GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 |
copy number gain |
See cases [RCV000051097] |
Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 |
copy number gain |
See cases [RCV000051690] |
Chr3:52066..20280127 [GRCh38] Chr3:93749..20321619 [GRCh37] Chr3:68749..20296623 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] |
Chr3:52266..29248782 [GRCh38] Chr3:93949..29290273 [GRCh37] Chr3:68949..29265277 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 |
copy number gain |
See cases [RCV000051719] |
Chr3:63843..19510600 [GRCh38] Chr3:105526..19552092 [GRCh37] Chr3:80526..19527096 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 |
copy number gain |
See cases [RCV000051720] |
Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
NM_022340.3(RBSN):c.2229C>T (p.Ile743=) |
single nucleotide variant |
Malignant melanoma [RCV000065879] |
Chr3:15073908 [GRCh38] Chr3:15115415 [GRCh37] Chr3:15090419 [NCBI36] Chr3:3p25.1 |
not provided |
NM_022340.3(RBSN):c.156C>T (p.Val52=) |
single nucleotide variant |
Malignant melanoma [RCV000060734] |
Chr3:15090532 [GRCh38] Chr3:15132039 [GRCh37] Chr3:15107043 [NCBI36] Chr3:3p25.1 |
not provided |
NM_022340.4(RBSN):c.1273G>A (p.Gly425Arg) |
single nucleotide variant |
not provided [RCV000144454] |
Chr3:15074864 [GRCh38] Chr3:15116371 [GRCh37] Chr3:3p25.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 |
copy number gain |
See cases [RCV000138004] |
Chr3:32241..30064208 [GRCh38] Chr3:73914..30105699 [GRCh37] Chr3:48914..30080703 [NCBI36] Chr3:3p26.3-24.1 |
pathogenic |
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 |
copy number gain |
See cases [RCV000137941] |
Chr3:32241..20334387 [GRCh38] Chr3:73914..20375879 [GRCh37] Chr3:48914..20350883 [NCBI36] Chr3:3p26.3-24.3 |
pathogenic |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 |
copy number gain |
See cases [RCV000141810] |
Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4 |
copy number gain |
See cases [RCV000143767] |
Chr3:14360747..21656134 [GRCh38] Chr3:14402247..21697626 [GRCh37] Chr3:14377251..21672630 [NCBI36] Chr3:3p25.1-24.3 |
pathogenic |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 |
copy number gain |
See cases [RCV000447247] |
Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 |
copy number gain |
See cases [RCV000448528] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 |
copy number gain |
See cases [RCV000510429] |
Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 |
copy number gain |
See cases [RCV000511463] |
Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1 |
copy number loss |
See cases [RCV000511037] |
Chr3:13720222..17808236 [GRCh37] Chr3:3p25.1-24.3 |
likely pathogenic |
NM_022340.4(RBSN):c.2134G>A (p.Glu712Lys) |
single nucleotide variant |
not specified [RCV004317993] |
Chr3:15074003 [GRCh38] Chr3:15115510 [GRCh37] Chr3:3p25.1 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_022340.4(RBSN):c.2273G>A (p.Arg758His) |
single nucleotide variant |
not specified [RCV004304380] |
Chr3:15073864 [GRCh38] Chr3:15115371 [GRCh37] Chr3:3p25.1 |
uncertain significance |
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 |
copy number gain |
not provided [RCV000682215] |
Chr3:1897972..19519085 [GRCh37] Chr3:3p26.3-24.3 |
pathogenic |
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 |
copy number gain |
not provided [RCV000682233] |
Chr3:5173870..16760262 [GRCh37] Chr3:3p26.1-24.3 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 |
copy number gain |
not provided [RCV000742260] |
Chr3:13276005..24295240 [GRCh37] Chr3:3p25.2-24.2 |
pathogenic |
NM_022340.4(RBSN):c.1197G>A (p.Val399=) |
single nucleotide variant |
not provided [RCV000899303] |
Chr3:15075615 [GRCh38] Chr3:15117122 [GRCh37] Chr3:3p25.1 |
benign |
NM_022340.4(RBSN):c.1060C>T (p.Leu354=) |
single nucleotide variant |
not provided [RCV000939757] |
Chr3:15077103 [GRCh38] Chr3:15118610 [GRCh37] Chr3:3p25.1 |
likely benign |
NM_022340.4(RBSN):c.1482C>T (p.Asp494=) |
single nucleotide variant |
not provided [RCV000942941] |
Chr3:15074655 [GRCh38] Chr3:15116162 [GRCh37] Chr3:3p25.1 |
likely benign |
NM_022340.4(RBSN):c.1266G>A (p.Ala422=) |
single nucleotide variant |
not provided [RCV000961437] |
Chr3:15074871 [GRCh38] Chr3:15116378 [GRCh37] Chr3:3p25.1 |
benign |
GRCh37/hg19 3p25.1(chr3:15091247-15212820)x3 |
copy number gain |
not provided [RCV000846123] |
Chr3:15091247..15212820 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.840+10G>A |
single nucleotide variant |
not provided [RCV000958648] |
Chr3:15082357 [GRCh38] Chr3:15123864 [GRCh37] Chr3:3p25.1 |
benign |
NM_022340.4(RBSN):c.840+7C>T |
single nucleotide variant |
not provided [RCV000967994] |
Chr3:15082360 [GRCh38] Chr3:15123867 [GRCh37] Chr3:3p25.1 |
benign |
NM_022340.4(RBSN):c.1065G>A (p.Gln355=) |
single nucleotide variant |
not provided [RCV000974966] |
Chr3:15077098 [GRCh38] Chr3:15118605 [GRCh37] Chr3:3p25.1 |
benign |
NM_022340.4(RBSN):c.2082C>T (p.Asp694=) |
single nucleotide variant |
not provided [RCV000956073] |
Chr3:15074055 [GRCh38] Chr3:15115562 [GRCh37] Chr3:3p25.1 |
benign |
NM_022340.4(RBSN):c.2268C>T (p.Cys756=) |
single nucleotide variant |
not provided [RCV000891240] |
Chr3:15073869 [GRCh38] Chr3:15115376 [GRCh37] Chr3:3p25.1 |
benign|likely benign |
Single allele |
deletion |
3p- syndrome [RCV002280352] |
Chr3:13371737..20095506 [GRCh38] Chr3:3p25.1-24.3 |
pathogenic |
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) |
copy number gain |
not specified [RCV002053299] |
Chr3:61891..24432821 [GRCh37] Chr3:3p26.3-24.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) |
copy number gain |
not specified [RCV002053300] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3 |
copy number gain |
not provided [RCV001834333] |
Chr3:15085863..16402392 [GRCh37] Chr3:3p25.1-24.3 |
uncertain significance |
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 |
copy number gain |
See cases [RCV002287839] |
Chr3:13836340..25357427 [GRCh37] Chr3:3p25.1-24.2 |
pathogenic |
NM_022340.4(RBSN):c.2005G>A (p.Glu669Lys) |
single nucleotide variant |
not specified [RCV004310466] |
Chr3:15074132 [GRCh38] Chr3:15115639 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1634G>A (p.Arg545Gln) |
single nucleotide variant |
not specified [RCV004294294] |
Chr3:15074503 [GRCh38] Chr3:15116010 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1730C>A (p.Ser577Tyr) |
single nucleotide variant |
not specified [RCV004162258] |
Chr3:15074407 [GRCh38] Chr3:15115914 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.527G>A (p.Arg176His) |
single nucleotide variant |
not specified [RCV004113806] |
Chr3:15084806 [GRCh38] Chr3:15126313 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2038A>T (p.Ile680Phe) |
single nucleotide variant |
not specified [RCV004212791] |
Chr3:15074099 [GRCh38] Chr3:15115606 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2007G>C (p.Glu669Asp) |
single nucleotide variant |
not specified [RCV004194283] |
Chr3:15074130 [GRCh38] Chr3:15115637 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1570A>G (p.Met524Val) |
single nucleotide variant |
not specified [RCV004116630] |
Chr3:15074567 [GRCh38] Chr3:15116074 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.749G>A (p.Arg250His) |
single nucleotide variant |
not specified [RCV004100844] |
Chr3:15082458 [GRCh38] Chr3:15123965 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.557T>C (p.Met186Thr) |
single nucleotide variant |
not provided [RCV003435910]|not specified [RCV004138903] |
Chr3:15084776 [GRCh38] Chr3:15126283 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1006A>G (p.Ile336Val) |
single nucleotide variant |
not specified [RCV004112691] |
Chr3:15077157 [GRCh38] Chr3:15118664 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2341G>T (p.Gly781Trp) |
single nucleotide variant |
not specified [RCV004158644] |
Chr3:15073796 [GRCh38] Chr3:15115303 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1945G>T (p.Val649Phe) |
single nucleotide variant |
not specified [RCV004204203] |
Chr3:15074192 [GRCh38] Chr3:15115699 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1753G>T (p.Ala585Ser) |
single nucleotide variant |
not specified [RCV004120377] |
Chr3:15074384 [GRCh38] Chr3:15115891 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1972C>G (p.Leu658Val) |
single nucleotide variant |
not specified [RCV004140267] |
Chr3:15074165 [GRCh38] Chr3:15115672 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1582C>T (p.Arg528Trp) |
single nucleotide variant |
not specified [RCV004176780] |
Chr3:15074555 [GRCh38] Chr3:15116062 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.539G>A (p.Arg180His) |
single nucleotide variant |
not specified [RCV004128356] |
Chr3:15084794 [GRCh38] Chr3:15126301 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1427C>T (p.Ala476Val) |
single nucleotide variant |
not specified [RCV004225024] |
Chr3:15074710 [GRCh38] Chr3:15116217 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1255G>C (p.Ala419Pro) |
single nucleotide variant |
not specified [RCV004218245] |
Chr3:15074882 [GRCh38] Chr3:15116389 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.946A>G (p.Ser316Gly) |
single nucleotide variant |
not specified [RCV004077269] |
Chr3:15078127 [GRCh38] Chr3:15119634 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.700A>G (p.Met234Val) |
single nucleotide variant |
not specified [RCV004188635] |
Chr3:15082507 [GRCh38] Chr3:15124014 [GRCh37] Chr3:3p25.1 |
likely benign |
NM_022340.4(RBSN):c.2308C>T (p.Arg770Trp) |
single nucleotide variant |
not specified [RCV004182468] |
Chr3:15073829 [GRCh38] Chr3:15115336 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2229C>G (p.Ile743Met) |
single nucleotide variant |
not specified [RCV004073941] |
Chr3:15073908 [GRCh38] Chr3:15115415 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.974T>C (p.Val325Ala) |
single nucleotide variant |
not specified [RCV004177398] |
Chr3:15078099 [GRCh38] Chr3:15119606 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2111C>T (p.Pro704Leu) |
single nucleotide variant |
not specified [RCV004175243] |
Chr3:15074026 [GRCh38] Chr3:15115533 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1984A>G (p.Asn662Asp) |
single nucleotide variant |
not specified [RCV004212619] |
Chr3:15074153 [GRCh38] Chr3:15115660 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.100G>C (p.Glu34Gln) |
single nucleotide variant |
not specified [RCV004149233] |
Chr3:15096021 [GRCh38] Chr3:15137528 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1967G>C (p.Arg656Pro) |
single nucleotide variant |
not specified [RCV004258294] |
Chr3:15074170 [GRCh38] Chr3:15115677 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1631C>T (p.Thr544Ile) |
single nucleotide variant |
not specified [RCV004264528] |
Chr3:15074506 [GRCh38] Chr3:15116013 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.743G>A (p.Arg248Gln) |
single nucleotide variant |
not specified [RCV004249414] |
Chr3:15082464 [GRCh38] Chr3:15123971 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1265C>T (p.Ala422Val) |
single nucleotide variant |
not specified [RCV004248921] |
Chr3:15074872 [GRCh38] Chr3:15116379 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1435A>G (p.Met479Val) |
single nucleotide variant |
not specified [RCV004252481] |
Chr3:15074702 [GRCh38] Chr3:15116209 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.856A>G (p.Met286Val) |
single nucleotide variant |
not specified [RCV004346934] |
Chr3:15080787 [GRCh38] Chr3:15122294 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.412A>C (p.Asn138His) |
single nucleotide variant |
not specified [RCV004353004] |
Chr3:15085024 [GRCh38] Chr3:15126531 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1291C>T (p.Arg431Cys) |
single nucleotide variant |
not specified [RCV004336856] |
Chr3:15074846 [GRCh38] Chr3:15116353 [GRCh37] Chr3:3p25.1 |
uncertain significance |
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 |
copy number gain |
not provided [RCV003484107] |
Chr3:310747..28297447 [GRCh37] Chr3:3p26.3-24.1 |
pathogenic |
NM_022340.4(RBSN):c.2322C>T (p.His774=) |
single nucleotide variant |
not provided [RCV003437711] |
Chr3:15073815 [GRCh38] Chr3:15115322 [GRCh37] Chr3:3p25.1 |
likely benign |
NM_022340.4(RBSN):c.1577G>A (p.Arg526His) |
single nucleotide variant |
RBSN-related disorder [RCV003392927] |
Chr3:15074560 [GRCh38] Chr3:15116067 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.215_216del (p.Glu72fs) |
microsatellite |
not provided [RCV003437712] |
Chr3:15090472..15090473 [GRCh38] Chr3:15131979..15131980 [GRCh37] Chr3:3p25.1 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 |
copy number gain |
not specified [RCV003986437] |
Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_022340.4(RBSN):c.1606C>G (p.Gln536Glu) |
single nucleotide variant |
not specified [RCV004443550] |
Chr3:15074531 [GRCh38] Chr3:15116038 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2348C>G (p.Thr783Ser) |
single nucleotide variant |
not specified [RCV004443558] |
Chr3:15073789 [GRCh38] Chr3:15115296 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.353T>G (p.Val118Gly) |
single nucleotide variant |
not specified [RCV004443559] |
Chr3:15085898 [GRCh38] Chr3:15127405 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1639C>T (p.Arg547Trp) |
single nucleotide variant |
not specified [RCV004443551] |
Chr3:15074498 [GRCh38] Chr3:15116005 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2060C>T (p.Pro687Leu) |
single nucleotide variant |
not specified [RCV004443555] |
Chr3:15074077 [GRCh38] Chr3:15115584 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1991T>C (p.Phe664Ser) |
single nucleotide variant |
not specified [RCV004443553] |
Chr3:15074146 [GRCh38] Chr3:15115653 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.2165T>C (p.Met722Thr) |
single nucleotide variant |
not specified [RCV004443556] |
Chr3:15073972 [GRCh38] Chr3:15115479 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1090C>T (p.Leu364Phe) |
single nucleotide variant |
not specified [RCV004443548] |
Chr3:15077073 [GRCh38] Chr3:15118580 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1469G>A (p.Arg490Gln) |
single nucleotide variant |
not specified [RCV004443549] |
Chr3:15074668 [GRCh38] Chr3:15116175 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1816G>A (p.Val606Ile) |
single nucleotide variant |
not specified [RCV004443552] |
Chr3:15074321 [GRCh38] Chr3:15115828 [GRCh37] Chr3:3p25.1 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 |
copy number gain |
not provided [RCV004577500] |
Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_022340.4(RBSN):c.856A>C (p.Met286Leu) |
single nucleotide variant |
not specified [RCV004660929] |
Chr3:15080787 [GRCh38] Chr3:15122294 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.659C>T (p.Pro220Leu) |
single nucleotide variant |
not specified [RCV004660930] |
Chr3:15082548 [GRCh38] Chr3:15124055 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.547G>A (p.Gly183Arg) |
single nucleotide variant |
KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME [RCV004701219] |
Chr3:15084786 [GRCh38] Chr3:15126293 [GRCh37] Chr3:3p25.1 |
pathogenic |
NM_022340.4(RBSN):c.761A>G (p.His254Arg) |
single nucleotide variant |
not specified [RCV004671745] |
Chr3:15082446 [GRCh38] Chr3:15123953 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1724T>C (p.Leu575Pro) |
single nucleotide variant |
not specified [RCV004660927] |
Chr3:15074413 [GRCh38] Chr3:15115920 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.1966C>T (p.Arg656Cys) |
single nucleotide variant |
not specified [RCV004660928] |
Chr3:15074171 [GRCh38] Chr3:15115678 [GRCh37] Chr3:3p25.1 |
uncertain significance |
NM_022340.4(RBSN):c.538C>G (p.Arg180Gly) |
single nucleotide variant |
KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME [RCV004701220] |
Chr3:15084795 [GRCh38] Chr3:15126302 [GRCh37] Chr3:3p25.1 |
pathogenic |
NM_022340.4(RBSN):c.-152G>A |
single nucleotide variant |
not provided [RCV004722471] |
Chr3:15096272 [GRCh38] Chr3:15137779 [GRCh37] Chr3:3p25.1 |
likely benign |
NM_022340.4(RBSN):c.289G>C (p.Gly97Arg) AND MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, |
single nucleotide variant |
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES [RCV004701218] |
Chr3:15090399 [GRCh38] Chr3:15131906 [GRCh37] Chr3:3p25.1 |
pathogenic |
NM_022340.4(RBSN):c.2285T>C (p.Val762Ala) |
single nucleotide variant |
not specified [RCV004350681] |
Chr3:15073852 [GRCh38] Chr3:15115359 [GRCh37] Chr3:3p25.1 |
uncertain significance |