C1833275[trait identifier] AND "ClinGen Severe Combined Immunodeficien - ClinVar

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Items: 28

	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	GBenignFDA Recognized database
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 benignFDA Recognized database
Select item 2054022	NM_000215.4(JAK3):c.2680+89G>A	JAK3	Single nucleotide variant (intron variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenicFDA Recognized database
Select item 372390	NM_000215.4(JAK3):c.2636A>G (p.His879Arg)	JAK3 (H879R)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benignFDA Recognized database
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	GBenignFDA Recognized database
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 significanceFDA Recognized database
Select item 933853	NM_000215.4(JAK3):c.2317G>A (p.Val773Ile)	JAK3 (V773I)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
Select item 1459771	NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)	JAK3 (R771*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenicFDA Recognized database
Select item 863482	NM_000215.4(JAK3):c.2291C>T (p.Pro764Leu)	JAK3 (P764L)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA 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	GBenignFDA Recognized database
Select item 2048620	NM_000215.4(JAK3):c.1915-1G>A	JAK3	Single nucleotide variant (splice acceptor variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
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	GBenignFDA Recognized database
Select item 644288	NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)	JAK3 (R613*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenicFDA Recognized database
Select item 624608	NM_000215.4(JAK3):c.1796T>G (p.Val599Gly)	JAK3 (V599G)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
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 pathogenicFDA Recognized database
Select item 9363	NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)	JAK3 (C565*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenicFDA Recognized database
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	GPathogenicFDA Recognized database
Select item 9364	NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)	JAK3 (R445*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GPathogenicFDA Recognized database
Select item 733403	NM_000215.4(JAK3):c.938G>A (p.Gly313Glu)	JAK3 (G313E)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benignFDA Recognized database
Select item 891294	NM_000215.4(JAK3):c.896T>C (p.Val299Ala)	JAK3 (V299A)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
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	GPathogenicFDA Recognized database
Select item 328518	NM_000215.4(JAK3):c.649G>A (p.Val217Met)	JAK3 (V217M)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benignFDA 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	GBenignFDA 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	GBenignFDA Recognized database
Select item 532747	NM_000215.4(JAK3):c.362G>A (p.Arg121His)	JAK3 (R121H)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benignFDA Recognized database
Select item 381576	NM_000215.4(JAK3):c.349C>T (p.Arg117Cys)	JAK3 (R117C)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significanceFDA Recognized database
Select item 252471	NM_000215.4(JAK3):c.187A>G (p.Ile63Val)	JAK3 (I63V)	Single nucleotide variant (missense variant)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely benignFDA Recognized database
Select item 1999662	NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)	JAK3 (K59*)	Single nucleotide variant (nonsense)	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GLikely pathogenicFDA Recognized database

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Items: 28