"GeneDx"[submitter] AND "SOD1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59011	GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1	HUNK, LINC00159 +27 more	Copy number loss	See cases	GPathogenic
Select item 1207199	NC_000021.9:g.31659509G>T	LOC130066532, SOD1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 369360	NM_000454.4(SOD1):c.-156G>C	LOC130066532, SOD1 +1 more	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 339660	NC_000021.9:g.31659661A>G	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis type 1 +1 more	GBenign
Select item 2138372	NM_000454.5(SOD1):c.10A>G (p.Lys4Glu)	SOD1, SOD1-DT (K4E)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic
Select item 14763	NM_000454.5(SOD1):c.14C>T (p.Ala5Val)	SOD1, SOD1-DT (A5V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 516816	NM_000454.5(SOD1):c.59A>G (p.Asn20Ser)	SOD1, SOD1-DT (N20S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1257173	NM_000454.5(SOD1):c.72+133C>T	LOC130066533, SOD1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290348	NM_000454.5(SOD1):c.73-140G>C	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440292	NM_000454.5(SOD1):c.73-108T>A	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1253747	NM_000454.5(SOD1):c.73-8T>C	SOD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 873196	NM_000454.5(SOD1):c.95T>C (p.Val32Ala)	SOD1 (V32A)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +2 more	GConflicting classifications of pathogenicity
Select item 392404	NM_000454.5(SOD1):c.106A>T (p.Ile36Phe)	SOD1 (I36F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 14764	NM_000454.5(SOD1):c.140A>G (p.His47Arg)	SOD1 (H47R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1170537	NM_000454.5(SOD1):c.169+52_169+58del	SOD1	Deletion (intron variant)	SOD1-related disorder +2 more	GBenign/Likely benign
Select item 1222120	NM_000454.5(SOD1):c.169+192T>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244127	NM_000454.5(SOD1):c.170-286_170-285del	SOD1	Deletion (intron variant)	not provided	GBenign
Select item 1200656	NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)	SOD1 (F65L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 256202	NM_000454.5(SOD1):c.239+34A>C	SOD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1187341	NM_000454.5(SOD1):c.239+208G>A	SOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246681	NM_000454.5(SOD1):c.239+243A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220366	NM_000454.5(SOD1):c.239+358dup	SOD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1253758	NM_000454.5(SOD1):c.240-251A>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191297	NM_000454.5(SOD1):c.269C>T (p.Ala90Val)	SOD1 (A90V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 14766	NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)	SOD1 (D91A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14761	NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	SOD1 (E101G)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2442105	NM_000454.5(SOD1):c.347G>A (p.Arg116His)	SOD1 (R116H)	Single nucleotide variant (missense variant)	Spastic tetraplegia and axial hypotonia, progressive +2 more	GConflicting classifications of pathogenicity
Select item 1203555	NM_000454.5(SOD1):c.357+229C>T	SOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271332	NM_000454.5(SOD1):c.357+316T>G	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185773	NM_000454.5(SOD1):c.357+469C>A	SOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261166	NM_000454.5(SOD1):c.357+474C>T	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247442	NM_000454.5(SOD1):c.358-456del	SOD1	Deletion (intron variant)	not provided	GBenign
Select item 1221370	NM_000454.5(SOD1):c.358-413C>T	SOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189982	NM_000454.5(SOD1):c.358-130G>C	SOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 14770	NM_000454.5(SOD1):c.358-10T>G	SOD1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1212596	NM_000454.5(SOD1):c.374A>G (p.Asp125Gly)	SOD1 (D125G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1067619	NM_000454.5(SOD1):c.374A>T (p.Asp125Val)	SOD1 (D125V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2727345	NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)	SOD1 (G130R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GUncertain significance
Select item 339669	NM_000454.5(SOD1):c.423T>A (p.Ala141=)	SOD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 586637	NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)	SOD1 (L145F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 873204	NM_000454.5(SOD1):c.446T>G (p.Val149Gly)	SOD1 (V149G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 899187	NM_000454.5(SOD1):c.457G>A (p.Ala153Thr)	SOD1 (A153T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 256201	NM_000454.5(SOD1):c.*2C>T	SOD1	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253448	GRCh37/hg19 21q22.11(chr21:32578640-35060092)x1	C21orf62, IFNAR1 +24 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 3359787	NM_000454.5(SOD1):c.142G>A (p.Val48Ile)	SOD1 (V48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 49