"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365336	NM_015046.7(SETX):c.7914C>T (p.Phe2638=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 195975	NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)	SETX (S2612G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 365339	NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)	SETX (R2605Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 95669	NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)	SETX (I2587V +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
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	SETX, LOC126860782	Duplication (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 260517	NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)	SETX (D2372N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +4 more	GBenign/Likely benign
Select item 260514	NM_015046.7(SETX):c.6935+8T>C	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 1165171	NM_015046.7(SETX):c.6843-16dup	SETX	Duplication (intron variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 810897	NM_015046.7(SETX):c.6843-5del	SETX	Deletion (intron variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign
Select item 260511	NM_015046.7(SETX):c.6507G>A (p.Gly2169=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 536402	NM_015046.7(SETX):c.6108A>G (p.Gly2036=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related condition +3 more	GBenign
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 95667	NM_015046.7(SETX):c.5811T>C (p.Asp1937=)	SETX	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95666	NM_015046.7(SETX):c.5781+12dup	SETX	Duplication (intron variant)	Amyotrophic Lateral Sclerosis, Dominant +4 more	GBenign
Select item 95665	NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)	SETX (T1855A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 468517	NM_015046.7(SETX):c.5375-18CTT[2]	SETX	Microsatellite (intron variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 95664	NM_015046.7(SETX):c.5374+16C>T	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 468516	NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)	SETX (P1661R)	Single nucleotide variant (missense variant)	SETX-related condition +6 more	GConflicting classifications of pathogenicity
Select item 448330	NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)	SETX (P1622L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 260506	NM_015046.7(SETX):c.4755T>G (p.Pro1585=)	SETX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 260505	NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)	SETX (C1554G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GBenign/Likely benign
Select item 1210068	NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs)	SETX (L1544fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 155746	NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)	SETX (K1425E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
Select item 468507	NM_015046.7(SETX):c.4197A>G (p.Thr1399=)	SETX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 95663	NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)	SETX (I1386V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 468505	NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)	SETX (S1366P)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 1209873	NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)	SETX (R1364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 242634	NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)	SETX (P1270L)	Single nucleotide variant (missense variant)	SETX-related condition +4 more	GConflicting classifications of pathogenicity
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 536397	NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)	SETX (K1190E)	Single nucleotide variant (missense variant)	SETX-related condition +3 more	GBenign
Select item 95660	NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)	SETX (F1152C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 1210045	NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)	SETX (G1137D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 260504	NM_015046.7(SETX):c.3345C>G (p.Ala1115=)	SETX	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 448322	NM_015046.7(SETX):c.3336T>C (p.Ala1112=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related condition +6 more	GBenign/Likely benign
Select item 468499	NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)	SETX (P1061L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 193716	NM_015046.7(SETX):c.3147C>T (p.His1049=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 260502	NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)	SETX (K992R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +5 more	GConflicting classifications of pathogenicity
Select item 468494	NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)	SETX (K827E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +7 more	GConflicting classifications of pathogenicity
Select item 365367	NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)	SETX (G739E)	Single nucleotide variant (missense variant)	SETX-related condition +6 more	GBenign/Likely benign
Select item 95659	NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)	SETX (A660G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 95658	NM_015046.7(SETX):c.1077T>C (p.Tyr359=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign
Select item 468522	NM_015046.7(SETX):c.717A>G (p.Leu239=)	SETX	Single nucleotide variant (synonymous variant)	SETX-related condition +3 more	GBenign/Likely benign
Select item 260507	NM_015046.7(SETX):c.498+20G>A	SETX	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 4 +3 more	GBenign/Likely benign
Select item 242635	NM_015046.7(SETX):c.59G>A (p.Arg20His)	SETX (R20H)	Single nucleotide variant (missense variant)	SETX-related condition +5 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46