SOD3[gene] - ClinVar

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

Search results

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 146078	GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1	ANAPC4, CCDC149 +101 more	Copy number loss	See cases	GPathogenic
Select item 775951	NM_003102.4(SOD3):c.9G>C (p.Ala3=)	SOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2615401	NM_003102.4(SOD3):c.32T>A (p.Leu11Gln)	SOD3 (L11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600279	NM_003102.4(SOD3):c.51C>A (p.Asp17Glu)	SOD3 (D17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555411	NM_003102.4(SOD3):c.59C>T (p.Thr20Met)	SOD3 (T20M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037717	NM_003102.4(SOD3):c.83A>G (p.Asn28Ser)	SOD3 (N28S)	Single nucleotide variant (missense variant)	SOD3-related disorder	GLikely benign
Select item 713304	NM_003102.4(SOD3):c.93G>A (p.Ser31=)	SOD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3321419	NM_003102.4(SOD3):c.94G>A (p.Ala32Thr)	SOD3 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714475	NM_003102.4(SOD3):c.117C>T (p.Tyr39=)	SOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508475	NM_003102.4(SOD3):c.143A>T (p.Glu48Val)	SOD3 (E48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508476	NM_003102.4(SOD3):c.144G>C (p.Glu48Asp)	SOD3 (E48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485365	NM_003102.4(SOD3):c.158G>C (p.Arg53Pro)	SOD3 (R53P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248377	NM_003102.4(SOD3):c.166G>A (p.Asp56Asn)	SOD3 (D56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407548	NM_003102.4(SOD3):c.169G>C (p.Gly57Arg)	SOD3 (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060834	NM_003102.4(SOD3):c.172G>A (p.Ala58Thr)	SOD3 (A58T)	Single nucleotide variant (missense variant)	SOD3-related disorder	GBenign
Select item 3060611	NM_003102.4(SOD3):c.211C>T (p.Leu71=)	SOD3	Single nucleotide variant (synonymous variant)	SOD3-related disorder	GBenign
Select item 3321420	NM_003102.4(SOD3):c.263C>G (p.Ala88Gly)	SOD3 (A88G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481231	NM_003102.4(SOD3):c.265C>A (p.Pro89Thr)	SOD3 (P89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708784	NM_003102.4(SOD3):c.271G>A (p.Ala91Thr)	SOD3 (A91T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3167446	NM_003102.4(SOD3):c.313G>C (p.Glu105Gln)	SOD3 (E105Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604392	NM_003102.4(SOD3):c.356G>C (p.Gly119Ala)	SOD3 (G119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394014	NM_003102.4(SOD3):c.366C>A (p.Ser122Arg)	SOD3 (S122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624147	NM_003102.4(SOD3):c.401C>T (p.Pro134Leu)	SOD3 (P134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167447	NM_003102.4(SOD3):c.449C>T (p.Ala150Val)	SOD3 (A150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321709	NM_003102.4(SOD3):c.476A>G (p.Tyr159Cys)	SOD3 (Y159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350116	NM_003102.4(SOD3):c.482C>T (p.Ala161Val)	SOD3 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488651	NM_003102.4(SOD3):c.502G>A (p.Ala168Thr)	SOD3 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551714	NM_003102.4(SOD3):c.509C>A (p.Pro170Gln)	SOD3 (P170Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058748	NM_003102.4(SOD3):c.524G>A (p.Gly175Asp)	SOD3 (G175D)	Single nucleotide variant (missense variant)	SOD3-related disorder	GLikely benign
Select item 2228951	NM_003102.4(SOD3):c.536T>G (p.Val179Gly)	SOD3 (V179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167448	NM_003102.4(SOD3):c.550G>A (p.Glu184Lys)	SOD3 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357418	NM_003102.4(SOD3):c.566G>T (p.Arg189Leu)	SOD3 (R189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538623	NM_003102.4(SOD3):c.589G>A (p.Glu197Lys)	SOD3 (E197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374319	NM_003102.4(SOD3):c.600C>A (p.Asn200Lys)	SOD3 (N200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043458	NM_003102.4(SOD3):c.603G>A (p.Ala201=)	SOD3	Single nucleotide variant (synonymous variant)	SOD3-related disorder	GLikely benign
Select item 3167450	NM_003102.4(SOD3):c.659G>T (p.Arg220Leu)	SOD3 (R220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12777	NM_003102.4(SOD3):c.691C>G (p.Arg231Gly)	SOD3 (R231G)	Single nucleotide variant (missense variant)	SOD3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3321418	NM_003102.4(SOD3):c.706G>C (p.Glu236Gln)	SOD3 (E236Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1527079	GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)	ANAPC4, CCDC149 +15 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253450	GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1	ZCCHC4, RBPJ +14 more	Copy number loss	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic

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: 69