"GeneDx"[submitter] AND "SDHAF1"[gene] - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1239342	NC_000019.10:g.35994893A>C	SDHAF1	Single nucleotide variant	not provided	GBenign
Select item 1263124	NC_000019.10:g.35995039C>T	SDHAF1	Single nucleotide variant	not provided	GBenign
Select item 381074	NM_001042631.3(SDHAF1):c.-37C>T	SDHAF1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 215134	NM_001042631.3(SDHAF1):c.4A>C (p.Ser2Arg)	SDHAF1 (S2R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 215135	NM_001042631.3(SDHAF1):c.143T>A (p.Leu48Gln)	SDHAF1 (L48Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280451	NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	SDHAF1 (Y52*)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 512768	NM_001042631.3(SDHAF1):c.225C>T (p.Phe75=)	SDHAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 139089	NM_001042631.3(SDHAF1):c.333C>G (p.Arg111=)	SDHAF1, LOC130064281	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +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 1191089	NM_001042631.3(SDHAF1):c.*16A>G	LOC130064281, SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 328900	NM_001042631.3(SDHAF1):c.*156G>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 890370	NM_001042631.3(SDHAF1):c.*229C>T	SDHAF1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253766	GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3	SIPA1L3, ALKBH6 +41 more	Copy number gain	See cases	GUncertain significance