NM_024077.5(SECISBP2):c.1619G>A (p.Arg540Gln) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV000003053] |
Chr9:89348095 [GRCh38] Chr9:91963010 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.1312A>T (p.Lys438Ter) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV000003054] |
Chr9:89341356 [GRCh38] Chr9:91956271 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.1212+29G>A |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV000003055] |
Chr9:89338609 [GRCh38] Chr9:91953524 [GRCh37] Chr9:9q22.2 |
pathogenic |
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37] Chr9:9q21.11-34.3 |
likely pathogenic |
NM_024077.5(SECISBP2):c.283del (p.Tyr95fs) |
deletion |
not provided [RCV000522682] |
Chr9:89325526 [GRCh38] Chr9:91940441 [GRCh37] Chr9:9q22.2 |
likely pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.33-22.2(chr9:87418580-90406012)x1 |
copy number loss |
See cases [RCV000050968] |
Chr9:87418580..90406012 [GRCh38] Chr9:90033495..93168294 [GRCh37] Chr9:89223315..92208114 [NCBI36] Chr9:9q21.33-22.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38] Chr9:214367..141008915 [GRCh37] Chr9:204367..140128736 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38] Chr9:266045..141073897 [GRCh37] Chr9:256045..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38] Chr9:204193..141018984 [GRCh37] Chr9:194193..140138805 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 |
copy number gain |
See cases [RCV000053752] |
Chr9:88522292..113687796 [GRCh38] Chr9:91137207..116450076 [GRCh37] Chr9:90327027..115489897 [NCBI36] Chr9:9q22.1-32 |
pathogenic |
NM_024077.4(SECISBP2):c.1373C>T (p.Ala458Val) |
single nucleotide variant |
Malignant melanoma [RCV000068739] |
Chr9:89341417 [GRCh38] Chr9:91956332 [GRCh37] Chr9:91146152 [NCBI36] Chr9:9q22.2 |
not provided |
NM_024077.4(SECISBP2):c.1822G>A (p.Asp608Asn) |
single nucleotide variant |
Malignant melanoma [RCV000061971] |
Chr9:89349859 [GRCh38] Chr9:91964774 [GRCh37] Chr9:91154594 [NCBI36] Chr9:9q22.2 |
not provided |
NM_024077.5(SECISBP2):c.2391dup (p.Thr798fs) |
duplication |
Thyroid hormone metabolism, abnormal [RCV001294134] |
Chr9:89358118..89358119 [GRCh38] Chr9:91973033..91973034 [GRCh37] Chr9:9q22.2 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 |
copy number gain |
See cases [RCV000136788] |
Chr9:68420430..106579493 [GRCh38] Chr9:71130848..109341774 [GRCh37] Chr9:70225166..108381595 [NCBI36] Chr9:9q21.11-31.2 |
pathogenic |
GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)x1 |
copy number loss |
See cases [RCV000137602] |
Chr9:86079851..91827221 [GRCh38] Chr9:88694766..94589503 [GRCh37] Chr9:87884586..93629324 [NCBI36] Chr9:9q21.33-22.31 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38] Chr9:204090..141018976 [GRCh37] Chr9:194090..140138797 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38] Chr9:68420641..141053525 [GRCh37] Chr9:67910461..140173346 [NCBI36] Chr9:9p11.2-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38] Chr9:204104..141053525 [GRCh37] Chr9:194104..140173346 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 |
copy number gain |
See cases [RCV000139789] |
Chr9:69627642..111454304 [GRCh38] Chr9:72242558..114216584 [GRCh37] Chr9:71432378..113256405 [NCBI36] Chr9:9q21.12-31.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38] Chr9:203861..141020389 [GRCh37] Chr9:193861..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38] Chr9:203862..141020389 [GRCh37] Chr9:193862..140140210 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38] Chr9:204193..141073897 [GRCh37] Chr9:194193..140193718 [NCBI36] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_024077.5(SECISBP2):c.2351T>A (p.Leu784Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003243809] |
Chr9:89358081 [GRCh38] Chr9:91972996 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.589C>T (p.Arg197Ter) |
single nucleotide variant |
not provided [RCV000521810] |
Chr9:89328674 [GRCh38] Chr9:91943589 [GRCh37] Chr9:9q22.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_024077.5(SECISBP2):c.1612A>G (p.Lys538Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003282404] |
Chr9:89348088 [GRCh38] Chr9:91963003 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1829A>G (p.Glu610Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003240416] |
Chr9:89349866 [GRCh38] Chr9:91964781 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.2342A>G (p.Gln781Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003252513] |
Chr9:89358072 [GRCh38] Chr9:91972987 [GRCh37] Chr9:9q22.2 |
likely benign |
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9q22.2(chr9:91832842-91971591)x1 |
copy number loss |
not provided [RCV000683084] |
Chr9:91832842..91971591 [GRCh37] Chr9:9q22.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_024077.5(SECISBP2):c.1275G>A (p.Pro425=) |
single nucleotide variant |
not provided [RCV000877547] |
Chr9:89339926 [GRCh38] Chr9:91954841 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.1388A>G (p.Gln463Arg) |
single nucleotide variant |
not provided [RCV000877915] |
Chr9:89341432 [GRCh38] Chr9:91956347 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.1386G>A (p.Lys462=) |
single nucleotide variant |
not provided [RCV000951027] |
Chr9:89341430 [GRCh38] Chr9:91956345 [GRCh37] Chr9:9q22.2 |
likely benign |
GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274) |
copy number gain |
not provided [RCV000767645] |
Chr9:79520825..97201274 [GRCh37] Chr9:9q21.2-22.32 |
pathogenic |
NM_024077.5(SECISBP2):c.422C>T (p.Ala141Val) |
single nucleotide variant |
not provided [RCV000876399] |
Chr9:89325666 [GRCh38] Chr9:91940581 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.2307C>T (p.Ala769=) |
single nucleotide variant |
not provided [RCV000980268] |
Chr9:89358037 [GRCh38] Chr9:91972952 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.2316G>A (p.Ala772=) |
single nucleotide variant |
not provided [RCV000873614] |
Chr9:89358046 [GRCh38] Chr9:91972961 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.53C>T (p.Ala18Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003271948] |
Chr9:89319668 [GRCh38] Chr9:91934583 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.800dup (p.Gly268_Glu269insTer) |
duplication |
Thyroid hormone metabolism, abnormal 1 [RCV000791253] |
Chr9:89328882..89328883 [GRCh38] Chr9:91943797..91943798 [GRCh37] Chr9:9q22.2 |
pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_024077.5(SECISBP2):c.1475G>T (p.Gly492Val) |
single nucleotide variant |
not provided [RCV000874008] |
Chr9:89346921 [GRCh38] Chr9:91961836 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.699G>A (p.Met233Ile) |
single nucleotide variant |
not provided [RCV000876121] |
Chr9:89328784 [GRCh38] Chr9:91943699 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.1738+7A>C |
single nucleotide variant |
not provided [RCV000876400] |
Chr9:89348221 [GRCh38] Chr9:91963136 [GRCh37] Chr9:9q22.2 |
benign |
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37] Chr9:9q21.11-34.3 |
pathogenic |
GRCh37/hg19 9q22.2(chr9:91913589-92052894)x3 |
copy number gain |
not provided [RCV000849588] |
Chr9:91913589..92052894 [GRCh37] Chr9:9q22.2 |
uncertain significance |
GRCh37/hg19 9q21.33-22.31(chr9:90002910-94567835)x3 |
copy number gain |
not provided [RCV001006243] |
Chr9:90002910..94567835 [GRCh37] Chr9:9q21.33-22.31 |
likely pathogenic |
NM_024077.5(SECISBP2):c.730C>T (p.Pro244Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003292981] |
Chr9:89328815 [GRCh38] Chr9:91943730 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1960C>T (p.Arg654Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003252454] |
Chr9:89350699 [GRCh38] Chr9:91965614 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1580A>G (p.Lys527Arg) |
single nucleotide variant |
not provided [RCV000952449] |
Chr9:89347026 [GRCh38] Chr9:91961941 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.2462-8C>T |
single nucleotide variant |
not provided [RCV000874980] |
Chr9:89358713 [GRCh38] Chr9:91973628 [GRCh37] Chr9:9q22.2 |
likely benign |
GRCh37/hg19 9q22.2(chr9:91832842-91961259)x1 |
copy number loss |
not provided [RCV001006245] |
Chr9:91832842..91961259 [GRCh37] Chr9:9q22.2 |
uncertain significance |
GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)x1 |
copy number loss |
not provided [RCV001258443] |
Chr9:90031614..93173691 [GRCh37] Chr9:9q21.33-22.2 |
likely pathogenic |
NM_024077.5(SECISBP2):c.695A>G (p.Asn232Ser) |
single nucleotide variant |
not provided [RCV001355164] |
Chr9:89328780 [GRCh38] Chr9:91943695 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.182+1G>A |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV001449692] |
Chr9:89319798 [GRCh38] Chr9:91934713 [GRCh37] Chr9:9q22.2 |
likely pathogenic |
NM_024077.5(SECISBP2):c.2308C>T (p.Arg770Ter) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV002280006] |
Chr9:89358038 [GRCh38] Chr9:91972953 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.575-2A>C |
single nucleotide variant |
Thyroid hormone metabolism, abnormal [RCV001334176] |
Chr9:89328658 [GRCh38] Chr9:91943573 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.137C>G (p.Ser46Cys) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV001329310] |
Chr9:89319752 [GRCh38] Chr9:91934667 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1923G>A (p.Val641=) |
single nucleotide variant |
not provided [RCV001727933]|not specified [RCV001700849] |
Chr9:89350662 [GRCh38] Chr9:91965577 [GRCh37] Chr9:9q22.2 |
benign|likely benign |
NC_000009.11:g.12246100_101559378inv |
inversion |
Recurrent spontaneous abortion [RCV000999471] |
Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33 |
likely pathogenic |
NM_024077.5(SECISBP2):c.2195A>G (p.Lys732Arg) |
single nucleotide variant |
not provided [RCV001727479] |
Chr9:89357492 [GRCh38] Chr9:91972407 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.358C>T (p.Arg120Ter) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV001784955] |
Chr9:89325602 [GRCh38] Chr9:91940517 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_001371202.1(SEMA4D):c.1883-64C>T |
single nucleotide variant |
not provided [RCV001769926] |
Chr9:89363849 [GRCh38] Chr9:91978764 [GRCh37] Chr9:9q22.2 |
likely benign |
GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)x1 |
copy number loss |
See cases [RCV003329413] |
Chr9:90342469..93657932 [GRCh37] Chr9:9q21.33-22.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) |
copy number gain |
not specified [RCV002053853] |
Chr9:71349994..122603410 [GRCh37] Chr9:9q21.11-33.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37] Chr9:9p24.3-q34.3 |
pathogenic |
NM_024077.5(SECISBP2):c.614T>C (p.Ile205Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003294782] |
Chr9:89328699 [GRCh38] Chr9:91943614 [GRCh37] Chr9:9q22.2 |
uncertain significance |
Single allele |
duplication |
not specified [RCV002286376] |
Chr9:89241202..90787598 [GRCh38] Chr9:9q22.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 |
copy number gain |
See cases [RCV002292402] |
Chr9:203861..131603223 [GRCh37] Chr9:9p24.3-q34.11 |
pathogenic |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) |
copy number loss |
Distal tetrasomy 15q [RCV002280776] |
Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
NM_024077.5(SECISBP2):c.119C>A (p.Ala40Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003280963] |
Chr9:89319734 [GRCh38] Chr9:91934649 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.625G>T (p.Val209Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002749624] |
Chr9:89328710 [GRCh38] Chr9:91943625 [GRCh37] Chr9:9q22.2 |
uncertain significance |
GRCh37/hg19 9q22.2(chr9:91832843-91971591)x1 |
copy number loss |
not provided [RCV002474603] |
Chr9:91832843..91971591 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.269A>G (p.Tyr90Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002684970] |
Chr9:89325513 [GRCh38] Chr9:91940428 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.19C>T (p.Arg7Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002969181] |
Chr9:89318595 [GRCh38] Chr9:91933510 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1756G>A (p.Glu586Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002883508] |
Chr9:89349793 [GRCh38] Chr9:91964708 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1414T>C (p.Ser472Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002816856] |
Chr9:89341458 [GRCh38] Chr9:91956373 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1274C>T (p.Pro425Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002754608] |
Chr9:89339925 [GRCh38] Chr9:91954840 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1844C>T (p.Ala615Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002734096] |
Chr9:89349881 [GRCh38] Chr9:91964796 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.347C>A (p.Pro116His) |
single nucleotide variant |
Inborn genetic diseases [RCV002865798] |
Chr9:89325591 [GRCh38] Chr9:91940506 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1588A>T (p.Thr530Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003001682] |
Chr9:89347034 [GRCh38] Chr9:91961949 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.160G>T (p.Val54Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002738864] |
Chr9:89319775 [GRCh38] Chr9:91934690 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.2099A>C (p.Lys700Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002875027] |
Chr9:89350838 [GRCh38] Chr9:91965753 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.533C>T (p.Ser178Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002940150] |
Chr9:89325997 [GRCh38] Chr9:91940912 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1545G>A (p.Met515Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002714418] |
Chr9:89346991 [GRCh38] Chr9:91961906 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1961G>A (p.Arg654His) |
single nucleotide variant |
Inborn genetic diseases [RCV002960148] |
Chr9:89350700 [GRCh38] Chr9:91965615 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1037C>T (p.Ser346Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002935189] |
Chr9:89334678 [GRCh38] Chr9:91949593 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.326C>G (p.Ser109Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003257436] |
Chr9:89325570 [GRCh38] Chr9:91940485 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.916C>G (p.Gln306Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003208181] |
Chr9:89334557 [GRCh38] Chr9:91949472 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1081A>C (p.Thr361Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003211036] |
Chr9:89334722 [GRCh38] Chr9:91949637 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.443A>G (p.Tyr148Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003198894] |
Chr9:89325907 [GRCh38] Chr9:91940822 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1775C>T (p.Ser592Leu) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV003136552] |
Chr9:89349812 [GRCh38] Chr9:91964727 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1676A>T (p.Asp559Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003210605] |
Chr9:89348152 [GRCh38] Chr9:91963067 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.860A>G (p.Asn287Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003194392] |
Chr9:89332966 [GRCh38] Chr9:91947881 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.1372G>A (p.Ala458Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003265386] |
Chr9:89341416 [GRCh38] Chr9:91956331 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.764T>C (p.Leu255Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003338361] |
Chr9:89328849 [GRCh38] Chr9:91943764 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.2320A>T (p.Lys774Ter) |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV003329212] |
Chr9:89358050 [GRCh38] Chr9:91972965 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1156_1159del (p.Glu386fs) |
microsatellite |
Thyroid hormone metabolism, abnormal 1 [RCV003331808] |
Chr9:89338517..89338520 [GRCh38] Chr9:91953432..91953435 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.1089+2T>C |
single nucleotide variant |
Thyroid hormone metabolism, abnormal 1 [RCV003333490] |
Chr9:89334732 [GRCh38] Chr9:91949647 [GRCh37] Chr9:9q22.2 |
pathogenic |
NM_024077.5(SECISBP2):c.182+3A>T |
single nucleotide variant |
SECISBP2-related condition [RCV003421178] |
Chr9:89319800 [GRCh38] Chr9:91934715 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1342G>T (p.Val448Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003353434] |
Chr9:89341386 [GRCh38] Chr9:91956301 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1456T>C (p.Ser486Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003383336] |
Chr9:89346902 [GRCh38] Chr9:91961817 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1972C>T (p.Arg658Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003361947] |
Chr9:89350711 [GRCh38] Chr9:91965626 [GRCh37] Chr9:9q22.2 |
uncertain significance |
NM_024077.5(SECISBP2):c.1167A>C (p.Thr389=) |
single nucleotide variant |
not provided [RCV003430125] |
Chr9:89338535 [GRCh38] Chr9:91953450 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.2113+1G>T |
single nucleotide variant |
SECISBP2-related condition [RCV003414478] |
Chr9:89350853 [GRCh38] Chr9:91965768 [GRCh37] Chr9:9q22.2 |
likely pathogenic |
NM_001142287.2(SEMA4D):c.1965C>T (p.Pro655=) |
single nucleotide variant |
SEMA4D-related condition [RCV003977280] |
Chr9:89363868 [GRCh38] Chr9:91978783 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.1512G>A (p.Pro504=) |
single nucleotide variant |
SECISBP2-related condition [RCV003912227] |
Chr9:89346958 [GRCh38] Chr9:91961873 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.1575G>A (p.Lys525=) |
single nucleotide variant |
SECISBP2-related condition [RCV003959337] |
Chr9:89347021 [GRCh38] Chr9:91961936 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.1218C>T (p.Ala406=) |
single nucleotide variant |
SECISBP2-related condition [RCV003899082] |
Chr9:89339869 [GRCh38] Chr9:91954784 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_024077.5(SECISBP2):c.564T>C (p.Ser188=) |
single nucleotide variant |
SECISBP2-related condition [RCV003937229] |
Chr9:89326028 [GRCh38] Chr9:91940943 [GRCh37] Chr9:9q22.2 |
likely benign |
NM_001142287.2(SEMA4D):c.2138G>A (p.Arg713Lys) |
single nucleotide variant |
SEMA4D-related condition [RCV003982332] |
Chr9:89363482 [GRCh38] Chr9:91978397 [GRCh37] Chr9:9q22.2 |
benign |
NM_024077.5(SECISBP2):c.1296G>A (p.Gln432=) |
single nucleotide variant |
SECISBP2-related condition [RCV003894671] |
Chr9:89339947 [GRCh38] Chr9:91954862 [GRCh37] Chr9:9q22.2 |
likely benign |