LOC130064281[gene] - ClinVar - NCBI

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Items: 18

	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 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 193150	NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser)	LOC130064281, SDHAF1 (C90S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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 1559900	NM_001042631.3(SDHAF1):c.279C>T (p.Asp93=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 388887	NM_001042631.3(SDHAF1):c.309C>T (p.Asp103=)	SDHAF1, LOC130064281	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 618361	NM_001042631.3(SDHAF1):c.321A>C (p.Ala107=)	LOC130064281, SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3438721	NM_001042631.3(SDHAF1):c.323C>T (p.Pro108Leu)	LOC130064281, SDHAF1 (P108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 139090	NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser)	LOC130064281, SDHAF1 (P112S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 1191089	NM_001042631.3(SDHAF1):c.*16A>G	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign