015046.7(SETX):c.6843-5del	SETX	Deletion (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GBenign
Select item 260511	NM_015046.7(SETX):c.6507G>A (p.Gly2169=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 260510	NM_015046.7(SETX):c.6106+14G>A	SETX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 488730	NM_015046.7(SETX):c.5949+5G>A	SETX	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 468519	NM_015046.7(SETX):c.5901A>G (p.Thr1967=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GLikely benign
Select item 468517	NM_015046.7(SETX):c.5375-18CTT[2]	SETX	Microsatellite (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 365351	NM_015046.7(SETX):c.5283A>G (p.Gln1761=)	SETX	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 618872	NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)	SETX (S1684C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GConflicting classifications of pathogenicity
Select item 260506	NM_015046.7(SETX):c.4755T>G (p.Pro1585=)	SETX	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 260505	NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)	SETX (C1554G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 155745	NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)	SETX (N1409Y)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 568959	NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)	SETX (C1368F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 2428507	NM_015046.7(SETX):c.4048A>G (p.Met1350Val)	SETX (M1350V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95662	NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)	SETX (G1252R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 95661	NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)	SETX (D1192E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 1330825	NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del)	SETX (N1189del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 95660	NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)	SETX (F1152C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 424687	NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)	SETX (D1077N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 705936	NM_015046.7(SETX):c.3210T>C (p.Leu1070=)	SETX	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 365360	NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)	SETX (T1067I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 468499	NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)	SETX (P1061L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 440267	NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)	SETX (N1004D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1330733	NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)	SETX (K995N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 260502	NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SETX (K992R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 365364	NM_015046.7(SETX):c.2672T>C (p.Val891Ala)	SETX (V891A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 468494	NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)	SETX (K827E)	Single nucleotide variant (missense variant)	See cases +6 more	GConflicting classifications of pathogenicity
Select item 365367	NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)	SETX (G739E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 536399	NM_015046.7(SETX):c.1968A>G (p.Val656=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 446181	NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)	SETX (Q653K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 812050	NM_015046.7(SETX):c.1658C>T (p.Ser553Phe)	SETX (S553F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811166	NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)	SETX (R502Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 448305	NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)	SETX	Deletion (inframe_deletion)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1344008	NM_015046.7(SETX):c.1227A>G (p.Leu409=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GConflicting classifications of pathogenicity
Select item 811245	NM_015046.7(SETX):c.1221A>G (p.Thr407=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +2 more	GConflicting classifications of pathogenicity
Select item 994060	NM_015046.7(SETX):c.1140T>G (p.Pro380=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 260507	NM_015046.7(SETX):c.498+20G>A	SETX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 365376	NM_015046.7(SETX):c.472T>G (p.Leu158Val)	SETX (L158V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 811558	NM_015046.7(SETX):c.390C>T (p.Asn130=)	SETX	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 468489	NM_015046.7(SETX):c.192A>G (p.Leu64=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GConflicting classifications of pathogenicity
Select item 703898	NM_015046.7(SETX):c.81C>T (p.Ser27=)	SETX	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 242635	NM_015046.7(SETX):c.59G>A (p.Arg20His)	SETX (R20H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign

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Items: 53