"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PGM1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382980	NM_002633.3(PGM1):c.99C>T (p.Ala33=)	LOC129930668, PGM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 297871	NM_002633.3(PGM1):c.262A>G (p.Ile88Val)	PGM1 (I88V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1418179	NM_002633.3(PGM1):c.529T>G (p.Leu177Val)	PGM1 (L177V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 558801	NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)	PGM1 (S191L +1 more)	Single nucleotide variant (missense variant +1 more)	PGM1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 297874	NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)	PGM1 (R221C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 558802	NM_002633.3(PGM1):c.683-23_683-22delinsTT	PGM1	Indel (intron variant)	not provided	GBenign
Select item 558803	NM_002633.3(PGM1):c.683-22A>T	PGM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1302539	NM_002633.3(PGM1):c.734C>T (p.Ala245Val)	PGM1 (A245V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1693936	NM_002633.3(PGM1):c.754G>C (p.Val252Leu)	PGM1 (V252L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966912	NM_002633.3(PGM1):c.975G>T (p.Gln325His)	PGM1 (Q128H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 297879	NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)	PGM1 (R329C +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +3 more	GUncertain significance
Select item 2498037	NM_002633.3(PGM1):c.1144+3A>T	PGM1	Single nucleotide variant (intron variant)	not provided	GPathogenic/Likely pathogenic
Select item 297883	NM_002633.3(PGM1):c.1145-7C>G	PGM1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1313936	NM_002633.3(PGM1):c.1160G>A (p.Arg387His)	PGM1 (R190H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 297885	NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)	PGM1 (Y420H +2 more)	Single nucleotide variant (missense variant)	PGM1-congenital disorder of glycosylation +3 more	GBenign
Select item 285889	NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp)	PGM1 (R440W +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 297886	NM_002633.3(PGM1):c.1280+7C>T	PGM1	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 297890	NM_002633.3(PGM1):c.1464+14G>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation +3 more	GBenign
Select item 297891	NM_002633.3(PGM1):c.1500C>T (p.Ile500=)	PGM1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 297892	NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)	PGM1 (V501I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3379722	NM_002633.3(PGM1):c.1556A>C (p.Asp519Ala)	PGM1 (D322A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297893	NM_002633.3(PGM1):c.1599+9C>T	PGM1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 558804	NM_002633.3(PGM1):c.1600-23G>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation +2 more	GBenign
Select item 297894	NM_002633.3(PGM1):c.*22C>T	PGM1	Single nucleotide variant (3 prime UTR variant)	PGM1-congenital disorder of glycosylation +3 more	GBenign/Likely benign

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Items: 24