C2931004[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	DPAGT1-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 +1 more	GUncertain significance
Select item 302745	NM_001382.4(DPAGT1):c.*184G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria +3 more	GBenign
Select item 368940	NM_001382.4(DPAGT1):c.*159G>A	DPAGT1, HMBS	Single nucleotide variant (3 prime UTR variant)	Acute intermittent porphyria +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)	Congenital myasthenic syndrome 13 +2 more	GUncertain significance
Select item 93728	NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)	DPAGT1, HMBS (I393V)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 167007	NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)	DPAGT1, HMBS (F332V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302747	NM_001382.4(DPAGT1):c.918-4G>A	DPAGT1	Single nucleotide variant (intron variant)	DPAGT1-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
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-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
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)	DPAGT1-congenital disorder of glycosylation +1 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)	not provided +4 more	GUncertain significance
Select item 302752	NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)	DPAGT1, LOC126861360	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

ClinVar

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Items: 31