SOD1-DT[gene] - ClinVar

Search results

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
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 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	LOC130066520, LOC130066521 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	BACH1, BACH1-IT2 +215 more	Copy number loss	Monosomy 21	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 896435	NM_000454.4(SOD1):c.-91C>G	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 898063	NM_000454.4(SOD1):c.-87G>C	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 896436	NM_000454.4(SOD1):c.-87G>A	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 339661	NM_000454.4(SOD1):c.-84C>G	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 339662	NM_000454.4(SOD1):c.-83T>C	SOD1-DT, SOD1	Single nucleotide variant (non-coding transcript variant)	Amyotrophic lateral sclerosis type 1	GBenign
Select item 339663	NM_000454.5(SOD1):c.-56T>A	SOD1, SOD1-DT	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 339665	NM_000454.5(SOD1):c.-55C>T	SOD1, SOD1-DT	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 339664	NM_000454.5(SOD1):c.-55C>G	SOD1, SOD1-DT	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 339666	NM_000454.5(SOD1):c.-48T>A	SOD1, SOD1-DT	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 1 +1 more	GBenign
Select item 339667	NM_000454.5(SOD1):c.-26A>G	SOD1, SOD1-DT	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 3054990	NM_000454.5(SOD1):c.-3G>A	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GLikely benign
Select item 3348663	NM_000454.5(SOD1):c.8C>T (p.Thr3Met)	SOD1, SOD1-DT (T3M)	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GUncertain significance
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 873321	NM_000454.5(SOD1):c.13G>T (p.Ala5Ser)	SOD1, SOD1-DT (A5S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 14765	NM_000454.5(SOD1):c.13G>A (p.Ala5Thr)	SOD1, SOD1-DT (A5T)	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 2420083	NM_000454.5(SOD1):c.15C>T (p.Ala5=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1926438	NM_000454.5(SOD1):c.16G>A (p.Val6Met)	SOD1, SOD1-DT (V6M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1391413	NM_000454.5(SOD1):c.17T>C (p.Val6Ala)	SOD1, SOD1-DT (V6A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1500897	NM_000454.5(SOD1):c.19T>G (p.Cys7Gly)	SOD1, SOD1-DT (C7G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1500887	NM_000454.5(SOD1):c.19T>A (p.Cys7Ser)	SOD1, SOD1-DT (C7S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 14771	NM_000454.5(SOD1):c.20G>T (p.Cys7Phe)	SOD1, SOD1-DT (C7F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 1409977	NM_000454.5(SOD1):c.25C>G (p.Leu9Val)	SOD1, SOD1-DT (L9V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2138373	NM_000454.5(SOD1):c.26T>A (p.Leu9Gln)	SOD1, SOD1-DT (L9Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1643211	NM_000454.5(SOD1):c.27G>A (p.Leu9=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GLikely benign
Select item 3345429	NM_000454.5(SOD1):c.32G>C (p.Gly11Ala)	SOD1, SOD1-DT (G11A)	Single nucleotide variant (non-coding transcript variant +1 more)	SOD1-related disorder	GPathogenic
Select item 2690932	NM_000454.5(SOD1):c.34G>T (p.Asp12Tyr)	SOD1, SOD1-DT (D12Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 14780	NM_000454.5(SOD1):c.37G>C (p.Gly13Arg)	SOD1, SOD1-DT (G13R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1903944	NM_000454.5(SOD1):c.39C>T (p.Gly13=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1514873	NM_000454.5(SOD1):c.43G>C (p.Val15Leu)	SOD1, SOD1-DT (V15L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 873322	NM_000454.5(SOD1):c.43G>A (p.Val15Met)	SOD1, SOD1-DT (V15M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic/Likely pathogenic
Select item 1500907	NM_000454.5(SOD1):c.44T>G (p.Val15Gly)	SOD1, SOD1-DT (V15G)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 1477719	NM_000454.5(SOD1):c.49G>T (p.Gly17Cys)	SOD1, SOD1-DT (G17C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 14776	NM_000454.5(SOD1):c.49G>A (p.Gly17Ser)	SOD1-DT, SOD1 (G17S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 586638	NM_000454.5(SOD1):c.50G>C (p.Gly17Ala)	SOD1, SOD1-DT (G17A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1747939	NM_000454.5(SOD1):c.54C>A (p.Ile18=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2004638	NM_000454.5(SOD1):c.55A>T (p.Ile19Phe)	SOD1, SOD1-DT (I19F)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 652612	NM_000454.5(SOD1):c.56T>C (p.Ile19Thr)	SOD1, SOD1-DT (I19T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 2857833	NM_000454.5(SOD1):c.59A>T (p.Asn20Ile)	SOD1, SOD1-DT (N20I)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GUncertain significance
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 2026923	NM_000454.5(SOD1):c.60T>C (p.Asn20=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1459352	NM_000454.5(SOD1):c.62T>G (p.Phe21Cys)	SOD1, SOD1-DT (F21C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 859765	NM_000454.5(SOD1):c.63C>G (p.Phe21Leu)	SOD1, SOD1-DT (F21L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 14773	NM_000454.5(SOD1):c.64G>A (p.Glu22Lys)	SOD1, SOD1-DT (E22K)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic
Select item 339668	NM_000454.5(SOD1):c.66G>A (p.Glu22=)	SOD1, SOD1-DT	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2866770	NM_000454.5(SOD1):c.68A>C (p.Gln23Pro)	SOD1, SOD1-DT (Q23P)	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GLikely pathogenic
Select item 873323	NM_000454.5(SOD1):c.68A>T (p.Gln23Leu)	SOD1, SOD1-DT (Q23L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1	GPathogenic/Likely pathogenic
Select item 1505077	NM_000454.5(SOD1):c.69G>C (p.Gln23His)	SOD1, SOD1-DT (Q23H)	Single nucleotide variant (missense variant)	SOD1-related disorder +1 more	GLikely pathogenic
Select item 1630659	NM_000454.5(SOD1):c.72+13A>G	SOD1, SOD1-DT	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1	GLikely benign
Select item 1328020	NM_000454.5(SOD1):c.72+19G>A	SOD1, SOD1-DT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2723039	NM_000454.5(SOD1):c.72+20C>T	SOD1, SOD1-DT	Single nucleotide variant (non-coding transcript variant +1 more)	Amyotrophic lateral sclerosis type 1	GUncertain significance
Select item 1257173	NM_000454.5(SOD1):c.72+133C>T	LOC130066533, SOD1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 87