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(chr18:148963-14081888)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] |
Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:18p11.32-11.21 |
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 18p11.32-11.21(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-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(chr18:1919684-15325188)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 18p11.21(chr18:13298775-14082029)x3 |
copy number gain |
See cases [RCV000052540] |
Chr18:13298775..14082029 [GRCh38] Chr18:13298774..14082028 [GRCh37] Chr18:13288774..14072028 [NCBI36] Chr18:18p11.21 |
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 18p11.32-11.21(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 18p11.22-11.21(chr18:10077657-14081888)x3 |
copy number gain |
See cases [RCV000136610] |
Chr18:10077657..14081888 [GRCh38] Chr18:10077654..14081887 [GRCh37] Chr18:10067654..14071887 [NCBI36] Chr18:18p11.22-11.21 |
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(chr18:131700-14226905)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 18p11.32-11.21(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-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(chr18:118760-14089410)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(chr18:14316-14206225)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 18p11.32-11.21(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 18p11.21(chr18:13604748-14089410)x4 |
copy number gain |
See cases [RCV000137691] |
Chr18:13604748..14089410 [GRCh38] Chr18:13604747..14089409 [GRCh37] Chr18:13594747..14079409 [NCBI36] Chr18:18p11.21 |
uncertain significance |
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 18p11.32-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 18p11.32-11.21(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(chr18:118760-15024003)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(chr18:136226-15198991)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-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 |
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 |
copy number loss |
See cases [RCV000240281] |
Chr18:14316..15328499 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 |
copy number gain |
See cases [RCV000512118] |
Chr18:136226..21657790 [GRCh37] Chr18:18p11.32-q11.2 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 |
copy number loss |
See cases [RCV000515578] |
Chr18:13034..15026309 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 |
copy number loss |
not provided [RCV000684053] |
Chr18:136226..15198989 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 |
copy number loss |
See cases [RCV001007421] |
Chr18:13034..15330525 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 |
copy number loss |
not provided [RCV001006947] |
Chr18:136226..13894429 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 |
copy number loss |
not provided [RCV001006953] |
Chr18:136226..15175005 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 |
copy number loss |
not provided [RCV001006954] |
Chr18:136226..18529578 [GRCh37] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 |
copy number loss |
not provided [RCV001006952] |
Chr18:136304..15143714 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) |
copy number loss |
not specified [RCV002052612] |
Chr18:136226..14983938 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) |
copy number loss |
not specified [RCV002052614] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.21(chr18:13669826-13776958)x1 |
copy number loss |
not provided [RCV001832947] |
Chr18:13669826..13776958 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.21(chr18:13395391-13689269)x1 |
copy number loss |
not provided [RCV001834341] |
Chr18:13395391..13689269 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_152352.4(FAM210A):c.51C>G (p.Cys17Trp) |
single nucleotide variant |
not specified [RCV004229149] |
Chr18:13682027 [GRCh38] Chr18:13682026 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 |
copy number gain |
not specified [RCV003986102] |
Chr18:136227..15157836 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 |
copy number gain |
not specified [RCV003987269] |
Chr18:136226..14455323 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
NM_152352.4(FAM210A):c.68C>G (p.Ala23Gly) |
single nucleotide variant |
not specified [RCV004625476] |
Chr18:13682010 [GRCh38] Chr18:13682009 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.664A>G (p.Met222Val) |
single nucleotide variant |
not specified [RCV004625477] |
Chr18:13666635 [GRCh38] Chr18:13666634 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.13G>A (p.Val5Ile) |
single nucleotide variant |
not specified [RCV004625475] |
Chr18:13682065 [GRCh38] Chr18:13682064 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-11.21(chr18:136227-15062603)x3 |
copy number gain |
not provided [RCV004819318] |
Chr18:136227..15062603 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
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 18p11.22-q11.2(chr18:8779843-24685379)x3 |
copy number gain |
See cases [RCV000143075] |
Chr18:8779843..24685379 [GRCh38] Chr18:8779841..22265343 [GRCh37] Chr18:8769841..20519341 [NCBI36] Chr18:18p11.22-q11.2 |
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 18p11.21-q11.2(chr18:13340112-23409879) |
copy number gain |
See cases [RCV000143455] |
Chr18:13340112..23409879 [GRCh38] Chr18:13340111..20989843 [GRCh37] Chr18:13330111..19243841 [NCBI36] Chr18:18p11.21-q11.2 |
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 |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 |
copy number gain |
See cases [RCV000449034] |
Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 |
copy number loss |
See cases [RCV000239938] |
Chr18:163323..14103971 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 |
copy number gain |
See cases [RCV000240029] |
Chr18:163323..15102598 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 |
copy number loss |
See cases [RCV000599143] |
Chr18:13034..15375878 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3 |
copy number gain |
See cases [RCV000447320] |
Chr18:12254327..23262749 [GRCh37] Chr18:18p11.21-q11.2 |
pathogenic |
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 |
copy number gain |
See cases [RCV000447359] |
Chr18:4465872..15198990 [GRCh37] Chr18:18p11.31-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 |
copy number gain |
See cases [RCV000445796] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 |
copy number loss |
See cases [RCV000449008] |
Chr18:136226..14983938 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 |
copy number gain |
See cases [RCV000447836] |
Chr18:136226..18534784 [GRCh37] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1 |
copy number loss |
See cases [RCV000510514] |
Chr18:9671667..14854484 [GRCh37] Chr18:18p11.22-11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 |
copy number gain |
See cases [RCV000511520] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic|uncertain significance |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 |
copy number loss |
See cases [RCV000511826] |
Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 |
copy number gain |
See cases [RCV000511949] |
Chr18:136226..18521285 [GRCh37] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 |
copy number gain |
See cases [RCV000511857] |
Chr18:136227..46171053 [GRCh37] Chr18:18p11.32-q21.1 |
pathogenic |
GRCh37/hg19 18p11.21(chr18:13582359-14770213)x3 |
copy number gain |
See cases [RCV000511070] |
Chr18:13582359..14770213 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_152352.4(FAM210A):c.370C>G (p.Gln124Glu) |
single nucleotide variant |
not specified [RCV004315399] |
Chr18:13681708 [GRCh38] Chr18:13681707 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.352A>C (p.Lys118Gln) |
single nucleotide variant |
not specified [RCV004323020] |
Chr18:13681726 [GRCh38] Chr18:13681725 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 |
copy number loss |
See cases [RCV000512162] |
Chr18:1..15157836 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 |
copy number loss |
See cases [RCV000512537] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 |
copy number gain |
not provided [RCV000684052] |
Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 |
copy number gain |
not provided [RCV000684054] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 |
copy number gain |
not provided [RCV000684051] |
Chr18:958974..15181666 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.21(chr18:13582359-14776210)x3 |
copy number gain |
not provided [RCV000684021] |
Chr18:13582359..14776210 [GRCh37] Chr18:18p11.21 |
likely benign|uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 |
copy number loss |
not provided [RCV000752249] |
Chr18:124335..14139006 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 |
copy number loss |
See cases [RCV002285056] |
Chr18:136226..14632436 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.21(chr18:13582359-14773313)x3 |
copy number gain |
not provided [RCV000849957] |
Chr18:13582359..14773313 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 |
copy number loss |
not provided [RCV001258695] |
Chr18:7598173..15422644 [GRCh37] Chr18:18p11.23-11.1 |
pathogenic |
Single allele |
deletion |
Deletion of short arm of chromosome 18 [RCV001391667] |
Chr18:2656075..13885536 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
