NM_012448.3(STAT5B):c.1596C>A (p.Phe532Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000556627] |
Chr17:42212068 [GRCh38] Chr17:40364086 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
NM_012448.3(STAT5B):c.1888G>C (p.Ala630Pro) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006048] |
Chr17:42210189 [GRCh38] Chr17:40362207 [GRCh37] Chr17:17q21.2 |
pathogenic |
STAT5B, 1-BP INS, 1191G |
insertion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006049] |
Chr17:17q11.2 |
pathogenic |
STAT5B, 1-BP INS, 1102C |
insertion |
Growth hormone insensitivity with immunodeficiency [RCV000006050] |
Chr17:17q11.2 |
pathogenic |
NM_012448.3(STAT5B):c.454C>T (p.Arg152Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006051] |
Chr17:42223478 [GRCh38] Chr17:40375496 [GRCh37] Chr17:17q21.2 |
pathogenic |
STAT5B, 1-BP DEL, EXON 13/INTRON 13 JUNCTION |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006052] |
Chr17:17q11.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
NM_012448.3(STAT5B):c.-10-17360A>G |
single nucleotide variant |
Lung cancer [RCV000100462] |
Chr17:42249497 [GRCh38] Chr17:40401515 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 |
copy number gain |
See cases [RCV000052479] |
Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31 |
pathogenic |
NM_012448.3(STAT5B):c.1581G>A (p.Lys527=) |
single nucleotide variant |
Malignant melanoma [RCV000063222] |
Chr17:42212083 [GRCh38] Chr17:40364101 [GRCh37] Chr17:37617627 [NCBI36] Chr17:17q21.2 |
not provided |
NM_012448.4(STAT5B):c.1619A>G (p.Asn540Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001246433] |
Chr17:42212045 [GRCh38] Chr17:40364063 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2237+15T>C |
single nucleotide variant |
not specified [RCV000175329] |
Chr17:42202325 [GRCh38] Chr17:40354343 [GRCh37] Chr17:17q21.2 |
benign |
NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000544095]|not specified [RCV000180639] |
Chr17:42218219 [GRCh38] Chr17:40370237 [GRCh37] Chr17:17q21.2 |
benign |
NM_012448.3(STAT5B):c.993G>A (p.Thr331=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000538129]|not specified [RCV000180640] |
Chr17:42218327 [GRCh38] Chr17:40370345 [GRCh37] Chr17:17q21.2 |
benign |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
NM_012448.3(STAT5B):c.799C>G (p.Pro267Ala) |
single nucleotide variant |
not specified [RCV000238653] |
Chr17:42219346 [GRCh38] Chr17:40371364 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1569G>A (p.Arg523=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001079617]|not provided [RCV000260077] |
Chr17:42212095 [GRCh38] Chr17:40364113 [GRCh37] Chr17:17q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012448.3(STAT5B):c.247C>T (p.Leu83=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642182]|not specified [RCV000297966] |
Chr17:42227567 [GRCh38] Chr17:40379585 [GRCh37] Chr17:17q21.2 |
benign |
NM_012448.3(STAT5B):c.1335A>G (p.Glu445=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000971309]|not specified [RCV000406641] |
Chr17:42217205 [GRCh38] Chr17:40369223 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_012448.3(STAT5B):c.1058G>A (p.Arg353His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001088577]|not provided [RCV000592373] |
Chr17:42218262 [GRCh38] Chr17:40370280 [GRCh37] Chr17:17q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012448.3(STAT5B):c.690C>T (p.Ala230=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000557388] |
Chr17:42219455 [GRCh38] Chr17:40371473 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_012448.3(STAT5B):c.2098G>A (p.Val700Met) |
single nucleotide variant |
not provided [RCV000732454] |
Chr17:42202788 [GRCh38] Chr17:40354806 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.280C>T (p.Leu94Phe) |
single nucleotide variant |
not provided [RCV000733294] |
Chr17:42227534 [GRCh38] Chr17:40379552 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2185G>T (p.Ala729Ser) |
single nucleotide variant |
not provided [RCV000544863] |
Chr17:42202392 [GRCh38] Chr17:40354410 [GRCh37] Chr17:17q21.2 |
likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_012448.3(STAT5B):c.1408G>A (p.Val470Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642180] |
Chr17:42216079 [GRCh38] Chr17:40368097 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.530A>C (p.Gln177Pro) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254778]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625745] |
Chr17:42223402 [GRCh38] Chr17:40375420 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_012448.3(STAT5B):c.429G>C (p.Gln143His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001086255]|not provided [RCV000731369] |
Chr17:42223503 [GRCh38] Chr17:40375521 [GRCh37] Chr17:17q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012448.3(STAT5B):c.798G>C (p.Gly266=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642184] |
Chr17:42219347 [GRCh38] Chr17:40371365 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.3(STAT5B):c.551-5T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642187] |
Chr17:42219847 [GRCh38] Chr17:40371865 [GRCh37] Chr17:17q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_012448.3(STAT5B):c.319C>T (p.Arg107Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642179] |
Chr17:42224835 [GRCh38] Chr17:40376853 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2292C>T (p.Asp764=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642183] |
Chr17:42201810 [GRCh38] Chr17:40353828 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.3(STAT5B):c.561C>T (p.Gly187=) |
single nucleotide variant |
not provided [RCV000642189] |
Chr17:42219832 [GRCh38] Chr17:40371850 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.3(STAT5B):c.1421A>G (p.Gln474Arg) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254780]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625734] |
Chr17:42216066 [GRCh38] Chr17:40368084 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_012448.3(STAT5B):c.1433C>T (p.Ala478Val) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001254779]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000625735] |
