"OMIM"[submitter] AND "PGM1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 663105	NM_002633.3(PGM1):c.87_88del (p.Phe29fs)	LOC129930668, PGM1 (F29fs)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 133287	NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)	LOC129930668, PGM1 (N38Y)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 965085	NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)	LOC129930668, PGM1 (Q53fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 133288	NM_002633.3(PGM1):c.184G>C (p.Asp62His)	PGM1, LOC129930668 (D62H)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 13650	NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)	PGM1 (T115A +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 39771	NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)	PGM1 (G121R +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 133290	NM_002633.3(PGM1):c.661del (p.Arg221fs)	PGM1 (R221fs +2 more)	Deletion (frameshift variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 133289	NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)	PGM1 (D263Y +2 more)	Single nucleotide variant (missense variant)	PGM1-related condition +1 more	GPathogenic
Select item 13651	NM_002633.3(PGM1):c.1145-1G>C	PGM1	Single nucleotide variant (splice acceptor variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 645088	NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)	PGM1 (A461fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 39772	NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)	PGM1 (R503* +2 more)	Single nucleotide variant (nonsense)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 133286	NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)	PGM1 (L516P +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation	GPathogenic
Select item 1064684	PGM1, ARG521TER	PGM1	Single nucleotide variant	PGM1-congenital disorder of glycosylation	GPathogenic