"PreventionGenetics, part of Exact Sciences"[submitter] AND "JAK1"[gen - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629421	NM_002227.4(JAK1):c.*3A>C	JAK1	Single nucleotide variant (3 prime UTR variant)	JAK1-related disorder	GUncertain significance
Select item 740564	NM_002227.4(JAK1):c.3378A>G (p.Gln1126=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 773145	NM_002227.4(JAK1):c.3093T>C (p.Asp1031=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2071481	NM_002227.4(JAK1):c.3027C>T (p.Val1009=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder +1 more	GLikely benign
Select item 1002308	NM_002227.4(JAK1):c.2841C>T (p.Asp947=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1575585	NM_002227.4(JAK1):c.2632A>G (p.Ile878Val)	JAK1 (I877V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1593654	NM_002227.4(JAK1):c.2629A>C (p.Arg877=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder +1 more	GLikely benign
Select item 1567341	NM_002227.4(JAK1):c.2555-5G>T	JAK1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 134544	NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser)	JAK1 (N833S +1 more)	Single nucleotide variant (missense variant)	JAK1-related disorder +1 more	GLikely benign
Select item 1593839	NM_002227.4(JAK1):c.2394G>A (p.Thr798=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder +1 more	GBenign/Likely benign
Select item 2148342	NM_002227.4(JAK1):c.2251+9C>T	JAK1	Single nucleotide variant (intron variant)	JAK1-related disorder +1 more	GLikely benign
Select item 1166648	NM_002227.4(JAK1):c.2097C>G (p.Ala699=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1169783	NM_002227.4(JAK1):c.2049C>T (p.Ser683=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3053857	NM_002227.4(JAK1):c.2042G>A (p.Arg681Gln)	JAK1 (R680Q +1 more)	Single nucleotide variant (missense variant)	JAK1-related disorder	GUncertain significance
Select item 1169784	NM_002227.4(JAK1):c.1977C>T (p.Arg659=)	JAK1, LOC126805749	Single nucleotide variant (synonymous variant)	JAK1-related disorder +1 more	GBenign
Select item 2629087	NM_002227.4(JAK1):c.1899+4A>G	JAK1, LOC126805749	Single nucleotide variant (intron variant)	JAK1-related disorder	GUncertain significance
Select item 1166649	NM_002227.4(JAK1):c.1590C>T (p.Ile530=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1122301	NM_002227.4(JAK1):c.1357T>C (p.Leu453=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1165448	NM_002227.4(JAK1):c.1335-7C>G	JAK1	Single nucleotide variant (intron variant)	JAK1-related disorder +1 more	GBenign/Likely benign
Select item 1903803	NM_002227.4(JAK1):c.1158G>A (p.Lys386=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder +1 more	GLikely benign
Select item 2635656	NM_002227.4(JAK1):c.1079G>A (p.Arg360Gln)	JAK1 (R360Q)	Single nucleotide variant (missense variant)	JAK1-related disorder	GUncertain significance
Select item 1169118	NM_002227.4(JAK1):c.991-4T>C	JAK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 711961	NM_002227.4(JAK1):c.647+7C>T	JAK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166650	NM_002227.4(JAK1):c.546A>G (p.Gly182=)	JAK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3029804	NM_002227.4(JAK1):c.354A>G (p.Gly118=)	JAK1	Single nucleotide variant (synonymous variant)	JAK1-related disorder	GLikely benign
Select item 1506099	NM_002227.4(JAK1):c.351T>C (p.His117=)	JAK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1368994	NM_002227.4(JAK1):c.247G>A (p.Glu83Lys)	JAK1 (E83K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629033	NM_002227.4(JAK1):c.242A>G (p.Tyr81Cys)	JAK1 (Y81C)	Single nucleotide variant (missense variant)	JAK1-related disorder	GUncertain significance

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Items: 28