"PreventionGenetics, part of Exact Sciences"[submitter] AND "JAK3"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3050786	NM_000215.4(JAK3):c.*10G>A	JAK3	Single nucleotide variant (3 prime UTR variant)	JAK3-related disorder	GLikely benign
Select item 1634460	NM_000215.4(JAK3):c.2978+9C>A	JAK3	Single nucleotide variant (intron variant)	JAK3-related disorder +1 more	GLikely benign
Select item 418267	NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)	JAK3 (R925S)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign FDA Recognized database
Select item 565744	NM_000215.4(JAK3):c.2756C>T (p.Ala919Val)	JAK3 (A919V)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1105284	NM_000215.4(JAK3):c.2673T>C (p.Tyr891=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder +1 more	GLikely benign
Select item 3051504	NM_000215.4(JAK3):c.2454G>A (p.Glu818=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder	GLikely benign
Select item 3029100	NM_000215.4(JAK3):c.2422C>T (p.Leu808Phe)	JAK3 (L808F)	Single nucleotide variant (missense variant)	JAK3-related disorder	GLikely benign
Select item 1139973	NM_000215.4(JAK3):c.2412T>C (p.Asn804=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder +1 more	GLikely benign
Select item 2637361	NM_000215.4(JAK3):c.2372C>G (p.Pro791Arg)	JAK3 (P791R)	Single nucleotide variant (missense variant)	JAK3-related disorder	GUncertain significance
Select item 134573	NM_000215.4(JAK3):c.2164G>A (p.Val722Ile)	JAK3 (V722I)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 1515055	NM_000215.4(JAK3):c.2134G>A (p.Gly712Ser)	JAK3 (G712S)	Single nucleotide variant (missense variant)	JAK3-related disorder +1 more	GUncertain significance
Select item 328506	NM_000215.4(JAK3):c.2097G>A (p.Ala699=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 134569	NM_000215.4(JAK3):c.1843C>T (p.Arg615Cys)	JAK3 (R615C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 328513	NM_000215.4(JAK3):c.1653A>G (p.Thr551=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 137596	NM_000215.4(JAK3):c.1442-5C>T	JAK3	Single nucleotide variant (intron variant)	JAK3-related disorder +2 more	GBenign
Select item 432225	NM_000215.4(JAK3):c.431A>T (p.Asp144Val)	JAK3 (D144V)	Single nucleotide variant (missense variant)	JAK3-related disorder +1 more	GLikely pathogenic
Select item 134580	NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)	JAK3 (P132T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 137600	NM_000215.4(JAK3):c.297G>C (p.Leu99=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder +2 more	GBenign
Select item 2957736	NM_000215.4(JAK3):c.97C>A (p.Arg33=)	JAK3	Single nucleotide variant (synonymous variant)	JAK3-related disorder +1 more	GLikely benign