| GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
Ambiguous genitalia [RCV000052250]|See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 |
copy number gain |
Global developmental delay [RCV000053573]|See cases [RCV000053573] |
Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1 |
pathogenic |
| GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054154]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054154]|See cases [RCV000054154] |
Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1 |
pathogenic |
| GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 |
copy number loss |
Global developmental delay [RCV000054155]|See cases [RCV000054155] |
Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1 |
pathogenic |
| NM_016188.4(ACTL6B):c.1050G>A (p.Gly350=) |
single nucleotide variant |
Malignant melanoma [RCV000067524] |
Chr7:100646614 [GRCh38]
Chr7:100244237 [GRCh37]
Chr7:100082173 [NCBI36]
Chr7:7q22.1 |
not provided |
| GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 |
copy number loss |
See cases [RCV000135782] |
Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 |
copy number gain |
See cases [RCV000136717] |
Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3 |
pathogenic |
| GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 |
copy number gain |
See cases [RCV000138109] |
Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1 |
uncertain significance |
| GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785966]|Global developmental delay [RCV000454131]|Intellectual disability [RCV000454131] |
Chr7:100647014 [GRCh38]
Chr7:100244637 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic |
| TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34 |
pathogenic |
| GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 |
copy number gain |
See cases [RCV000447709] |
Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3 |
pathogenic |
| GRCh37/hg19 7q22.1(chr7:100239082-100252672)x3 |
copy number gain |
See cases [RCV000447724] |
Chr7:100239082..100252672 [GRCh37]
Chr7:7q22.1 |
likely benign |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH |
single nucleotide variant |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS [RCV000785974]|not specified [RCV000495896] |
Chr7:100646637 [GRCh38]
Chr7:100244260 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 |
copy number gain |
not provided [RCV000682911] |
Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3 |
pathogenic |
| GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 |
copy number loss |
not provided [RCV000682904] |
Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1 |
pathogenic |
| NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv |
inversion |
Speech-language disorder 1 [RCV000234948] |
Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| GRCh37/hg19 7q22.1(chr7:100141861-100552714)x1 |
copy number loss |
not provided [RCV000746918] |
Chr7:100141861..100552714 [GRCh37]
Chr7:7q22.1 |
likely benign |
| GRCh37/hg19 7q22.1(chr7:100214015-100304735)x3 |
copy number gain |
not provided [RCV000746919] |
Chr7:100214015..100304735 [GRCh37]
Chr7:7q22.1 |
benign |
| NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853481] |
Chr7:100655099 [GRCh38]
Chr7:100252722 [GRCh37]
Chr7:7q22.1 |
likely pathogenic |
| NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853482] |
Chr7:100648735 [GRCh38]
Chr7:100246358 [GRCh37]
Chr7:7q22.1 |
likely pathogenic |
| NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853484] |
Chr7:100643252 [GRCh38]
Chr7:100240875 [GRCh37]
Chr7:7q22.1 |
uncertain significance |
| GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3 |
pathogenic |
| NM_016188.5(ACTL6B):c.1279del (p.Ter427AspextTer?) |
deletion |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785970] |
Chr7:100643248 [GRCh38]
Chr7:100240871 [GRCh37]
Chr7:7q22.1 |
pathogenic |
| NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785969] |
Chr7:100646619 [GRCh38]
Chr7:100244242 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic |
| NM_016188.5(ACTL6B):c.999T>A (p.Cys333Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785967] |
Chr7:100646769 [GRCh38]
Chr7:100244392 [GRCh37]
Chr7:7q22.1 |
pathogenic |
| NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785972] |
Chr7:100647479 [GRCh38]
Chr7:100245102 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic |
| NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785973] |
Chr7:100648608 [GRCh38]
Chr7:100246231 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic |
| NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) AND INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH |
single nucleotide variant |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS [RCV000785975] |
Chr7:100655459 [GRCh38]
Chr7:100253082 [GRCh37]
Chr7:7q22.1 |
pathogenic|uncertain significance |
| NM_016188.5(ACTL6B):c.435_437CTT[2] (p.Phe147del) |
microsatellite |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785971] |
Chr7:100650062..100650064 [GRCh38]
Chr7:100247685..100247687 [GRCh37]
Chr7:7q22.1 |
pathogenic|uncertain significance |
| NM_016188.5(ACTL6B):c.1261_1275del (p.Val421_Cys425del) |
deletion |
ACTL6B-related neurodevelopmental disorder [RCV000782175] |
Chr7:100643252..100643266 [GRCh38]
Chr7:100240875..100240889 [GRCh37]
Chr7:7q22.1 |
likely pathogenic |
| NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000785968] |
Chr7:100647224 [GRCh38]
Chr7:100244847 [GRCh37]
Chr7:7q22.1 |
pathogenic|likely pathogenic |
| NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853483] |
Chr7:100650116 [GRCh38]
Chr7:100247739 [GRCh37]
Chr7:7q22.1 |
uncertain significance |
| NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853485] |
Chr7:100647055 [GRCh38]
Chr7:100244678 [GRCh37]
Chr7:7q22.1 |
likely pathogenic |
| NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter) |
single nucleotide variant |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 [RCV000853486] |
Chr7:100647463 [GRCh38]
Chr7:100245086 [GRCh37]
Chr7:7q22.1 |
likely pathogenic |
Gene-Chemical Interaction Annotations
