"PreventionGenetics, part of Exact Sciences"[submitter] AND "DPAGT1"[g - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255485	NM_000190.4(HMBS):c.606G>T (p.Val202=)	DPAGT1, HMBS	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13 +4 more	GBenign
Select item 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	Acute intermittent porphyria +4 more	GConflicting classifications of pathogenicity
Select item 258077	NM_001382.4(DPAGT1):c.918-18G>A	DPAGT1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 386275	NM_001382.4(DPAGT1):c.729-4A>C	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +5 more	GConflicting classifications of pathogenicity
Select item 302748	NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +3 more	GConflicting classifications of pathogenicity
Select item 1535563	NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-related disorder +2 more	GLikely benign
Select item 540462	NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity