ClinVar for MedGen (Select 1648421) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1301611	NM_004462.5(FDFT1):c.100-84TCCCAC[11]	FDFT1	Microsatellite (inframe_indel +2 more)	Squalene synthase deficiency	GUncertain significance
Select item 1285267	NM_004462.5(FDFT1):c.1033-25T>C	FDFT1	Single nucleotide variant (intron variant)	Squalene synthase deficiency	GBenign
Select item 1285266	NM_004462.5(FDFT1):c.972G>C (p.Leu324=)	FDFT1	Single nucleotide variant (synonymous variant)	FDFT1-related condition +1 more	GBenign
Select item 1285265	NM_004462.5(FDFT1):c.631T>C (p.Leu211=)	FDFT1	Single nucleotide variant (synonymous variant)	Squalene synthase deficiency	GBenign
Select item 1285264	NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg)	FDFT1 (K104R +1 more)	Single nucleotide variant (missense variant +2 more)	FDFT1-related condition +1 more	GBenign
Select item 1276491	NM_004462.5(FDFT1):c.879+9G>C	FDFT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028764	NM_004462.5(FDFT1):c.670C>G (p.Gln224Glu)	FDFT1 (Q57E +4 more)	Single nucleotide variant (missense variant)	Squalene synthase deficiency	GUncertain significance
Select item 1028763	NM_004462.5(FDFT1):c.19C>A (p.Leu7Ile)	FDFT1 (P2H +1 more)	Single nucleotide variant (missense variant +2 more)	Squalene synthase deficiency	GUncertain significance
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 599353	NC_000008.10:g.11667760_11787743del119984	CTSB, FDFT1 +10 more	Deletion	Squalene synthase deficiency	GLikely pathogenic
Select item 587362	NM_001287742.2(FDFT1):c.-75+131_-75+146del	FDFT1, LOC129999903	Deletion (intron variant)	Squalene synthase deficiency	GLikely pathogenic
Select item 587361	NM_004462.5(FDFT1):c.880-24_880-23delinsAG	FDFT1	Indel (intron variant)	Squalene synthase deficiency	GLikely pathogenic
Select item 587360	NC_000008.10:g.11667760_11787743del	CTSB, FDFT1	Deletion	Squalene synthase deficiency	GPathogenic