"ITMI"[submitter] AND "JAK3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134579	NM_000215.4(JAK3):c.3268G>A (p.Ala1090Thr)	JAK3 (A1090T)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign FDA Recognized database
Select item 135549	NM_000215.4(JAK3):c.3207+73G>A	JAK3	Single nucleotide variant (intron 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 134574	NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys)	JAK3 (R775C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance FDA Recognized database
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 134572	NM_000215.4(JAK3):c.2152G>C (p.Val718Leu)	JAK3 (V718L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GConflicting classifications of pathogenicity
Select item 134571	NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe)	JAK3 (I688F)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	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 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 134566	NM_000215.4(JAK3):c.1561C>G (p.Leu521Val)	JAK3 (L521V)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 135550	NM_000215.4(JAK3):c.1441+262C>A	JAK3	Single nucleotide variant (intron variant)	not specified	Gnot provided
Select item 134565	NM_000215.4(JAK3):c.1352G>A (p.Arg451Gln)	JAK3 (R451Q)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
Select item 134586	NM_000215.4(JAK3):c.1187C>T (p.Pro396Leu)	JAK3 (P396L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GBenign
Select item 134584	NM_000215.4(JAK3):c.1142C>A (p.Thr381Asn)	JAK3 (T381N)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
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 134582	NM_000215.4(JAK3):c.843G>C (p.Trp281Cys)	JAK3 (W281C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
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 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 134581	NM_000215.4(JAK3):c.381T>C (p.Ala127=)	JAK3	Single nucleotide variant (synonymous variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benign
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 134577	NM_000215.4(JAK3):c.58T>A (p.Ser20Thr)	JAK3 (S20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 134575	NM_000215.4(JAK3):c.23C>T (p.Thr8Met)	JAK3 (T8M)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance

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Items: 25