FPGS[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2593860	NM_004957.6(FPGS):c.149G>A (p.Arg50His)	FPGS (R50H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3096638	NM_004957.6(FPGS):c.203A>C (p.Gln68Pro)	FPGS (Q18P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096639	NM_004957.6(FPGS):c.236T>C (p.Met79Thr)	FPGS (M79T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212026	NM_004957.6(FPGS):c.341C>T (p.Thr114Met)	FPGS (T114M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279706	NM_004957.6(FPGS):c.374C>T (p.Thr125Met)	FPGS (T125M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279707	NM_004957.6(FPGS):c.568C>T (p.Leu190Phe)	FPGS (L140F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096640	NM_004957.6(FPGS):c.812A>G (p.Gln271Arg)	FPGS (Q245R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349029	NM_004957.6(FPGS):c.996G>C (p.Arg332Ser)	FPGS (R282S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096635	NM_004957.6(FPGS):c.1007T>C (p.Leu336Pro)	FPGS (L336P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456699	NM_004957.6(FPGS):c.1158G>C (p.Gln386His)	FPGS (Q386H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279704	NM_004957.6(FPGS):c.1181A>G (p.Gln394Arg)	FPGS (Q394R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2248900	NM_004957.6(FPGS):c.1183G>A (p.Ala395Thr)	FPGS (A345T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522171	NM_004957.6(FPGS):c.1247C>T (p.Thr416Ile)	FPGS (T390I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275049	NM_004957.6(FPGS):c.1309G>A (p.Val437Ile)	FPGS (V411I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341528	NM_004957.6(FPGS):c.1396C>T (p.Arg466Cys)	FPGS (R416C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2321751	NM_004957.6(FPGS):c.1483G>A (p.Gly495Ser)	FPGS (G445S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353755	NM_004957.6(FPGS):c.1492G>A (p.Ala498Thr)	FPGS (A498T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2374951	NM_004957.6(FPGS):c.1507G>A (p.Ala503Thr)	FPGS (A477T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279705	NM_004957.6(FPGS):c.1511C>G (p.Pro504Arg)	FPGS (P454R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096636	NM_004957.6(FPGS):c.1627G>A (p.Gly543Ser)	FPGS (G517S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318104	NM_004957.6(FPGS):c.1660G>C (p.Ala554Pro)	FPGS (A504P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 21