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 9p24.3-13.1(chr9:204193-38815478)x3 |
copy number gain |
See cases [RCV000050357] |
Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 |
copy number gain |
See cases [RCV000051106] |
Chr9:204193..38741440 [GRCh38] Chr9:204193..38741437 [GRCh37] Chr9:194193..38731437 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 |
copy number gain |
See cases [RCV000053703] |
Chr9:203993..38815619 [GRCh38] Chr9:203993..38815616 [GRCh37] Chr9:193993..38805616 [NCBI36] Chr9:9p24.3-13.1 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] |
Chr9:204193..34599437 [GRCh38] Chr9:204193..34599435 [GRCh37] Chr9:194193..34589435 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 |
copy number gain |
See cases [RCV000053707] |
Chr9:204193..33284638 [GRCh38] Chr9:204193..33284636 [GRCh37] Chr9:194193..33274636 [NCBI36] Chr9:9p24.3-13.3 |
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 9p24.3-13.1(chr9:220253-38815419)x3 |
copy number gain |
See cases [RCV000053747] |
Chr9:220253..38815419 [GRCh38] Chr9:220253..38815416 [GRCh37] Chr9:210253..38805416 [NCBI36] Chr9:9p24.3-13.1 |
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 9p23-21.1(chr9:9543538-30266463)x3 |
copy number gain |
See cases [RCV000053749] |
Chr9:9543538..30266463 [GRCh38] Chr9:9543538..30266461 [GRCh37] Chr9:9533538..30256461 [NCBI36] Chr9:9p23-21.1 |
pathogenic |
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] |
Chr9:13526091..34261642 [GRCh38] Chr9:13526090..34261640 [GRCh37] Chr9:13516090..34251640 [NCBI36] Chr9:9p23-13.3 |
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(chr9:204193-138179445) |
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 9p24.3-21.1(chr9:220257-29424848)x3 |
copy number gain |
See cases [RCV000134037] |
Chr9:220257..29424848 [GRCh38] Chr9:220257..29424846 [GRCh37] Chr9:210257..29414846 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 |
copy number gain |
See cases [RCV000135344] |
Chr9:13997..68401065 [GRCh38] Chr9:13997..71015981 [GRCh37] Chr9:3997..70205801 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 |
copy number gain |
See cases [RCV000136152] |
Chr9:193412..70630731 [GRCh38] Chr9:220253..73245647 [GRCh37] Chr9:210253..72435467 [NCBI36] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 |
copy number gain |
See cases [RCV000135954] |
Chr9:193412..74615913 [GRCh38] Chr9:204193..77230829 [GRCh37] Chr9:194193..76420649 [NCBI36] Chr9:9p24.3-q21.13 |
pathogenic |
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 |
copy number gain |
See cases [RCV000136680] |
Chr9:4661872..27661572 [GRCh38] Chr9:4661872..27661570 [GRCh37] Chr9:4651872..27651570 [NCBI36] Chr9:9p24.1-21.2 |
pathogenic |
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 |
copy number gain |
See cases [RCV000137741] |
Chr9:7162304..37038771 [GRCh38] Chr9:7162304..37038768 [GRCh37] Chr9:7152304..37028768 [NCBI36] Chr9:9p24.1-13.2 |
pathogenic |
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 |
copy number gain |
See cases [RCV000137888] |
Chr9:204104..66233120 [GRCh38] Chr9:204104..47212321 [GRCh37] Chr9:194104..47002141 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic|conflicting data from submitters |
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 9p24.3-q21.11(chr9:204104-67549861)x3 |
copy number gain |
See cases [RCV000139208] |
Chr9:204104..67549861 [GRCh38] Chr9:204104..66516698 [GRCh37] Chr9:194104..66256518 [NCBI36] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 |
copy number gain |
See cases [RCV000139015] |
Chr9:204104..34151476 [GRCh38] Chr9:204104..34151474 [GRCh37] Chr9:194104..34141474 [NCBI36] Chr9:9p24.3-13.3 |
pathogenic|likely benign |
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 |
copy number gain |
See cases [RCV000139126] |
Chr9:204104..38768294 [GRCh38] Chr9:204104..38768291 [GRCh37] Chr9:194104..38758291 [NCBI36] Chr9:9p24.3-13.1 |
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 9p22.2-q21.11(chr9:18344605-68257015) |
copy number gain |
See cases [RCV000140448] |
Chr9:18344605..68257015 [GRCh38] Chr9:18344603..68995221 [GRCh37] Chr9:18334603..68285041 [NCBI36] Chr9:9p22.2-q21.11 |
pathogenic |
GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1 |
copy number loss |
See cases [RCV000139905] |
Chr9:19564275..28106622 [GRCh38] Chr9:19564273..28106620 [GRCh37] Chr9:19554273..28096620 [NCBI36] Chr9:9p22.1-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 |
copy number gain |
See cases [RCV000139621] |
Chr9:204104..27963369 [GRCh38] Chr9:204104..27963367 [GRCh37] Chr9:194104..27953367 [NCBI36] Chr9:9p24.3-21.2 |
pathogenic |
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 |
copy number gain |
See cases [RCV000141904] |
Chr9:203861..88130444 [GRCh38] Chr9:203861..90745359 [GRCh37] Chr9:193861..89935179 [NCBI36] Chr9:9p24.3-q22.1 |
pathogenic |
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 9p24.3-21.1(chr9:203861-31423873)x4 |
copy number gain |
See cases [RCV000141662] |
Chr9:203861..31423873 [GRCh38] Chr9:203861..31423871 [GRCh37] Chr9:193861..31413871 [NCBI36] Chr9:9p24.3-21.1 |
pathogenic |
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 |
copy number gain |
See cases [RCV000143012] |
Chr9:193412..79877816 [GRCh38] Chr9:204104..82492731 [GRCh37] Chr9:194104..81682551 [NCBI36] Chr9:9p24.3-q21.31 |
pathogenic |
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) |
copy number gain |
See cases [RCV000143411] |
Chr9:203861..38381642 [GRCh38] Chr9:203861..38381639 [GRCh37] Chr9:193861..38371639 [NCBI36] Chr9:9p24.3-13.1 |
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 |
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 |
copy number gain |
See cases [RCV000148159] |
Chr9:204193..38815478 [GRCh38] Chr9:204193..38815475 [GRCh37] Chr9:194193..38805475 [NCBI36] Chr9:9p24.3-13.1 |
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 |
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 |
copy number gain |
See cases [RCV000240201] |
Chr9:163131..38763958 [GRCh37] Chr9:9p24.3-13.1 |
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 |
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 |
copy number gain |
See cases [RCV000240048] |
Chr9:213161..47212321 [GRCh37] Chr9:9p24.3-11.2 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:26947422-27109456)x3 |
copy number gain |
See cases [RCV000446028] |
Chr9:26947422..27109456 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 |
copy number gain |
See cases [RCV000239869] |
Chr9:213161..39092820 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 |
copy number gain |
See cases [RCV000449165] |
Chr9:203861..68188391 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
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 9p24.3-13.1(chr9:32396-39140211) |
copy number gain |
See cases [RCV000447246] |
Chr9:32396..39140211 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 |
copy number gain |
See cases [RCV000446521] |
Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 |
copy number gain |
See cases [RCV000448242] |
Chr9:13997..70919878 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 |
copy number gain |
See cases [RCV000448569] |
Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
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 9p22.2-21.1(chr9:17684434-30889762)x3 |
copy number gain |
See cases [RCV000510665] |
Chr9:17684434..30889762 [GRCh37] Chr9:9p22.2-21.1 |
pathogenic |
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 |
copy number gain |
See cases [RCV000510425] |
Chr9:5900425..30008330 [GRCh37] Chr9:9p24.1-21.1 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 |
copy number gain |
See cases [RCV000510864] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 |
copy number gain |
See cases [RCV000510986] |
Chr9:17132123..35567051 [GRCh37] Chr9:9p22.2-13.3 |
pathogenic |
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 |
copy number gain |
Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] |
Chr9:204193..44259464 [GRCh37] Chr9:9p24.3-11.2 |
likely pathogenic |
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 |
copy number gain |
See cases [RCV000512431] |
Chr9:203861..88189913 [GRCh37] Chr9:9p24.3-q21.33 |
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 9p24.3-13.1(chr9:203861-38787480)x3 |
copy number gain |
not provided [RCV000683172] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 |
copy number gain |
not provided [RCV000683176] |
Chr9:203861..72717793 [GRCh37] Chr9:9p24.3-q21.12 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 |
copy number gain |
not provided [RCV000683173] |
Chr9:203861..67983174 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 |
copy number gain |
not provided [RCV000683174] |
Chr9:203861..68262804 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 |
copy number gain |
not provided [RCV000683175] |
Chr9:203861..70985795 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:26978157-27055671)x3 |
copy number gain |
not provided [RCV000748334] |
Chr9:26978157..27055671 [GRCh37] Chr9:9p21.2 |
benign |
GRCh37/hg19 9p21.2(chr9:26984277-27009100)x3 |
copy number gain |
not provided [RCV000748335] |
Chr9:26984277..27009100 [GRCh37] Chr9:9p21.2 |
benign |
GRCh37/hg19 9p21.2(chr9:26984277-27055671)x3 |
copy number gain |
not provided [RCV000748336] |
Chr9:26984277..27055671 [GRCh37] Chr9:9p21.2 |
benign |
GRCh37/hg19 9p21.2(chr9:26993755-27009100)x3 |
copy number gain |
not provided [RCV000748337] |
Chr9:26993755..27009100 [GRCh37] Chr9:9p21.2 |
benign |
GRCh37/hg19 9p21.2(chr9:26993889-27009100)x3 |
copy number gain |
not provided [RCV000748338] |
Chr9:26993889..27009100 [GRCh37] Chr9:9p21.2 |
benign |
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 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 |
Single allele |
complex |
Glioma [RCV000754871] |
Chr9:23524426..87359888 [GRCh37] Chr9:9p21.3-q21.33 |
likely pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) |
copy number gain |
not provided [RCV000767644] |
Chr9:214309..39156958 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
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 |
GRCh37/hg19 9p21.2(chr9:26909294-27000990)x1 |
copy number loss |
not provided [RCV000849222] |
Chr9:26909294..27000990 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 |
copy number gain |
not provided [RCV000848175] |
Chr9:203861..38472979 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:26984926-27219845)x1 |
copy number loss |
not provided [RCV000848361] |
Chr9:26984926..27219845 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 |
copy number gain |
not provided [RCV000845815] |
Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 |
copy number gain |
not provided [RCV001006167] |
Chr9:203861..70984588 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:26604087-27065569)x3 |
copy number gain |
not provided [RCV001259522] |
Chr9:26604087..27065569 [GRCh37] Chr9:9p21.2 |
likely benign |
GRCh37/hg19 9p21.2(chr9:26545337-27494803)x3 |
copy number gain |
not provided [RCV001259523] |
Chr9:26545337..27494803 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p21.2(chr9:26461273-27541041)x3 |
copy number gain |
not provided [RCV001259524] |
Chr9:26461273..27541041 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) |
copy number loss |
Distal tetrasomy 15q [RCV002280776] |
Chr9:19356861..119513311 [GRCh37] Chr9:9p22.1-q33.1 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) |
copy number gain |
Bradycardia [RCV002280662] |
Chr9:203861..68342786 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
NM_025103.4(IFT74):c.588-9407C>G |
single nucleotide variant |
Bardet-Biedl syndrome 20 [RCV001335135] |
Chr9:26999613 [GRCh38] Chr9:26999611 [GRCh37] Chr9:9p21.2 |
pathogenic |
NC_000009.11:g.12246100_101559378inv |
inversion |
Recurrent spontaneous abortion [RCV000999471] |
Chr9:12246100..101559378 [GRCh37] Chr9:9p23-q22.33 |
likely pathogenic |
NM_022901.3(LRRC19):c.158A>C (p.Asp53Ala) |
single nucleotide variant |
not specified [RCV004328933] |
Chr9:26998165 [GRCh38] Chr9:26998163 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) |
copy number gain |
Tetrasomy 9p [RCV002280656] |
Chr9:203861..67986965 [GRCh37] Chr9:9p24.3-q13 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) |
copy number gain |
not specified [RCV002053818] |
Chr9:203861..38787480 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) |
copy number gain |
not specified [RCV002053820] |
Chr9:203861..84155399 [GRCh37] Chr9:9p24.3-q21.32 |
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 |
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) |
copy number gain |
not specified [RCV002053827] |
Chr9:676264..33743670 [GRCh37] Chr9:9p24.3-13.3 |
pathogenic |
GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948) |
copy number loss |
not specified [RCV002053848] |
Chr9:22003967..30712948 [GRCh37] Chr9:9p21.3-21.1 |
uncertain significance |
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) |
copy number gain |
not specified [RCV002053819] |
Chr9:203861..69002883 [GRCh37] Chr9:9p24.3-q21.11 |
pathogenic |
GRCh37/hg19 9p21.2(chr9:27000339-27085457) |
copy number loss |
not specified [RCV002053849] |
Chr9:27000339..27085457 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26984235)_(27173380_?)dup |
duplication |
not provided [RCV002036630] |
Chr9:26984235..27173380 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26905509)_(27573526_?)dup |
duplication |
not provided [RCV001916216] |
Chr9:26905509..27573526 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26984235)_(27009176_?)del |
deletion |
not provided [RCV003122524] |
Chr9:26984235..27009176 [GRCh37] Chr9:9p21.2 |
pathogenic |
NC_000009.11:g.(?_26905509)_(27018705_?)dup |
duplication |
not provided [RCV003122525] |
Chr9:26905509..27018705 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26946875)_(27109660_?)dup |
duplication |
not provided [RCV003122324] |
Chr9:26946875..27109660 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26934991)_(27220163_?)dup |
duplication |
not provided [RCV003122325] |
Chr9:26934991..27220163 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 |
copy number gain |
MISSED ABORTION [RCV002282974] |
Chr9:203861..35903398 [GRCh37] Chr9:9p24.3-13.3 |
pathogenic |
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286608] |
Chr9:48827..39154913 [GRCh37] Chr9:9p24.3-13.1 |
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_022901.3(LRRC19):c.13G>A (p.Gly5Ser) |
single nucleotide variant |
not specified [RCV004104890] |
Chr9:26999682 [GRCh38] Chr9:26999680 [GRCh37] Chr9:9p21.2 |
likely benign |
NM_022901.3(LRRC19):c.214T>C (p.Tyr72His) |
single nucleotide variant |
not specified [RCV004135391] |
Chr9:26998109 [GRCh38] Chr9:26998107 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.586G>T (p.Val196Leu) |
single nucleotide variant |
not specified [RCV004107947] |
Chr9:26997737 [GRCh38] Chr9:26997735 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.827T>G (p.Val276Gly) |
single nucleotide variant |
not specified [RCV004224981] |
Chr9:26995807 [GRCh38] Chr9:26995805 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.1036C>T (p.His346Tyr) |
single nucleotide variant |
not specified [RCV004221222] |
Chr9:26995598 [GRCh38] Chr9:26995596 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.866T>C (p.Ile289Thr) |
single nucleotide variant |
not specified [RCV004130820] |
Chr9:26995768 [GRCh38] Chr9:26995766 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.367C>G (p.Leu123Val) |
single nucleotide variant |
not specified [RCV004173297] |
Chr9:26997956 [GRCh38] Chr9:26997954 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.632G>A (p.Ser211Asn) |
single nucleotide variant |
not specified [RCV004938412] |
Chr9:26996463 [GRCh38] Chr9:26996461 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.461G>A (p.Gly154Asp) |
single nucleotide variant |
not specified [RCV004301374] |
Chr9:26997862 [GRCh38] Chr9:26997860 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.553T>C (p.Phe185Leu) |
single nucleotide variant |
not specified [RCV004256082] |
Chr9:26997770 [GRCh38] Chr9:26997768 [GRCh37] Chr9:9p21.2 |
likely benign |
NM_022901.3(LRRC19):c.871A>G (p.Ile291Val) |
single nucleotide variant |
not specified [RCV004329815] |
Chr9:26995763 [GRCh38] Chr9:26995761 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.720T>C (p.Ile240=) |
single nucleotide variant |
not provided [RCV003327283] |
Chr9:26996375 [GRCh38] Chr9:26996373 [GRCh37] Chr9:9p21.2 |
likely benign |
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 |
copy number gain |
not provided [RCV003484765] |
Chr9:1475882..38771831 [GRCh37] Chr9:9p24.3-13.1 |
pathogenic |
NM_022901.3(LRRC19):c.623A>C (p.Tyr208Ser) |
single nucleotide variant |
not specified [RCV004413330] |
Chr9:26996472 [GRCh38] Chr9:26996470 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.975C>A (p.Ser325Arg) |
single nucleotide variant |
not specified [RCV004413331] |
Chr9:26995659 [GRCh38] Chr9:26995657 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.1082T>C (p.Ile361Thr) |
single nucleotide variant |
not specified [RCV004413326] |
Chr9:26995552 [GRCh38] Chr9:26995550 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.323C>T (p.Ser108Phe) |
single nucleotide variant |
not specified [RCV004413328] |
Chr9:26998000 [GRCh38] Chr9:26997998 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.138G>T (p.Lys46Asn) |
single nucleotide variant |
not specified [RCV004413327] |
Chr9:26998185 [GRCh38] Chr9:26998183 [GRCh37] Chr9:9p21.2 |
likely benign |
NM_022901.3(LRRC19):c.695C>T (p.Ser232Leu) |
single nucleotide variant |
not specified [RCV004644647] |
Chr9:26996400 [GRCh38] Chr9:26996398 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NC_000009.11:g.(?_26978106)_(27029122_?)del |
deletion |
not provided [RCV004582072] |
Chr9:26978106..27029122 [GRCh37] Chr9:9p21.2 |
pathogenic |
NM_022901.3(LRRC19):c.958T>G (p.Phe320Val) |
single nucleotide variant |
not specified [RCV004634167] |
Chr9:26995676 [GRCh38] Chr9:26995674 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.836C>G (p.Thr279Ser) |
single nucleotide variant |
not specified [RCV004644645] |
Chr9:26995798 [GRCh38] Chr9:26995796 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.806G>T (p.Ser269Ile) |
single nucleotide variant |
not specified [RCV004644646] |
Chr9:26995828 [GRCh38] Chr9:26995826 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.424G>T (p.Val142Leu) |
single nucleotide variant |
not provided [RCV004599163] |
Chr9:26997899 [GRCh38] Chr9:26997897 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.308A>T (p.Asn103Ile) |
single nucleotide variant |
not specified [RCV004938413] |
Chr9:26998015 [GRCh38] Chr9:26998013 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.263T>C (p.Leu88Ser) |
single nucleotide variant |
not specified [RCV004938415] |
Chr9:26998060 [GRCh38] Chr9:26998058 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.85G>T (p.Val29Phe) |
single nucleotide variant |
not specified [RCV004938414] |
Chr9:26998238 [GRCh38] Chr9:26998236 [GRCh37] Chr9:9p21.2 |
uncertain significance |
GRCh37/hg19 9p21.2(chr9:26393032-27051077)x3 |
copy number gain |
not provided [RCV004819542] |
Chr9:26393032..27051077 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.741T>G (p.Asn247Lys) |
single nucleotide variant |
not specified [RCV004930133] |
Chr9:26996354 [GRCh38] Chr9:26996352 [GRCh37] Chr9:9p21.2 |
uncertain significance |
NM_022901.3(LRRC19):c.353T>C (p.Leu118Ser) |
single nucleotide variant |
not provided [RCV005244514] |
Chr9:26997970 [GRCh38] Chr9:26997968 [GRCh37] Chr9:9p21.2 |
likely benign |
NM_022901.3(LRRC19):c.1052A>T (p.Asp351Val) |
single nucleotide variant |
not provided [RCV005244559] |
Chr9:26995582 [GRCh38] Chr9:26995580 [GRCh37] Chr9:9p21.2 |
likely benign |
NM_022901.3(LRRC19):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
not provided [RCV005244274] |
Chr9:26995823 [GRCh38] Chr9:26995821 [GRCh37] Chr9:9p21.2 |
likely benign |