"ITK-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 352457	NM_005546.4(ITK):c.150G>A (p.Thr50=)	ITK	Single nucleotide variant (synonymous variant)	Lymphoproliferative syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 934494	NM_005546.4(ITK):c.287G>A (p.Arg96His)	ITK (R96H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 2726271	NM_005546.4(ITK):c.681G>A (p.Val227=)	ITK	Single nucleotide variant (synonymous variant)	ITK-related disorder +1 more	GLikely benign
Select item 3029882	NM_005546.4(ITK):c.714-9T>C	ITK	Single nucleotide variant (intron variant)	ITK-related disorder	GLikely benign
Select item 1694291	NM_005546.4(ITK):c.810A>G (p.Ala270=)	ITK	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 956536	NM_005546.4(ITK):c.940G>C (p.Asp314His)	ITK (D314H)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +1 more	GUncertain significance
Select item 3039689	NM_005546.4(ITK):c.1061-19CT[6]	ITK	Microsatellite (intron variant)	ITK-related disorder	GLikely benign
Select item 2631535	NM_005546.4(ITK):c.1061-1G>A	ITK	Single nucleotide variant (splice acceptor variant)	ITK-related disorder	GUncertain significance
Select item 2634589	NM_005546.4(ITK):c.1061G>A (p.Gly354Glu)	ITK (G354E)	Single nucleotide variant (missense variant)	ITK-related disorder	GUncertain significance
Select item 1093836	NM_005546.4(ITK):c.1449+7G>T	ITK	Single nucleotide variant (intron variant)	ITK-related disorder +1 more	GLikely benign
Select item 540355	NM_005546.4(ITK):c.1510A>T (p.Thr504Ser)	ITK (T504S)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1979045	NM_005546.4(ITK):c.1515-10C>T	ITK	Single nucleotide variant (intron variant)	Lymphoproliferative syndrome 1 +1 more	GLikely benign
Select item 352476	NM_005546.4(ITK):c.1741C>T (p.Arg581Trp)	ITK (R581W)	Single nucleotide variant (missense variant)	Lymphoproliferative syndrome 1 +3 more	GConflicting classifications of pathogenicity