Related gene-specific medical variations for Gene (Select 3718) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248439	NC_000019.9:g.(?_17943332)_(17949808_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248438	NC_000019.9:g.(?_17951019)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248437	NC_000019.9:g.(?_17952429)_(17955226_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3248436	NC_000019.9:g.(?_17948721)_(17950492_?)del	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 3068186	NM_000215.4(JAK3):c.3055G>A (p.Glu1019Lys)	JAK3 (E1019K)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenic
Select item 3068049	NM_000215.4(JAK3):c.658G>C (p.Ala220Pro)	JAK3 (A220P)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 3064100	NM_000215.4(JAK3):c.2609G>T (p.Arg870Leu)	JAK3 (R870L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 1323133	NM_000215.4(JAK3):c.1254+2T>A	JAK3	Single nucleotide variant (splice donor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic
Select item 636398	NM_000215.4(JAK3):c.1152T>A (p.Phe384Leu)	JAK3 (F384L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624607	NM_000215.4(JAK3):c.2125T>A (p.Trp709Arg)	JAK3 (W709R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 523048	NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu)	JAK3 (P1086L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	GUncertain significance
Select item 376714	NM_000215.4(JAK3):c.2143G>A (p.Val715Ile)	JAK3 (V715I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease	GLikely pathogenic
Select item 376116	NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)	JAK3 (I87T)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia +1 more	GLikely pathogenic
Select item 376115	NM_000215.4(JAK3):c.1503G>C (p.Gln501His)	JAK3 (Q501H)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia	GLikely pathogenic
Select item 376037	NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)	JAK3 (A572V)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia +1 more	GLikely pathogenic
Select item 135550	NM_000215.4(JAK3):c.1441+262C>A	JAK3	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 135549	NM_000215.4(JAK3):c.3207+73G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 134585	NM_000215.4(JAK3):c.991G>A (p.Glu331Lys)	JAK3 (E331K)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134583	NM_000215.4(JAK3):c.851G>A (p.Gly284Glu)	JAK3 (G284E)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134578	NM_000215.4(JAK3):c.2731C>G (p.Arg911Gly)	JAK3 (R911G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134576	NM_000215.4(JAK3):c.94G>A (p.Ala32Thr)	JAK3 (A32T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134570	NM_000215.4(JAK3):c.1830G>A (p.Met610Ile)	JAK3 (M610I)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134568	NM_000215.4(JAK3):c.1739C>T (p.Ser580Leu)	JAK3 (S580L)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134567	NM_000215.4(JAK3):c.1610G>A (p.Arg537Gln)	JAK3 (R537Q)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 9361	JAK3, 151-BP DEL	JAK3	Deletion	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenic

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Items: 25