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(chr9:121112395-138075224)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 9q33.2-34.3(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 9q34.2(chr9:133504071-133777922)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|See cases [RCV000052259] |
Chr9:133504071..133777922 [GRCh38] Chr9:136324358..136643044 [GRCh37] Chr9:135314179..135632865 [NCBI36] Chr9:9q34.2 |
uncertain significance |
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 9q34.11-34.3(chr9:129068560-136495351)x3 |
copy number gain |
See cases [RCV000053779] |
Chr9:129068560..136495351 [GRCh38] Chr9:131830839..139389803 [GRCh37] Chr9:130870660..138509624 [NCBI36] Chr9:9q34.11-34.3 |
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 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 9q34.13-34.2(chr9:131406683-133852779)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] |
Chr9:131406683..133852779 [GRCh38] Chr9:134282070..136717901 [GRCh37] Chr9:133271891..135707722 [NCBI36] Chr9:9q34.13-34.2 |
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 |
NM_001080483.2(TMEM8C):c.136-2179C>T |
single nucleotide variant |
Lung cancer [RCV000108187] |
Chr9:133522467 [GRCh38] Chr9:136387589 [GRCh37] Chr9:9q34.2 |
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 9q34.11-34.3(chr9:130513207-138124532)x3 |
copy number gain |
See cases [RCV000133778] |
Chr9:130513207..138124532 [GRCh38] Chr9:133388594..141018984 [GRCh37] Chr9:132378415..140138805 [NCBI36] Chr9:9q34.11-34.3 |
pathogenic |
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 |
copy number gain |
See cases [RCV000134916] |
Chr9:129068560..138179445 [GRCh38] Chr9:131830839..141073897 [GRCh37] Chr9:130870660..140193718 [NCBI36] Chr9:9q34.11-34.3 |
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 9q34.13-34.3(chr9:132986903-138114463)x3 |
copy number gain |
See cases [RCV000136790] |
Chr9:132986903..138114463 [GRCh38] Chr9:135862290..141008915 [GRCh37] Chr9:134852111..140128736 [NCBI36] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 |
copy number gain |
See cases [RCV000137825] |
Chr9:133504071..138159073 [GRCh38] Chr9:136324358..141053525 [GRCh37] Chr9:135314179..140173346 [NCBI36] Chr9:9q34.2-34.3 |
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 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 9q34.13-34.3(chr9:132386553-138059695)x3 |
copy number gain |
See cases [RCV000142636] |
Chr9:132386553..138059695 [GRCh38] Chr9:135261940..140954147 [GRCh37] Chr9:134251761..140073968 [NCBI36] Chr9:9q34.13-34.3 |
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_001080483.3(MYMK):c.481G>C (p.Gly161Arg) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001270899] |
Chr9:133515526 [GRCh38] Chr9:136380648 [GRCh37] Chr9:9q34.2 |
uncertain significance |
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 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 |
NM_001080483.3(MYMK):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495944] |
Chr9:133524843 [GRCh38] Chr9:136389965 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495947] |
Chr9:133514749 [GRCh38] Chr9:136379871 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495951]|See cases [RCV002252140] |
Chr9:133518975 [GRCh38] Chr9:136384097 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic |
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) |
single nucleotide variant |
Carey-Fineman-Ziter syndrome 1 [RCV003147484]|Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495954]|MYMK-related disorder [RCV003424047]|not provided [RCV001575718] |
Chr9:133519002 [GRCh38] Chr9:136384124 [GRCh37] Chr9:9q34.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV000495946] |
Chr9:133515546 [GRCh38] Chr9:136380668 [GRCh37] Chr9:9q34.2 |
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 |
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 9q34.13-34.3(chr9:135377559-141213431)x1 |
copy number loss |
mTOR Inhibitor response [RCV000626442] |
Chr9:135377559..141213431 [GRCh37] Chr9:9q34.13-34.3 |
drug response |
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 |
copy number gain |
not provided [RCV000683160] |
Chr9:135105971..141020389 [GRCh37] Chr9:9q34.13-34.3 |
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 9q34.2(chr9:136310908-136452144)x1 |
copy number loss |
not provided [RCV000748743] |
Chr9:136310908..136452144 [GRCh37] Chr9:9q34.2 |
benign |
GRCh37/hg19 9q34.2(chr9:136351927-136402067)x3 |
copy number gain |
not provided [RCV000748744] |
Chr9:136351927..136402067 [GRCh37] Chr9:9q34.2 |
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_001080483.3(MYMK):c.253C>T (p.Leu85=) |
single nucleotide variant |
not provided [RCV000963929] |
Chr9:133519020 [GRCh38] Chr9:136384142 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.642C>T (p.Ser214=) |
single nucleotide variant |
not provided [RCV000982722] |
Chr9:133514660 [GRCh38] Chr9:136379782 [GRCh37] Chr9:9q34.2 |
likely benign |
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_001080483.3(MYMK):c.219G>A (p.Gly73=) |
single nucleotide variant |
not provided [RCV000970202] |
Chr9:133520205 [GRCh38] Chr9:136385327 [GRCh37] Chr9:9q34.2 |
benign|likely benign |
NM_001080483.3(MYMK):c.480C>T (p.Phe160=) |
single nucleotide variant |
not provided [RCV000942341] |
Chr9:133515527 [GRCh38] Chr9:136380649 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.11:g.(?_134379574)_(138678377_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000807925] |
Chr9:134379574..138678377 [GRCh37] Chr9:9q34.13-34.3 |
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_001080483.3(MYMK):c.165G>C (p.Leu55Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003240637] |
Chr9:133520259 [GRCh38] Chr9:136385381 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.253C>A (p.Leu85Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003239778] |
Chr9:133519020 [GRCh38] Chr9:136384142 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.-49T>C |
single nucleotide variant |
not provided [RCV001688820] |
Chr9:133524893 [GRCh38] Chr9:136390015 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.135+179A>G |
single nucleotide variant |
not provided [RCV001620131] |
Chr9:133524531 [GRCh38] Chr9:136389653 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.190G>A (p.Asp64Asn) |
single nucleotide variant |
not provided [RCV001551885] |
Chr9:133520234 [GRCh38] Chr9:136385356 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.251-18T>C |
single nucleotide variant |
not provided [RCV001541252] |
Chr9:133519040 [GRCh38] Chr9:136384162 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.399+27C>G |
single nucleotide variant |
not provided [RCV001617544] |
Chr9:133518847 [GRCh38] Chr9:136383969 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.267C>T (p.Asp89=) |
single nucleotide variant |
not provided [RCV000930226] |
Chr9:133519006 [GRCh38] Chr9:136384128 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.348G>C (p.Gly116=) |
single nucleotide variant |
not provided [RCV000930019] |
Chr9:133518925 [GRCh38] Chr9:136384047 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_001080483.3(MYMK):c.615G>A (p.Pro205=) |
single nucleotide variant |
not provided [RCV000918491] |
Chr9:133514687 [GRCh38] Chr9:136379809 [GRCh37] Chr9:9q34.2 |
benign |
NC_000009.11:g.(?_135771602)_(136769889_?)dup |
duplication |
Tuberous sclerosis 1 [RCV001033460] |
Chr9:135771602..136769889 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.468C>T (p.Pro156=) |
single nucleotide variant |
not provided [RCV000890513] |
Chr9:133515539 [GRCh38] Chr9:136380661 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_001080483.3(MYMK):c.300C>T (p.Gly100=) |
single nucleotide variant |
not provided [RCV000933960] |
Chr9:133518973 [GRCh38] Chr9:136384095 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_001080483.3(MYMK):c.517-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004028397]|not provided [RCV000890572] |
Chr9:133514789 [GRCh38] Chr9:136379911 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.11:g.(?_135771850)_(137038881_?)dup |
duplication |
Tuberous sclerosis 1 [RCV001033564] |
Chr9:135771850..137038881 [GRCh37] Chr9:9q34.13-34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.517-169T>G |
single nucleotide variant |
not provided [RCV001710286] |
Chr9:133514954 [GRCh38] Chr9:136380076 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.399+361A>G |
single nucleotide variant |
not provided [RCV001680121] |
Chr9:133518513 [GRCh38] Chr9:136383635 [GRCh37] Chr9:9q34.2 |
benign |
NC_000009.12:g.133524994T>G |
single nucleotide variant |
not provided [RCV001665632] |
Chr9:133524994 [GRCh38] Chr9:136390116 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.517-208T>G |
single nucleotide variant |
not provided [RCV001611094] |
Chr9:133514993 [GRCh38] Chr9:136380115 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.136-27T>C |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838702]|not provided [RCV001611502] |
Chr9:133520315 [GRCh38] Chr9:136385437 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.135+81T>G |
single nucleotide variant |
not provided [RCV001648472] |
Chr9:133524629 [GRCh38] Chr9:136389751 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.399+5G>A |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001004946]|not provided [RCV001766821] |
Chr9:133518869 [GRCh38] Chr9:136383991 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001089958] |
Chr9:133518968 [GRCh38] Chr9:136384090 [GRCh37] Chr9:9q34.2 |
likely pathogenic |
NM_001080483.3(MYMK):c.242C>T (p.Ser81Leu) |
single nucleotide variant |
not provided [RCV001549477] |
Chr9:133520182 [GRCh38] Chr9:136385304 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) |
insertion |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001267695] |
Chr9:133515524..133515525 [GRCh38] Chr9:136380646..136380647 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.162del (p.Leu55fs) |
deletion |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001333720] |
Chr9:133520262 [GRCh38] Chr9:136385384 [GRCh37] Chr9:9q34.2 |
pathogenic |
NM_001080483.3(MYMK):c.535G>A (p.Val179Ile) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001332769] |
Chr9:133514767 [GRCh38] Chr9:136379889 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.534T>C (p.Tyr178=) |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838682]|not provided [RCV001537062] |
Chr9:133514768 [GRCh38] Chr9:136379890 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.136-144C>T |
single nucleotide variant |
not provided [RCV001619287] |
Chr9:133520432 [GRCh38] Chr9:136385554 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.136-43T>C |
single nucleotide variant |
Congenital nonprogressive myopathy with Moebius and Robin sequences [RCV001838753]|not provided [RCV001669715] |
Chr9:133520331 [GRCh38] Chr9:136385453 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.250+208T>G |
single nucleotide variant |
not provided [RCV001681263] |
Chr9:133519966 [GRCh38] Chr9:136385088 [GRCh37] Chr9:9q34.2 |
benign |
NM_001080483.3(MYMK):c.365T>C (p.Ile122Thr) |
single nucleotide variant |
not provided [RCV001771319] |
Chr9:133518908 [GRCh38] Chr9:136384030 [GRCh37] Chr9:9q34.2 |
uncertain significance |
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.(?_135139626)_(140034216_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] |
Chr9:135139626..140034216 [GRCh37] Chr9:9q34.13-34.3 |
uncertain significance |
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 |
NC_000009.11:g.(?_136218768)_(141016451_?)dup |
duplication |
Kleefstra syndrome 1 [RCV003122719] |
Chr9:136218768..141016451 [GRCh37] Chr9:9q34.2-34.3 |
uncertain significance |
NM_001080483.3(MYMK):c.8C>T (p.Thr3Met) |
single nucleotide variant |
Carey-Fineman-Ziter syndrome 1 [RCV003132789]|MYMK-related disorder [RCV003906659] |
Chr9:133524837 [GRCh38] Chr9:136389959 [GRCh37] Chr9:9q34.2 |
benign|uncertain significance |
NM_001080483.3(MYMK):c.565A>G (p.Met189Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003262985] |
Chr9:133514737 [GRCh38] Chr9:136379859 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.506T>G (p.Phe169Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003356250] |
Chr9:133515501 [GRCh38] Chr9:136380623 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3 |
copy number gain |
not provided [RCV003484785] |
Chr9:136378366..136726628 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.542G>A (p.Ser181Asn) |
single nucleotide variant |
MYMK-related disorder [RCV003399973] |
Chr9:133514760 [GRCh38] Chr9:136379882 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.159del (p.Gly54fs) |
deletion |
not provided [RCV003443271] |
