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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373623	NM_002632.6(PGF):c.505C>T (p.Arg169Trp)	PGF (R148W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454442	NM_002632.6(PGF):c.443G>A (p.Gly148Glu)	PGF (G148E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305977	NM_002632.6(PGF):c.430C>T (p.Pro144Ser)	PGF (P143S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220622	NM_002632.6(PGF):c.400C>T (p.Arg134Trp)	PGF (R133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334686	NM_002632.6(PGF):c.398T>A (p.Leu133Gln)	PGF (L132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619851	NM_002632.6(PGF):c.385G>A (p.Glu129Lys)	PGF (E129K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305978	NM_002632.6(PGF):c.380G>A (p.Arg127His)	PGF (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356143	NM_002632.6(PGF):c.376G>A (p.Val126Ile)	PGF (V126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527635	NM_002632.6(PGF):c.362C>T (p.Thr121Met)	PGF (T120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211789	NM_002632.6(PGF):c.352G>A (p.Val118Met)	PGF (V117M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287292	NM_002632.6(PGF):c.329G>T (p.Arg110Leu)	PGF (R109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211788	NM_002632.6(PGF):c.296C>T (p.Thr99Met)	PGF (T98M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211787	NM_002632.6(PGF):c.181G>A (p.Val61Ile)	PGF (V60I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211786	NM_002632.6(PGF):c.161C>T (p.Ala54Val)	PGF (A53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance