"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1084872	NM_005546.4(ITK):c.33C>A (p.Leu11=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 352456	NM_005546.4(ITK):c.139-6C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 352459	NM_005546.4(ITK):c.244-8G>A	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GBenign/Likely benign
Select item 352460	NM_005546.4(ITK):c.287G>C (p.Arg96Pro)	ITK (R96P)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 1694289	NM_005546.4(ITK):c.439G>A (p.Asp147Asn)	ITK (D147N)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694290	NM_005546.4(ITK):c.559C>T (p.Pro187Ser)	ITK (P187S)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 352464	NM_005546.4(ITK):c.578G>A (p.Arg193Gln)	ITK (R193Q)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GBenign/Likely benign
Select item 858563	NM_005546.4(ITK):c.768+3A>G	ITK	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 352467	NM_005546.4(ITK):c.769-10A>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GBenign
Select item 1694291	NM_005546.4(ITK):c.810A>G (p.Ala270=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 352473	NM_005546.4(ITK):c.1276C>T (p.Leu426=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 540360	NM_005546.4(ITK):c.1398G>T (p.Val466=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GBenign
Select item 352474	NM_005546.4(ITK):c.1455C>T (p.Ala485=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1502856	NM_005546.4(ITK):c.1588T>G (p.Phe530Val)	ITK (F530V)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 352476	NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)	ITK (R581W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522219	NM_005546.4(ITK):c.1759G>A (p.Val587Ile)	ITK (V587I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 732883	NM_005546.4(ITK):c.1792-4C>T	ITK	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity