"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 30

	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 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 365342	NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)	SETX (P2575L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 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 448346	NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)	SETX (T2478A +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +4 more	GConflicting classifications of pathogenicity
Select item 260514	NM_015046.7(SETX):c.6935+8T>C	SETX	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1165171	NM_015046.7(SETX):c.6843-16dup	SETX	Duplication (intron variant)	not provided +2 more	GBenign
Select item 260511	NM_015046.7(SETX):c.6507G>A (p.Gly2169=)	SETX	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 260510	NM_015046.7(SETX):c.6106+14G>A	SETX	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 95667	NM_015046.7(SETX):c.5811T>C (p.Asp1937=)	SETX	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 4 +3 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 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)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 448330	NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)	SETX (P1622L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +3 more	GConflicting classifications of pathogenicity
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 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 242634	NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)	SETX (P1270L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95662	NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)	SETX (G1252R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign
Select item 468501	NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)	SETX (K1221N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 4 +2 more	GBenign/Likely benign
Select item 95661	NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)	SETX (D1192E)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +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 260504	NM_015046.7(SETX):c.3345C>G (p.Ala1115=)	SETX	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 448322	NM_015046.7(SETX):c.3336T>C (p.Ala1112=)	SETX	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GBenign/Likely benign
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 365367	NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)	SETX (G739E)	Single nucleotide variant (missense variant)	not provided +5 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 260507	NM_015046.7(SETX):c.498+20G>A	SETX	Single nucleotide variant (intron variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +3 more	GBenign/Likely benign
Select item 242635	NM_015046.7(SETX):c.59G>A (p.Arg20His)	SETX (R20H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

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Items: 30