"Illumina Laboratory Services, Illumina"[submitter] AND "DPAGT1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	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 302739	NM_001382.4(DPAGT1):c.*484T>C	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302740	NM_001382.4(DPAGT1):c.*427T>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302741	NM_001382.4(DPAGT1):c.*417T>C	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 878275	NM_001382.4(DPAGT1):c.*390A>G	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 878276	NM_001382.4(DPAGT1):c.*386G>A	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302742	NM_001382.4(DPAGT1):c.*379G>T	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302743	NM_001382.4(DPAGT1):c.*369A>G	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302744	NM_001382.4(DPAGT1):c.*265A>G	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 878873	NM_001382.4(DPAGT1):c.*241T>C	DPAGT1	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302745	NM_001382.4(DPAGT1):c.*184G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 368940	NM_001382.4(DPAGT1):c.*159G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 302746	NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 838195	NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)	DPAGT1 (R398Q)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +4 more	GBenign
Select item 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	DPAGT1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 302747	NM_001382.4(DPAGT1):c.918-4G>A	DPAGT1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 2637943	NM_001382.4(DPAGT1):c.858C>A (p.Phe286Leu)	DPAGT1 (F286L)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GUncertain significance
Select item 386275	NM_001382.4(DPAGT1):c.729-4A>C	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +4 more	GConflicting classifications of pathogenicity
Select item 302748	NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2637942	NM_001382.4(DPAGT1):c.710G>T (p.Gly237Val)	DPAGT1 (G237V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 13	GUncertain significance
Select item 385403	NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 302749	NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)	DPAGT1 (H162R)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 735271	NM_001382.4(DPAGT1):c.351A>G (p.Val117=)	DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 540462	NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)	DPAGT1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 13 +2 more	GConflicting classifications of pathogenicity
Select item 302750	NM_001382.4(DPAGT1):c.283-9C>T	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 386721	NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)	DPAGT1, LOC126861360	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 877294	NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val)	DPAGT1, LOC126861360 (G43V)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302751	NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)	DPAGT1, LOC126861360 (C42Y)	Single nucleotide variant (missense variant)	DPAGT1-congenital disorder of glycosylation +4 more	GUncertain significance
Select item 302752	NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	LOC126861360, DPAGT1	Single nucleotide variant (synonymous variant)	DPAGT1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 877295	NM_001382.4(DPAGT1):c.-39C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302753	NM_001382.4(DPAGT1):c.-46C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 877296	NM_001382.4(DPAGT1):c.-76G>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302754	NM_001382.4(DPAGT1):c.-152C>T	DPAGT1, LOC126861360	Single nucleotide variant (5 prime UTR variant)	DPAGT1-congenital disorder of glycosylation	GUncertain significance
Select item 302755	NM_001382.3(DPAGT1):c.-265C>A	DPAGT1, LOC126861360	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 302756	NM_001382.3(DPAGT1):c.-300C>T	DPAGT1, LOC126861360	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 302757	NM_001382.3(DPAGT1):c.-349T>C	DPAGT1, LOC126861360	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38