LOC130064279[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
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 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 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 1656425	NM_001042631.3(SDHAF1):c.42G>C (p.Leu14=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1530200	NM_001042631.3(SDHAF1):c.45C>T (p.Tyr15=)	LOC130064279, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 3316864	NM_001042631.3(SDHAF1):c.64G>C (p.Gly22Arg)	LOC130064279, SDHAF1 (G22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316865	NM_001042631.3(SDHAF1):c.65G>T (p.Gly22Val)	LOC130064279, SDHAF1 (G22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2421702	NM_001042631.3(SDHAF1):c.73A>C (p.Lys25Gln)	SDHAF1, LOC130064279 (K25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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

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Items: 20