FDPS[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326500	NM_002004.4(FDPS):c.47C>T (p.Pro16Leu)	FDPS (P16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094320	NM_002004.4(FDPS):c.106G>A (p.Val36Met)	FDPS (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042548	NM_002004.4(FDPS):c.142C>T (p.Arg48Cys)	FDPS (R48C)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign
Select item 2509159	NM_002004.4(FDPS):c.151T>G (p.Cys51Gly)	FDPS (C51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041400	NM_002004.4(FDPS):c.189C>T (p.Ser63=)	FDPS	Single nucleotide variant (synonymous variant +2 more)	FDPS-related disorder	GBenign
Select item 2241613	NM_002004.4(FDPS):c.240G>C (p.Lys80Asn)	FDPS (K80N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 753832	NM_002004.4(FDPS):c.249C>T (p.Phe83=)	FDPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2470755	NM_002004.4(FDPS):c.270C>G (p.Ile90Met)	FDPS (I90M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278445	NM_002004.4(FDPS):c.309G>T (p.Glu103Asp)	FDPS (E103D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3094321	NM_002004.4(FDPS):c.311T>C (p.Ile104Thr)	FDPS (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3278443	NM_002004.4(FDPS):c.328C>T (p.Arg110Trp)	FDPS (R110W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3278444	NM_002004.4(FDPS):c.356C>T (p.Ala119Val)	FDPS (A119V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033559	NM_002004.4(FDPS):c.359T>C (p.Ile120Thr)	FDPS (I120T +1 more)	Single nucleotide variant (missense variant +1 more)	FDPS-related disorder	GBenign