"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321438	NM_000215.4(JAK3):c.3281del (p.Gln1094fs)	JAK3 (Q1094fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 495735	NM_000215.4(JAK3):c.3253C>T (p.Arg1085Trp)	JAK3 (R1085W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 36421	NM_000215.4(JAK3):c.3096+18A>G	JAK3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1705246	NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)	JAK3 (S1029fs)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1878321	NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)	JAK3 (R920fs)	Microsatellite (frameshift variant)	Severe combined immunodeficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 495737	NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs)	JAK3 (R895fs)	Deletion (frameshift variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 36419	NM_000215.4(JAK3):c.2625C>T (p.Leu875=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 1063395	NM_000215.4(JAK3):c.2350+6C>T	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 36418	NM_000215.4(JAK3):c.2259C>T (p.Ala753=)	JAK3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2577241	NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)	JAK3 (T714M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GPathogenic
Select item 328508	NM_000215.4(JAK3):c.1929G>A (p.Leu643=)	JAK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2581273	NM_000215.4(JAK3):c.1915-11G>A	JAK3	Single nucleotide variant (intron variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 632862	NM_000215.4(JAK3):c.1915-30C>T	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 36417	NM_000215.4(JAK3):c.1890G>A (p.Gln630=)	JAK3	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency disease +1 more	GBenign/Likely benign
Select item 36416	NM_000215.4(JAK3):c.1767C>T (p.Gly589=)	JAK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 36415	NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)	JAK3 (R582W)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenic FDA Recognized database
Select item 137597	NM_000215.4(JAK3):c.1701+9A>G	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 376114	NM_000215.4(JAK3):c.1503G>T (p.Gln501His)	JAK3 (Q501H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 137596	NM_000215.4(JAK3):c.1442-5C>T	JAK3	Single nucleotide variant (intron variant)	JAK3-related condition +2 more	GBenign
Select item 81020	NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)	JAK3 (R451*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic FDA Recognized database
Select item 137601	NM_000215.4(JAK3):c.1142+13C>A	JAK3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 495736	NM_000215.4(JAK3):c.1073TCT[1] (p.Phe359del)	JAK3 (F359del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2506155	NM_000215.4(JAK3):c.874T>G (p.Phe292Val)	JAK3 (F292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 36423	NM_000215.4(JAK3):c.678_679del (p.Cys227fs)	JAK3	Deletion (frameshift variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic FDA Recognized database
Select item 36422	NM_000215.4(JAK3):c.452C>G (p.Pro151Arg)	JAK3 (P151R)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 36420	NM_000215.4(JAK3):c.308+16del	JAK3	Deletion (intron variant)	not specified +2 more	GBenign
Select item 1696103	NM_000215.4(JAK3):c.268G>A (p.Val90Met)	JAK3 (V90M)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency +2 more	GUncertain significance

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Items: 28