| 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 |
| 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 9q33.2-34.3(chr9:122792658-138124532)x3 |
copy number gain |
See cases [RCV000051040] |
Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 |
copy number loss |
See cases [RCV000052923] |
Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 |
copy number loss |
See cases [RCV000052934] |
Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11 |
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 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 9q33.2-34.3(chr9:121586837-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] |
Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
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 9q34.11(chr9:127919476-130079974)x3 |
copy number gain |
See cases [RCV000053777] |
Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.280G>C (p.Ala94Pro) |
single nucleotide variant |
not provided [RCV000087184] |
Chr9:128692667 [GRCh38]
Chr9:131454946 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| 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 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 |
copy number loss |
See cases [RCV000138126] |
Chr9:128610170..129368351 [GRCh38]
Chr9:131372449..132130630 [GRCh37]
Chr9:130412270..131170451 [NCBI36]
Chr9:9q34.11 |
uncertain significance |
| 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 9q34.11(chr9:128236347-128912067)x1 |
copy number loss |
See cases [RCV000138929] |
Chr9:128236347..128912067 [GRCh38]
Chr9:130998626..131674346 [GRCh37]
Chr9:130038447..130714167 [NCBI36]
Chr9:9q34.11 |
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 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_003011.4(SET):c.777dup (p.Asp260fs) |
duplication |
Dysgerminoma [RCV000505617] |
Chr9:128694007..128694008 [GRCh38]
Chr9:131456286..131456287 [GRCh37]
Chr9:9q34.11 |
other |
| 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 9q33.3-34.3(chr9:128652785-141044751)x3 |
copy number gain |
See cases [RCV000447080] |
Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 |
copy number loss |
See cases [RCV000445837] |
Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11 |
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 |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:131184326-131503894)x1 |
copy number loss |
not provided [RCV000509562] |
Chr9:131184326..131503894 [GRCh37]
Chr9:9q34.11 |
not provided |
| NM_003011.4(SET):c.701A>G (p.Glu234Gly) |
single nucleotide variant |
Hepatocellular carcinoma [RCV000505665] |
Chr9:128693933 [GRCh38]
Chr9:131456212 [GRCh37]
Chr9:9q34.11 |
other |
| NM_003011.4(SET):c.142C>G (p.Gln48Glu) |
single nucleotide variant |
not provided [RCV003312741] |
Chr9:128691868 [GRCh38]
Chr9:131454147 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.130_133del (p.Arg44fs) |
deletion |
Global developmental delay [RCV001526660]|Inborn genetic diseases [RCV000622364]|Intellectual disability [RCV003106006]|Intellectual disability, autosomal dominant 58 [RCV000678248]|SET-Related Disorder [RCV003325969]|not provided [RCV001008142] |
Chr9:128691222..128691225 [GRCh38]
Chr9:131453501..131453504 [GRCh37]
Chr9:9q34.11 |
pathogenic|likely pathogenic|not provided |
| 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 |
| NM_003011.4(SET):c.313C>T (p.His105Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV000678250]|not provided [RCV001815369] |
Chr9:128692700 [GRCh38]
Chr9:131454979 [GRCh37]
Chr9:9q34.11 |
pathogenic|likely pathogenic |
| NM_003011.4(SET):c.650_651dup (p.Gln218fs) |
duplication |
Intellectual disability, autosomal dominant 58 [RCV000678251] |
Chr9:128693794..128693795 [GRCh38]
Chr9:131456073..131456074 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) |
deletion |
Intellectual disability, autosomal dominant 58 [RCV000678252] |
Chr9:128693805..128693807 [GRCh38]
Chr9:131456084..131456086 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_001122821.1(SET):c.167_170del (p.Arg57Leufs) |
deletion |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 [RCV000678248] |
Chr9:128691224..128691227 [GRCh38]
Chr9:131453503..131453506 [GRCh37] |
pathogenic |
| NM_003011.4(SET):c.244T>G (p.Trp82Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV000678249] |
Chr9:128691970 [GRCh38]
Chr9:131454249 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| 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 9q33.3-34.12(chr9:129370440-133866894)x1 |
copy number loss |
not provided [RCV000748671] |
Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:131410039-131452613)x3 |
copy number gain |
not provided [RCV000748693] |
Chr9:131410039..131452613 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131410039-131455760)x0 |
copy number loss |
not provided [RCV000748694] |
Chr9:131410039..131455760 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131452561)x0 |
copy number loss |
not provided [RCV000748695] |
Chr9:131412549..131452561 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131452672)x0 |
copy number loss |
not provided [RCV000748696] |
Chr9:131412549..131452672 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131412549-131455760)x0 |
copy number loss |
not provided [RCV000748697] |
Chr9:131412549..131455760 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131413885-131452561)x3 |
copy number gain |
not provided [RCV000748698] |
Chr9:131413885..131452561 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 |
copy number loss |
not provided [RCV000748699] |
Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12 |
benign |
| GRCh37/hg19 9q34.11(chr9:131418828-131452561)x0 |
copy number loss |
not provided [RCV000748700] |
Chr9:131418828..131452561 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131451119-131452613)x1 |
copy number loss |
not provided [RCV000748701] |
Chr9:131451119..131452613 [GRCh37]
Chr9:9q34.11 |
benign |
| 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_003011.4(SET):c.468C>G (p.Thr156=) |
single nucleotide variant |
not provided [RCV000899285] |
Chr9:128692957 [GRCh38]
Chr9:131455236 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.131+8T>G |
single nucleotide variant |
not provided [RCV000883155] |
Chr9:128691235 [GRCh38]
Chr9:131453514 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NC_000009.12:g.(?_128683896)_(128689655_?)del |
deletion |
not provided [RCV001031396] |
Chr9:131446175..131451934 [GRCh37]
Chr9:9q34.11 |
pathogenic|uncertain significance |
| NM_001122821.2(SET):c.30G>A (p.Pro10=) |
single nucleotide variant |
not provided [RCV000918123] |
Chr9:128683925 [GRCh38]
Chr9:131446204 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.275-6G>A |
single nucleotide variant |
not provided [RCV000947205] |
Chr9:128692656 [GRCh38]
Chr9:131454935 [GRCh37]
Chr9:9q34.11 |
benign |
| GRCh37/hg19 9q34.11(chr9:131433808-131537679)x1 |
copy number loss |
not provided [RCV000848083] |
Chr9:131433808..131537679 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| 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_003011.4(SET):c.78_81del (p.Lys26fs) |
deletion |
not provided [RCV001008458] |
Chr9:128691172..128691175 [GRCh38]
Chr9:131453451..131453454 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1 |
copy number loss |
not provided [RCV001006274] |
Chr9:130957344..132310210 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3 |
copy number gain |
not provided [RCV001006275] |
Chr9:131094304..131863858 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| 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 |
| NM_003011.4(SET):c.185_186del (p.Lys62fs) |
deletion |
not provided [RCV001008150] |
Chr9:128691910..128691911 [GRCh38]
Chr9:131454189..131454190 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.418_419del (p.Ser140fs) |
microsatellite |
Intellectual disability, autosomal dominant 58 [RCV000995867] |
Chr9:128692903..128692904 [GRCh38]
Chr9:131455182..131455183 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.74-3C>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV001095661] |
Chr9:128691167 [GRCh38]
Chr9:131453446 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.670G>A (p.Asp224Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV002227527]|not provided [RCV001583371] |
Chr9:128693902 [GRCh38]
Chr9:131456181 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.664-4del |
deletion |
not provided [RCV001574495] |
Chr9:128693881 [GRCh38]
Chr9:131456160 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.651A>G (p.Leu217=) |
single nucleotide variant |
not provided [RCV000929927] |
Chr9:128693796 [GRCh38]
Chr9:131456075 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.606T>C (p.Asp202=) |
single nucleotide variant |
not provided [RCV000898982] |
Chr9:128693751 [GRCh38]
Chr9:131456030 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_001122821.2(SET):c.66G>T (p.Leu22=) |
single nucleotide variant |
not provided [RCV000954126] |
Chr9:128683961 [GRCh38]
Chr9:131446240 [GRCh37]
Chr9:9q34.11 |
benign |
| NM_003011.4(SET):c.573del (p.Trp192fs) |
deletion |
Intellectual disability, autosomal dominant 58 [RCV001253114] |
Chr9:128693717 [GRCh38]
Chr9:131455996 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| NM_003011.4(SET):c.663+5G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV002252311]|not provided [RCV001067044] |
Chr9:128693813 [GRCh38]
Chr9:131456092 [GRCh37]
Chr9:9q34.11 |
pathogenic|uncertain significance |
| NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT |
insertion |
Intellectual disability, autosomal dominant 58 [RCV001196949] |
Chr9:128689655..128689656 [GRCh38]
Chr9:131451934..131451935 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.240_241delinsA (p.Asn80fs) |
indel |
not provided [RCV001171567] |
Chr9:128691966..128691967 [GRCh38]
Chr9:131454245..131454246 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| NM_003011.4(SET):c.340_341del (p.Glu114fs) |
deletion |
Intellectual disability, autosomal dominant 58 [RCV001090153] |
Chr9:128692726..128692727 [GRCh38]
Chr9:131455005..131455006 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| NM_003011.4(SET):c.615_619del (p.Glu206fs) |
deletion |
not provided [RCV001268183] |
Chr9:128693757..128693761 [GRCh38]
Chr9:131456036..131456040 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.236del (p.Pro79fs) |
deletion |
not provided [RCV001268890] |
Chr9:128691960 [GRCh38]
Chr9:131454239 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| GRCh37/hg19 9q34.11(chr9:131282528-131720659)x3 |
copy number gain |
not provided [RCV001270669] |
Chr9:131282528..131720659 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.663+1G>C |
single nucleotide variant |
not provided [RCV001281648] |
Chr9:128693809 [GRCh38]
Chr9:131456088 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.73+351A>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV001333031] |
Chr9:128690006 [GRCh38]
Chr9:131452285 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_001122821.2(SET):c.10A>G (p.Lys4Glu) |
single nucleotide variant |
not provided [RCV001754908] |
Chr9:128683905 [GRCh38]
Chr9:131446184 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.268C>T (p.Pro90Ser) |
single nucleotide variant |
not provided [RCV001752049] |
Chr9:128691994 [GRCh38]
Chr9:131454273 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.493-14C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV001807582] |
Chr9:128693624 [GRCh38]
Chr9:131455903 [GRCh37]
Chr9:9q34.11 |
benign |
| NM_001122821.2:c.167_170del |
deletion |
Intellectual disability, autosomal dominant 58 [RCV001784960] |
|
pathogenic |
| GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 |
copy number gain |
not provided [RCV001832977] |
Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11 |
pathogenic |
| NM_003011.4(SET):c.132-17C>T |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV001807581] |
Chr9:128691841 [GRCh38]
Chr9:131454120 [GRCh37]
Chr9:9q34.11 |
benign |
| NM_003011.4(SET):c.458C>A (p.Ser153Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV001849903] |
Chr9:128692947 [GRCh38]
Chr9:131455226 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) |
copy number gain |
not specified [RCV002052831] |
Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11 |
pathogenic |
| GRCh37/hg19 9q34.11(chr9:130390139-132760275) |
copy number loss |
not specified [RCV002052848] |
Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11 |
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 |
| NC_000009.11:g.(?_131087402)_(141016451_?)dup |
duplication |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] |
Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3 |
uncertain significance |
| NM_003011.4(SET):c.561G>C (p.Glu187Asp) |
single nucleotide variant |
not provided [RCV003149259] |
Chr9:128693706 [GRCh38]
Chr9:131455985 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.73+342G>C |
single nucleotide variant |
See cases [RCV002253053] |
Chr9:128689997 [GRCh38]
Chr9:131452276 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.263A>G (p.Asn88Ser) |
single nucleotide variant |
not provided [RCV002255014] |
Chr9:128691989 [GRCh38]
Chr9:131454268 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| NM_003011.4(SET):c.8C>T (p.Ala3Val) |
single nucleotide variant |
not provided [RCV002263518] |
Chr9:128689590 [GRCh38]
Chr9:131451869 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.73+379C>T |
single nucleotide variant |
not provided [RCV002293209] |
Chr9:128690034 [GRCh38]
Chr9:131452313 [GRCh37]
Chr9:9q34.11 |
benign |
| NM_003011.4(SET):c.810+65TA[11] |
microsatellite |
not provided [RCV002263519] |
Chr9:128694106..128694107 [GRCh38]
Chr9:131456385..131456386 [GRCh37]
Chr9:9q34.11 |
benign |
| NM_003011.4(SET):c.138dup (p.Glu47Ter) |
duplication |
Intellectual disability, autosomal dominant 58 [RCV003233437] |
Chr9:128691863..128691864 [GRCh38]
Chr9:131454142..131454143 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| 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 |
| NM_003011.4(SET):c.238A>T (p.Asn80Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV002294553] |
Chr9:128691964 [GRCh38]
Chr9:131454243 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.469G>A (p.Glu157Lys) |
single nucleotide variant |
not provided [RCV002274570] |
Chr9:128692958 [GRCh38]
Chr9:131455237 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.24_27del (p.Ser9fs) |
deletion |
not provided [RCV002474062] |
Chr9:128689603..128689606 [GRCh38]
Chr9:131451882..131451885 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.786TGA[2] (p.Asp264del) |
microsatellite |
Inborn genetic diseases [RCV002682175]|not provided [RCV003457196] |
Chr9:128694016..128694018 [GRCh38]
Chr9:131456295..131456297 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.500C>T (p.Thr167Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002887573] |
Chr9:128693645 [GRCh38]
Chr9:131455924 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.695_697del (p.Gly232del) |
deletion |
Inborn genetic diseases [RCV002712347] |
Chr9:128693925..128693927 [GRCh38]
Chr9:131456204..131456206 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.518C>T (p.Thr173Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002742410] |
Chr9:128693663 [GRCh38]
Chr9:131455942 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.492+4T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002892375] |
Chr9:128692985 [GRCh38]
Chr9:131455264 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.787G>A (p.Asp263Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV003136569] |
Chr9:128694019 [GRCh38]
Chr9:131456298 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.379T>C (p.Tyr127His) |
single nucleotide variant |
Intellectual disability, autosomal dominant 58 [RCV003140430] |
Chr9:128692868 [GRCh38]
Chr9:131455147 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.488_489del (p.Gly163fs) |
deletion |
not provided [RCV003223317] |
Chr9:128692977..128692978 [GRCh38]
Chr9:131455256..131455257 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.219del (p.Glu73fs) |
deletion |
Intellectual disability, autosomal dominant 58 [RCV003224941] |
Chr9:128691944 [GRCh38]
Chr9:131454223 [GRCh37]
Chr9:9q34.11 |
likely pathogenic |
| NM_003011.4(SET):c.783_785del (p.Glu261del) |
deletion |
Intellectual disability, autosomal dominant 58 [RCV003338080] |
Chr9:128694013..128694015 [GRCh38]
Chr9:131456292..131456294 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.284T>C (p.Leu95Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003374776] |
Chr9:128692671 [GRCh38]
Chr9:131454950 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.654G>A (p.Gln218=) |
single nucleotide variant |
not provided [RCV003457572] |
Chr9:128693799 [GRCh38]
Chr9:131456078 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.550G>A (p.Glu184Lys) |
single nucleotide variant |
not provided [RCV003442370] |
Chr9:128693695 [GRCh38]
Chr9:131455974 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.587A>G (p.His196Arg) |
single nucleotide variant |
SET-related condition [RCV003404526] |
Chr9:128693732 [GRCh38]
Chr9:131456011 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.799dup (p.Glu267fs) |
duplication |
not provided [RCV003443218] |
Chr9:128694027..128694028 [GRCh38]
Chr9:131456306..131456307 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.683AAG[1] (p.Glu229del) |
microsatellite |
not provided [RCV003430274] |
Chr9:128693914..128693916 [GRCh38]
Chr9:131456193..131456195 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.664-6_664-4del |
deletion |
not specified [RCV003404844] |
Chr9:128693881..128693883 [GRCh38]
Chr9:131456160..131456162 [GRCh37]
Chr9:9q34.11 |
uncertain significance |
| NM_003011.4(SET):c.468C>T (p.Thr156=) |
single nucleotide variant |
not provided [RCV003425806] |
Chr9:128692957 [GRCh38]
Chr9:131455236 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.591T>C (p.Ser197=) |
single nucleotide variant |
SET-related condition [RCV003939560] |
Chr9:128693736 [GRCh38]
Chr9:131456015 [GRCh37]
Chr9:9q34.11 |
likely benign |
| GRCh37/hg19 9q34.11(chr9:131282253-131530589)x1 |
copy number loss |
not specified [RCV003986853] |
Chr9:131282253..131530589 [GRCh37]
Chr9:9q34.11 |
pathogenic |
| NM_003011.4(SET):c.225C>T (p.Ile75=) |
single nucleotide variant |
SET-related condition [RCV003968901] |
Chr9:128691951 [GRCh38]
Chr9:131454230 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.664-5_664-4del |
deletion |
SET-related condition [RCV003951474] |
Chr9:128693881..128693882 [GRCh38]
Chr9:131456160..131456161 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_001122821.2(SET):c.65T>C (p.Leu22Pro) |
single nucleotide variant |
not provided [RCV003885197] |
Chr9:128683960 [GRCh38]
Chr9:131446239 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.702A>T (p.Glu234Asp) |
single nucleotide variant |
SET-related condition [RCV003944191] |
Chr9:128693934 [GRCh38]
Chr9:131456213 [GRCh37]
Chr9:9q34.11 |
likely benign |
| NM_003011.4(SET):c.660C>T (p.Tyr220=) |
single nucleotide variant |
not provided [RCV003885163] |
Chr9:128693805 [GRCh38]
Chr9:131456084 [GRCh37]
Chr9:9q34.11 |
likely benign |
