"Illumina Laboratory Services, Illumina"[submitter] AND "JAK2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367116	NM_004972.4(JAK2):c.-138C>T	JAK2, LOC130001497	Single nucleotide variant (5 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367131	NM_004972.4(JAK2):c.2762-10_2762-9del	INSL6, JAK2	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367139	NM_004972.4(JAK2):c.*91TAT[1]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367151	NM_004972.4(JAK2):c.1288_1289insGT	INSL6, JAK2	Insertion (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367153	NM_004972.4(JAK2):c.*1291GT[23]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367154	NM_004972.4(JAK2):c.*1291GT[19]	INSL6, JAK2	Microsatellite (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367157	NM_004972.4(JAK2):c.*1337T>C	INSL6, JAK2	Single nucleotide variant (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 367159	NM_004972.4(JAK2):c.1388_1392dup	INSL6, JAK2	Duplication (3 prime UTR variant +1 more)	Budd-Chiari syndrome	GUncertain significance
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic

ClinVar