All variants in the STAT5B gene

A Growth Genetics Consortium gene variant database.
Information The variants shown are described using the NM_012448.3 transcript reference sequence.

121 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Enzyme activity     

Protein level     

mRNA level     

CpG     

IDbase Accession Number     

VariO/DNA     

VariO/RNA     

VariO/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     
?/. - c.62T>C r.(?) p.(Leu21Ser) - - - - - - - - - - VUS g.40384084A>G - STAT5B(NM_012448.3):c.62T>C (p.(Leu21Ser)) - STAT5B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.62T>C r.(?) p.(Leu21Ser) - - - - - - - - - - VUS g.40384084A>G - STAT5B(NM_012448.3):c.62T>C (p.(Leu21Ser)) - STAT5B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.72G>A r.(?) p.(Gln24=) - - - - - - - - - - likely benign g.40384074C>T g.42232056C>T STAT5B(NM_012448.3):c.72G>A (p.Q24=) - STAT5B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.93G>T r.(?) p.(=) - - - - - - - - - - likely benign g.40384053C>A - STAT5B(NM_012448.3):c.93G>T (p.(Arg31=)) - STAT5B_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.99T>C r.(?) p.(=) - - - - - - - - - - likely benign g.40384047A>G - STAT5B(NM_012448.3):c.99T>C (p.(Tyr33=)) - STAT5B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.129-8dup r.(=) p.(=) - - - - - - - - - - likely benign g.40379717dup - STAT5B(NM_012448.3):c.129-8dup (p.(=)) - STAT5B_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.143T>A r.(?) p.(Leu48His) - - - - - - - - - - VUS g.40379689A>T - STAT5B(NM_012448.3):c.143T>A (p.(Leu48His)) - STAT5B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.171C>T r.(?) p.(Ala57=) - - - - - - - - - - likely benign g.40379661G>A - STAT5B(NM_012448.3):c.171C>T (p.(=)) - STAT5B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.228G>C r.(?) p.(Val76=) - - - - - - - - - - likely benign g.40379604C>G - STAT5B(NM_012448.3):c.228G>C (p.V76=) - STAT5B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.247C>G r.(?) p.(Leu83Val) - - - - - - - - - - VUS g.40379585G>C - STAT5B(NM_012448.3):c.247C>G (p.(Leu83Val)) - STAT5B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.247C>T r.(?) p.(Leu83=) - - - - - - - - - - likely benign g.40379585G>A g.42227567G>A STAT5B(NM_012448.3):c.247C>T (p.(Leu83=)) - STAT5B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.280C>T r.(?) p.(Leu94Phe) - - - - - - - - - - likely benign g.40379552G>A - STAT5B(NM_012448.3):c.280C>T (p.(Leu94Phe)) - STAT5B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.285+12C>T r.(=) p.(=) - - - - - - - - - - likely benign g.40379535G>A g.42227517G>A STAT5B(NM_012448.3):c.285+12C>T (p.(=)) - STAT5B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.298C>T r.(?) p.(Arg100Cys) - - - - - - - - - - VUS g.40376874G>A g.42224856G>A STAT5B(NM_012448.3):c.298C>T (p.R100C) - STAT5B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.320G>A r.(?) p.(Arg107His) - - - - - - - - - - VUS g.40376852C>T - STAT5B(NM_012448.3):c.320G>A (p.(Arg107His)) - STAT5B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.357G>C r.(?) p.(Leu119Phe) - - - - - - - - - - likely benign g.40376815C>G - STAT5B(NM_012448.3):c.357G>C (p.(Leu119Phe)) - STAT5B_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.375+17G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40376780C>T g.42224762C>T STAT5B(NM_012448.3):c.375+17G>A (p.(=)) - STAT5B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.375+17G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40376780C>T - STAT5B(NM_012448.3):c.375+17G>A (p.(=)) - STAT5B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.376-15C>G r.(=) p.(=) - - - - - - - - - - benign g.40375589G>C g.42223571G>C STAT5B(NM_012448.3):c.376-15C>G (p.(=)) - STAT5B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.376-15C>G r.(=) p.(=) - - - - - - - - - - likely benign g.40375589G>C g.42223571G>C STAT5B(NM_012448.3):c.376-15C>G (p.(=)) - STAT5B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.416A>C r.(?) p.(Gln139Pro) - - - - - - - - - - VUS g.40375534T>G - STAT5B(NM_012448.3):c.416A>C (p.(Gln139Pro)) - STAT5B_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.424_427del r.(?) p.(Leu142Argfs*20) - - - - - - - - - - pathogenic (recessive) g.40375524_40375527del g.42223506_42223509del 424_427delCTCC - STAT5B_000035 - PubMed: Pugliese-Pires 2010 - - Germline yes - - - - Johan den Dunnen
-?/. - c.429G>C r.(?) p.(Gln143His) - - - - - - - - - - likely benign g.40375521C>G - STAT5B(NM_012448.3):c.429G>C (p.(Gln143His)) - STAT5B_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.454C>T r.454c>u p.Arg152* - - - - - S0004 DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) - pathogenic (recessive) g.40375496G>A g.42223478G>A R152X - STAT5B_000003 - PubMed: Bernasconi 2006 - - Germline - - - - - Johan den Dunnen
-?/. - c.474A>G r.(?) p.(=) - - - - - - - - - - likely benign g.40375476T>C - STAT5B(NM_012448.3):c.474A>G (p.(Thr158=)) - STAT5B_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.550+8G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40375392C>T - STAT5B(NM_012448.3):c.550+8G>A (p.(=)) - STAT5B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.550+8G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40375392C>T - STAT5B(NM_012448.3):c.550+8G>A (p.(=)) - STAT5B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.551-5T>C r.spl? p.? - - - - - - - - - - likely benign g.40371865A>G g.42219847A>G STAT5B(NM_012448.3):c.551-5T>C (p.?) - STAT5B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.551-5T>C r.spl? p.? - - - - - - - - - - likely benign g.40371865A>G g.42219847A>G STAT5B(NM_012448.3):c.551-5T>C (p.?) - STAT5B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.589C>T r.(?) p.(Arg197Cys) - - - - - - - - - - VUS g.40371822G>A g.42219804G>A STAT5B(NM_012448.3):c.589C>T (p.(Arg197Cys)) - STAT5B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.637G>T r.(?) p.(Ala213Ser) - - - - - - - - - - likely benign g.40371774C>A - STAT5B(NM_012448.3):c.637G>T (p.(Ala213Ser)) - STAT5B_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.690C>T r.(?) p.(Ala230=) - - - - - - - - - - benign g.40371473G>A g.42219455G>A STAT5B(NM_012448.3):c.690C>T (p.(Ala230=)) - STAT5B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.715C>G r.(?) p.(Leu239Val) - - - - - - - - - - likely benign g.40371448G>C - STAT5B(NM_012448.3):c.715C>G (p.(Leu239Val)) - STAT5B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.739A>G r.(?) p.(Ile247Val) - - - - - - - - - - VUS g.40371424T>C - STAT5B(NM_012448.4):c.739A>G (p.I247V) - STAT5B_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.751_762del r.(?) p.(Glu251_Gln254del) - - - - - - - - - - VUS g.40371401_40371412del - STAT5B(NM_012448.3):c.751_762del (p.(Glu251_Gln254del)) - STAT5B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.751_762del r.(?) p.(Glu251_Gln254del) - - - - - - - - - - VUS g.40371401_40371412del - STAT5B(NM_012448.3):c.751_762del (p.(Glu251_Gln254del)) - STAT5B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.772C>T r.(?) p.(Arg258Trp) - - - - - - - - - - likely benign g.40371391G>A - STAT5B(NM_012448.3):c.772C>T (p.(Arg258Trp)) - STAT5B_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.789G>A r.(?) p.(Gly263=) - - - - - - - - - - likely benign g.40371374C>T g.42219356C>T STAT5B(NM_012448.3):c.789G>A (p.(Gly263=)) - STAT5B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.795C>T r.(?) p.(Gly265=) - - - - - - - - - - likely benign g.40371368G>A - STAT5B(NM_012448.3):c.795C>T (p.(Gly265=)) - STAT5B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.799C>A r.(?) p.(Pro267Thr) - - - - - - - - - - VUS g.40371364G>T - STAT5B(NM_012448.3):c.799C>A (p.(Pro267Thr)) - STAT5B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.819C>T r.(?) p.(Asp273=) - - - - - - - - - - likely benign g.40371344G>A - STAT5B(NM_012448.3):c.819C>T (p.D273=) - STAT5B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.833+15C>T r.(=) p.(=) - - - - - - - - - - likely benign g.40371315G>A - STAT5B(NM_012448.3):c.833+15C>T (p.(=)) - STAT5B_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.833+16G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40371314C>T g.42219296C>T STAT5B(NM_012448.3):c.833+16G>A - STAT5B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.836G>A r.(?) p.(Cys279Tyr) - - - - - - - - - - VUS g.40370894C>T g.42218876C>T STAT5B(NM_012448.3):c.836G>A (p.(Cys279Tyr)) - STAT5B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.843G>A r.(?) p.(Lys281=) - - - - - - - - - - likely benign g.40370887C>T - STAT5B(NM_012448.3):c.843G>A (p.(=)) - STAT5B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.909G>T r.(?) p.(=) - - - - - - - - - - VUS g.40370821C>A - STAT5B(NM_012448.3):c.909G>T (p.(Leu303=)) - STAT5B_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.939G>A r.(?) p.(Leu313=) - - - - - - - - - - likely benign g.40370791C>T - STAT5B(NM_012448.3):c.939G>A (p.(=)) - STAT5B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.942C>T r.(?) p.(=) - - - - - - - - - - likely benign g.40370788G>A - STAT5B(NM_012448.3):c.942C>T (p.(Ala314=)) - STAT5B_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.944A>C r.(?) p.(Glu315Ala) - - - - - - - - - - benign g.40370786T>G g.42218768T>G STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala)) - STAT5B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.944A>C r.(?) p.(Glu315Ala) - - - - - - - - - - likely benign g.40370786T>G - STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala)) - STAT5B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.944A>C r.(?) p.(Glu315Ala) - - - - - - - - - - likely benign g.40370786T>G - STAT5B(NM_012448.3):c.944A>C (p.E315A, p.(Glu315Ala)) - STAT5B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.993G>A r.(?) p.(Thr331=) - - - - - - - - - - benign g.40370345C>T g.42218327C>T STAT5B(NM_012448.3):c.993G>A (p.(Thr331=), p.T331=) - STAT5B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.993G>A r.(?) p.(Thr331=) - - - - - - - - - - likely benign g.40370345C>T - STAT5B(NM_012448.3):c.993G>A (p.(Thr331=), p.T331=) - STAT5B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1031C>G r.(?) p.(Thr344Ser) - - - - - - - - - - VUS g.40370307G>C - - - STAT5B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1053T>C r.(?) p.(Thr351=) - - - - - - - - - - likely benign g.40370285A>G - STAT5B(NM_012448.3):c.1053T>C (p.(Thr351=)) - STAT5B_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1056G>A r.(?) p.(Val352=) - - - - - - - - - - likely benign g.40370282C>T - STAT5B(NM_012448.3):c.1056G>A (p.(Val352=)) - STAT5B_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1057C>T r.(?) p.(Arg353Cys) - - - - - - - - - - VUS g.40370281G>A - STAT5B(NM_012448.4):c.1057C>T (p.R353C) - STAT5B_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1058G>A r.(?) p.(Arg353His) - - - - - - - - - - VUS g.40370280C>T g.42218262C>T STAT5B(NM_012448.3):c.1058G>A (p.R353H, p.(Arg353His)) - STAT5B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1058G>A r.(?) p.(Arg353His) - - - - - - - - - - VUS g.40370280C>T - STAT5B(NM_012448.3):c.1058G>A (p.R353H, p.(Arg353His)) - STAT5B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1099C>A r.(?) p.(Pro367Thr) - - - - - - - - - - VUS g.40370239G>T g.42218221G>T STAT5B(NM_012448.3):c.1099C>A (p.P367T) - STAT5B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1101C>A r.(?) p.(Pro367=) - - - - - - - - - - likely benign g.40370237G>T g.42218219G>T STAT5B(NM_012448.3):c.1101C>A (p.(Pro367=)) - STAT5B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 9 c.1102dup r.1102dup p.Gln368Profs*9 - - - - - S0003 DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023) - pathogenic (recessive) g.40370243dup g.42218225dup 1102_3insC - STAT5B_000004 - PubMed: Vidarsdottir 2006 - - Germline - - - - - Johan den Dunnen
+/. - c.1102dup r.(?) p.(Gln368ProfsTer9) - - - - - - - - - - pathogenic g.40370243dup g.42218225dup STAT5B(NM_012448.3):c.1102dup (p.(Gln368Profs*9)) - STAT5B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1156G>A r.(?) p.(Glu386Lys) - - - - - - - - - - VUS g.40370182C>T - - - STAT5B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1164C>T r.(?) p.(=) - - - - - - - - - - likely benign g.40370174G>A - STAT5B(NM_012448.3):c.1164C>T (p.(Thr388=)) - STAT5B_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 10 c.1191dup r.1191dup p.Asn398Glufs*16 - - - - - S0002 DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023) - pathogenic (recessive) g.40369461dup g.42217443dup 1191insG - STAT5B_000002 - PubMed: Hwa 2005 - - Germline - - - - - Johan den Dunnen
-?/. - c.1257+11A>C r.(=) p.(=) - - - - - - - - - - likely benign g.40369384T>G - STAT5B(NM_012448.3):c.1257+11A>C (p.(=)) - STAT5B_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1257+19G>A r.(=) p.(=) - - - - - - - - - - likely benign g.40369376C>T g.42217358C>T STAT5B(NM_012448.3):c.1257+19G>A - STAT5B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1301C>T r.(?) p.(Ser434Leu) - - - - - - - - - - VUS g.40369257G>A - STAT5B(NM_012448.3):c.1301C>T (p.S434L) - STAT5B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1335A>G r.(?) p.(Glu445=) - - - - - - - - - - likely benign g.40369223T>C - STAT5B(NM_012448.3):c.1335A>G (p.(Glu445=), p.E445=) - STAT5B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1335A>G r.(?) p.(Glu445=) - - - - - - - - - - likely benign g.40369223T>C - STAT5B(NM_012448.3):c.1335A>G (p.(Glu445=), p.E445=) - STAT5B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1380+1G>T r.spl? p.? - - - - - - - - - - likely pathogenic g.40369177C>A - STAT5B(NM_012448.3):c.1380+1G>T (p.?) - STAT5B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1380+17G>C r.(=) p.(=) - - - - - - - - - - likely benign g.40369161C>G - STAT5B(NM_012448.3):c.1380+17G>C (p.(=)) - STAT5B_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1474-4T>C r.spl? p.? - - - - - - - - - - likely benign g.40364212A>G - STAT5B(NM_012448.4):c.1474-4T>C - STAT5B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1491C>T r.(?) p.(Ala497=) - - - - - - - - - - likely benign g.40364191G>A - STAT5B(NM_012448.3):c.1491C>T (p.(Ala497=)) - STAT5B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1492G>A r.(?) p.(Val498Met) - - - - - - - - - - VUS g.40364190C>T g.42212172C>T STAT5B(NM_012448.3):c.1492G>A (p.V498M, p.(Val498Met)) - STAT5B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1492G>A r.(?) p.(Val498Met) - - - - - - - - - - likely pathogenic g.40364190C>T - STAT5B(NM_012448.3):c.1492G>A (p.V498M, p.(Val498Met)) - STAT5B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1551C>T r.(?) p.(=) - - - - - - - - - - likely benign g.40364131G>A - STAT5B(NM_012448.3):c.1551C>T (p.(Ala517=)) - STAT5B_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1644C>T r.(?) p.(Tyr548=) - - - - - - - - - - likely benign g.40364038G>A - STAT5B(NM_012448.3):c.1644C>T (p.(Tyr548=)) - STAT5B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1666T>A r.(?) p.(Ser556Thr) - - - - - - - - - - likely benign g.40364016A>T - STAT5B(NM_012448.3):c.1666T>A (p.(Ser556Thr)) - STAT5B_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 13 c.1680+1del r.spl? p.(Glu561Argfs*17) - - - - - - - - - - pathogenic (recessive) g.40364003del g.42211985del 1680delG - STAT5B_000005 - PubMed: Hwa 2007 - - Germline - - - - - Johan den Dunnen
+/. 13 c.1680+1del r.spl? p.(Glu561Argfs*17) - - - - - - - - - - pathogenic (recessive) g.40364003del g.42211985del 1680delG - STAT5B_000005 - PubMed: Hwa 2007 - - Germline - - - - - Johan den Dunnen
+/. - c.1681G>T r.(?) p.(Glu561Ter) - - - - - - - - - - pathogenic g.40362515C>A g.42210497C>A STAT5B(NM_012448.3):c.1681G>T (p.E561*) - STAT5B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1725C>T r.(?) p.(Asp575=) - - - - - - - - - - benign g.40362471G>A - STAT5B(NM_012448.3):c.1725C>T (p.(Asp575=)) - STAT5B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1745A>G r.(?) p.(Lys582Arg) - - - - - - - - - - VUS g.40362451T>C - STAT5B(NM_012448.3):c.1745A>G (p.(Lys582Arg)) - STAT5B_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1755C>T r.(?) p.(=) - - - - - - - - - - likely benign g.40362441G>A - STAT5B(NM_012448.3):c.1755C>T (p.(Leu585=)) - STAT5B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1775+3G>A r.spl? p.? - - - - - - - - - - likely benign g.40362418C>T - STAT5B(NM_012448.3):c.1775+3G>A (p.?) - STAT5B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1887T>C r.(?) p.(Ile629=) - - - - - - - - - - VUS g.40362208A>G - STAT5B(NM_012448.3):c.1887T>C (p.(=)) - STAT5B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 15 c.1888G>C r.1888g>c p.Ala630Pro - - - - - S0001 transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) - pathogenic (recessive) g.40362207C>G g.42210189C>G A630P - STAT5B_000001 poorly expressed in primary dermal fibroblasts, lack biological function; in primary T-lymphocytes dysregulation of Treg activity PubMed: Kofoed 2003 - - Germline - - - - - Johan den Dunnen
+?/. - c.1906+1G>A r.spl? p.? - - - - - - - - - - likely pathogenic g.40362188C>T - STAT5B(NM_012448.3):c.1906+1G>A (p.?) - STAT5B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1923G>C r.(?) p.(Trp641Cys) - - - - - - - - - - likely pathogenic g.40359730C>G g.42207712C>G STAT5B(NM_012448.3):c.1923G>C (p.(Trp641Cys)) - STAT5B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1924A>C r.(?) p.(Asn642His) - - - - - - - - - - VUS g.40359729T>G g.42207711T>G - - STAT5B_000008 - PubMed: Rajala 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.1924A>C r.(?) p.(Asn642His) - - - - - - - - - - VUS g.40359729T>G - STAT5B(NM_012448.3):c.1924A>C (p.N642H) - STAT5B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1935T>C r.(?) p.(Pro645=) - - - - - - - - - - likely benign g.40359718A>G - STAT5B(NM_012448.3):c.1935T>C (p.(Pro645=)) - STAT5B_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1937T>C r.(?) p.(Phe646Ser) - - - - - - - - - - likely pathogenic (recessive) g.40359716A>G g.42207698A>G - - STAT5B_000007 - PubMed: Scaglia 2012 - - Germline - - - - - Johan den Dunnen
-?/. - c.1971C>T r.(?) p.(Ala657=) - - - - - - - - - - likely benign g.40359682G>A - STAT5B(NM_012448.3):c.1971C>T (p.(Ala657=)) - STAT5B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1972G>A r.(?) p.(Asp658Asn) - - - - - - - - - - VUS g.40359681C>T - STAT5B(NM_012448.3):c.1972G>A (p.(Asp658Asn)) - STAT5B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1994A>T r.(?) p.(Tyr665Phe) - - - - - - - - - - VUS g.40359659T>A g.42207641T>A - - STAT5B_000006 - PubMed: Rajala 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.2004C>T r.(?) p.(Tyr668=) - - - - - - - - - - likely benign g.40359649G>A - STAT5B(NM_012448.3):c.2004C>T (p.Y668=) - STAT5B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2077+12C>T r.(=) p.(=) - - - - - - - - - - likely benign g.40359564G>A - STAT5B(NM_012448.3):c.2077+12C>T (p.(=)) - STAT5B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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