GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 |
copy number gain |
See cases [RCV000051153] |
Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 |
copy number gain |
See cases [RCV000135515] |
Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 |
copy number gain |
See cases [RCV000136590] |
Chr18:2425507..11904118 [GRCh38] Chr18:2425506..11904117 [GRCh37] Chr18:2415506..11894117 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 |
copy number loss |
See cases [RCV000137105] |
Chr18:148963..10900517 [GRCh38] Chr18:148963..10900515 [GRCh37] Chr18:138963..10890515 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 |
copy number loss |
See cases [RCV000136860] |
Chr18:180229..10762632 [GRCh38] Chr18:180229..10762630 [GRCh37] Chr18:170229..10752630 [NCBI36] Chr18:18p11.32-11.22 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 |
copy number gain |
See cases [RCV000137456] |
Chr18:118760..14089410 [GRCh38] Chr18:118760..14089409 [GRCh37] Chr18:108760..14079409 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 |
copy number loss |
See cases [RCV000137457] |
Chr18:118760..14089410 [GRCh38] Chr18:118760..14089409 [GRCh37] Chr18:108760..14079409 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 |
copy number loss |
See cases [RCV000138101] |
Chr18:133157..14089410 [GRCh38] Chr18:133157..14089409 [GRCh37] Chr18:123157..14079409 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.31-11.23(chr18:6299210-7244644)x3 |
copy number gain |
See cases [RCV000139425] |
Chr18:6299210..7244644 [GRCh38] Chr18:6299209..7244642 [GRCh37] Chr18:6289209..7234642 [NCBI36] Chr18:18p11.31-11.23 |
uncertain significance |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1 |
copy number loss |
See cases [RCV000139022] |
Chr18:118760..8999132 [GRCh38] Chr18:118760..8999130 [GRCh37] Chr18:108760..8989130 [NCBI36] Chr18:18p11.32-11.22 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) |
copy number gain |
See cases [RCV000140442] |
Chr18:136226..15175006 [GRCh38] Chr18:136226..15175005 [GRCh37] Chr18:126226..15165005 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 |
copy number gain |
See cases [RCV000141427] |
Chr18:14316..14206225 [GRCh38] Chr18:14316..14206224 [GRCh37] Chr18:4316..14196224 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.31(chr18:85432-7094700)x1 |
copy number loss |
See cases [RCV000141428] |
Chr18:85432..7094700 [GRCh38] Chr18:85432..7094699 [GRCh37] Chr18:75432..7084699 [NCBI36] Chr18:18p11.32-11.31 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 |
copy number loss |
See cases [RCV000141086] |
Chr18:118760..15024003 [GRCh38] Chr18:118760..15024002 [GRCh37] Chr18:108760..15014002 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 |
copy number loss |
See cases [RCV000141627] |
Chr18:48782..14978076 [GRCh38] Chr18:48782..14978075 [GRCh37] Chr18:38782..14968075 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.31(chr18:5958575-6596682)x3 |
copy number gain |
See cases [RCV000142293] |
Chr18:5958575..6596682 [GRCh38] Chr18:5958574..6596681 [GRCh37] Chr18:5948574..6586681 [NCBI36] Chr18:18p11.31 |
likely benign|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 |
copy number loss |
See cases [RCV000142225] |
Chr18:958974..11954935 [GRCh38] Chr18:958975..11954934 [GRCh37] Chr18:948975..11944934 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 |
copy number gain |
See cases [RCV000143434] |
Chr18:136226..15198991 [GRCh38] Chr18:136226..15198990 [GRCh37] Chr18:126226..15188990 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 |
copy number gain |
See cases [RCV000143194] |
Chr18:118760..12642431 [GRCh38] Chr18:118760..12642430 [GRCh37] Chr18:108760..12632430 [NCBI36] Chr18:18p11.32-11.21 |
uncertain significance |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 |
copy number gain |
See cases [RCV000143477] |
Chr18:136226..14337134 [GRCh38] Chr18:136226..14337133 [GRCh37] Chr18:126226..14327133 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 |
copy number loss |
See cases [RCV000148129] |
Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 |
copy number loss |
See cases [RCV000051027] |
Chr18:148963..13715860 [GRCh38] Chr18:148963..13715859 [GRCh37] Chr18:138963..13705859 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 |
copy number gain |
See cases [RCV000052499] |
Chr18:10001..15380684 [GRCh38] Chr18:10001..15380683 [GRCh37] Chr18:1..15370683 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 |
copy number gain |
See cases [RCV000052504] |
Chr18:53345..20948503 [GRCh38] Chr18:53345..18528464 [GRCh37] Chr18:43345..16782462 [NCBI36] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 |
copy number gain |
See cases [RCV000052513] |
Chr18:148963..21040153 [GRCh38] Chr18:148963..18620114 [GRCh37] Chr18:138963..16874112 [NCBI36] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 |
copy number gain |
See cases [RCV000052535] |
Chr18:1919684..15325188 [GRCh38] Chr18:1919685..15325187 [GRCh37] Chr18:1909685..15315187 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 |
copy number gain |
See cases [RCV000052536] |
Chr18:3389362..14082029 [GRCh38] Chr18:3389360..14082028 [GRCh37] Chr18:3379360..14072028 [NCBI36] Chr18:18p11.31-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.31(chr18:53344-7029134)x1 |
copy number loss |
See cases [RCV000053455] |
Chr18:53344..7029134 [GRCh38] Chr18:53344..7029133 [GRCh37] Chr18:43344..7019133 [NCBI36] Chr18:18p11.32-11.31 |
pathogenic |
GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1 |
copy number loss |
See cases [RCV000053456] |
Chr18:112259..9135777 [GRCh38] Chr18:112259..9135775 [GRCh37] Chr18:102259..9125775 [NCBI36] Chr18:18p11.32-11.22 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 |
copy number loss |
See cases [RCV000053457] |
Chr18:112259..14122522 [GRCh38] Chr18:112259..14122521 [GRCh37] Chr18:102259..14112521 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 |
copy number loss |
See cases [RCV000053458] |
Chr18:131700..15121055 [GRCh38] Chr18:131700..15121054 [GRCh37] Chr18:121700..15111054 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 |
copy number loss |
See cases [RCV000053461] |
Chr18:131700..14226905 [GRCh38] Chr18:131700..14226904 [GRCh37] Chr18:121700..14216904 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 |
copy number loss |
See cases [RCV000053781] |
Chr18:131700..10536767 [GRCh38] Chr18:131700..10536764 [GRCh37] Chr18:121700..10526764 [NCBI36] Chr18:18p11.32-11.22 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 |
copy number loss |
See cases [RCV000053784] |
Chr18:148963..13530126 [GRCh38] Chr18:148963..13530125 [GRCh37] Chr18:138963..13520125 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.31(chr18:148963-6731495)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053785]|See cases [RCV000053785] |
Chr18:148963..6731495 [GRCh38] Chr18:148963..6731494 [GRCh37] Chr18:138963..6721494 [NCBI36] Chr18:18p11.32-11.31 |
pathogenic |
GRCh38/hg38 18p11.32-11.22(chr18:148963-8572827)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053786]|See cases [RCV000053786] |
Chr18:148963..8572827 [GRCh38] Chr18:148963..8572825 [GRCh37] Chr18:138963..8562825 [NCBI36] Chr18:18p11.32-11.22 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 |
copy number loss |
See cases [RCV000053787] |
Chr18:148963..13068104 [GRCh38] Chr18:148963..13068103 [GRCh37] Chr18:138963..13058103 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.31(chr18:2547398-6694867)x1 |
copy number loss |
See cases [RCV000053788] |
Chr18:2547398..6694867 [GRCh38] Chr18:2547397..6694866 [GRCh37] Chr18:2537397..6684866 [NCBI36] Chr18:18p11.32-11.31 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 |
copy number loss |
See cases [RCV000051154] |
Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21 |
pathogenic |
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 |
copy number loss |
Deletion of short arm of chromosome 18 [RCV003327630] |
Chr18:158286..14124574 [GRCh38] Chr18:18p11.32-11.21 |
pathogenic |