"Ambry Genetics"[submitter] AND "FDPS"[gene] - ClinVar - NCBI

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Items: 19

	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 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 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 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 3094322	NM_002004.4(FDPS):c.583A>G (p.Ile195Val)	FDPS, RUSC1-AS1 (I24V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300803	NM_002004.4(FDPS):c.587A>G (p.Asn196Ser)	FDPS, RUSC1-AS1 (N196S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617445	NM_002004.4(FDPS):c.650C>A (p.Pro217His)	FDPS, RUSC1-AS1 (P151H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094324	NM_002004.4(FDPS):c.673C>G (p.Leu225Val)	FDPS, RUSC1-AS1 (L225V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337676	NM_002004.4(FDPS):c.742A>C (p.Asn248His)	FDPS, RUSC1-AS1 (N182H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234349	NM_002004.4(FDPS):c.869A>C (p.Glu290Ala)	FDPS, RUSC1-AS1 (E119A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094325	NM_002004.4(FDPS):c.919A>G (p.Ile307Val)	FDPS, RUSC1-AS1 (I136V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094326	NM_002004.4(FDPS):c.986A>C (p.Gln329Pro)	FDPS, RUSC1-AS1 (Q158P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553292	NM_002004.4(FDPS):c.1000A>G (p.Ser334Gly)	FDPS, RUSC1-AS1 (S268G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486601	NM_002004.4(FDPS):c.1046A>C (p.Tyr349Ser)	FDPS, RUSC1-AS1 (Y349S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance