| NM_012448.4(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_012448.4(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 |
| NM_012448.4(STAT5B):c.1191dup (p.Asn398fs) |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006049] |
Chr17:42217442..42217443 [GRCh38]
Chr17:40369460..40369461 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| STAT5B, 1-BP INS, 1102C |
insertion |
Growth hormone insensitivity with immunodeficiency [RCV000006050] |
Chr17:17q11.2 |
pathogenic |
| NM_012448.4(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 |
| NM_012448.4(STAT5B):c.1680+1del |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000006052] |
Chr17:42211983 [GRCh38]
Chr17:40364001 [GRCh37]
Chr17:17q21.2 |
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_012448.4(STAT5B):c.2237+15T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001519635]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002500479]|not provided [RCV004709349]|not specified [RCV000175329] |
Chr17:42202325 [GRCh38]
Chr17:40354343 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000544095]|not provided [RCV002225494]|not specified [RCV000180639] |
Chr17:42218219 [GRCh38]
Chr17:40370237 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.993G>A (p.Thr331=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000538129]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002485183]|not provided [RCV004709353]|not specified [RCV000180640] |
Chr17:42218327 [GRCh38]
Chr17:40370345 [GRCh37]
Chr17:17q21.2 |
benign|likely 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_012448.4(STAT5B):c.799C>G (p.Pro267Ala) |
single nucleotide variant |
not specified [RCV000238653] |
Chr17:42219346 [GRCh38]
Chr17:40371364 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(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_012448.4(STAT5B):c.247C>T (p.Leu83=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642182]|not provided [RCV003326397]|not specified [RCV000297966] |
Chr17:42227567 [GRCh38]
Chr17:40379585 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.1335A>G (p.Glu445=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000971309]|not provided [RCV004703578]|not specified [RCV000406641] |
Chr17:42217205 [GRCh38]
Chr17:40369223 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(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_012448.4(STAT5B):c.690C>T (p.Ala230=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000557388]|not provided [RCV004710122] |
Chr17:42219455 [GRCh38]
Chr17:40371473 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.2098G>A (p.Val700Met) |
single nucleotide variant |
not provided [RCV000732454] |
Chr17:42202788 [GRCh38]
Chr17:40354806 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.280C>T (p.Leu94Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001401938]|not provided [RCV000733294] |
Chr17:42227534 [GRCh38]
Chr17:40379552 [GRCh37]
Chr17:17q21.2 |
likely benign|uncertain significance |
| NM_012448.4(STAT5B):c.2185G>T (p.Ala729Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001399263] |
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_012448.4(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_012448.4(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_012448.4(STAT5B):c.2135_2139dup (p.Ala714Ter) |
duplication |
not provided [RCV003312388] |
Chr17:42202437..42202438 [GRCh38]
Chr17:40354455..40354456 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(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_012448.4(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_012448.4(STAT5B):c.551-5T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000642187]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003227816]|not provided [RCV001572970] |
Chr17:42219847 [GRCh38]
Chr17:40371865 [GRCh37]
Chr17:17q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_012448.4(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_012448.4(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_012448.4(STAT5B):c.561C>T (p.Gly187=) |
single nucleotide variant |
not provided [RCV000642189] |
Chr17:42219832 [GRCh38]
Chr17:40371850 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(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_012448.4(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_012448.4(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_012448.4(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_012448.4(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_012448.4(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_012448.4(STAT5B):c.773G>A (p.Arg258Gln) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV003322613]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000701452]|not provided [RCV004692169] |
Chr17:42219372 [GRCh38]
Chr17:40371390 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694293]|not provided [RCV000788308]|not specified [RCV003489815] |
Chr17:42202416 [GRCh38]
Chr17:40354434 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(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_012448.4(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_012448.4(STAT5B):c.1102dup (p.Gln368fs) |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000703112]|not provided [RCV002298747] |
Chr17:42218217..42218218 [GRCh38]
Chr17:40370235..40370236 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.1529C>T (p.Ala510Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000694274]|Inborn genetic diseases [RCV002531491] |
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]|not provided [RCV003424452] |
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]|not provided [RCV001796338]|not specified [RCV001796832] |
Chr17:42218768 [GRCh38]
Chr17:40370786 [GRCh37]
Chr17:17q21.2 |
benign|likely 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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001422492] |
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]|STAT5B-related disorder [RCV003923320] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001464994] |
Chr17:42202749 [GRCh38]
Chr17:40354767 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1323A>C (p.Thr441=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002066468] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001460038] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002065947] |
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_012448.4(STAT5B):c.787G>A (p.Gly263Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000793190]|Inborn genetic diseases [RCV004027437] |
Chr17:42219358 [GRCh38]
Chr17:40371376 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(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_012448.4(STAT5B):c.1084G>A (p.Val362Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000817427]|STAT5B-related disorder [RCV003432777] |
Chr17:42218236 [GRCh38]
Chr17:40370254 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(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_012448.4(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|conflicting interpretations of pathogenicity|uncertain significance |
| NM_012448.4(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_012448.4(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_012448.4(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_012448.4(STAT5B):c.1337C>T (p.Ser446Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000800159]|Inborn genetic diseases [RCV004669124]|not provided [RCV003314647] |
Chr17:42217203 [GRCh38]
Chr17:40369221 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(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_012448.4(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_012448.4(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_012448.4(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_012448.4(STAT5B):c.637G>T (p.Ala213Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV000799135]|Inborn genetic diseases [RCV003372853] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505152]|not provided [RCV000996546] |
Chr17:42232069 [GRCh38]
Chr17:40384087 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.286-232C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001542350] |
Chr17:42225100 [GRCh38]
Chr17:40377118 [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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001398824] |
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]|not provided [RCV004704309] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001433639] |
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]|not provided [RCV004693502] |
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]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002480748] |
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 |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001471958] |
Chr17:42207700 [GRCh38]
Chr17:40359718 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.582C>T (p.Pro194=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001392251] |
Chr17:42219811 [GRCh38]
Chr17:40371829 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1324A>G (p.Ile442Val) |
single nucleotide variant |
not provided [RCV002465968] |
Chr17:42217216 [GRCh38]
Chr17:40369234 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2077+33TG[18] |
microsatellite |
not provided [RCV001675409] |
Chr17:42207488..42207489 [GRCh38]
Chr17:40359506..40359507 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.*184TG[14] |
microsatellite |
not provided [RCV001655958] |
Chr17:42201525..42201526 [GRCh38]
Chr17:40353543..40353544 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.1473+269T>G |
single nucleotide variant |
not provided [RCV001714807] |
Chr17:42215745 [GRCh38]
Chr17:40367763 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.-10-124T>C |
single nucleotide variant |
not provided [RCV001658457] |
Chr17:42232261 [GRCh38]
Chr17:40384279 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.376-307C>A |
single nucleotide variant |
not provided [RCV001595417] |
Chr17:42223863 [GRCh38]
Chr17:40375881 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.1208T>G (p.Met403Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001542349] |
Chr17:42217426 [GRCh38]
Chr17:40369444 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.-11+7921A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001542351] |
Chr17:42268327 [GRCh38]
Chr17:40420345 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1170-241dup |
duplication |
not provided [RCV001678852] |
Chr17:42217689..42217690 [GRCh38]
Chr17:40369707..40369708 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.285+150del |
deletion |
not provided [RCV001616010] |
Chr17:42227379 [GRCh38]
Chr17:40379397 [GRCh37]
Chr17:17q21.2 |
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]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003227894] |
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 syndrome with immune dysregulation [RCV003458609]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001056148]|Inborn genetic diseases [RCV002554395] |
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]|not provided [RCV004597968] |
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.834-9C>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001324644] |
Chr17:42218887 [GRCh38]
Chr17:40370905 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2272G>A (p.Asp758Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001316516] |
Chr17:42201830 [GRCh38]
Chr17:40353848 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.869G>C (p.Arg290Pro) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001325610] |
Chr17:42218843 [GRCh38]
Chr17:40370861 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.676C>T (p.Arg226Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001351627]|STAT5B-related disorder [RCV003393997] |
Chr17:42219717 [GRCh38]
Chr17:40371735 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1775+3G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001297146] |
Chr17:42210400 [GRCh38]
Chr17:40362418 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001349089] |
Chr17:42202352 [GRCh38]
Chr17:40354370 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.627G>C (p.Val209=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001412398] |
Chr17:42219766 [GRCh38]
Chr17:40371784 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1746A>G (p.Lys582=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001391914] |
Chr17:42210432 [GRCh38]
Chr17:40362450 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.60G>A (p.Ala20=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001395025] |
Chr17:42232068 [GRCh38]
Chr17:40384086 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.681+3G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001363425] |
Chr17:42219709 [GRCh38]
Chr17:40371727 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.963G>A (p.Thr321=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001359605] |
Chr17:42218749 [GRCh38]
Chr17:40370767 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.814C>G (p.Leu272Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001370706] |
Chr17:42219331 [GRCh38]
Chr17:40371349 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.834-6G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001413639] |
Chr17:42218884 [GRCh38]
Chr17:40370902 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.354G>T (p.Arg118Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001303859] |
Chr17:42224800 [GRCh38]
Chr17:40376818 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1090A>G (p.Met364Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001362448] |
Chr17:42218230 [GRCh38]
Chr17:40370248 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1133A>T (p.Gln378Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001362803] |
Chr17:42218187 [GRCh38]
Chr17:40370205 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2242G>A (p.Asp748Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001373762] |
Chr17:42201860 [GRCh38]
Chr17:40353878 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.644T>C (p.Leu215Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001321869] |
Chr17:42219749 [GRCh38]
Chr17:40371767 [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]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001325583] |
Chr17:42201749 [GRCh38]
Chr17:40353767 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.721C>T (p.Arg241Trp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001351144] |
Chr17:42219424 [GRCh38]
Chr17:40371442 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2293G>A (p.Val765Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001294906] |
Chr17:42201809 [GRCh38]
Chr17:40353827 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.638C>G (p.Ala213Gly) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV001796452]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001343173] |
Chr17:42219755 [GRCh38]
Chr17:40371773 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.599G>A (p.Arg200Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001373322]|Inborn genetic diseases [RCV002548671] |
Chr17:42219794 [GRCh38]
Chr17:40371812 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.7G>A (p.Val3Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001344589] |
Chr17:42232121 [GRCh38]
Chr17:40384139 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1091T>C (p.Met364Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001363970] |
Chr17:42218229 [GRCh38]
Chr17:40370247 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1403T>C (p.Val468Ala) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001364478]|Inborn genetic diseases [RCV002548565] |
Chr17:42216084 [GRCh38]
Chr17:40368102 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2359T>C (p.Ser787Pro) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV004546637]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001340298] |
Chr17:42201743 [GRCh38]
Chr17:40353761 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2064C>T (p.Cys688=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001367747] |
Chr17:42207571 [GRCh38]
Chr17:40359589 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1783T>C (p.Leu595=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001412492] |
Chr17:42210294 [GRCh38]
Chr17:40362312 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2358A>G (p.Gln786=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001368934]|Inborn genetic diseases [RCV004671376] |
Chr17:42201744 [GRCh38]
Chr17:40353762 [GRCh37]
Chr17:17q21.2 |
likely benign|uncertain significance |
| NM_012448.4(STAT5B):c.2118A>G (p.Gln706=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001395056] |
Chr17:42202768 [GRCh38]
Chr17:40354786 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.703A>C (p.Lys235Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001337157] |
Chr17:42219442 [GRCh38]
Chr17:40371460 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.129-6C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001348857] |
Chr17:42227691 [GRCh38]
Chr17:40379709 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.375+9C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001481507] |
Chr17:42224770 [GRCh38]
Chr17:40376788 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.376-15C>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001515177]|not provided [RCV001573490]|not specified [RCV001702105] |
Chr17:42223571 [GRCh38]
Chr17:40375589 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.1950C>T (p.Asp650=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001485688] |
Chr17:42207685 [GRCh38]
Chr17:40359703 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1386G>T (p.Leu462=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001490681] |
Chr17:42216101 [GRCh38]
Chr17:40368119 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.474A>G (p.Thr158=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001430498] |
Chr17:42223458 [GRCh38]
Chr17:40375476 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.162C>T (p.Asn54=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001519959] |
Chr17:42227652 [GRCh38]
Chr17:40379670 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.129-8T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001471063] |
Chr17:42227693 [GRCh38]
Chr17:40379711 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.285+12C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001511322] |
Chr17:42227517 [GRCh38]
Chr17:40379535 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.696G>A (p.Lys232=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001466368] |
Chr17:42219449 [GRCh38]
Chr17:40371467 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2129+9C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001415776] |
Chr17:42202748 [GRCh38]
Chr17:40354766 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1455C>T (p.Asp485=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001470281] |
Chr17:42216032 [GRCh38]
Chr17:40368050 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1907-4C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001406181] |
Chr17:42207732 [GRCh38]
Chr17:40359750 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1554A>G (p.Glu518=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001434668] |
Chr17:42212110 [GRCh38]
Chr17:40364128 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.906G>A (p.Gln302=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001466381] |
Chr17:42218806 [GRCh38]
Chr17:40370824 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2154C>A (p.Ala718=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001488288] |
Chr17:42202423 [GRCh38]
Chr17:40354441 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2232A>G (p.Pro744=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001506504] |
Chr17:42202345 [GRCh38]
Chr17:40354363 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.989+10G>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001481986] |
Chr17:42218713 [GRCh38]
Chr17:40370731 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1755C>T (p.Leu585=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001409488] |
Chr17:42210423 [GRCh38]
Chr17:40362441 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.121C>T (p.Gln41Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001387244] |
Chr17:42232007 [GRCh38]
Chr17:40384025 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.951C>T (p.Asn317=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001448789] |
Chr17:42218761 [GRCh38]
Chr17:40370779 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.678C>T (p.Arg226=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001409505] |
Chr17:42219715 [GRCh38]
Chr17:40371733 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2352C>T (p.His784=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001448746]|not provided [RCV001702594] |
Chr17:42201750 [GRCh38]
Chr17:40353768 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2259C>T (p.Thr753=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001430725] |
Chr17:42201843 [GRCh38]
Chr17:40353861 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2154C>T (p.Ala718=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001407520] |
Chr17:42202423 [GRCh38]
Chr17:40354441 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1089C>T (p.His363=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001403092] |
Chr17:42218231 [GRCh38]
Chr17:40370249 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.315G>T (p.Leu105=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001418626] |
Chr17:42224839 [GRCh38]
Chr17:40376857 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1140G>A (p.Lys380=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001428959] |
Chr17:42218180 [GRCh38]
Chr17:40370198 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.550+9C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001437930] |
Chr17:42223373 [GRCh38]
Chr17:40375391 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2007G>A (p.Val669=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001436611] |
Chr17:42207628 [GRCh38]
Chr17:40359646 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.681+9G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001429633] |
Chr17:42219703 [GRCh38]
Chr17:40371721 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2361G>A (p.Ser787=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001393788] |
Chr17:42201741 [GRCh38]
Chr17:40353759 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1281A>T (p.Ser427=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001401735] |
Chr17:42217259 [GRCh38]
Chr17:40369277 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.564G>A (p.Pro188=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001411853] |
Chr17:42219829 [GRCh38]
Chr17:40371847 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1474-9C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001455185] |
Chr17:42212199 [GRCh38]
Chr17:40364217 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.177G>A (p.Gln59=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001452582] |
Chr17:42227637 [GRCh38]
Chr17:40379655 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1707T>C (p.Thr569=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001453208] |
Chr17:42210471 [GRCh38]
Chr17:40362489 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.551-10C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001497993] |
Chr17:42219852 [GRCh38]
Chr17:40371870 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1392G>A (p.Leu464=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001484396] |
Chr17:42216095 [GRCh38]
Chr17:40368113 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.844T>C (p.Leu282=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001502159] |
Chr17:42218868 [GRCh38]
Chr17:40370886 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.171C>T (p.Ala57=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001513202]|not provided [RCV004710269] |
Chr17:42227643 [GRCh38]
Chr17:40379661 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.2077+12C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001520716]|not provided [RCV004710291] |
Chr17:42207546 [GRCh38]
Chr17:40359564 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.819C>T (p.Asp273=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001500320] |
Chr17:42219326 [GRCh38]
Chr17:40371344 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.750C>T (p.Asp250=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001471684] |
Chr17:42219395 [GRCh38]
Chr17:40371413 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1906+1G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001377593]|not provided [RCV003490235] |
Chr17:42210170 [GRCh38]
Chr17:40362188 [GRCh37]
Chr17:17q21.2 |
likely pathogenic |
| NM_012448.4(STAT5B):c.579C>T (p.Ser193=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001394164] |
Chr17:42219814 [GRCh38]
Chr17:40371832 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002246745] |
Chr17:42210460 [GRCh38]
Chr17:40362478 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.1268G>A (p.Arg423Gln) |
single nucleotide variant |
not provided [RCV001776444] |
Chr17:42217272 [GRCh38]
Chr17:40369290 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.679G>A (p.Val227Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001982672] |
Chr17:42219714 [GRCh38]
Chr17:40371732 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.375+17G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002074123]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002482317]|not provided [RCV001794950] |
Chr17:42224762 [GRCh38]
Chr17:40376780 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.68G>A (p.Gly23Asp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001969283] |
Chr17:42232060 [GRCh38]
Chr17:40384078 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1009C>A (p.Gln337Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001913279] |
Chr17:42218311 [GRCh38]
Chr17:40370329 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.392G>T (p.Gly131Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002005288] |
Chr17:42223540 [GRCh38]
Chr17:40375558 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1552G>A (p.Glu518Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001927413] |
Chr17:42212112 [GRCh38]
Chr17:40364130 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2129+16G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001910651] |
Chr17:42202741 [GRCh38]
Chr17:40354759 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1745A>G (p.Lys582Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002043617] |
Chr17:42210433 [GRCh38]
Chr17:40362451 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2329A>G (p.Met777Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001965101] |
Chr17:42201773 [GRCh38]
Chr17:40353791 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1925A>G (p.Asn642Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001983461] |
