Unique variants in the JAK2 gene

Information The variants shown are described using the NM_004972.3 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-4781635_*3072208del r.0? p.0? - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 11 c.? r.0? p.0? - pathogenic g.? - - t(9;22)(p24;q11) PTCH1_000000 1 more item PubMed: Cirmena 2008 - - Somatic - - - - - Johan den Dunnen
-?/. 1 - c.132C>T r.(?) p.(Tyr44=) - likely benign g.5022119C>T g.5022119C>T JAK2(NM_004972.3):c.132C>T (p.Y44=) - JAK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.137C>A r.(?) p.(Ser46Tyr) - likely benign g.5022124C>A g.5022124C>A JAK2(NM_001322194.1):c.137C>A (p.S46Y) - JAK2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.143G>A r.(?) p.(Gly48Glu) - likely benign g.5022130G>A g.5022130G>A JAK2(NM_001322194.1):c.143G>A (p.G48E) - JAK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.217A>G r.(?) p.(Lys73Glu) - VUS g.5022204A>G - JAK2(NM_004972.3):c.217A>G (p.K73E) - JAK2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.337C>G r.(?) p.(Leu113Val) - likely benign g.5029893C>G g.5029893C>G JAK2(NM_001322194.1):c.337C>G (p.L113V) - JAK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.380G>A r.(?) p.(Gly127Asp) - benign g.5044432G>A - JAK2(NM_004972.3):c.380G>A (p.G127D) - JAK2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.489C>T r.(?) p.(His163=) - benign g.5050706C>T g.5050706C>T JAK2(NM_004972.3):c.489C>T (p.H163=) - JAK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.949T>C r.(?) p.(Tyr317His) - VUS g.5055681T>C g.5055681T>C JAK2(NM_001322194.1):c.949T>C (p.Y317H) - JAK2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.1174G>A r.(?) p.(Val392Met) - likely benign, VUS g.5065000G>A g.5065000G>A JAK2(NM_001322194.1):c.1174G>A (p.V392M) - JAK2_000011 no interpretation available; 6 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs200018153 CLASSIFICATION record, Germline - 6/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.1177C>G r.(?) p.(Leu393Val) - likely benign g.5065003C>G - JAK2(NM_004972.3):c.1177C>G (p.L393V) - JAK2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1179T>G r.(?) p.(Leu393=) - likely benign g.5065005T>G - JAK2(NM_004972.3):c.1179T>G (p.L393=) - JAK2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1220A>T r.(?) p.(Asp407Val) - VUS g.5066683A>T g.5066683A>T JAK2(NM_001322194.1):c.1220A>T (p.D407V) - JAK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1356T>C r.(?) p.(Cys452=) - likely benign g.5069051T>C g.5069051T>C JAK2(NM_001322194.1):c.1356T>C (p.C452=) - JAK2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1450G>C r.(?) p.(Glu484Gln) - VUS g.5069145G>C g.5069145G>C JAK2(NM_001322194.1):c.1450G>C (p.E484Q) - JAK2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1458T>G r.(?) p.(Val486=) - benign g.5069153T>G g.5069153T>G JAK2(NM_001322194.1):c.1458T>G (p.V486=) - JAK2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1513+8A>G r.(=) p.(=) - likely benign g.5069216A>G g.5069216A>G JAK2(NM_004972.3):c.1513+8A>G (p.(=)) - JAK2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1624_1629del r.(?) p.(Asn542_Glu543del) - likely pathogenic g.5070035_5070040del g.5070035_5070040del - - JAK2_000030 - PubMed: Suessmuth 2009 - - Somatic - - - - - Jelena Čalyševa
-?/. 1 - c.1641+6T>C r.(=) p.(=) - likely benign g.5070058T>C g.5070058T>C JAK2(NM_001322194.1):c.1641+6T>C - JAK2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1686C>T r.(?) p.(Gly562=) - likely benign g.5072536C>T g.5072536C>T JAK2(NM_001322194.1):c.1686C>T (p.G562=) - JAK2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1710C>T r.(?) p.(Tyr570=) - likely benign g.5072560C>T g.5072560C>T JAK2(NM_001322194.1):c.1710C>T (p.Y570=) - JAK2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1711G>A r.(?) p.(Gly571Ser) - likely benign, VUS g.5072561G>A g.5072561G>A JAK2(NM_001322194.1):c.1711G>A (p.G571S), JAK2(NM_004972.3):c.1711G>A (p.G571S, p.(Gly571Ser)) - JAK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1777-6C>T r.(=) p.