Chr17:42216054 [GRCh38] Chr17:40368072 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_012448.3(STAT5B):c.1591G>A (p.Val531Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642178] |
Chr17:42212073 [GRCh38] Chr17:40364091 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1725C>T (p.Asp575=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000532245] |
Chr17:42210453 [GRCh38] Chr17:40362471 [GRCh37] Chr17:17q21.2 |
benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_012448.3(STAT5B):c.691G>A (p.Glu231Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642181] |
Chr17:42219454 [GRCh38] Chr17:40371472 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.550+7C>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642186] |
Chr17:42223375 [GRCh38] Chr17:40375393 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.3(STAT5B):c.773G>A (p.Arg258Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000701452] |
Chr17:42219372 [GRCh38] Chr17:40371390 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2161G>A (p.Gly721Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694293]|not provided [RCV000788308] |
Chr17:42202416 [GRCh38] Chr17:40354434 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2018G>A (p.Arg673Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000697526] |
Chr17:42207617 [GRCh38] Chr17:40359635 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2065G>A (p.Glu689Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000690864] |
Chr17:42207570 [GRCh38] Chr17:40359588 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1102dup (p.Gln368fs) |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000703112] |
Chr17:42218217..42218218 [GRCh38] Chr17:40370235..40370236 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_012448.3(STAT5B):c.1529C>T (p.Ala510Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694274] |
Chr17:42212135 [GRCh38] Chr17:40364153 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_012448.4(STAT5B):c.795C>T (p.Gly265=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000893315] |
Chr17:42219350 [GRCh38] Chr17:40371368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1704C>T (p.Tyr568=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000944603] |
Chr17:42210474 [GRCh38] Chr17:40362492 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.944A>C (p.Glu315Ala) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000973748] |
Chr17:42218768 [GRCh38] Chr17:40370786 [GRCh37] Chr17:17q21.2 |
benign |
NM_012448.4(STAT5B):c.975A>C (p.Ser325=) |
single nucleotide variant |
not provided [RCV000923238] |
Chr17:42218737 [GRCh38] Chr17:40370755 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1995C>T (p.Tyr665=) |
single nucleotide variant |
not provided [RCV000927061] |
Chr17:42207640 [GRCh38] Chr17:40359658 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.789G>A (p.Gly263=) |
single nucleotide variant |
not provided [RCV000924321] |
Chr17:42219356 [GRCh38] Chr17:40371374 [GRCh37] Chr17:17q21.2 |
benign |
NM_012448.4(STAT5B):c.2004C>T (p.Tyr668=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000925432] |
Chr17:42207631 [GRCh38] Chr17:40359649 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001062229] |
Chr17:42217416 [GRCh38] Chr17:40369434 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1102del (p.Gln368fs) |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001042704] |
Chr17:42218218 [GRCh38] Chr17:40370236 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_012448.4(STAT5B):c.1927C>T (p.Leu643=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000884958] |
Chr17:42207708 [GRCh38] Chr17:40359726 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1971C>T (p.Ala657=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000898312] |
Chr17:42207664 [GRCh38] Chr17:40359682 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1203C>T (p.Cys401=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000929703] |
Chr17:42217431 [GRCh38] Chr17:40369449 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.2129+8T>G |
single nucleotide variant |
not provided [RCV000982309] |
Chr17:42202749 [GRCh38] Chr17:40354767 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1323A>C (p.Thr441=) |
single nucleotide variant |
not provided [RCV000978092] |
Chr17:42217217 [GRCh38] Chr17:40369235 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1113C>T (p.Ala371=) |
single nucleotide variant |
not provided [RCV000938406] |
Chr17:42218207 [GRCh38] Chr17:40370225 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1551C>T (p.Ala517=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000982070] |
Chr17:42212113 [GRCh38] Chr17:40364131 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.2130-8T>A |
single nucleotide variant |
not provided [RCV000941047] |
Chr17:42202455 [GRCh38] Chr17:40354473 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1644C>T (p.Tyr548=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000917029] |
Chr17:42212020 [GRCh38] Chr17:40364038 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.99T>C (p.Tyr33=) |
single nucleotide variant |
not provided [RCV000920221] |
Chr17:42232029 [GRCh38] Chr17:40384047 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.2271C>T (p.Phe757=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000981368] |
Chr17:42201831 [GRCh38] Chr17:40353849 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.3(STAT5B):c.787G>A (p.Gly263Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000793190] |
Chr17:42219358 [GRCh38] Chr17:40371376 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.550+5G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000802655] |
Chr17:42223377 [GRCh38] Chr17:40375395 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1084G>A (p.Val362Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000817427] |
Chr17:42218236 [GRCh38] Chr17:40370254 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2176A>G (p.Met726Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000804544] |
Chr17:42202401 [GRCh38] Chr17:40354419 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1924A>C (p.Asn642His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814132]|not provided [RCV001090842] |
Chr17:42207711 [GRCh38] Chr17:40359729 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_012448.3(STAT5B):c.2167G>A (p.Ala723Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000824266] |
Chr17:42202410 [GRCh38] Chr17:40354428 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2005G>A (p.Val669Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000800005] |
Chr17:42207630 [GRCh38] Chr17:40359648 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.2098G>T (p.Val700Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814682] |
Chr17:42202788 [GRCh38] Chr17:40354806 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1337C>T (p.Ser446Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000800159] |
Chr17:42217203 [GRCh38] Chr17:40369221 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.1346G>A (p.Ser449Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000804056] |
Chr17:42217194 [GRCh38] Chr17:40369212 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.799C>T (p.Pro267Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001217286]|not provided [RCV000788820] |
Chr17:42219346 [GRCh38] Chr17:40371364 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.440C>T (p.Thr147Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000814771] |
Chr17:42223492 [GRCh38] Chr17:40375510 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.650G>A (p.Arg217His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000815221] |
Chr17:42219743 [GRCh38] Chr17:40371761 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.3(STAT5B):c.637G>T (p.Ala213Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000799135] |
Chr17:42219756 [GRCh38] Chr17:40371774 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.840G>A (p.Glu280=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000981630] |
Chr17:42218872 [GRCh38] Chr17:40370890 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001046851] |
Chr17:42201758 [GRCh38] Chr17:40353776 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001204975] |
Chr17:42217233 [GRCh38] Chr17:40369251 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001224393] |
Chr17:42210232 [GRCh38] Chr17:40362250 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001223277] |
Chr17:42201842 [GRCh38] Chr17:40353860 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001225389] |
Chr17:42218154 [GRCh38] Chr17:40370172 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2186C>T (p.Ala729Val) |
single nucleotide variant |
not provided [RCV000996545] |
Chr17:42202391 [GRCh38] Chr17:40354409 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.59C>T (p.Ala20Val) |
single nucleotide variant |
not provided [RCV000996546] |
Chr17:42232069 [GRCh38] Chr17:40384087 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000922419] |
Chr17:42202789 [GRCh38] Chr17:40354807 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.989+9T>C |
single nucleotide variant |
not provided [RCV000909894] |
Chr17:42218714 [GRCh38] Chr17:40370732 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.741C>T (p.Ile247=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000932419] |
Chr17:42219404 [GRCh38] Chr17:40371422 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.849C>T (p.Ala283=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000909946] |
Chr17:42218863 [GRCh38] Chr17:40370881 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.834-7C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000909979] |
Chr17:42218885 [GRCh38] Chr17:40370903 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.389C>T (p.Ala130Val) |
single nucleotide variant |
not provided [RCV000906900] |
Chr17:42223543 [GRCh38] Chr17:40375561 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.853A>G (p.Ile285Val) |
single nucleotide variant |
STAT5B-related growth hormone insensitivity syndrome [RCV001095742] |
Chr17:42218859 [GRCh38] Chr17:40370877 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001045313] |
Chr17:42202362 [GRCh38] Chr17:40354380 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001227790] |
Chr17:42211998 [GRCh38] Chr17:40364016 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1164C>T (p.Thr388=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000889374] |
Chr17:42218156 [GRCh38] Chr17:40370174 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.1935T>C (p.Pro645=) |
single nucleotide variant |
not provided [RCV000912646] |
Chr17:42207700 [GRCh38] Chr17:40359718 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.582C>T (p.Pro194=) |
single nucleotide variant |
not provided [RCV000936053] |
Chr17:42219811 [GRCh38] Chr17:40371829 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001205794] |
Chr17:42227636 [GRCh38] Chr17:40379654 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001051678] |
Chr17:42201754 [GRCh38] Chr17:40353772 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001235107] |
Chr17:42202392 [GRCh38] Chr17:40354410 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001207139] |
Chr17:42216025 [GRCh38] Chr17:40368043 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001052090] |
Chr17:42218203 [GRCh38] Chr17:40370221 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001218212] |
Chr17:42218290 [GRCh38] Chr17:40370308 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.550+7C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001027846] |
Chr17:42223375 [GRCh38] Chr17:40375393 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001037331] |
Chr17:42218787 [GRCh38] Chr17:40370805 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001056148] |
Chr17:42223393 [GRCh38] Chr17:40375411 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001202890] |
Chr17:42232115 [GRCh38] Chr17:40384133 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001039345] |
Chr17:42223468 [GRCh38] Chr17:40375486 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001253111] |
Chr17:42232037 [GRCh38] Chr17:40384055 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001267796] |
Chr17:42224856 [GRCh38] Chr17:40376874 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001281001] |
Chr17:42201749 [GRCh38] Chr17:40353767 [GRCh37] Chr17:17q21.2 |
uncertain significance |