Related gene-specific medical variations for Gene (Select 644096) - ClinVar

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

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3232607	NM_001042631.3(SDHAF1):c.90G>C (p.Ala30=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3158922	NM_001042631.3(SDHAF1):c.58C>T (p.Arg20Cys)	LOC130064279, SDHAF1 (R20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158921	NM_001042631.3(SDHAF1):c.194G>T (p.Arg65Leu)	LOC130064280, SDHAF1 (R65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2714862	NM_001042631.3(SDHAF1):c.345G>A (p.Arg115=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691857	NM_001042631.3(SDHAF1):c.95T>A (p.Val32Glu)	LOC130064279, SDHAF1 (V32E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GLikely pathogenic
Select item 2615208	NM_001042631.3(SDHAF1):c.173G>C (p.Arg58Pro)	LOC130064280, SDHAF1 (R58P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606263	NM_001042631.3(SDHAF1):c.49G>C (p.Asp17His)	LOC130064279, SDHAF1 (D17H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584803	NM_001042631.3(SDHAF1):c.43T>G (p.Tyr15Asp)	SDHAF1, LOC130064279 (Y15D)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GUncertain significance
Select item 2421702	NM_001042631.3(SDHAF1):c.73A>C (p.Lys25Gln)	LOC130064279, SDHAF1 (K25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2405520	NM_001042631.3(SDHAF1):c.297G>C (p.Arg99Ser)	LOC130064281, SDHAF1 (R99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391065	NM_001042631.3(SDHAF1):c.278ACG[1] (p.Asp94del)	LOC130064281, SDHAF1 (D94del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2309939	NM_001042631.3(SDHAF1):c.253C>T (p.Pro85Ser)	LOC130064281, SDHAF1 (P85S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052601	NM_001042631.3(SDHAF1):c.312C>T (p.Ser104=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973119	NM_001042631.3(SDHAF1):c.172C>T (p.Arg58Trp)	LOC130064280, SDHAF1 (R58W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927948	NM_001042631.3(SDHAF1):c.43T>C (p.Tyr15His)	LOC130064279, SDHAF1 (Y15H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1924438	NM_001042631.3(SDHAF1):c.197C>T (p.Ser66Leu)	LOC130064280, SDHAF1 (S66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1779376	NM_001042631.3(SDHAF1):c.174G>T (p.Arg58=)	LOC130064280, SDHAF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1699123	NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	LOC130064279, SDHAF1 (Q10*)	Single nucleotide variant (nonsense)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 1656425	NM_001042631.3(SDHAF1):c.42G>C (p.Leu14=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1632188	NM_001042631.3(SDHAF1):c.66G>A (p.Gly22=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559900	NM_001042631.3(SDHAF1):c.279C>T (p.Asp93=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530200	NM_001042631.3(SDHAF1):c.45C>T (p.Tyr15=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1191089	NM_001042631.3(SDHAF1):c.*16A>G	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1033243	NM_001042631.3(SDHAF1):c.*5C>A	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 1027545	NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu)	LOC130064280, SDHAF1 (G57E)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 996867	NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser)	LOC130064281, SDHAF1 (A107S)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 888668	NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn)	LOC130064279, SDHAF1 (D17N)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 888667	NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys)	LOC130064279, SDHAF1 (R16C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 691614	NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro)	LOC130064279, SDHAF1 (Q10P)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1	GUncertain significance
Select item 618361	NM_001042631.3(SDHAF1):c.321A>C (p.Ala107=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426195	NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter)	LOC130064279, SDHAF1 (Q8*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 388887	NM_001042631.3(SDHAF1):c.309C>T (p.Asp103=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193150	NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)	LOC130064281, SDHAF1 (C90S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 139090	NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)	LOC130064281, SDHAF1 (P112S)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 139089	NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 430	NM_001042631.3(SDHAF1):c.164G>C (p.Arg55Pro)	LOC130064280, SDHAF1 (R55P)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic
Select item 429	NM_001042631.3(SDHAF1):c.169G>C (p.Gly57Arg)	LOC130064280, SDHAF1 (G57R)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 2	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37