(=) - likely benign g.5073692C>T g.5073692C>T JAK2(NM_004972.3):c.1777-6C>T (p.(=)) - JAK2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1777-5C>T r.spl? p.? - likely benign g.5073693C>T g.5073693C>T JAK2(NM_004972.3):c.1777-5C>T (p.?) - JAK2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1777-2A>T r.spl? p.? - likely benign g.5073696A>T g.5073696A>T JAK2(NM_004972.3):c.1777-2A>T (p.?) - JAK2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 1 14 c.1849G>A r.(?) p.(Val617Ile) - pathogenic g.5073770G>A g.5073770G>A G>A (V617I) - JAK2_000001 - PubMed: Mead 2012 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 2 - c.1849G>T r.(?) p.(Val617Phe) - pathogenic g.5073770G>T g.5073770G>T - - JAK2_000020 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs77375493 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.1993-16C>T r.(=) p.(=) - likely benign g.5078290C>T - JAK2(NM_001322194.1):c.1993-16C>T - JAK2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2132-15C>T r.(=) p.(=) - likely benign g.5080214C>T - JAK2(NM_001322194.1):c.2132-15C>T - JAK2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.2183A>C r.(?) p.(Lys728Thr) - VUS g.5080280A>C g.5080280A>C JAK2(NM_001322194.1):c.2183A>C (p.K728T) - JAK2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2460C>T r.(?) p.(Asp820=) - likely benign g.5081750C>T g.5081750C>T JAK2(NM_001322194.1):c.2460C>T (p.D820=) - JAK2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2488C>T r.(?) p.(Leu830=) - likely benign g.5081778C>T g.5081778C>T JAK2(NM_001322194.1):c.2488C>T (p.L830=), JAK2(NM_004972.3):c.2488C>T (p.L830=) - JAK2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.2490G>A r.(?) p.(Leu830=) - benign g.5081780G>A g.5081780G>A JAK2(NM_004972.3):c.2490G>A (p.L830=) - JAK2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2624C>A r.(?) p.(Thr875Asn) - pathogenic g.5089726C>A - - - JAK2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2767C>T r.(?) p.(Arg923Cys) - VUS g.5090451C>T g.5090451C>T JAK2(NM_004972.3):c.2767C>T (p.R923C) - JAK2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.2768G>A r.(?) p.(Arg923His) - VUS g.5090452G>A g.5090452G>A JAK2(NM_004972.3):c.2768G>A (p.(Arg923His)) - JAK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2850C>T r.(?) p.(His950=) - likely benign g.5090534C>T g.5090534C>T JAK2(NM_001322194.1):c.2850C>T (p.H950=) - JAK2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2882G>C r.(?) p.(Cys961Ser) - VUS g.5090566G>C g.5090566G>C - - JAK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2893G>A r.(?) p.(Glu965Lys) - VUS g.5090745G>A - JAK2(NM_001322194.2):c.2893G>A (p.E965K) - JAK2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3060-9T>C r.(=) p.(=) - likely benign g.5122995T>C g.5122995T>C JAK2(NM_001322194.1):c.3060-9T>C - JAK2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3130C>T r.(?) p.(Leu1044=) - likely benign g.5123074C>T g.5123074C>T JAK2(NM_001322194.1):c.3130C>T (p.L1044=) - JAK2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3187C>T r.(?) p.(Arg1063Cys) - VUS g.5126342C>T g.5126342C>T JAK2(NM_004972.3):c.3187C>T (p.R1063C) - JAK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3188G>A r.(?) p.(Arg1063His) - VUS g.5126343G>A - JAK2(NM_004972.3):c.3188G>A (p.R1063H) - JAK2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.3291+6A>C r.(=) p.(=) - likely benign g.5126452A>C g.5126452A>C JAK2(NM_001322194.1):c.3291+6A>C - JAK2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3323A>G r.(?) p.(Asn1108Ser) - likely benign g.5126715A>G g.5126715A>G JAK2(NM_001322194.1):c.3323A>G (p.N1108S) - JAK2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.3334C>T r.(?) p.(Gln1112*) ACMG pathogenic g.5126726C>T - - - JAK2_000042 - PubMed: Mendonca 2021 - - Somatic - 0.088 - - - Vanessa Mendonça
?/. 1 - c.3355C>G r.(?) p.(Leu1119Val) - VUS g.5126747C>G g.5126747C>G JAK2(NM_001322194.1):c.3355C>G (p.L1119V) - JAK2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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