C1832736[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 344344	NM_005787.6(ALG3):c.*152C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 899645	NM_005787.6(ALG3):c.*108T>C	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344345	NM_005787.6(ALG3):c.*65C>T	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 259884	NM_005787.6(ALG3):c.*50T>G	ALG3	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 166676	NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)	ALG3 (P424L +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 344346	NM_005787.6(ALG3):c.1156T>C (p.Leu386=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344347	NM_005787.6(ALG3):c.1146C>T (p.His382=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344348	NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)	ALG3 (V362I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 900788	NM_005787.6(ALG3):c.1077G>A (p.Gln359=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 900789	NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)	ALG3 (V339I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344349	NM_005787.6(ALG3):c.985C>T (p.Pro329Ser)	ALG3 (P329S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 900790	NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)	ALG3 (S276C +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 344350	NM_005787.6(ALG3):c.933-4C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 344351	NM_005787.6(ALG3):c.846G>A (p.Ala282=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344352	NM_005787.6(ALG3):c.845C>T (p.Ala282Val)	ALG3 (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 902453	NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)	ALG3 (R212C +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344353	NM_005787.6(ALG3):c.777C>T (p.Ser259=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 902454	NM_005787.6(ALG3):c.696C>T (p.Leu232=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 382025	NM_005787.6(ALG3):c.669C>T (p.Leu223=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GLikely benign
Select item 344354	NM_005787.6(ALG3):c.606-8C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 710692	NM_005787.6(ALG3):c.606-10C>T	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 344355	NM_005787.6(ALG3):c.591T>C (p.Gly197=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 344356	NM_005787.6(ALG3):c.578G>A (p.Arg193His)	ALG3 (R193H +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 903312	NM_005787.6(ALG3):c.544C>T (p.Leu182Phe)	ALG3 (L134F +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344357	NM_005787.6(ALG3):c.477C>T (p.Cys159=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 903313	NM_005787.6(ALG3):c.469A>G (p.Met157Val)	ALG3 (M157V +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 903314	NM_005787.6(ALG3):c.347G>T (p.Ser116Ile)	ALG3 (S116I +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344358	NM_005787.6(ALG3):c.319A>G (p.Ile107Val)	ALG3 (I107V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 903315	NM_005787.6(ALG3):c.304G>T (p.Ala102Ser)	ALG3 (A102S +1 more)	Single nucleotide variant (missense variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344359	NM_005787.6(ALG3):c.297-6T>C	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 899708	NM_005787.6(ALG3):c.296+7G>A	ALG3	Single nucleotide variant (intron variant)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344360	NM_005787.6(ALG3):c.222C>T (p.Tyr74=)	ALG3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899709	NM_005787.6(ALG3):c.66G>A (p.Lys22=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 344361	NM_005787.6(ALG3):c.51A>G (p.Ala17=)	ALG3	Single nucleotide variant (synonymous variant +2 more)	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 344362	NM_005787.6(ALG3):c.41C>T (p.Ala14Val)	ALG3 (A14V)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 344363	NM_005787.6(ALG3):c.19A>C (p.Lys7Gln)	ALG3 (K7Q)	Single nucleotide variant (missense variant +2 more)	ALG3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 344364	NM_005787.5(ALG3):c.-26G>C	ALG3	Single nucleotide variant (non-coding transcript variant +2 more)	ALG3-congenital disorder of glycosylation	GUncertain significance
Select item 899710	NM_005787.5(ALG3):c.-31G>A	ALG3	Single nucleotide variant (non-coding transcript variant +1 more)	ALG3-congenital disorder of glycosylation	GUncertain significance

ClinVar

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Items: 38