Related gene-specific medical variations for Gene (Select 2222) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050246	NM_004462.5(FDFT1):c.100-130C>G	FDFT1, LOC129999907 (D49E)	Single nucleotide variant (missense variant +1 more)	FDFT1-related disorder	GLikely benign
Select item 3037723	NM_004462.5(FDFT1):c.100-145C>G	FDFT1, LOC129999907	Single nucleotide variant (synonymous variant +1 more)	FDFT1-related disorder	GBenign
Select item 2658413	NM_004462.5(FDFT1):c.100-208C>T	FDFT1, LOC129999907	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2579043	NM_004462.5(FDFT1):c.100-86_100-85insCTCCCA	FDFT1, LOC129999907	Insertion (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2571307	NM_004462.5(FDFT1):c.100-179C>G	FDFT1, LOC129999907 (T33S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1805053	NM_004462.5(FDFT1):c.100-101G>A	FDFT1, LOC129999907 (W59*)	Single nucleotide variant (nonsense +1 more)	Squalene synthase deficiency	GUncertain significance
Select item 1049617	NM_004462.5(FDFT1):c.100-232G>C	LOC129999907, FDFT1 (K15N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 996898	NM_004462.5(FDFT1):c.899T>A (p.Leu300Ter)	FDFT1 (L133* +4 more)	Single nucleotide variant (nonsense)	Squalene synthase deficiency	GLikely pathogenic
Select item 587362	NC_000008.11:g.11802586_11802601del	FDFT1, LOC129999903	Deletion (intron variant)	Squalene synthase deficiency	GLikely pathogenic