C0268126[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901048	NM_000026.2(ADSL):c.-64C>A	ADSL	Single nucleotide variant	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 341655	NM_000026.4(ADSL):c.-35G>T	ADSL	Single nucleotide variant (5 prime UTR variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 901049	NM_000026.4(ADSL):c.-29G>C	ADSL	Single nucleotide variant (5 prime UTR variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 128276	NM_000026.4(ADSL):c.124C>T (p.Leu42=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 136307	NM_000026.4(ADSL):c.216C>T (p.Ile72=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 195007	NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	ADSL (R83C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136308	NM_000026.4(ADSL):c.357+6C>T	ADSL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136309	NM_000026.4(ADSL):c.357+7G>A	ADSL	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128277	NM_000026.4(ADSL):c.358-4G>A	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency +2 more	GBenign
Select item 136311	NM_000026.4(ADSL):c.363G>A (p.Leu121=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 236554	NM_000026.4(ADSL):c.403-4G>A	ADSL	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128278	NM_000026.4(ADSL):c.440A>T (p.Lys147Met)	ADSL (K147M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 903534	NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)	ADSL (L129P +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 283531	NM_000026.4(ADSL):c.579G>C (p.Leu193=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	Adenylosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 903535	NM_000026.4(ADSL):c.702-3T>A	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 341656	NM_000026.4(ADSL):c.763C>T (p.Leu255=)	ADSL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 341657	NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)	ADSL (R270C +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 903536	NM_000026.4(ADSL):c.872C>T (p.Ala291Val)	ADSL (A227V +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 903537	NM_000026.4(ADSL):c.1011-9G>C	ADSL	Single nucleotide variant (intron variant)	Adenylosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 341658	NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)	ADSL (I369T +1 more)	Single nucleotide variant (missense variant +1 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 204796	NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	ADSL (R396H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 341659	NM_000026.4(ADSL):c.1200T>C (p.His400=)	ADSL	Single nucleotide variant (synonymous variant +2 more)	Adenylosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 899934	NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)	ADSL (G418E +1 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 341660	NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)	ADSL (G419V +1 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2464	NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	ADSL (D422Y +1 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 2462	NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	ADSL (R426H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 899935	NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)	ADSL (R388C +1 more)	Single nucleotide variant (missense variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 341662	NM_000026.4(ADSL):c.*45A>T	ADSL	Single nucleotide variant (3 prime UTR variant +2 more)	Adenylosuccinate lyase deficiency	GUncertain significance

ClinVar

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Items: 28