"GeneDx"[submitter] AND "JAK2"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 1248374	NM_004972.4(JAK2):c.-25-225G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723612	NM_004972.4(JAK2):c.181G>A (p.Glu61Lys)	INSL6, JAK2 (E61K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3368200	NM_004972.4(JAK2):c.289C>T (p.Pro97Ser)	INSL6, JAK2 (P97S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3372004	NM_004972.4(JAK2):c.344G>C (p.Arg115Thr)	INSL6, JAK2 (R115T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1295095	NM_004972.4(JAK2):c.350+174T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262106	NM_004972.4(JAK2):c.469-317G>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367122	NM_004972.4(JAK2):c.489C>T (p.His163=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 1246095	NM_004972.4(JAK2):c.614+79C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700754	NM_004972.4(JAK2):c.682C>T (p.Arg228Ter)	INSL6, JAK2 (R228* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1271881	NM_004972.4(JAK2):c.936+131C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283417	NM_004972.4(JAK2):c.937-235C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278799	NM_004972.4(JAK2):c.1056+249A>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 134563	NM_004972.4(JAK2):c.1177C>G (p.Leu393Val)	JAK2, INSL6 (L393V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1282261	NM_004972.4(JAK2):c.1215-223T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3365384	NM_004972.4(JAK2):c.1326+1G>T	INSL6, JAK2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1263900	NM_004972.4(JAK2):c.1327-267T>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240934	NM_004972.4(JAK2):c.1514-88G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280967	NM_004972.4(JAK2):c.1642-310C>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 376706	NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	JAK2, INSL6 (R564L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336051	NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser)	INSL6, JAK2 (G166S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3372394	NM_004972.4(JAK2):c.1721A>G (p.His574Arg)	INSL6, JAK2 (H169R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1239785	NM_004972.4(JAK2):c.1776+172T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247124	NM_004972.4(JAK2):c.1776+220G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1256675	NM_004972.4(JAK2):c.1929T>C (p.Asn643=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1181226	NM_004972.4(JAK2):c.1993-260G>C	JAK2, INSL6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179213	NM_004972.4(JAK2):c.1993-189T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2862680	NM_004972.4(JAK2):c.2390C>G (p.Ser797Cys)	INSL6, JAK2 (S648C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276498	NM_004972.4(JAK2):c.2434+227_2434+230del	INSL6, JAK2	Deletion (intron variant)	not provided	GBenign
Select item 1265506	NM_004972.4(JAK2):c.2435-140A>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367129	NM_004972.4(JAK2):c.2490G>A (p.Leu830=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2574849	NM_004972.4(JAK2):c.2508del (p.Phe836fs)	INSL6, JAK2 (F431fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1232539	NM_004972.4(JAK2):c.2571+245G>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2958894	NM_004972.4(JAK2):c.2599C>T (p.Arg867Trp)	INSL6, JAK2 (R462W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance OUncertain significance
Select item 1722803	NM_004972.4(JAK2):c.2776A>G (p.Lys926Glu)	JAK2, INSL6 (K521E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1287656	NM_004972.4(JAK2):c.2886+71G>A	INSL6, JAK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1273822	NM_004972.4(JAK2):c.3059+23A>T	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 151946	GRCh38/hg38 9p24.1(chr9:5116731-5216903)x4	INSL6, JAK2	Copy number gain	See cases	GUncertain significance
Select item 1224975	NM_004972.4(JAK2):c.3060-72A>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2058254	NM_004972.4(JAK2):c.3177G>A (p.Ala1059=)	INSL6, JAK2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GUncertain significance
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 1240578	NM_004972.4(JAK2):c.3291+96T>G	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 49