"Ambry Genetics"[submitter] AND "PGD"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335172	NM_002631.4(PGD):c.109T>C (p.Ser37Pro)	PGD (S37P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305974	NM_002631.4(PGD):c.214A>T (p.Ile72Phe)	PGD (I59F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211783	NM_002631.4(PGD):c.250T>G (p.Phe84Val)	PGD (F71V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395006	NM_002631.4(PGD):c.261A>T (p.Lys87Asn)	PGD (K87N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334063	NM_002631.4(PGD):c.419C>T (p.Ser140Leu)	PGD (S127L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305976	NM_002631.4(PGD):c.446C>G (p.Ala149Gly)	PGD (A127G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543757	NM_002631.4(PGD):c.473A>C (p.Gln158Pro)	PGD (Q145P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211784	NM_002631.4(PGD):c.487A>G (p.Lys163Glu)	PGD (K141E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305975	NM_002631.4(PGD):c.642C>G (p.Asp214Glu)	PGD (D192E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210264	NM_002631.4(PGD):c.697A>G (p.Ile233Val)	PGD (I220V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551322	NM_002631.4(PGD):c.805A>G (p.Ile269Val)	PGD (I247V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211785	NM_002631.4(PGD):c.822C>T (p.Tyr274=)	PGD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2486371	NM_002631.4(PGD):c.901A>G (p.Ser301Gly)	PGD (S288G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211778	NM_002631.4(PGD):c.1042G>A (p.Glu348Lys)	PGD (E348K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272778	NM_002631.4(PGD):c.1052G>C (p.Trp351Ser)	PGD (W338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211779	NM_002631.4(PGD):c.1061A>G (p.Asn354Ser)	PGD (N341S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377152	NM_002631.4(PGD):c.1083G>A (p.Met361Ile)	PGD (M361I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616070	NM_002631.4(PGD):c.1094G>A (p.Gly365Asp)	PGD (G365D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298575	NM_002631.4(PGD):c.1104T>G (p.Ile368Met)	PGD (I346M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523043	NM_002631.4(PGD):c.1111G>C (p.Val371Leu)	PGD (V349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211780	NM_002631.4(PGD):c.1124A>G (p.Lys375Arg)	PGD (K353R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310041	NM_002631.4(PGD):c.1128A>G (p.Ile376Met)	PGD (I363M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211781	NM_002631.4(PGD):c.1228G>A (p.Val410Ile)	PGD (V388I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211782	NM_002631.4(PGD):c.1289A>G (p.Tyr430Cys)	PGD (Y430C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532497	NM_002631.4(PGD):c.1374G>T (p.Leu458Phe)	PGD (L436F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251791	NM_002631.4(PGD):c.1381C>T (p.Pro461Ser)	PGD (P461S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26