Chr17:42207710 [GRCh38]
Chr17:40359728 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1001T>C (p.Ile334Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001918187] |
Chr17:42218319 [GRCh38]
Chr17:40370337 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2077+7A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001904279] |
Chr17:42207551 [GRCh38]
Chr17:40359569 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.677G>A (p.Arg226His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001877434]|not provided [RCV003481156] |
Chr17:42219716 [GRCh38]
Chr17:40371734 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.328C>T (p.Arg110Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001877495] |
Chr17:42224826 [GRCh38]
Chr17:40376844 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1071C>T (p.Gly357=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001937001] |
Chr17:42218249 [GRCh38]
Chr17:40370267 [GRCh37]
Chr17:17q21.2 |
likely benign|uncertain significance |
| NM_012448.4(STAT5B):c.1676A>C (p.Asn559Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001955853] |
Chr17:42211988 [GRCh38]
Chr17:40364006 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.375T>C (p.Asn125=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002030785] |
Chr17:42224779 [GRCh38]
Chr17:40376797 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.395G>A (p.Ser132Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001864686] |
Chr17:42223537 [GRCh38]
Chr17:40375555 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001936618] |
Chr17:42201778 [GRCh38]
Chr17:40353796 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2065G>T (p.Glu689Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001898567] |
Chr17:42207570 [GRCh38]
Chr17:40359588 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.992C>T (p.Thr331Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001977811] |
Chr17:42218328 [GRCh38]
Chr17:40370346 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2063G>A (p.Cys688Tyr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001882117] |
Chr17:42207572 [GRCh38]
Chr17:40359590 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.563C>A (p.Pro188Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001940758] |
Chr17:42219830 [GRCh38]
Chr17:40371848 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.407C>A (p.Ala136Asp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001998171] |
Chr17:42223525 [GRCh38]
Chr17:40375543 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.362G>T (p.Arg121Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002018363] |
Chr17:42224792 [GRCh38]
Chr17:40376810 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1100C>A (p.Pro367His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001883990] |
Chr17:42218220 [GRCh38]
Chr17:40370238 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1009C>T (p.Gln337Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001960505] |
Chr17:42218311 [GRCh38]
Chr17:40370329 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.2303G>A (p.Arg768His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002051274] |
Chr17:42201799 [GRCh38]
Chr17:40353817 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2238-19C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002012542] |
Chr17:42201883 [GRCh38]
Chr17:40353901 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1416C>T (p.Gly472=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001977363] |
Chr17:42216071 [GRCh38]
Chr17:40368089 [GRCh37]
Chr17:17q21.2 |
likely benign|uncertain significance |
| NM_012448.4(STAT5B):c.424_427del (p.Leu142fs) |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001937990] |
Chr17:42223505..42223508 [GRCh38]
Chr17:40375523..40375526 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.1072G>A (p.Gly358Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002036088] |
Chr17:42218248 [GRCh38]
Chr17:40370266 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.563C>T (p.Pro188Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002035011] |
Chr17:42219830 [GRCh38]
Chr17:40371848 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.560G>C (p.Gly187Ala) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001905562] |
Chr17:42219833 [GRCh38]
Chr17:40371851 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1975C>T (p.Arg659Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001924666] |
Chr17:42207660 [GRCh38]
Chr17:40359678 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2234A>T (p.Gln745Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002019013] |
Chr17:42202343 [GRCh38]
Chr17:40354361 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1883C>G (p.Thr628Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001867079] |
Chr17:42210194 [GRCh38]
Chr17:40362212 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1681-5A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001882934] |
Chr17:42210502 [GRCh38]
Chr17:40362520 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.435C>G (p.Asn145Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001922810] |
Chr17:42223497 [GRCh38]
Chr17:40375515 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.500A>C (p.Gln167Pro) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV001919678] |
Chr17:42223432 [GRCh38]
Chr17:40375450 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.197A>G (p.Gln66Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002026626] |
Chr17:42227617 [GRCh38]
Chr17:40379635 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.376-4C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002129920] |
Chr17:42223560 [GRCh38]
Chr17:40375578 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.204G>A (p.Leu68=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002205567] |
Chr17:42227610 [GRCh38]
Chr17:40379628 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.551-11C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002189161] |
Chr17:42219853 [GRCh38]
Chr17:40371871 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1155C>T (p.Asn385=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002107693] |
Chr17:42218165 [GRCh38]
Chr17:40370183 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2130-12T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002072631] |
Chr17:42202459 [GRCh38]
Chr17:40354477 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.180C>G (p.Leu60=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002111125] |
Chr17:42227634 [GRCh38]
Chr17:40379652 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2115G>A (p.Lys705=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002112657] |
Chr17:42202771 [GRCh38]
Chr17:40354789 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.551-20T>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002125250] |
Chr17:42219862 [GRCh38]
Chr17:40371880 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2130-10C>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002210229] |
Chr17:42202457 [GRCh38]
Chr17:40354475 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2221A>T (p.Asn741Tyr) |
single nucleotide variant |
not provided [RCV002223713] |
Chr17:42202356 [GRCh38]
Chr17:40354374 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1242C>A (p.Ala414=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002104979] |
Chr17:42217392 [GRCh38]
Chr17:40369410 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1247T>G (p.Phe416Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003101275]|not provided [RCV002224661] |
Chr17:42217387 [GRCh38]
Chr17:40369405 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2148A>T (p.Ala716=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002105771] |
Chr17:42202429 [GRCh38]
Chr17:40354447 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.551-12C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002084763] |
Chr17:42219854 [GRCh38]
Chr17:40371872 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2077+13G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002206417] |
Chr17:42207545 [GRCh38]
Chr17:40359563 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1419C>T (p.Ser473=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002087245] |
Chr17:42216068 [GRCh38]
Chr17:40368086 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1189T>C (p.Leu397=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002075557] |
Chr17:42217445 [GRCh38]
Chr17:40369463 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2237+16G>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002190211] |
Chr17:42202324 [GRCh38]
Chr17:40354342 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1363C>T (p.Leu455=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002088326] |
Chr17:42217177 [GRCh38]
Chr17:40369195 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2139C>T (p.Asn713=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002211581] |
Chr17:42202438 [GRCh38]
Chr17:40354456 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.550+11G>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002195336] |
Chr17:42223371 [GRCh38]
Chr17:40375389 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2121G>A (p.Val707=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002212803] |
Chr17:42202765 [GRCh38]
Chr17:40354783 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1380+17G>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002212804] |
Chr17:42217143 [GRCh38]
Chr17:40369161 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2142A>G (p.Ala714=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002194484] |
Chr17:42202435 [GRCh38]
Chr17:40354453 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2078-18A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002110770] |
Chr17:42202826 [GRCh38]
Chr17:40354844 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1473+15C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002172962] |
Chr17:42215999 [GRCh38]
Chr17:40368017 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1656T>C (p.Ser552=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002115466] |
Chr17:42212008 [GRCh38]
Chr17:40364026 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.322T>A (p.Cys108Ser) |
single nucleotide variant |
not provided [RCV002211399] |
Chr17:42224832 [GRCh38]
Chr17:40376850 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.376-8G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002153058] |
Chr17:42223564 [GRCh38]
Chr17:40375582 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2061C>T (p.Pro687=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002171950] |
Chr17:42207574 [GRCh38]
Chr17:40359592 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.90G>A (p.Val30=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002179055] |
Chr17:42232038 [GRCh38]
Chr17:40384056 [GRCh37]
Chr17:17q21.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_012448.4(STAT5B):c.72G>A (p.Gln24=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002155076] |
Chr17:42232056 [GRCh38]
Chr17:40384074 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.550+8G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002101004] |
Chr17:42223374 [GRCh38]
Chr17:40375392 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1176C>T (p.Tyr392=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002140834] |
Chr17:42217458 [GRCh38]
Chr17:40369476 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.441G>A (p.Thr147=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002120048] |
Chr17:42223491 [GRCh38]
Chr17:40375509 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2013T>C (p.Pro671=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002164605] |
Chr17:42207622 [GRCh38]
Chr17:40359640 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003774644]|not specified [RCV002222871] |
Chr17:42202399 [GRCh38]
Chr17:40354417 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1437G>A (p.Thr479=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002103213] |
Chr17:42216050 [GRCh38]
Chr17:40368068 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NC_000017.10:g.(?_40371710)_(40371880_?)del |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003116607] |
Chr17:40371710..40371880 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NC_000017.10:g.(?_40353756)_(40354846_?)del |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003116608] |
Chr17:40353756..40354846 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NC_000017.10:g.(?_40376777)_(40575115_?)dup |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003116609]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003116610] |
Chr17:40376777..40575115 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.285+7G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003121194] |
Chr17:42227522 [GRCh38]
Chr17:40379540 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1570G>T (p.Gly524Cys) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV002291179] |
Chr17:42212094 [GRCh38]
Chr17:40364112 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1012C>T (p.Pro338Ser) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV003153107] |
Chr17:42218308 [GRCh38]
Chr17:40370326 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2248G>C (p.Val750Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002303840] |
Chr17:42201854 [GRCh38]
Chr17:40353872 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2275C>G (p.Leu759Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002298216] |
Chr17:42201827 [GRCh38]
Chr17:40353845 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2195C>A (p.Pro732Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002297908] |
Chr17:42202382 [GRCh38]
Chr17:40354400 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.334A>T (p.Ile112Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002295050] |
Chr17:42224820 [GRCh38]
Chr17:40376838 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1491C>G (p.Ala497=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002614742] |
Chr17:42212173 [GRCh38]
Chr17:40364191 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1380+16A>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003014754] |
Chr17:42217144 [GRCh38]
Chr17:40369162 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1257+12A>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002880430] |
Chr17:42217365 [GRCh38]
Chr17:40369383 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1381-14T>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002776350] |
Chr17:42216120 [GRCh38]
Chr17:40368138 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.286-7C>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002863080] |
Chr17:42224875 [GRCh38]
Chr17:40376893 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1821C>G (p.Leu607=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002816601] |
Chr17:42210256 [GRCh38]
Chr17:40362274 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1645A>G (p.Ser549Gly) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002756340] |
Chr17:42212019 [GRCh38]
Chr17:40364037 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2334C>T (p.Asp778=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002995166]|STAT5B-related disorder [RCV004756454] |
Chr17:42201768 [GRCh38]
Chr17:40353786 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1875C>T (p.Gly625=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002862905] |
Chr17:42210202 [GRCh38]
Chr17:40362220 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1057C>T (p.Arg353Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002591816]|Inborn genetic diseases [RCV002615067] |
Chr17:42218263 [GRCh38]
Chr17:40370281 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1053T>C (p.Thr351=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002947296] |
Chr17:42218267 [GRCh38]
Chr17:40370285 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1749del (p.Lys583fs) |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003054595] |
Chr17:42210429 [GRCh38]
Chr17:40362447 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.1258-16T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003079979] |
Chr17:42217298 [GRCh38]
Chr17:40369316 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2226G>A (p.Met742Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003002958] |
Chr17:42202351 [GRCh38]
Chr17:40354369 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1716A>G (p.Gln572=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002593021] |
Chr17:42210462 [GRCh38]
Chr17:40362480 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1307C>G (p.Thr436Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003021732] |
Chr17:42217233 [GRCh38]
Chr17:40369251 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1056G>A (p.Val352=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002910095] |
Chr17:42218264 [GRCh38]
Chr17:40370282 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2265G>A (p.Gly755=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002781551] |
Chr17:42201837 [GRCh38]
Chr17:40353855 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1170-17C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002843998] |
Chr17:42217481 [GRCh38]
Chr17:40369499 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1170-3C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002695041] |
Chr17:42217467 [GRCh38]
Chr17:40369485 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2017C>T (p.Arg673Trp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002926818] |
Chr17:42207618 [GRCh38]
Chr17:40359636 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2314C>T (p.Leu772Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002571035] |
Chr17:42201788 [GRCh38]
Chr17:40353806 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.990-11G>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002953172] |
Chr17:42218341 [GRCh38]
Chr17:40370359 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1156G>A (p.Glu386Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002569853] |
Chr17:42218164 [GRCh38]
Chr17:40370182 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.480T>C (p.Asn160=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003077231] |
Chr17:42223452 [GRCh38]
Chr17:40375470 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1155C>G (p.Asn385Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003054707] |
Chr17:42218165 [GRCh38]
Chr17:40370183 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.177G>C (p.Gln59His) |
single nucleotide variant |
Inborn genetic diseases [RCV002886786] |
Chr17:42227637 [GRCh38]
Chr17:40379655 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2297C>T (p.Ala766Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002761716] |
Chr17:42201805 [GRCh38]
Chr17:40353823 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1942A>G (p.Thr648Ala) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002948355] |
Chr17:42207693 [GRCh38]
Chr17:40359711 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1823T>C (p.Ile608Thr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002745751] |
Chr17:42210254 [GRCh38]
Chr17:40362272 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.16C>T (p.Gln6Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002830220] |
Chr17:42232112 [GRCh38]
Chr17:40384130 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.291G>A (p.Thr97=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002595173] |
Chr17:42224863 [GRCh38]
Chr17:40376881 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002572769] |
Chr17:42218220 [GRCh38]
Chr17:40370238 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1590C>T (p.Leu530=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002594368] |
Chr17:42212074 [GRCh38]
Chr17:40364092 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1443T>C (p.Thr481=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002853435] |
Chr17:42216044 [GRCh38]
Chr17:40368062 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2355A>C (p.Ala785=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003025043] |
Chr17:42201747 [GRCh38]
Chr17:40353765 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.431T>A (p.Ile144Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002850954] |
Chr17:42223501 [GRCh38]
Chr17:40375519 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.98A>G (p.Tyr33Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003043917] |
Chr17:42232030 [GRCh38]
Chr17:40384048 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1474-14TC[2] |
microsatellite |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002630213] |
Chr17:42212199..42212200 [GRCh38]
Chr17:40364217..40364218 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1473+18G>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002601945] |
Chr17:42215996 [GRCh38]
Chr17:40368014 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.195G>A (p.Val65=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003048729]|not specified [RCV004700905] |
Chr17:42227619 [GRCh38]
Chr17:40379637 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.415C>T (p.Gln139Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002811147] |
Chr17:42223517 [GRCh38]
Chr17:40375535 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.270T>C (p.Tyr90=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002632652] |
Chr17:42227544 [GRCh38]
Chr17:40379562 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1365G>T (p.Leu455=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002647787] |
Chr17:42217175 [GRCh38]
Chr17:40369193 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1498G>A (p.Asp500Asn) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002792070] |
Chr17:42212166 [GRCh38]
Chr17:40364184 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.423C>T (p.His141=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003029490] |
Chr17:42223509 [GRCh38]
Chr17:40375527 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2310G>A (p.Glu770=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002746564] |
Chr17:42201792 [GRCh38]
Chr17:40353810 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2130-13C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002602549] |
Chr17:42202460 [GRCh38]
Chr17:40354478 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.285G>A (p.Gln95=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003031323] |
Chr17:42227529 [GRCh38]
Chr17:40379547 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2302C>T (p.Arg768Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003045966] |
Chr17:42201800 [GRCh38]
Chr17:40353818 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.290C>T (p.Thr97Met) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002944131] |
Chr17:42224864 [GRCh38]
Chr17:40376882 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1530G>A (p.Ala510=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003093379] |
Chr17:42212134 [GRCh38]
Chr17:40364152 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.550+20C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003049478] |
Chr17:42223362 [GRCh38]
Chr17:40375380 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2172G>A (p.Thr724=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002582516] |
Chr17:42202405 [GRCh38]
Chr17:40354423 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.376-12A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002606503] |
Chr17:42223568 [GRCh38]
Chr17:40375586 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1638G>A (p.Glu546=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002586868] |
Chr17:42212026 [GRCh38]
Chr17:40364044 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.465G>A (p.Thr155=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV002680774] |
Chr17:42223467 [GRCh38]
Chr17:40375485 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.863A>T (p.Gln288Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003228181] |
Chr17:42218849 [GRCh38]
Chr17:40370867 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1896G>T (p.Lys632Asn) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV003158006] |
Chr17:42210181 [GRCh38]
Chr17:40362199 [GRCh37]
Chr17:17q21.2 |
likely pathogenic |
| NM_012448.4(STAT5B):c.2171C>T (p.Thr724Met) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV003320425]|Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505333] |
Chr17:42202406 [GRCh38]
Chr17:40354424 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant [RCV003337729] |
Chr17:42219340 [GRCh38]
Chr17:40371358 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1602G>A (p.Ala534=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506286] |
Chr17:42212062 [GRCh38]
Chr17:40364080 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2316C>T (p.Leu772=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505473] |
Chr17:42201786 [GRCh38]
Chr17:40353804 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1474-15C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505782] |
Chr17:42212205 [GRCh38]
Chr17:40364223 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1095C>T (p.Asn365=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506195] |
Chr17:42218225 [GRCh38]
Chr17:40370243 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.46C>T (p.His16Tyr) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504672] |
Chr17:42232082 [GRCh38]
Chr17:40384100 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1263G>A (p.Leu421=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505864] |
Chr17:42217277 [GRCh38]
Chr17:40369295 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.443T>C (p.Phe148Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504932] |
Chr17:42223489 [GRCh38]
Chr17:40375507 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2085T>C (p.Ala695=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505833] |
Chr17:42202801 [GRCh38]
Chr17:40354819 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.417G>A (p.Gln139=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505888] |
Chr17:42223515 [GRCh38]
Chr17:40375533 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.81C>T (p.Pro27=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505892] |
Chr17:42232047 [GRCh38]
Chr17:40384065 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2203T>C (p.Cys735Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504605] |
Chr17:42202374 [GRCh38]
Chr17:40354392 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1681-4C>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506179] |
Chr17:42210501 [GRCh38]
Chr17:40362519 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.128+15A>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505931] |
Chr17:42231985 [GRCh38]
Chr17:40384003 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1095C>G (p.Asn365Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504714] |
Chr17:42218225 [GRCh38]
Chr17:40370243 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1473+7G>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504761] |
Chr17:42216007 [GRCh38]
Chr17:40368025 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2209C>T (p.Gln737Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505668] |
Chr17:42202368 [GRCh38]
Chr17:40354386 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2159G>T (p.Gly720Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504867] |
Chr17:42202418 [GRCh38]
Chr17:40354436 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.448G>A (p.Glu150Lys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003504673] |
Chr17:42223484 [GRCh38]
Chr17:40375502 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1449C>G (p.Leu483=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505688] |
Chr17:42216038 [GRCh38]
Chr17:40368056 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.231G>A (p.Gly77=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506060] |
Chr17:42227583 [GRCh38]
Chr17:40379601 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1464T>G (p.Phe488Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505424] |
Chr17:42216023 [GRCh38]
Chr17:40368041 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1424A>T (p.Asp475Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003505430] |
Chr17:42216063 [GRCh38]
Chr17:40368081 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1454A>G (p.Asp485Gly) |
single nucleotide variant |
not provided [RCV003428278] |
Chr17:42216033 [GRCh38]
Chr17:40368051 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.173C>T (p.Thr58Ile) |
single nucleotide variant |
not provided [RCV003413234] |
Chr17:42227641 [GRCh38]
Chr17:40379659 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.525G>A (p.Gln175=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506518] |
Chr17:42223407 [GRCh38]
Chr17:40375425 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.376-17C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506519] |
Chr17:42223573 [GRCh38]
Chr17:40375591 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2208C>T (p.Pro736=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003877833] |
Chr17:42202369 [GRCh38]
Chr17:40354387 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1656T>G (p.Ser552=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506376] |
Chr17:42212008 [GRCh38]
Chr17:40364026 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.89_90dup (p.Arg31fs) |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506657] |
Chr17:42232037..42232038 [GRCh38]
Chr17:40384055..40384056 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.681+4A>G |
single nucleotide variant |
not specified [RCV003489698] |
Chr17:42219708 [GRCh38]
Chr17:40371726 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.802C>T (p.Pro268Ser) |
single nucleotide variant |
not specified [RCV003489785] |
Chr17:42219343 [GRCh38]
Chr17:40371361 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2172G>C (p.Thr724=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003826846] |
Chr17:42202405 [GRCh38]
Chr17:40354423 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2078-9C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506365]|STAT5B-related disorder [RCV003939104] |
Chr17:42202817 [GRCh38]
Chr17:40354835 [GRCh37]
Chr17:17q21.2 |
benign|likely benign |
| NM_012448.4(STAT5B):c.2160C>T (p.Gly720=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003878858] |
Chr17:42202417 [GRCh38]
Chr17:40354435 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.424C>T (p.Leu142Phe) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003506382] |
Chr17:42223508 [GRCh38]
Chr17:40375526 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1502A>G (p.Lys501Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615149] |
Chr17:42212162 [GRCh38]
Chr17:40364180 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1098C>T (p.Pro366=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615180] |
Chr17:42218222 [GRCh38]
Chr17:40370240 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1474-9C>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613677] |
Chr17:42212199 [GRCh38]
Chr17:40364217 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1605G>T (p.Gln535His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614463] |
Chr17:42212059 [GRCh38]
Chr17:40364077 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.273C>T (p.Ala91=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614497] |
Chr17:42227541 [GRCh38]
Chr17:40379559 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1851G>A (p.Leu617=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613741] |
Chr17:42210226 [GRCh38]
Chr17:40362244 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1213_1229del (p.Tyr405fs) |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614555] |
Chr17:42217405..42217421 [GRCh38]
Chr17:40369423..40369439 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.2130-5T>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613996] |
Chr17:42202452 [GRCh38]
Chr17:40354470 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1381-17C>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615496] |
Chr17:42216123 [GRCh38]
Chr17:40368141 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2224A>G (p.Met742Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003833413] |
Chr17:42202353 [GRCh38]
Chr17:40354371 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.303C>A (p.Cys101Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614753] |
Chr17:42224851 [GRCh38]
Chr17:40376869 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.286-8T>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614802] |
Chr17:42224876 [GRCh38]
Chr17:40376894 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2157G>A (p.Gly719=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614921] |
Chr17:42202420 [GRCh38]
Chr17:40354438 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.376-18C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003852046] |
Chr17:42223574 [GRCh38]
Chr17:40375592 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.450G>A (p.Glu150=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614346] |
Chr17:42223482 [GRCh38]
Chr17:40375500 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1906C>T (p.Gln636Ter) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614997] |
Chr17:42210171 [GRCh38]
Chr17:40362189 [GRCh37]
Chr17:17q21.2 |
pathogenic |
| NM_012448.4(STAT5B):c.1248C>T (p.Phe416=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613603] |
Chr17:42217386 [GRCh38]
Chr17:40369404 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2333A>G (p.Asp778Gly) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615066] |
Chr17:42201769 [GRCh38]
Chr17:40353787 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2056G>A (p.Val686Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615108] |
Chr17:42207579 [GRCh38]
Chr17:40359597 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.20C>T (p.Ala7Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613825] |
Chr17:42232108 [GRCh38]
Chr17:40384126 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.285+6_285+11del |
deletion |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613850] |
Chr17:42227518..42227523 [GRCh38]
Chr17:40379536..40379541 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2262T>C (p.Asp754=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614281] |
Chr17:42201840 [GRCh38]
Chr17:40353858 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1258-8_1258-6del |
microsatellite |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614547] |
Chr17:42217288..42217290 [GRCh38]
Chr17:40369306..40369308 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2340G>A (p.Gln780=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613586] |
Chr17:42201762 [GRCh38]
Chr17:40353780 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2166C>T (p.Ser722=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615109] |
Chr17:42202411 [GRCh38]
Chr17:40354429 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1326C>T (p.Ile442=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613720] |
Chr17:42217214 [GRCh38]
Chr17:40369232 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1380+6G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615503] |
Chr17:42217154 [GRCh38]
Chr17:40369172 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.135A>G (p.Ser45=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615284]|not specified [RCV004701811] |
Chr17:42227679 [GRCh38]
Chr17:40379697 [GRCh37]
Chr17:17q21.2 |
likely benign|uncertain significance |
| NM_012448.4(STAT5B):c.1182C>T (p.Gly394=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615467] |
Chr17:42217452 [GRCh38]
Chr17:40369470 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1169+16C>T |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003833414] |
Chr17:42218135 [GRCh38]
Chr17:40370153 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.550+14G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003839301] |
Chr17:42223368 [GRCh38]
Chr17:40375386 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1284C>T (p.Asp428=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614283] |
Chr17:42217256 [GRCh38]
Chr17:40369274 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.48T>G (p.His16Gln) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614907] |
Chr17:42232080 [GRCh38]
Chr17:40384098 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.379A>T (p.Ser127Cys) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614946] |
Chr17:42223553 [GRCh38]
Chr17:40375571 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.376-10A>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615001] |
Chr17:42223566 [GRCh38]
Chr17:40375584 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.376-10A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003811539] |
Chr17:42223566 [GRCh38]
Chr17:40375584 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1728T>C (p.Gly576=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615113] |
Chr17:42210450 [GRCh38]
Chr17:40362468 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2147C>T (p.Ala716Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613747] |
Chr17:42202430 [GRCh38]
Chr17:40354448 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1257+11A>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615456] |
Chr17:42217366 [GRCh38]
Chr17:40369384 [GRCh37]
Chr17:17q21.2 |
benign |
| NM_012448.4(STAT5B):c.192G>C (p.Leu64=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613854] |
Chr17:42227622 [GRCh38]
Chr17:40379640 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1257+19G>A |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614449] |
Chr17:42217358 [GRCh38]
Chr17:40369376 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.112A>C (p.Ile38Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613945] |
Chr17:42232016 [GRCh38]
Chr17:40384034 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2243A>T (p.Asp748Val) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614700] |
Chr17:42201859 [GRCh38]
Chr17:40353877 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1907-15T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003614553] |
Chr17:42207743 [GRCh38]
Chr17:40359761 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1302G>A (p.Ser434=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003613899] |
Chr17:42217238 [GRCh38]
Chr17:40369256 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.155A>T (p.Gln52Leu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615423] |
Chr17:42227659 [GRCh38]
Chr17:40379677 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615377] |
Chr17:42216105 [GRCh38]
Chr17:40368123 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1515A>G (p.Pro505=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615451] |
Chr17:42212149 [GRCh38]
Chr17:40364167 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2299C>T (p.Arg767Trp) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615369] |
Chr17:42201803 [GRCh38]
Chr17:40353821 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1690C>T (p.Pro564Ser) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003833535] |
Chr17:42210488 [GRCh38]
Chr17:40362506 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1976G>A (p.Arg659His) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003615520] |
Chr17:42207659 [GRCh38]
Chr17:40359677 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2079T>G (p.Ala693=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003832177] |
Chr17:42202807 [GRCh38]
Chr17:40354825 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.2154C>G (p.Ala718=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003858646] |
Chr17:42202423 [GRCh38]
Chr17:40354441 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.436C>G (p.Gln146Glu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003857067]|not specified [RCV004527012] |
Chr17:42223496 [GRCh38]
Chr17:40375514 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.59C>A (p.Ala20Glu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003822328] |
Chr17:42232069 [GRCh38]
Chr17:40384087 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1681-15T>C |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003865233] |
Chr17:42210512 [GRCh38]
Chr17:40362530 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1407C>T (p.Ile469=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003872174] |
Chr17:42216080 [GRCh38]
Chr17:40368098 [GRCh37]
Chr17:17q21.2 |
likely benign |
| GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3 |
copy number gain |
not specified [RCV003987235] |
Chr17:39705863..40358580 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.228G>C (p.Val76=) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003870116] |
Chr17:42227586 [GRCh38]
Chr17:40379604 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.530A>G (p.Gln177Arg) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003857524]|Inborn genetic diseases [RCV004369511] |
Chr17:42223402 [GRCh38]
Chr17:40375420 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1681-2A>G |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003818554] |
Chr17:42210499 [GRCh38]
Chr17:40362517 [GRCh37]
Chr17:17q21.2 |
likely pathogenic |
| NM_012448.4(STAT5B):c.834-18C>T |
single nucleotide variant |
not specified [RCV003988374] |
Chr17:42218896 [GRCh38]
Chr17:40370914 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1430A>G (p.Asn477Ser) |
single nucleotide variant |
STAT5B-related disorder [RCV003983509] |
Chr17:42216057 [GRCh38]
Chr17:40368075 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| GRCh37/hg19 17q21.2(chr17:40371730-40371860)x1 |
copy number loss |
not provided [RCV003993501] |
Chr17:40371730..40371860 [GRCh37]
Chr17:17q21.2 |
likely pathogenic |
| NM_012448.4(STAT5B):c.670C>G (p.Gln224Glu) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003990197] |
Chr17:42219723 [GRCh38]
Chr17:40371741 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1474-2_1474delinsT |
indel |
not provided [RCV003993493] |
Chr17:42212190..42212192 [GRCh38]
Chr17:40364208..40364210 [GRCh37]
Chr17:17q21.2 |
likely pathogenic |
| NM_012448.4(STAT5B):c.1788G>A (p.Gly596=) |
single nucleotide variant |
STAT5B-related disorder [RCV003947161] |
Chr17:42210289 [GRCh38]
Chr17:40362307 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.1305G>A (p.Val435=) |
single nucleotide variant |
STAT5B-related disorder [RCV003894577] |
Chr17:42217235 [GRCh38]
Chr17:40369253 [GRCh37]
Chr17:17q21.2 |
likely benign |
| NM_012448.4(STAT5B):c.361C>G (p.Arg121Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004465524] |
Chr17:42224793 [GRCh38]
Chr17:40376811 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.469G>T (p.Asp157Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004465526] |
Chr17:42223463 [GRCh38]
Chr17:40375481 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1696C>T (p.Arg566Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004465523] |
Chr17:42210482 [GRCh38]
Chr17:40362500 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.381C>G (p.Ser127Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004465525] |
Chr17:42223551 [GRCh38]
Chr17:40375569 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NC_000017.10:g.(?_40353756)_(40384145_?)dup |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV004581290] |
Chr17:40353756..40384145 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.1760C>T (p.Pro587Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004681640] |
Chr17:42210418 [GRCh38]
Chr17:40362436 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.362G>C (p.Arg121Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004681641] |
Chr17:42224792 [GRCh38]
Chr17:40376810 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.182T>C (p.Leu61Pro) |
single nucleotide variant |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV004764747] |
Chr17:42227632 [GRCh38]
Chr17:40379650 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.823C>T (p.Leu275=) |
single nucleotide variant |
not provided [RCV004773382] |
Chr17:42219322 [GRCh38]
Chr17:40371340 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.220C>A (p.His74Asn) |
single nucleotide variant |
not provided [RCV004773848] |
Chr17:42227594 [GRCh38]
Chr17:40379612 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.286A>C (p.Asn96His) |
single nucleotide variant |
STAT5B-related disorder [RCV004756645] |
Chr17:42224868 [GRCh38]
Chr17:40376886 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| NM_012448.4(STAT5B):c.2093G>T (p.Gly698Val) |
single nucleotide variant |
not provided [RCV004725777] |
Chr17:42202793 [GRCh38]
Chr17:40354811 [GRCh37]
Chr17:17q21.2 |
uncertain significance |
| GRCh37/hg19 17q12-22(chr17:41196270-41277589) |
copy number loss |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] |
Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22 |
pathogenic |
