ClinVar for MedGen (Select 1750270) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582335	NM_002227.4(JAK1):c.439A>G (p.Thr147Ala)	JAK1 (T147A)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GUncertain significance
Select item 2432943	NM_002227.4(JAK1):c.410G>T (p.Gly137Val)	JAK1 (G137V)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GUncertain significance
Select item 2432942	NM_002227.4(JAK1):c.1567A>C (p.Met523Leu)	JAK1 (M522L +1 more)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GUncertain significance
Select item 1703729	NM_002227.4(JAK1):c.2198C>T (p.Pro733Leu)	JAK1 (P732L)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GUncertain significance
Select item 1703485	NM_002227.4(JAK1):c.[2198C>T;2494C>T]	JAK1 (P732L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703484	NM_002227.4(JAK1):c.1786C>G (p.His596Asp)	LOC126805749, JAK1 (H595D)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GPathogenic
Select item 1478065	NM_002227.4(JAK1):c.426G>T (p.Lys142Asn)	JAK1 (K142N)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia +1 more	GUncertain significance
Select item 1434963	NM_002227.4(JAK1):c.145C>T (p.Arg49Trp)	JAK1, LOC129930680 (R49W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342489	NM_001321852.2(JAK1):c.-78+60494G>T	JAK1	Single nucleotide variant (intron variant)	Autoinflammation, immune dysregulation, and eosinophilia	GUncertain significance
Select item 977461	NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile)	JAK1 (S703I +1 more)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia	GPathogenic
Select item 225075	NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp)	JAK1, LOC126805749 (A634D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 134549	NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp)	JAK1 (R360W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 134542	NM_002227.4(JAK1):c.1951G>A (p.Val651Met)	JAK1, LOC126805749 (V651M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 134541	NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys)	JAK1 (R506C +1 more)	Single nucleotide variant (missense variant)	Autoinflammation, immune dysregulation, and eosinophilia +1 more	GConflicting classifications of pathogenicity