Chr9:133520265 [GRCh38] Chr9:136385387 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.243G>A (p.Ser81=) |
single nucleotide variant |
not provided [RCV003430375] |
Chr9:133520181 [GRCh38] Chr9:136385303 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_001080483.3(MYMK):c.159C>T (p.Pro53=) |
single nucleotide variant |
not provided [RCV003884920] |
Chr9:133520265 [GRCh38] Chr9:136385387 [GRCh37] Chr9:9q34.2 |
likely benign |
NM_001080483.3(MYMK):c.265G>A (p.Asp89Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004453192] |
Chr9:133519008 [GRCh38] Chr9:136384130 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.32C>A (p.Pro11His) |
single nucleotide variant |
Inborn genetic diseases [RCV004453200] |
Chr9:133524813 [GRCh38] Chr9:136389935 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.86G>A (p.Arg29Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004453221] |
Chr9:133524759 [GRCh38] Chr9:136389881 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.250+6T>G |
single nucleotide variant |
Inborn genetic diseases [RCV004453183] |
Chr9:133520168 [GRCh38] Chr9:136385290 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.418A>C (p.Lys140Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004453202] |
Chr9:133515589 [GRCh38] Chr9:136380711 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.160G>A (p.Gly54Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004453176] |
Chr9:133520264 [GRCh38] Chr9:136385386 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.614C>T (p.Pro205Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004453217] |
Chr9:133514688 [GRCh38] Chr9:136379810 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.316G>A (p.Val106Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004453195] |
Chr9:133518957 [GRCh38] Chr9:136384079 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.542G>C (p.Ser181Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004453210] |
Chr9:133514760 [GRCh38] Chr9:136379882 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.486G>C (p.Ala162=) |
single nucleotide variant |
not provided [RCV004575005] |
Chr9:133515521 [GRCh38] Chr9:136380643 [GRCh37] Chr9:9q34.2 |
likely benign |
NC_000009.11:g.(?_131678355)_(140095163_?)dup |
duplication |
not provided [RCV004582063] |
Chr9:131678355..140095163 [GRCh37] Chr9:9q34.11-34.3 |
uncertain significance |
NM_001080483.3(MYMK):c.428T>C (p.Leu143Pro) |
single nucleotide variant |
Carey-Fineman-Ziter syndrome 1 [RCV004586430] |
Chr9:133515579 [GRCh38] Chr9:136380701 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.264C>G (p.Phe88Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004649850] |
Chr9:133519009 [GRCh38] Chr9:136384131 [GRCh37] Chr9:9q34.2 |
uncertain significance |
GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720480] |
Chr9:136926151..138059181 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529) |
copy number loss |
Kleefstra syndrome 1 [RCV004720485] |
Chr9:137552082..137728529 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188) |
copy number loss |
Kleefstra syndrome 1 [RCV004720477] |
Chr9:137590213..138052188 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525) |
copy number loss |
Kleefstra syndrome 1 [RCV004720478] |
Chr9:137590213..137817525 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113) |
copy number loss |
Kleefstra syndrome 1 [RCV004720482] |
Chr9:137552409..138052113 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720481] |
Chr9:137552409..138059181 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159) |
copy number loss |
Kleefstra syndrome 1 [RCV004720487] |
Chr9:137552409..137879159 [GRCh38] Chr9:9q34.13-34.3 |
pathogenic |
NM_001080483.3(MYMK):c.319C>T (p.Arg107Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004959035] |
Chr9:133518954 [GRCh38] Chr9:136384076 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.505T>C (p.Phe169Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004959036] |
Chr9:133515502 [GRCh38] Chr9:136380624 [GRCh37] Chr9:9q34.2 |
uncertain significance |
NM_001080483.3(MYMK):c.278G>A (p.Arg93Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004959034] |
Chr9:133518995 [GRCh38] Chr9:136384117 [GRCh37] Chr9:9q34.2 |
uncertain significance |