GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 |
copy number loss |
See cases [RCV000050980] |
Chr2:174898848..203941548 [GRCh38] Chr2:175763576..204806271 [GRCh37] Chr2:175471822..204514516 [NCBI36] Chr2:2q31.1-33.2 |
pathogenic |
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 |
copy number loss |
See cases [RCV000052558] |
Chr2:176304445..202039790 [GRCh38] Chr2:177169173..202904513 [GRCh37] Chr2:176877419..202612758 [NCBI36] Chr2:2q31.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 |
copy number loss |
See cases [RCV000052559] |
Chr2:177874070..198525492 [GRCh38] Chr2:178738797..199390216 [GRCh37] Chr2:178447043..199098461 [NCBI36] Chr2:2q31.2-33.1 |
pathogenic |
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 |
copy number loss |
See cases [RCV000135876] |
Chr2:186027472..201059372 [GRCh38] Chr2:186892199..201924095 [GRCh37] Chr2:186600444..201632340 [NCBI36] Chr2:2q32.1-33.1 |
pathogenic |
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 |
copy number loss |
See cases [RCV000136850] |
Chr2:171429233..189179568 [GRCh38] Chr2:172285743..190044294 [GRCh37] Chr2:171993989..189752539 [NCBI36] Chr2:2q31.1-32.2 |
pathogenic |
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 |
copy number loss |
See cases [RCV000136861] |
Chr2:174634502..189000964 [GRCh38] Chr2:175499230..189865690 [GRCh37] Chr2:175207476..189573935 [NCBI36] Chr2:2q31.1-32.2 |
pathogenic |
GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1 |
copy number loss |
See cases [RCV000137116] |
Chr2:180942902..187372388 [GRCh38] Chr2:181807629..188237115 [GRCh37] Chr2:181515874..187945360 [NCBI36] Chr2:2q31.3-32.1 |
pathogenic |
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 |
copy number loss |
See cases [RCV000138253] |
Chr2:181758701..192015392 [GRCh38] Chr2:182623428..192880118 [GRCh37] Chr2:182331673..192588363 [NCBI36] Chr2:2q31.3-32.3 |
pathogenic |
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 |
copy number gain |
See cases [RCV000139446] |
Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2 |
pathogenic |
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 |
copy number loss |
See cases [RCV000141735] |
Chr2:177827730..195125329 [GRCh38] Chr2:178692457..195990053 [GRCh37] Chr2:178400703..195698298 [NCBI36] Chr2:2q31.2-32.3 |
pathogenic |
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 |
copy number loss |
See cases [RCV000143484] |
Chr2:176086763..193201970 [GRCh38] Chr2:176951491..194066696 [GRCh37] Chr2:176659737..193774941 [NCBI36] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 |
copy number loss |
See cases [RCV000239432] |
Chr2:177315153..196375520 [GRCh37] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 |
copy number gain |
See cases [RCV000448271] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_177454.4(FAM171B):c.1391A>G (p.Asn464Ser) |
single nucleotide variant |
not specified [RCV004303377] |
Chr2:186761733 [GRCh38] Chr2:187626460 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.1(chr2:187370142-188535099)x4 |
copy number gain |
not provided [RCV000740779] |
Chr2:187370142..188535099 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2q32.1(chr2:187440683-187625351)x3 |
copy number gain |
not provided [RCV000740780] |
Chr2:187440683..187625351 [GRCh37] Chr2:2q32.1 |
benign |
NM_177454.4(FAM171B):c.147G>A (p.Gln49=) |
single nucleotide variant |
not provided [RCV000883680] |
Chr2:186694320 [GRCh38] Chr2:187559047 [GRCh37] Chr2:2q32.1 |
benign |
NM_177454.4(FAM171B):c.330G>A (p.Thr110=) |
single nucleotide variant |
not provided [RCV000885133] |
Chr2:186740319 [GRCh38] Chr2:187605046 [GRCh37] Chr2:2q32.1 |
benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787402] |
Chr2:186356601..188906835 [GRCh37] Chr2:2q32.1 |
pathogenic |
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 |
copy number loss |
not provided [RCV000848216] |
Chr2:167329586..192756373 [GRCh37] Chr2:2q24.3-32.3 |
pathogenic |
GRCh37/hg19 2q32.1(chr2:186861444-188658263)x1 |
copy number loss |
not provided [RCV000845864] |
Chr2:186861444..188658263 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2q32.1(chr2:187445266-187627894)x3 |
copy number gain |
not provided [RCV000849474] |
Chr2:187445266..187627894 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34 |
pathogenic |
GRCh37/hg19 2q32.1(chr2:186234826-188972311)x3 |
copy number gain |
not provided [RCV000847709] |
Chr2:186234826..188972311 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.407C>T (p.Thr136Ile) |
single nucleotide variant |
not specified [RCV004291356] |