NM_152352.4(FAM210A):c.509G>T (p.Gly170Val) |
single nucleotide variant |
not specified [RCV004305714] |
Chr18:13671938 [GRCh38] Chr18:13671937 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 |
copy number loss |
Deletion of short arm of chromosome 18 [RCV001801193] |
Chr18:10501..15410398 [GRCh37] Chr18:18p11.32-11.1 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001787257] |
Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) |
copy number gain |
not specified [RCV002052613] |
Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 |
copy number gain |
not provided [RCV001832915] |
Chr18:136226..25252276 [GRCh37] Chr18:18p11.32-q12.1 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) |
copy number gain |
not specified [RCV002052611] |
Chr18:136226..14384326 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 |
copy number gain |
not provided [RCV002276058] |
Chr18:47390..14854037 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3 |
copy number gain |
not provided [RCV002472558] |
Chr18:11290617..15106305 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.581T>A (p.Phe194Tyr) |
single nucleotide variant |
not specified [RCV004246636] |
Chr18:13671866 [GRCh38] Chr18:13671865 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.122C>T (p.Ala41Val) |
single nucleotide variant |
not specified [RCV004223406] |
Chr18:13681956 [GRCh38] Chr18:13681955 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.213G>T (p.Leu71Phe) |
single nucleotide variant |
not specified [RCV004309266] |
Chr18:13681865 [GRCh38] Chr18:13681864 [GRCh37] Chr18:18p11.21 |
likely benign |
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) |
copy number loss |
Deletion of short arm of chromosome 18 [RCV003159575] |
Chr18:1..15400035 [GRCh37] Chr18:18p11.32-11.1 |
pathogenic |
NM_152352.4(FAM210A):c.571T>C (p.Tyr191His) |
single nucleotide variant |
not specified [RCV004266993] |
Chr18:13671876 [GRCh38] Chr18:13671875 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.487G>A (p.Val163Ile) |
single nucleotide variant |
not specified [RCV004272093] |
Chr18:13671960 [GRCh38] Chr18:13671959 [GRCh37] Chr18:18p11.21 |
likely benign |
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 |
NM_152352.4(FAM210A):c.290C>T (p.Ser97Leu) |
single nucleotide variant |
not specified [RCV004347639] |
Chr18:13681788 [GRCh38] Chr18:13681787 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.109C>T (p.Leu37Phe) |
single nucleotide variant |
not specified [RCV004348422] |
Chr18:13681969 [GRCh38] Chr18:13681968 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.20G>A (p.Arg7Gln) |
single nucleotide variant |
not specified [RCV004350524] |
Chr18:13682058 [GRCh38] Chr18:13682057 [GRCh37] Chr18:18p11.21 |
uncertain significance |
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 |
copy number gain |
not provided [RCV003485366] |
Chr18:136227..18521285 [GRCh37] Chr18:18p11.32-q11.1 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 |
copy number loss |
not provided [RCV003483328] |
Chr18:136227..14585159 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 |
copy number loss |
not specified [RCV003987287] |
Chr18:136226..15161581 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 |
copy number gain |
not specified [RCV003987271] |
Chr18:2922899..15198990 [GRCh37] Chr18:18p11.31-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 |
copy number gain |
not specified [RCV003987266] |
Chr18:136226..14148354 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 |
copy number loss |
not specified [RCV003987292] |
Chr18:136226..14352648 [GRCh37] Chr18:18p11.32-11.21 |
pathogenic |
NM_152352.4(FAM210A):c.349G>A (p.Asp117Asn) |
single nucleotide variant |
not specified [RCV004381195] |
Chr18:13681729 [GRCh38] Chr18:13681728 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.562C>T (p.Leu188Phe) |
single nucleotide variant |
not specified [RCV004381198] |
Chr18:13671885 [GRCh38] Chr18:13671884 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.506T>C (p.Ile169Thr) |
single nucleotide variant |
not specified [RCV004381197] |
Chr18:13671941 [GRCh38] Chr18:13671940 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.760C>T (p.Leu254Phe) |
single nucleotide variant |
not specified [RCV004381200] |
Chr18:13666539 [GRCh38] Chr18:13666538 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.662A>T (p.Tyr221Phe) |
single nucleotide variant |
not specified [RCV004381199] |
Chr18:13666637 [GRCh38] Chr18:13666636 [GRCh37] Chr18:18p11.21 |
uncertain significance |
NM_152352.4(FAM210A):c.680C>G (p.Pro227Arg) |
single nucleotide variant |
not specified [RCV004625478] |
Chr18:13666619 [GRCh38] Chr18:13666618 [GRCh37] Chr18:18p11.21 |
uncertain significance |