"Ambry Genetics"[submitter] AND "PGM5-AS1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2207257	NM_021965.4(PGM5):c.40G>A (p.Ala14Thr)	PGM5, PGM5-AS1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382747	NM_021965.4(PGM5):c.49G>A (p.Glu17Lys)	PGM5, PGM5-AS1 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258318	NM_021965.4(PGM5):c.52G>C (p.Asp18His)	PGM5, PGM5-AS1 (D18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224001	NM_021965.4(PGM5):c.76G>A (p.Gly26Ser)	PGM5, PGM5-AS1 (G26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458700	NM_021965.4(PGM5):c.94G>A (p.Gly32Ser)	PGM5, PGM5-AS1 (G32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614388	NM_021965.4(PGM5):c.117C>G (p.Asn39Lys)	PGM5, PGM5-AS1 (N39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550131	NM_021965.4(PGM5):c.186G>T (p.Met62Ile)	PGM5, PGM5-AS1 (M62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347296	NM_021965.4(PGM5):c.202G>A (p.Gly68Ser)	PGM5, PGM5-AS1 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211868	NM_021965.4(PGM5):c.221C>A (p.Thr74Lys)	PGM5, PGM5-AS1 (T74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance