NM_003392.4(WNT5A):c.544T>C (p.Cys182Arg) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000022695] |
Chr3:55474477 [GRCh38] Chr3:55508505 [GRCh37] Chr3:3p14.3 |
pathogenic |
NM_003392.4(WNT5A):c.248G>C (p.Cys83Ser) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000022696] |
Chr3:55479457 [GRCh38] Chr3:55513485 [GRCh37] Chr3:3p14.3 |
pathogenic |
NM_003392.4(WNT5A):c.427G>A (p.Ala143Thr) |
single nucleotide variant |
not provided [RCV000729122] |
Chr3:55474594 [GRCh38] Chr3:55508622 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.487_492dup (p.Gly163_Cys164dup) |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000577908] |
Chr3:55474528..55474529 [GRCh38] Chr3:55508556..55508557 [GRCh37] Chr3:3p14.3 |
likely pathogenic |
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 |
copy number loss |
See cases [RCV000051081] |
Chr3:54045018..66060461 [GRCh38] Chr3:54079045..66046136 [GRCh37] Chr3:54054085..66021176 [NCBI36] Chr3:3p21.1-14.1 |
pathogenic |
GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1 |
copy number loss |
See cases [RCV000053929] |
Chr3:53287477..57025368 [GRCh38] Chr3:53321495..57059396 [GRCh37] Chr3:53296535..57034436 [NCBI36] Chr3:3p21.1-14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.588C>T (p.Phe196=) |
single nucleotide variant |
not provided [RCV000951253]|not specified [RCV000178191] |
Chr3:55474433 [GRCh38] Chr3:55508461 [GRCh37] Chr3:3p14.3 |
benign|likely benign |
NM_003392.4(WNT5A):c.140+14A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147982] |
Chr3:55480771 [GRCh38] Chr3:55514799 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.141-8C>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147983]|not provided [RCV000924585] |
Chr3:55479572 [GRCh38] Chr3:55513600 [GRCh37] Chr3:3p14.3 |
likely benign|uncertain significance |
NM_003392.4(WNT5A):c.141-9C>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147984]|not provided [RCV000897286] |
Chr3:55479573 [GRCh38] Chr3:55513601 [GRCh37] Chr3:3p14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_003392.4(WNT5A):c.141-9C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147985] |
Chr3:55479573 [GRCh38] Chr3:55513601 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.391+11A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147986] |
Chr3:55479303 [GRCh38] Chr3:55513331 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.405G>T (p.Thr135=) |
single nucleotide variant |
not specified [RCV000147987] |
Chr3:55474616 [GRCh38] Chr3:55508644 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.487G>C (p.Gly163Arg) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000147988] |
Chr3:55474534 [GRCh38] Chr3:55508562 [GRCh37] Chr3:3p14.3 |
likely pathogenic|uncertain significance |
NM_003392.4(WNT5A):c.257A>G (p.Tyr86Cys) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000169740] |
Chr3:55479448 [GRCh38] Chr3:55513476 [GRCh37] Chr3:3p14.3 |
pathogenic|not provided |
NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000169741] |
Chr3:55479499 [GRCh38] Chr3:55513527 [GRCh37] Chr3:3p14.3 |
pathogenic|uncertain significance|not provided |
NM_003392.4(WNT5A):c.-393C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000264674] |
Chr3:55487378 [GRCh38] Chr3:55521406 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*810del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000263502] |
Chr3:55469282 [GRCh38] Chr3:55503310 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.545G>C (p.Cys182Ser) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000192022] |
Chr3:55474476 [GRCh38] Chr3:55508504 [GRCh37] Chr3:3p14.3 |
pathogenic |
NM_003392.4(WNT5A):c.141-8C>T |
single nucleotide variant |
not provided [RCV000317209] |
Chr3:55479572 [GRCh38] Chr3:55513600 [GRCh37] Chr3:3p14.3 |
likely benign|uncertain significance |
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 |
copy number loss |
See cases [RCV000239886] |
Chr3:52086599..59689209 [GRCh37] Chr3:3p21.2-14.2 |
pathogenic |
NM_003392.4(WNT5A):c.-329C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000268067] |
Chr3:55487314 [GRCh38] Chr3:55521342 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*2655G>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000285963] |
Chr3:55467437 [GRCh38] Chr3:55501465 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*2728del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000282387] |
Chr3:55467364 [GRCh38] Chr3:55501392 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*3473T>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000268534] |
Chr3:55466619 [GRCh38] Chr3:55500647 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1655G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000284419] |
Chr3:55468437 [GRCh38] Chr3:55502465 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*2945A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000275582] |
Chr3:55467147 [GRCh38] Chr3:55501175 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*1952_*1953del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000277253] |
Chr3:55468139..55468140 [GRCh38] Chr3:55502167..55502168 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*564C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000267296] |
Chr3:55469528 [GRCh38] Chr3:55503556 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1103C>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000298819] |
Chr3:55468989 [GRCh38] Chr3:55503017 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1277G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000314069] |
Chr3:55468815 [GRCh38] Chr3:55502843 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3721C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000299951] |
Chr3:55466371 [GRCh38] Chr3:55500399 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1657T>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000376073] |
Chr3:55468435 [GRCh38] Chr3:55502463 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3661C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000398532] |
Chr3:55466431 [GRCh38] Chr3:55500459 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1177T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000399225] |
Chr3:55468915 [GRCh38] Chr3:55502943 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.-592G>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000316025] |
Chr3:55487577 [GRCh38] Chr3:55521605 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*3864T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000334930] |
Chr3:55466228 [GRCh38] Chr3:55500256 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1869C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000354502] |
Chr3:55468223 [GRCh38] Chr3:55502251 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*2010C>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000399300] |
Chr3:55468082 [GRCh38] Chr3:55502110 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*978G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000355932] |
Chr3:55469114 [GRCh38] Chr3:55503142 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.983C>T (p.Thr328Met) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000289666] |
Chr3:55470252 [GRCh38] Chr3:55504280 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3647T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000303615] |
Chr3:55466445 [GRCh38] Chr3:55500473 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1684T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000319620] |
Chr3:55468408 [GRCh38] Chr3:55502436 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3712A>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000338759] |
Chr3:55466380 [GRCh38] Chr3:55500408 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*579A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000359632] |
Chr3:55469513 [GRCh38] Chr3:55503541 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*38C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000381735] |
Chr3:55470054 [GRCh38] Chr3:55504082 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*2711_*2713del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000339679] |
Chr3:55467379..55467381 [GRCh38] Chr3:55501407..55501409 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*3577G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000360699] |
Chr3:55466515 [GRCh38] Chr3:55500543 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_001256105.1(WNT5A):c.*1428_*1429TA[6] |
microsatellite |
Robinow syndrome, autosomal dominant 1 [RCV000291354] |
Chr3:55468651..55468652 [GRCh38] Chr3:55502679..55502680 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*598A>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000321198] |
Chr3:55469494 [GRCh38] Chr3:55503522 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*3118C>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000385334] |
Chr3:55466974 [GRCh38] Chr3:55501002 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*1561G>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000323048] |
Chr3:55468531 [GRCh38] Chr3:55502559 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.-292G>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000362902] |
Chr3:55487277 [GRCh38] Chr3:55521305 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*3420T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000307258] |
Chr3:55466672 [GRCh38] Chr3:55500700 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*245A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000324765] |
Chr3:55469847 [GRCh38] Chr3:55503875 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3195del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000364401] |
Chr3:55466897 [GRCh38] Chr3:55500925 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*2011G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000365142] |
Chr3:55468081 [GRCh38] Chr3:55502109 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*2053C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000308183] |
Chr3:55468039 [GRCh38] Chr3:55502067 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*4075A>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000388446] |
Chr3:55466017 [GRCh38] Chr3:55500045 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*4339A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000326383] |
Chr3:55465753 [GRCh38] Chr3:55499781 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*2878T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000389778] |
Chr3:55467214 [GRCh38] Chr3:55501242 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*3125T>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000328427] |
Chr3:55466967 [GRCh38] Chr3:55500995 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.807G>A (p.Lys269=) |
single nucleotide variant |
not provided [RCV000943395] |
Chr3:55470428 [GRCh38] Chr3:55504456 [GRCh37] Chr3:3p14.3 |
benign|likely benign |
NM_003392.4(WNT5A):c.-61G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000348054] |
Chr3:55487046 [GRCh38] Chr3:55521074 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1276T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000371070] |
Chr3:55468816 [GRCh38] Chr3:55502844 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*2276dup |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000394572] |
Chr3:55467815..55467816 [GRCh38] Chr3:55501843..55501844 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.*2711del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000394544] |
Chr3:55467381 [GRCh38] Chr3:55501409 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.110C>G (p.Ala37Gly) |
single nucleotide variant |
not provided [RCV000900737] |
Chr3:55480815 [GRCh38] Chr3:55514843 [GRCh37] Chr3:3p14.3 |
benign|likely benign |
NM_003392.4(WNT5A):c.*3745C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000395466] |
Chr3:55466347 [GRCh38] Chr3:55500375 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*1357A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000396020] |
Chr3:55468735 [GRCh38] Chr3:55502763 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_001256105.1(WNT5A):c.*1428_*1429TA[8] |
microsatellite |
Robinow syndrome, autosomal dominant 1 [RCV000396024] |
Chr3:55468650..55468651 [GRCh38] Chr3:55502678..55502679 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-575G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000260654] |
Chr3:55487560 [GRCh38] Chr3:55521588 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*3157G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000272157] |
Chr3:55466935 [GRCh38] Chr3:55500963 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1953dup |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000312477] |
Chr3:55468138..55468139 [GRCh38] Chr3:55502166..55502167 [GRCh37] Chr3:3p14.3 |
conflicting interpretations of pathogenicity |
NM_003392.4(WNT5A):c.839G>A (p.Ser280Asn) |
single nucleotide variant |
not provided [RCV000381699] |
Chr3:55470396 [GRCh38] Chr3:55504424 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1791G>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000262083] |
Chr3:55468301 [GRCh38] Chr3:55502329 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1952_*1953dup |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000369418] |
Chr3:55468138..55468139 [GRCh38] Chr3:55502166..55502167 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_001256105.1(WNT5A):c.*1452_*1457AATATA[4] |
microsatellite |
Robinow syndrome, autosomal dominant 1 [RCV000379984] |
Chr3:55468622..55468623 [GRCh38] Chr3:55502650..55502651 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.*4179dup |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000384915] |
Chr3:55465912..55465913 [GRCh38] Chr3:55499940..55499941 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.14T>C (p.Ile5Thr) |
single nucleotide variant |
not provided [RCV000964936]|not specified [RCV000363742] |
Chr3:55480911 [GRCh38] Chr3:55514939 [GRCh37] Chr3:3p14.3 |
benign|likely benign |
NM_003392.4(WNT5A):c.*2811C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000279036] |
Chr3:55467281 [GRCh38] Chr3:55501309 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.819G>A (p.Ala273=) |
single nucleotide variant |
not provided [RCV000299406] |
Chr3:55470416 [GRCh38] Chr3:55504444 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*4356T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000268946] |
Chr3:55465736 [GRCh38] Chr3:55499764 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1446T>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000345172] |
Chr3:55468646 [GRCh38] Chr3:55502674 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*4142G>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000292883] |
Chr3:55465950 [GRCh38] Chr3:55499978 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-150C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000401988] |
Chr3:55487135 [GRCh38] Chr3:55521163 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-383G>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000304743] |
Chr3:55487368 [GRCh38] Chr3:55521396 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*2918A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000332932] |
Chr3:55467174 [GRCh38] Chr3:55501202 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*1440T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000349029] |
Chr3:55468652 [GRCh38] Chr3:55502680 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.685A>G (p.Thr229Ala) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000385244] |
Chr3:55470550 [GRCh38] Chr3:55504578 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*4127C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000350261] |
Chr3:55465965 [GRCh38] Chr3:55499993 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-503C>T |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000319832] |
Chr3:55487488 [GRCh38] Chr3:55521516 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_001256105.1(WNT5A):c.*3932_*3933CT[3] |
microsatellite |
Robinow syndrome, autosomal dominant 1 [RCV000296270] |
Chr3:55466153..55466154 [GRCh38] Chr3:55500181..55500182 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-150C>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000308217] |
Chr3:55487135 [GRCh38] Chr3:55521163 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*2731dup |
duplication |
Robinow syndrome, autosomal dominant 1 [RCV000336309] |
Chr3:55467360..55467361 [GRCh38] Chr3:55501388..55501389 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.141-14T>C |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000351528] |
Chr3:55479578 [GRCh38] Chr3:55513606 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_001256105.1(WNT5A):c.*1444_*1445TA[5] |
microsatellite |
Robinow syndrome, autosomal dominant 1 [RCV000287801] |
Chr3:55468640..55468641 [GRCh38] Chr3:55502668..55502669 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-574C>A |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000374099] |
Chr3:55487559 [GRCh38] Chr3:55521587 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*2728_*2730del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000374621] |
Chr3:55467362..55467364 [GRCh38] Chr3:55501390..55501392 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.41T>C (p.Leu14Ser) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000311901] |
Chr3:55480884 [GRCh38] Chr3:55514912 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.*2485A>G |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000342999] |
Chr3:55467607 [GRCh38] Chr3:55501635 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.-393_-391del |
deletion |
Robinow syndrome, autosomal dominant 1 [RCV000359450] |
Chr3:55487376..55487378 [GRCh38] Chr3:55521404..55521406 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.417C>T (p.Tyr139=) |
single nucleotide variant |
not provided [RCV000596243] |
Chr3:55474604 [GRCh38] Chr3:55508632 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.496C>T (p.Arg166Cys) |
single nucleotide variant |
not provided [RCV000733923] |
Chr3:55474525 [GRCh38] Chr3:55508553 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.779G>T (p.Arg260Leu) |
single nucleotide variant |
not provided [RCV000733943] |
Chr3:55470456 [GRCh38] Chr3:55504484 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.1052A>T (p.Gln351Leu) |
single nucleotide variant |
not provided [RCV000434129] |
Chr3:55470183 [GRCh38] Chr3:55504211 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.4(WNT5A):c.479C>G (p.Ser160Cys) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV000577882] |
Chr3:55474542 [GRCh38] Chr3:55508570 [GRCh37] Chr3:3p14.3 |
likely pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_003392.4(WNT5A):c.104C>T (p.Ser35Phe) |
single nucleotide variant |
not provided [RCV000595735] |
Chr3:55480821 [GRCh38] Chr3:55514849 [GRCh37] Chr3:3p14.3 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
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 |
NM_003392.4(WNT5A):c.822G>A (p.Ala274=) |
single nucleotide variant |
not provided [RCV000900517] |
Chr3:55470413 [GRCh38] Chr3:55504441 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.441G>A (p.Val147=) |
single nucleotide variant |
not provided [RCV000915733] |
Chr3:55474580 [GRCh38] Chr3:55508608 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.291G>A (p.Ala97=) |
single nucleotide variant |
not provided [RCV000906932] |
Chr3:55479414 [GRCh38] Chr3:55513442 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.1047C>T (p.Thr349=) |
single nucleotide variant |
not provided [RCV000918861] |
Chr3:55470188 [GRCh38] Chr3:55504216 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.951G>A (p.Ser317=) |
single nucleotide variant |
not provided [RCV000917231] |
Chr3:55470284 [GRCh38] Chr3:55504312 [GRCh37] Chr3:3p14.3 |
likely benign |
NM_003392.4(WNT5A):c.850T>C (p.Leu284=) |
single nucleotide variant |
not provided [RCV000956106] |
Chr3:55470385 [GRCh38] Chr3:55504413 [GRCh37] Chr3:3p14.3 |
benign |
NM_003392.4(WNT5A):c.502G>A (p.Ala168Thr) |
single nucleotide variant |
not provided [RCV000956107] |
Chr3:55474519 [GRCh38] Chr3:55508547 [GRCh37] Chr3:3p14.3 |
benign |
NC_000003.12:g.(?_55470092)_(55486985_?)dup |
duplication |
not provided [RCV001033474] |
Chr3:55504120..55521013 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.115G>C (p.Val39Leu) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV001254609] |
Chr3:55480810 [GRCh38] Chr3:55514838 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NC_000003.11:g.(?_55504120)_(55521013_?)dup |
duplication |
not provided [RCV001319586] |
Chr3:55504120..55521013 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.503C>T (p.Ala168Val) |
single nucleotide variant |
not provided [RCV001316247] |
Chr3:55474518 [GRCh38] Chr3:55508546 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.991G>T (p.Gly331Cys) |
single nucleotide variant |
not provided [RCV001325372] |
Chr3:55470244 [GRCh38] Chr3:55504272 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.641C>G (p.Ala214Gly) |
single nucleotide variant |
not provided [RCV001309038] |
Chr3:55474380 [GRCh38] Chr3:55508408 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.634G>A (p.Glu212Lys) |
single nucleotide variant |
not provided [RCV001350914] |
Chr3:55474387 [GRCh38] Chr3:55508415 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.547G>A (p.Gly183Ser) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV001270765] |
Chr3:55474474 [GRCh38] Chr3:55508502 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.463_486del (p.Arg155_Cys162del) |
deletion |
not provided [RCV001323406] |
Chr3:55474535..55474558 [GRCh38] Chr3:55508563..55508586 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) |
single nucleotide variant |
Robinow syndrome, autosomal dominant 1 [RCV001334139] |
Chr3:55474560 [GRCh38] Chr3:55508588 [GRCh37] Chr3:3p14.3 |
uncertain significance |
NM_003392.7(WNT5A):c.1123G>A (p.Asp375Asn) |
single nucleotide variant |
not provided [RCV001323469] |
Chr3:55470112 [GRCh38] Chr3:55504140 [GRCh37] Chr3:3p14.3 |
uncertain significance |