Chr2:186740396 [GRCh38] Chr2:187605123 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.605T>C (p.Leu202Ser) |
single nucleotide variant |
not specified [RCV004305029] |
Chr2:186747131 [GRCh38] Chr2:187611858 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.748C>T (p.Pro250Ser) |
single nucleotide variant |
not provided [RCV000974935] |
Chr2:186751157 [GRCh38] Chr2:187615884 [GRCh37] Chr2:2q32.1 |
benign |
NM_177454.4(FAM171B):c.1563G>A (p.Ala521=) |
single nucleotide variant |
not provided [RCV000968549] |
Chr2:186761905 [GRCh38] Chr2:187626632 [GRCh37] Chr2:2q32.1 |
benign |
NM_177454.4(FAM171B):c.284G>A (p.Arg95His) |
single nucleotide variant |
not provided [RCV000957829] |
Chr2:186740273 [GRCh38] Chr2:187605000 [GRCh37] Chr2:2q32.1 |
benign |
NM_177454.4(FAM171B):c.2472C>T (p.Pro824=) |
single nucleotide variant |
not provided [RCV000956013] |
Chr2:186762814 [GRCh38] Chr2:187627541 [GRCh37] Chr2:2q32.1 |
benign |
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 |
copy number loss |
not provided [RCV001005359] |
Chr2:174690039..195521582 [GRCh37] Chr2:2q31.1-32.3 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) |
copy number loss |
Chromosome 2q32-q33 deletion syndrome [RCV002280608] |
Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34 |
pathogenic |
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) |
copy number gain |
not specified [RCV002053265] |
Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q32.1(chr2:187466416-188487473)x3 |
copy number gain |
not provided [RCV002475015] |
Chr2:187466416..188487473 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 |
copy number loss |
not provided [RCV002472632] |
Chr2:187152754..199960525 [GRCh37] Chr2:2q32.1-33.1 |
pathogenic |
NM_177454.4(FAM171B):c.1420C>A (p.Gln474Lys) |
single nucleotide variant |
not specified [RCV004222773] |
Chr2:186761762 [GRCh38] Chr2:187626489 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1480C>A (p.Pro494Thr) |
single nucleotide variant |
not specified [RCV004231049] |
Chr2:186761822 [GRCh38] Chr2:187626549 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1868A>T (p.Tyr623Phe) |
single nucleotide variant |
not specified [RCV004118708] |
Chr2:186762210 [GRCh38] Chr2:187626937 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.181G>A (p.Glu61Lys) |
single nucleotide variant |
not specified [RCV004132234] |
Chr2:186694354 [GRCh38] Chr2:187559081 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2387C>G (p.Thr796Ser) |
single nucleotide variant |
not specified [RCV004204640] |
Chr2:186762729 [GRCh38] Chr2:187627456 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.937A>G (p.Asn313Asp) |
single nucleotide variant |
not specified [RCV004160256] |
Chr2:186753974 [GRCh38] Chr2:187618701 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.886A>G (p.Met296Val) |
single nucleotide variant |
not specified [RCV004235170] |
Chr2:186751295 [GRCh38] Chr2:187616022 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1736G>A (p.Arg579Gln) |
single nucleotide variant |
not specified [RCV004132588] |
Chr2:186762078 [GRCh38] Chr2:187626805 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.794T>C (p.Leu265Pro) |
single nucleotide variant |
not specified [RCV004281193] |
Chr2:186751203 [GRCh38] Chr2:187615930 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2459G>A (p.Arg820His) |
single nucleotide variant |
not specified [RCV004330820] |
Chr2:186762801 [GRCh38] Chr2:187627528 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1463A>G (p.Asn488Ser) |
single nucleotide variant |
not specified [RCV004248404] |
Chr2:186761805 [GRCh38] Chr2:187626532 [GRCh37] Chr2:2q32.1 |
likely benign |
NM_177454.4(FAM171B):c.871G>T (p.Ala291Ser) |
single nucleotide variant |
not specified [RCV004259033] |
Chr2:186751280 [GRCh38] Chr2:187616007 [GRCh37] Chr2:2q32.1 |
uncertain significance |
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 |
copy number gain |
See cases [RCV003329558] |
Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1 |
pathogenic |
NM_177454.4(FAM171B):c.2336C>T (p.Ser779Leu) |
single nucleotide variant |
not specified [RCV004334911] |
Chr2:186762678 [GRCh38] Chr2:187627405 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1348A>G (p.Arg450Gly) |
single nucleotide variant |
not specified [RCV004351178] |
Chr2:186761690 [GRCh38] Chr2:187626417 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1705G>A (p.Val569Ile) |
single nucleotide variant |
not specified [RCV004342065] |
Chr2:186762047 [GRCh38] Chr2:187626774 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.796A>C (p.Lys266Gln) |
single nucleotide variant |
not specified [RCV004356323] |
Chr2:186751205 [GRCh38] Chr2:187615932 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.52G>T (p.Val18Leu) |
single nucleotide variant |
not specified [RCV004338260] |
Chr2:186694225 [GRCh38] Chr2:187558952 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1657C>A (p.Gln553Lys) |
single nucleotide variant |
not specified [RCV004380979] |
Chr2:186761999 [GRCh38] Chr2:187626726 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.827C>T (p.Pro276Leu) |
single nucleotide variant |
not specified [RCV004380985] |
Chr2:186751236 [GRCh38] Chr2:187615963 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.199A>G (p.Thr67Ala) |
single nucleotide variant |
not specified [RCV004380980] |
Chr2:186694372 [GRCh38] Chr2:187559099 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.239T>C (p.Val80Ala) |
single nucleotide variant |
not specified [RCV004380981] |
Chr2:186740228 [GRCh38] Chr2:187604955 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.811A>G (p.Ile271Val) |
single nucleotide variant |
not specified [RCV004380984] |
Chr2:186751220 [GRCh38] Chr2:187615947 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2408C>A (p.Pro803Gln) |
single nucleotide variant |
not specified [RCV004380982] |
Chr2:186762750 [GRCh38] Chr2:187627477 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1004G>A (p.Gly335Glu) |
single nucleotide variant |
not specified [RCV004380978] |
Chr2:186754041 [GRCh38] Chr2:187618768 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.863G>A (p.Arg288His) |
single nucleotide variant |
not specified [RCV004625375] |
Chr2:186751272 [GRCh38] Chr2:187615999 [GRCh37] Chr2:2q32.1 |
likely benign |
NM_177454.4(FAM171B):c.1145G>A (p.Cys382Tyr) |
single nucleotide variant |
not specified [RCV004625376] |
Chr2:186761487 [GRCh38] Chr2:187626214 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.640G>A (p.Val214Ile) |
single nucleotide variant |
not specified [RCV004625377] |
Chr2:186747166 [GRCh38] Chr2:187611893 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2072A>C (p.Asp691Ala) |
single nucleotide variant |
not specified [RCV004625378] |
Chr2:186762414 [GRCh38] Chr2:187627141 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.733A>G (p.Asn245Asp) |
single nucleotide variant |
not specified [RCV004625379] |
Chr2:186751142 [GRCh38] Chr2:187615869 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1769C>T (p.Pro590Leu) |
single nucleotide variant |
not specified [RCV004625380] |
Chr2:186762111 [GRCh38] Chr2:187626838 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.22G>T (p.Val8Phe) |
single nucleotide variant |
not specified [RCV004625381] |
Chr2:186694195 [GRCh38] Chr2:187558922 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2254G>A (p.Val752Ile) |
single nucleotide variant |
not specified [RCV004920997] |
Chr2:186762596 [GRCh38] Chr2:187627323 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1151C>G (p.Thr384Ser) |
single nucleotide variant |
not specified [RCV004920998] |
Chr2:186761493 [GRCh38] Chr2:187626220 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2302A>G (p.Ser768Gly) |
single nucleotide variant |
not specified [RCV004921000] |
Chr2:186762644 [GRCh38] Chr2:187627371 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.695A>G (p.His232Arg) |
single nucleotide variant |
not specified [RCV004921001] |
Chr2:186747221 [GRCh38] Chr2:187611948 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.985A>G (p.Ile329Val) |
single nucleotide variant |
not specified [RCV004921002] |
Chr2:186754022 [GRCh38] Chr2:187618749 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1567G>A (p.Gly523Arg) |
single nucleotide variant |
not specified [RCV004921003] |
Chr2:186761909 [GRCh38] Chr2:187626636 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.1718T>C (p.Leu573Ser) |
single nucleotide variant |
not specified [RCV004921004] |
Chr2:186762060 [GRCh38] Chr2:187626787 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2147C>T (p.Ser716Leu) |
single nucleotide variant |
not specified [RCV004921005] |
Chr2:186762489 [GRCh38] Chr2:187627216 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.2192A>G (p.His731Arg) |
single nucleotide variant |
not specified [RCV004921006] |
Chr2:186762534 [GRCh38] Chr2:187627261 [GRCh37] Chr2:2q32.1 |
uncertain significance |
NM_177454.4(FAM171B):c.100C>T (p.Leu34Phe) |
single nucleotide variant |
not specified [RCV004920996] |
Chr2:186694273 [GRCh38] Chr2:187559000 [GRCh37] Chr2:2q32.1 |
uncertain significance |