"PreventionGenetics, part of Exact Sciences"[submitter] AND "PGM1"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874603	NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)	LOC129930668, PGM1 (A36E)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2729626	NM_002633.3(PGM1):c.180C>T (p.Gly60=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	PGM1-related disorder +1 more	GLikely benign
Select item 3041713	NM_002633.3(PGM1):c.247-5929T>C	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-related disorder	GLikely benign
Select item 2044266	NM_002633.3(PGM1):c.261T>C (p.Val87=)	PGM1	Single nucleotide variant (synonymous variant +1 more)	PGM1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 558801	NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)	PGM1 (S191L +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3048705	NM_002633.3(PGM1):c.682+5A>G	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 390409	NM_002633.3(PGM1):c.735G>A (p.Ala245=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 506839	NM_002633.3(PGM1):c.741G>A (p.Ser247=)	PGM1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 133289	NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)	PGM1 (D263Y +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GPathogenic
Select item 2202765	NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)	PGM1 (G291R +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 511203	NM_002633.3(PGM1):c.963G>A (p.Pro321=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 706013	NM_002633.3(PGM1):c.987C>T (p.Arg329=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation +1 more	GBenign
Select item 1599175	NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp)	PGM1 (R343W +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 252555	NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)	PGM1 (S369R +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 3036870	NM_002633.3(PGM1):c.1145-212A>G	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 3058157	NM_002633.3(PGM1):c.1389C>T (p.Asp463=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-related disorder	GLikely benign
Select item 297888	NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)	PGM1 (T467N +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 516936	NM_002633.3(PGM1):c.1600-524C>T	PGM1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3042275	NM_002633.3(PGM1):c.1600-505T>C	PGM1	Single nucleotide variant (intron variant)	PGM1-related disorder	GLikely benign
Select item 3032150	NM_002633.3(PGM1):c.*9G>A	PGM1	Single nucleotide variant (3 prime UTR variant)	PGM1-related disorder	GLikely benign

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Items: 20