"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1259045	NM_002633.3(PGM1):c.246+67C>T	LOC129930669, PGM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 297874	NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)	PGM1 (R221C +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 558803	NM_002633.3(PGM1):c.683-22A>T	PGM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 676178	NM_002633.3(PGM1):c.1028+55A>G	PGM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 +2 more	GBenign
Select item 1269299	NM_002633.3(PGM1):c.1280+106G>T	PGM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 297890	NM_002633.3(PGM1):c.1464+14G>T	PGM1	Single nucleotide variant (intron variant)	PGM1-congenital disorder of glycosylation +2 more	GBenign
Select item 558804	NM_002633.3(PGM1):c.1600-23G>T	PGM1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 297894	NM_002633.3(PGM1):c.*22C>T	PGM1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 297897	NM_002633.3(PGM1):c.*93A>C	PGM1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign