| NM_001211.6(BUB1B):c.2851-1G>C |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003507310]|not provided [RCV000722570] |
Chr15:40218455 [GRCh38]
Chr15:40510656 [GRCh37]
Chr15:15q15.1 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 15q14-15.1(chr15:36531993-40787538)x3 |
copy number gain |
See cases [RCV000052341] |
Chr15:36531993..40787538 [GRCh38]
Chr15:36824194..41079736 [GRCh37]
Chr15:34611486..38867028 [NCBI36]
Chr15:15q14-15.1 |
pathogenic |
| NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) |
single nucleotide variant |
Inborn genetic diseases [RCV004018580]|Mosaic variegated aneuploidy syndrome 1 [RCV000007156]|Mosaic variegated aneuploidy syndrome 1 [RCV005007832]|Premature chromatid separation trait [RCV000007157]|not provided [RCV001552489] |
Chr15:40217580 [GRCh38]
Chr15:40509781 [GRCh37]
Chr15:15q15.1 |
pathogenic|affects|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV000007162]|Mosaic variegated aneuploidy syndrome 1 [RCV002482838]|Premature chromatid separation trait [RCV000007163]|not specified [RCV002509147] |
Chr15:40220641 [GRCh38]
Chr15:40512842 [GRCh37]
Chr15:15q15.1 |
pathogenic|affects|uncertain significance |
| NM_001211.6(BUB1B):c.2856C>T (p.Asp952=) |
single nucleotide variant |
Colorectal cancer [RCV003316161]|Mosaic variegated aneuploidy syndrome 1 [RCV000210533]|not provided [RCV001640328]|not specified [RCV000246993] |
Chr15:40218461 [GRCh38]
Chr15:40510662 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2729T>A (p.Val910Glu) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV000230606] |
Chr15:40217546 [GRCh38]
Chr15:40509747 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3011A>G (p.Asn1004Ser) |
single nucleotide variant |
Colorectal cancer [RCV003315740]|Inborn genetic diseases [RCV002515824]|Mosaic variegated aneuploidy syndrome 1 [RCV000457975]|not provided [RCV001560420]|not specified [RCV000120423] |
Chr15:40220617 [GRCh38]
Chr15:40512818 [GRCh37]
Chr15:15q15.1 |
benign|likely benign|not provided |
| NM_001211.6(BUB1B):c.2784C>T (p.Ser928=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438375]|Mosaic variegated aneuploidy syndrome 1 [RCV000555231] |
Chr15:40217601 [GRCh38]
Chr15:40509802 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3099A>G (p.Lys1033=) |
single nucleotide variant |
Colorectal cancer [RCV003316389]|Mosaic variegated aneuploidy syndrome 1 [RCV000471759]|not provided [RCV001689822]|not specified [RCV000251949] |
Chr15:40220705 [GRCh38]
Chr15:40512906 [GRCh37]
Chr15:15q15.1 |
benign |
| GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 |
copy number loss |
See cases [RCV000051617] |
Chr15:32635803..40233825 [GRCh38]
Chr15:32928004..40526026 [GRCh37]
Chr15:30715296..38313318 [NCBI36]
Chr15:15q13.3-15.1 |
pathogenic |
| GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3 |
copy number gain |
See cases [RCV000052105] |
Chr15:39710935..40294591 [GRCh38]
Chr15:40003136..40586792 [GRCh37]
Chr15:37790428..38374084 [NCBI36]
Chr15:15q14-15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2785G>A (p.Gly929Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002436374]|Microcephaly [RCV001252831]|Mosaic variegated aneuploidy syndrome 1 [RCV000463687]|not provided [RCV000733229] |
Chr15:40217602 [GRCh38]
Chr15:40509803 [GRCh37]
Chr15:15q15.1 |
likely benign|uncertain significance |
| NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) |
single nucleotide variant |
BUB1B-related disorder [RCV004754434]|Mosaic variegated aneuploidy syndrome 1 [RCV001294084]|not provided [RCV001357136] |
Chr15:40220700 [GRCh38]
Chr15:40512901 [GRCh37]
Chr15:15q15.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001211.6(BUB1B):c.2866A>G (p.Ile956Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002436375]|Mosaic variegated aneuploidy syndrome 1 [RCV002230309] |
Chr15:40218471 [GRCh38]
Chr15:40510672 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2801A>G (p.Gln934Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004965463]|Mosaic variegated aneuploidy syndrome 1 [RCV000465135] |
Chr15:40217618 [GRCh38]
Chr15:40509819 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004601171]|Mosaic variegated aneuploidy syndrome 1 [RCV000466079]|Mosaic variegated aneuploidy syndrome 1 [RCV005010331] |
Chr15:40220585 [GRCh38]
Chr15:40512786 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.625C>G (p.Pro209Ala) |
single nucleotide variant |
not specified [RCV004298070] |
Chr15:40266262 [GRCh38]
Chr15:40558463 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.566C>T (p.Ser189Leu) |
single nucleotide variant |
not specified [RCV004318023] |
Chr15:40266203 [GRCh38]
Chr15:40558404 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3144C>G (p.Leu1048=) |
single nucleotide variant |
Inborn genetic diseases [RCV003288471] |
Chr15:40220750 [GRCh38]
Chr15:40512951 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2912T>C (p.Val971Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003301878] |
Chr15:40218517 [GRCh38]
Chr15:40510718 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3056T>C (p.Met1019Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003301903] |
Chr15:40220662 [GRCh38]
Chr15:40512863 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2933G>A (p.Trp978Ter) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV000641233] |
Chr15:40218538 [GRCh38]
Chr15:40510739 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2996G>A (p.Arg999Gln) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV000533586] |
Chr15:40220602 [GRCh38]
Chr15:40512803 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.520G>A (p.Ala174Thr) |
single nucleotide variant |
not specified [RCV004313719] |
Chr15:40266157 [GRCh38]
Chr15:40558358 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1855C>A (p.Pro619Thr) |
single nucleotide variant |
Keratoconus [RCV000678673] |
Chr15:40274253 [GRCh38]
Chr15:40566454 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2752C>T (p.Leu918Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004965667]|Mosaic variegated aneuploidy syndrome 1 [RCV002233167] |
Chr15:40217569 [GRCh38]
Chr15:40509770 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3067T>G (p.Phe1023Val) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002233681] |
Chr15:40220673 [GRCh38]
Chr15:40512874 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NC_000015.9:g.(?_40453416)_(40512966_?)dup |
duplication |
Mosaic variegated aneuploidy syndrome [RCV000708012] |
Chr15:40161215..40220765 [GRCh38]
Chr15:40453416..40512966 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2762A>T (p.Gln921Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002440543]|Mosaic variegated aneuploidy syndrome 1 [RCV002233433] |
Chr15:40217579 [GRCh38]
Chr15:40509780 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3055A>G (p.Met1019Val) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002233407] |
Chr15:40220661 [GRCh38]
Chr15:40512862 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.*111A>G |
single nucleotide variant |
not provided [RCV001540281] |
Chr15:40220870 [GRCh38]
Chr15:40513071 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2850+188T>C |
single nucleotide variant |
not provided [RCV001709471] |
Chr15:40217855 [GRCh38]
Chr15:40510056 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2851-341A>T |
single nucleotide variant |
not provided [RCV001550571] |
Chr15:40218115 [GRCh38]
Chr15:40510316 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2889A>G (p.Leu963=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV000876648] |
Chr15:40218494 [GRCh38]
Chr15:40510695 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3147T>C (p.Phe1049=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319987]|Mosaic variegated aneuploidy syndrome 1 [RCV000867940] |
Chr15:40220753 [GRCh38]
Chr15:40512954 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.622C>A (p.Pro208Thr) |
single nucleotide variant |
not provided [RCV000948425] |
Chr15:40266259 [GRCh38]
Chr15:40558460 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001395430.1(PAK6):c.572G>A (p.Arg191His) |
single nucleotide variant |
not provided [RCV000964146] |
Chr15:40266209 [GRCh38]
Chr15:40558410 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2958-10A>G |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001409449]|not provided [RCV004705840] |
Chr15:40220554 [GRCh38]
Chr15:40512755 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.569A>G (p.Gln190Arg) |
single nucleotide variant |
not provided [RCV000971621] |
Chr15:40266206 [GRCh38]
Chr15:40558407 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001395430.1(PAK6):c.593G>A (p.Cys198Tyr) |
single nucleotide variant |
not provided [RCV000971622] |
Chr15:40266230 [GRCh38]
Chr15:40558431 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001395430.1(PAK6):c.1606C>T (p.Leu536Phe) |
single nucleotide variant |
not specified [RCV004292591] |
Chr15:40273461 [GRCh38]
Chr15:40565662 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2805C>G (p.Ile935Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003166291]|Mosaic variegated aneuploidy syndrome 1 [RCV002234785] |
Chr15:40217622 [GRCh38]
Chr15:40509823 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3124A>G (p.Thr1042Ala) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002234871] |
Chr15:40220730 [GRCh38]
Chr15:40512931 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002433989]|Mosaic variegated aneuploidy syndrome 1 [RCV002235079] |
Chr15:40218506 [GRCh38]
Chr15:40510707 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2792G>A (p.Arg931Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002433979]|Mosaic variegated aneuploidy syndrome 1 [RCV002235057]|Mosaic variegated aneuploidy syndrome 1 [RCV005012358]|not provided [RCV003238237] |
Chr15:40217609 [GRCh38]
Chr15:40509810 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.5(BUB1B):c.2971G>T (p.Glu991Ter) |
single nucleotide variant |
Neoplasm of ovary [RCV000785426] |
Chr15:40220577 [GRCh38]
Chr15:40512778 [GRCh37]
Chr15:15q15.1 |
pathogenic |
| NM_001211.6(BUB1B):c.3074C>A (p.Thr1025Asn) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002235786] |
Chr15:40220680 [GRCh38]
Chr15:40512881 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2957+1G>A |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002235572] |
Chr15:40218563 [GRCh38]
Chr15:40510764 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3105A>G (p.Leu1035=) |
single nucleotide variant |
Inborn genetic diseases [RCV002320005]|Mosaic variegated aneuploidy syndrome 1 [RCV000869735] |
Chr15:40220711 [GRCh38]
Chr15:40512912 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2783G>C (p.Ser928Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002436924]|Mosaic variegated aneuploidy syndrome 1 [RCV001236513] |
Chr15:40217600 [GRCh38]
Chr15:40509801 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1868A>G (p.Asn623Ser) |
single nucleotide variant |
not specified [RCV004300789] |
Chr15:40274266 [GRCh38]
Chr15:40566467 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2799A>G (p.Val933=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434283]|Mosaic variegated aneuploidy syndrome 1 [RCV001480527] |
Chr15:40217616 [GRCh38]
Chr15:40509817 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002241293]|Mosaic variegated aneuploidy syndrome 1 [RCV002504282] |
Chr15:40220628 [GRCh38]
Chr15:40512829 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2850+108A>G |
single nucleotide variant |
not provided [RCV001547387] |
Chr15:40217775 [GRCh38]
Chr15:40509976 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2958-134A>G |
single nucleotide variant |
not provided [RCV001530724] |
Chr15:40220430 [GRCh38]
Chr15:40512631 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2869del (p.Ala957fs) |
deletion |
Mosaic variegated aneuploidy syndrome 1 [RCV004789313]|not provided [RCV001008480] |
Chr15:40218474 [GRCh38]
Chr15:40510675 [GRCh37]
Chr15:15q15.1 |
likely pathogenic |
| NM_001211.6(BUB1B):c.2851-131A>G |
single nucleotide variant |
not provided [RCV001692614] |
Chr15:40218325 [GRCh38]
Chr15:40510526 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.3082C>G (p.Gln1028Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002319676]|Mosaic variegated aneuploidy syndrome 1 [RCV002241271] |
Chr15:40220688 [GRCh38]
Chr15:40512889 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2834G>A (p.Cys945Tyr) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002239325] |
Chr15:40217651 [GRCh38]
Chr15:40509852 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2693A>G (p.Tyr898Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002434444]|Mosaic variegated aneuploidy syndrome 1 [RCV002239288] |
Chr15:40217510 [GRCh38]
Chr15:40509711 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2792G>C (p.Arg931Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004033693]|Mosaic variegated aneuploidy syndrome 1 [RCV002240975] |
Chr15:40217609 [GRCh38]
Chr15:40509810 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2995C>T (p.Arg999Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003160417]|Mosaic variegated aneuploidy syndrome 1 [RCV002240234] |
Chr15:40220601 [GRCh38]
Chr15:40512802 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2745T>A (p.Ser915Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002438749]|Mosaic variegated aneuploidy syndrome 1 [RCV002242165] |
Chr15:40217562 [GRCh38]
Chr15:40509763 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3076A>G (p.Thr1026Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002319702]|Mosaic variegated aneuploidy syndrome 1 [RCV002242206] |
Chr15:40220682 [GRCh38]
Chr15:40512883 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2777C>T (p.Thr926Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004036037]|Mosaic variegated aneuploidy syndrome 1 [RCV002241696] |
Chr15:40217594 [GRCh38]
Chr15:40509795 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001360390]|Mosaic variegated aneuploidy syndrome 1 [RCV005005878] |
Chr15:40217627 [GRCh38]
Chr15:40509828 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2904C>A (p.His968Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002437043]|Mosaic variegated aneuploidy syndrome 1 [RCV002241860] |
Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2791C>T (p.Arg931Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002538498]|Mosaic variegated aneuploidy syndrome 1 [RCV002241718]|not provided [RCV002221621] |
Chr15:40217608 [GRCh38]
Chr15:40509809 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3084A>G (p.Gln1028=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319705]|Mosaic variegated aneuploidy syndrome 1 [RCV001371344] |
Chr15:40220690 [GRCh38]
Chr15:40512891 [GRCh37]
Chr15:15q15.1 |
likely benign|uncertain significance |
| NM_001211.6(BUB1B):c.3020C>G (p.Ala1007Gly) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002242185] |
Chr15:40220626 [GRCh38]
Chr15:40512827 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2897A>G (p.Lys966Arg) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002242141] |
Chr15:40218502 [GRCh38]
Chr15:40510703 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3113T>C (p.Val1038Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002322341]|Mosaic variegated aneuploidy syndrome 1 [RCV001366474] |
Chr15:40220719 [GRCh38]
Chr15:40512920 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2962A>G (p.Lys988Glu) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001368899] |
Chr15:40220568 [GRCh38]
Chr15:40512769 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3133G>C (p.Gly1045Arg) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001369931] |
Chr15:40220739 [GRCh38]
Chr15:40512940 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2760G>C (p.Val920=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438903]|Mosaic variegated aneuploidy syndrome 1 [RCV001395272] |
Chr15:40217577 [GRCh38]
Chr15:40509778 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2857C>T (p.Leu953=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001464833] |
Chr15:40218462 [GRCh38]
Chr15:40510663 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2850+9A>G |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001468796] |
Chr15:40217676 [GRCh38]
Chr15:40509877 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2849A>G (p.Gln950Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002439015]|Mosaic variegated aneuploidy syndrome 1 [RCV001434880] |
Chr15:40217666 [GRCh38]
Chr15:40509867 [GRCh37]
Chr15:15q15.1 |
likely benign|uncertain significance |
| NM_001211.6(BUB1B):c.2994G>A (p.Val998=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439028]|Mosaic variegated aneuploidy syndrome 1 [RCV001438914] |
Chr15:40220600 [GRCh38]
Chr15:40512801 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2851-317A>G |
single nucleotide variant |
not provided [RCV001696592] |
Chr15:40218139 [GRCh38]
Chr15:40510340 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2997G>A (p.Arg999=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001453298] |
Chr15:40220603 [GRCh38]
Chr15:40512804 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2752C>G (p.Leu918Val) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001868723]|not provided [RCV001753231] |
Chr15:40217569 [GRCh38]
Chr15:40509770 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2854G>C (p.Asp952His) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001929810] |
Chr15:40218459 [GRCh38]
Chr15:40510660 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3074C>T (p.Thr1025Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002319733]|Mosaic variegated aneuploidy syndrome 1 [RCV001895666] |
Chr15:40220680 [GRCh38]
Chr15:40512881 [GRCh37]
Chr15:15q15.1 |
likely benign|uncertain significance |
| NM_001211.6(BUB1B):c.3028T>C (p.Ser1010Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002441077]|Mosaic variegated aneuploidy syndrome 1 [RCV001946423] |
Chr15:40220634 [GRCh38]
Chr15:40512835 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2933G>T (p.Trp978Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004970579]|Mosaic variegated aneuploidy syndrome 1 [RCV001946380] |
Chr15:40218538 [GRCh38]
Chr15:40510739 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3049G>A (p.Ala1017Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003170084]|Mosaic variegated aneuploidy syndrome 1 [RCV001982361] |
Chr15:40220655 [GRCh38]
Chr15:40512856 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2807T>C (p.Leu936Pro) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001876711] |
Chr15:40217624 [GRCh38]
Chr15:40509825 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3146T>C (p.Phe1049Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002324252]|Mosaic variegated aneuploidy syndrome 1 [RCV001902300] |
Chr15:40220752 [GRCh38]
Chr15:40512953 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3105A>C (p.Leu1035Phe) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001870171] |
Chr15:40220711 [GRCh38]
Chr15:40512912 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2679A>G (p.Arg893=) |
single nucleotide variant |
Inborn genetic diseases [RCV004039909]|Mosaic variegated aneuploidy syndrome 1 [RCV001937622] |
Chr15:40217496 [GRCh38]
Chr15:40509697 [GRCh37]
Chr15:15q15.1 |
likely benign|uncertain significance |
| NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV001932431] |
Chr15:40218481 [GRCh38]
Chr15:40510682 [GRCh37]
Chr15:15q15.1 |
pathogenic |
| NM_001211.6(BUB1B):c.2862T>C (p.Phe954=) |
single nucleotide variant |
Inborn genetic diseases [RCV004047184]|Mosaic variegated aneuploidy syndrome 1 [RCV002208511] |
Chr15:40218467 [GRCh38]
Chr15:40510668 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2851-17G>A |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002146684] |
Chr15:40218439 [GRCh38]
Chr15:40510640 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2957+17G>A |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002145519] |
Chr15:40218579 [GRCh38]
Chr15:40510780 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2851-16C>T |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002109322] |
Chr15:40218440 [GRCh38]
Chr15:40510641 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2958-13dup |
duplication |
Mosaic variegated aneuploidy syndrome 1 [RCV002205184] |
Chr15:40220547..40220548 [GRCh38]
Chr15:40512748..40512749 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001211.6(BUB1B):c.2817A>G (p.Gln939=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434574]|Mosaic variegated aneuploidy syndrome 1 [RCV002148878] |
Chr15:40217634 [GRCh38]
Chr15:40509835 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3024A>G (p.Thr1008=) |
single nucleotide variant |
Inborn genetic diseases [RCV002434496]|Mosaic variegated aneuploidy syndrome 1 [RCV002115334] |
Chr15:40220630 [GRCh38]
Chr15:40512831 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2686G>A (p.Asp896Asn) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005095857]|See cases [RCV002253096] |
Chr15:40217503 [GRCh38]
Chr15:40509704 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2957+8T>C |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002098623] |
Chr15:40218570 [GRCh38]
Chr15:40510771 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2957+16T>C |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002122435] |
Chr15:40218578 [GRCh38]
Chr15:40510779 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2838T>G (p.Ser946=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435210] |
Chr15:40217655 [GRCh38]
Chr15:40509856 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2991T>C (p.Phe997=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435503] |
Chr15:40220597 [GRCh38]
Chr15:40512798 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2996G>T (p.Arg999Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002435550] |
Chr15:40220602 [GRCh38]
Chr15:40512803 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2999T>G (p.Ile1000Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002435572] |
Chr15:40220605 [GRCh38]
Chr15:40512806 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3013G>C (p.Asp1005His) |
single nucleotide variant |
Inborn genetic diseases [RCV002435799]|Mosaic variegated aneuploidy syndrome 1 [RCV003111556] |
Chr15:40220619 [GRCh38]
Chr15:40512820 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2685C>T (p.His895=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453151]|Mosaic variegated aneuploidy syndrome 1 [RCV005098249] |
Chr15:40217502 [GRCh38]
Chr15:40509703 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3034C>T (p.Leu1012Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002438140] |
Chr15:40220640 [GRCh38]
Chr15:40512841 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3021C>T (p.Ala1007=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435892] |
Chr15:40220627 [GRCh38]
Chr15:40512828 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2816A>C (p.Gln939Pro) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002297419] |
Chr15:40217633 [GRCh38]
Chr15:40509834 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2901A>G (p.Glu967=) |
single nucleotide variant |
Inborn genetic diseases [RCV002438081] |
Chr15:40218506 [GRCh38]
Chr15:40510707 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3026T>C (p.Val1009Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002435938] |
Chr15:40220632 [GRCh38]
Chr15:40512833 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3010A>C (p.Asn1004His) |
single nucleotide variant |
Inborn genetic diseases [RCV002435779] |
Chr15:40220616 [GRCh38]
Chr15:40512817 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3029C>T (p.Ser1010Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002435962] |
Chr15:40220635 [GRCh38]
Chr15:40512836 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2694T>C (p.Tyr898=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437365] |
Chr15:40217511 [GRCh38]
Chr15:40509712 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2864G>A (p.Gly955Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002437613] |
Chr15:40218469 [GRCh38]
Chr15:40510670 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2708A>G (p.Asn903Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002437425]|Mosaic variegated aneuploidy syndrome 1 [RCV003102129] |
Chr15:40217525 [GRCh38]
Chr15:40509726 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2829T>A (p.Ala943=) |
single nucleotide variant |
Inborn genetic diseases [RCV002435071] |
Chr15:40217646 [GRCh38]
Chr15:40509847 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2886A>G (p.Leu962=) |
single nucleotide variant |
Inborn genetic diseases [RCV002437845] |
Chr15:40218491 [GRCh38]
Chr15:40510692 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3015T>G (p.Asp1005Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002435822]|Mosaic variegated aneuploidy syndrome 1 [RCV003444273] |
Chr15:40220621 [GRCh38]
Chr15:40512822 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3019G>A (p.Ala1007Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002435855] |
Chr15:40220625 [GRCh38]
Chr15:40512826 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2827G>A (p.Ala943Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002435045]|Mosaic variegated aneuploidy syndrome 1 [RCV003507461] |
Chr15:40217644 [GRCh38]
Chr15:40509845 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2735T>C (p.Phe912Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002437518] |
Chr15:40217552 [GRCh38]
Chr15:40509753 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2846A>G (p.Tyr949Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002435302] |
Chr15:40217663 [GRCh38]
Chr15:40509864 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2851G>A (p.Val951Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002435376] |
Chr15:40218456 [GRCh38]
Chr15:40510657 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2711A>G (p.Asn904Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003288291] |
Chr15:40217528 [GRCh38]
Chr15:40509729 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2747T>C (p.Val916Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002439309] |
Chr15:40217564 [GRCh38]
Chr15:40509765 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3091C>T (p.Leu1031=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325809] |
Chr15:40220697 [GRCh38]
Chr15:40512898 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2811A>C (p.Glu937Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002441707] |
Chr15:40217628 [GRCh38]
Chr15:40509829 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2954C>T (p.Ser985Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002441907] |
Chr15:40218559 [GRCh38]
Chr15:40510760 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2779C>G (p.Leu927Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002439692] |
Chr15:40217596 [GRCh38]
Chr15:40509797 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2971G>A (p.Glu991Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002442107] |
Chr15:40220577 [GRCh38]
Chr15:40512778 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3038G>A (p.Gly1013Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002438171] |
Chr15:40220644 [GRCh38]
Chr15:40512845 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3038G>C (p.Gly1013Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002438173] |
Chr15:40220644 [GRCh38]
Chr15:40512845 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2988C>G (p.Phe996Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002442281] |
Chr15:40220594 [GRCh38]
Chr15:40512795 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3139T>C (p.Leu1047=) |
single nucleotide variant |
Inborn genetic diseases [RCV002320686] |
Chr15:40220745 [GRCh38]
Chr15:40512946 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3096C>G (p.Asn1032Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002325853] |
Chr15:40220702 [GRCh38]
Chr15:40512903 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3069T>C (p.Phe1023=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444301] |
Chr15:40220675 [GRCh38]
Chr15:40512876 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3070G>C (p.Asp1024His) |
single nucleotide variant |
Inborn genetic diseases [RCV002444345] |
Chr15:40220676 [GRCh38]
Chr15:40512877 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2764C>T (p.Leu922=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439533]|Mosaic variegated aneuploidy syndrome 1 [RCV005098276] |
Chr15:40217581 [GRCh38]
Chr15:40509782 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2782A>G (p.Ser928Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002441319] |
Chr15:40217599 [GRCh38]
Chr15:40509800 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2804T>C (p.Ile935Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002441625]|Mosaic variegated aneuploidy syndrome 1 [RCV003618039] |
Chr15:40217621 [GRCh38]
Chr15:40509822 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2806C>T (p.Leu936=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441644] |
Chr15:40217623 [GRCh38]
Chr15:40509824 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3136G>C (p.Ala1046Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002320648]|Mosaic variegated aneuploidy syndrome 1 [RCV005096164] |
Chr15:40220742 [GRCh38]
Chr15:40512943 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2820G>T (p.Lys940Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002441821]|Mosaic variegated aneuploidy syndrome 1 [RCV003102756] |
Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3142C>T (p.Leu1048Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002320738] |
Chr15:40220748 [GRCh38]
Chr15:40512949 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2956G>C (p.Glu986Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002441923] |
Chr15:40218561 [GRCh38]
Chr15:40510762 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2781C>T (p.Leu927=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441309] |
Chr15:40217598 [GRCh38]
Chr15:40509799 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2794A>G (p.Thr932Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002441454] |
Chr15:40217611 [GRCh38]
Chr15:40509812 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2797G>A (p.Val933Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002441476] |
Chr15:40217614 [GRCh38]
Chr15:40509815 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3078A>T (p.Thr1026=) |
single nucleotide variant |
Inborn genetic diseases [RCV002319842] |
Chr15:40220684 [GRCh38]
Chr15:40512885 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2745T>C (p.Ser915=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439294] |
Chr15:40217562 [GRCh38]
Chr15:40509763 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2746G>A (p.Val916Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002439300] |
Chr15:40217563 [GRCh38]
Chr15:40509764 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2809G>A (p.Glu937Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002441672] |
Chr15:40217626 [GRCh38]
Chr15:40509827 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2763G>A (p.Gln921=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439527] |
Chr15:40217580 [GRCh38]
Chr15:40509781 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2768A>G (p.Asp923Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002439567] |
Chr15:40217585 [GRCh38]
Chr15:40509786 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2985A>C (p.Lys995Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002442241] |
Chr15:40220591 [GRCh38]
Chr15:40512792 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3063G>A (p.Gly1021=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444243]|Mosaic variegated aneuploidy syndrome 1 [RCV005058859] |
Chr15:40220669 [GRCh38]
Chr15:40512870 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3065T>A (p.Val1022Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002444269] |
Chr15:40220671 [GRCh38]
Chr15:40512872 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2910G>T (p.Gln970His) |
single nucleotide variant |
Inborn genetic diseases [RCV002439831]|Mosaic variegated aneuploidy syndrome 1 [RCV005098336] |
Chr15:40218515 [GRCh38]
Chr15:40510716 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3042G>A (p.Glu1014=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444019] |
Chr15:40220648 [GRCh38]
Chr15:40512849 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3050C>G (p.Ala1017Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002444114] |
Chr15:40220656 [GRCh38]
Chr15:40512857 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3062G>C (p.Gly1021Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002444236]|Mosaic variegated aneuploidy syndrome 1 [RCV003103023] |
Chr15:40220668 [GRCh38]
Chr15:40512869 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2928C>T (p.Ser976=) |
single nucleotide variant |
Inborn genetic diseases [RCV002440014] |
Chr15:40218533 [GRCh38]
Chr15:40510734 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2931C>T (p.Phe977=) |
single nucleotide variant |
Inborn genetic diseases [RCV002440072]|Mosaic variegated aneuploidy syndrome 1 [RCV003102893] |
Chr15:40218536 [GRCh38]
Chr15:40510737 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3063G>C (p.Gly1021=) |
single nucleotide variant |
Inborn genetic diseases [RCV002444246] |
Chr15:40220669 [GRCh38]
Chr15:40512870 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3103T>G (p.Leu1035Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002326009] |
Chr15:40220709 [GRCh38]
Chr15:40512910 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2781C>G (p.Leu927=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441305] |
Chr15:40217598 [GRCh38]
Chr15:40509799 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2808G>T (p.Leu936=) |
single nucleotide variant |
Inborn genetic diseases [RCV002441663] |
Chr15:40217625 [GRCh38]
Chr15:40509826 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3102C>T (p.Ala1034=) |
single nucleotide variant |
Inborn genetic diseases [RCV002325996] |
Chr15:40220708 [GRCh38]
Chr15:40512909 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2802G>C (p.Gln934His) |
single nucleotide variant |
Inborn genetic diseases [RCV002441608] |
Chr15:40217619 [GRCh38]
Chr15:40509820 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2988C>T (p.Phe996=) |
single nucleotide variant |
Inborn genetic diseases [RCV002442284]|Mosaic variegated aneuploidy syndrome 1 [RCV003102949] |
Chr15:40220594 [GRCh38]
Chr15:40512795 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2703C>T (p.Asn901=) |
single nucleotide variant |
Inborn genetic diseases [RCV002429021]|Mosaic variegated aneuploidy syndrome 1 [RCV003102122] |
Chr15:40217520 [GRCh38]
Chr15:40509721 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3128G>A (p.Ser1043Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002320546] |
Chr15:40220734 [GRCh38]
Chr15:40512935 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3115G>A (p.Gly1039Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002320431] |
Chr15:40220721 [GRCh38]
Chr15:40512922 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3125C>G (p.Thr1042Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002320518] |
Chr15:40220731 [GRCh38]
Chr15:40512932 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2870C>G (p.Ala957Gly) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002301647] |
Chr15:40218475 [GRCh38]
Chr15:40510676 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2748T>G (p.Val916=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439322] |
Chr15:40217565 [GRCh38]
Chr15:40509766 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2756G>A (p.Arg919Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002439420] |
Chr15:40217573 [GRCh38]
Chr15:40509774 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2909A>C (p.Gln970Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002439789] |
Chr15:40218514 [GRCh38]
Chr15:40510715 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2905C>T (p.Leu969=) |
single nucleotide variant |
Inborn genetic diseases [RCV002439749] |
Chr15:40218510 [GRCh38]
Chr15:40510711 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.842C>T (p.Pro281Leu) |
single nucleotide variant |
not specified [RCV004102803] |
Chr15:40266479 [GRCh38]
Chr15:40558680 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.149C>T (p.Pro50Leu) |
single nucleotide variant |
not specified [RCV004161144] |
Chr15:40264934 [GRCh38]
Chr15:40557135 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.563C>G (p.Ala188Gly) |
single nucleotide variant |
not specified [RCV004224351] |
Chr15:40266200 [GRCh38]
Chr15:40558401 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.373G>A (p.Asp125Asn) |
single nucleotide variant |
not specified [RCV004209321] |
Chr15:40266010 [GRCh38]
Chr15:40558211 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.499C>T (p.Arg167Trp) |
single nucleotide variant |
not specified [RCV004210620] |
Chr15:40266136 [GRCh38]
Chr15:40558337 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.614G>C (p.Gly205Ala) |
single nucleotide variant |
not specified [RCV004120276] |
Chr15:40266251 [GRCh38]
Chr15:40558452 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2851-5T>C |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002824107] |
Chr15:40218451 [GRCh38]
Chr15:40510652 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2829T>C (p.Ala943=) |
single nucleotide variant |
Inborn genetic diseases [RCV004071865]|Mosaic variegated aneuploidy syndrome 1 [RCV003079810] |
Chr15:40217646 [GRCh38]
Chr15:40509847 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.248C>T (p.Ser83Leu) |
single nucleotide variant |
not specified [RCV004080947] |
Chr15:40265885 [GRCh38]
Chr15:40558086 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2902C>T (p.His968Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004963352]|Mosaic variegated aneuploidy syndrome 1 [RCV003035827] |
Chr15:40218507 [GRCh38]
Chr15:40510708 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002761264] |
Chr15:40217665 [GRCh38]
Chr15:40509866 [GRCh37]
Chr15:15q15.1 |
pathogenic |
| NM_001395430.1(PAK6):c.467A>G (p.Lys156Arg) |
single nucleotide variant |
not specified [RCV004205794] |
Chr15:40266104 [GRCh38]
Chr15:40558305 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2958-13T>A |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002785306] |
Chr15:40220551 [GRCh38]
Chr15:40512752 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.1609G>A (p.Asp537Asn) |
single nucleotide variant |
not specified [RCV004234154] |
Chr15:40273464 [GRCh38]
Chr15:40565665 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1455G>T (p.Gln485His) |
single nucleotide variant |
not specified [RCV004194597] |
Chr15:40272964 [GRCh38]
Chr15:40565165 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.939G>C (p.Gln313His) |
single nucleotide variant |
not specified [RCV004102906] |
Chr15:40272304 [GRCh38]
Chr15:40564505 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3031G>T (p.Val1011Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002762902] |
Chr15:40220637 [GRCh38]
Chr15:40512838 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2820G>C (p.Lys940Asn) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002745582] |
Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3149A>G (p.Gln1050Arg) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002643379] |
Chr15:40220755 [GRCh38]
Chr15:40512956 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2957+19C>T |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002890395] |
Chr15:40218581 [GRCh38]
Chr15:40510782 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2681T>A (p.Ile894Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003161725]|Mosaic variegated aneuploidy syndrome 1 [RCV003084014] |
Chr15:40217498 [GRCh38]
Chr15:40509699 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.113C>A (p.Pro38Gln) |
single nucleotide variant |
not specified [RCV004246705] |
Chr15:40264898 [GRCh38]
Chr15:40557099 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1303G>A (p.Val435Ile) |
single nucleotide variant |
not specified [RCV004162783] |
Chr15:40272668 [GRCh38]
Chr15:40564869 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.610C>G (p.Pro204Ala) |
single nucleotide variant |
not specified [RCV004184176] |
Chr15:40266247 [GRCh38]
Chr15:40558448 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.8G>T (p.Arg3Leu) |
single nucleotide variant |
not specified [RCV004105210] |
Chr15:40264793 [GRCh38]
Chr15:40556994 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1109C>T (p.Pro370Leu) |
single nucleotide variant |
not specified [RCV004138621] |
Chr15:40272474 [GRCh38]
Chr15:40564675 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.262G>A (p.Asp88Asn) |
single nucleotide variant |
not specified [RCV004195776] |
Chr15:40265899 [GRCh38]
Chr15:40558100 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2828C>T (p.Ala943Val) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002811408] |
Chr15:40217645 [GRCh38]
Chr15:40509846 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2820G>A (p.Lys940=) |
single nucleotide variant |
Inborn genetic diseases [RCV003377890]|Mosaic variegated aneuploidy syndrome 1 [RCV002599317] |
Chr15:40217637 [GRCh38]
Chr15:40509838 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2737T>G (p.Ser913Ala) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV002810243] |
Chr15:40217554 [GRCh38]
Chr15:40509755 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3107G>T (p.Trp1036Leu) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003050399] |
Chr15:40220713 [GRCh38]
Chr15:40512914 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3119A>G (p.Lys1040Arg) |
single nucleotide variant |
Ovarian cancer [RCV003154677] |
Chr15:40220725 [GRCh38]
Chr15:40512926 [GRCh37]
Chr15:15q15.1 |
benign |
| NM_001395430.1(PAK6):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
not specified [RCV004250556] |
Chr15:40266121 [GRCh38]
Chr15:40558322 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2969G>A (p.Gly990Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003177240] |
Chr15:40220575 [GRCh38]
Chr15:40512776 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2930T>C (p.Phe977Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003177246] |
Chr15:40218535 [GRCh38]
Chr15:40510736 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.167C>T (p.Pro56Leu) |
single nucleotide variant |
not specified [RCV004273937] |
Chr15:40264952 [GRCh38]
Chr15:40557153 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2904C>G (p.His968Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003214102] |
Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2888T>C (p.Leu963Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003214106] |
Chr15:40218493 [GRCh38]
Chr15:40510694 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2828C>G (p.Ala943Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003214111]|Mosaic variegated aneuploidy syndrome 1 [RCV003779776] |
Chr15:40217645 [GRCh38]
Chr15:40509846 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1811A>T (p.Asp604Val) |
single nucleotide variant |
not specified [RCV004267040] |
Chr15:40274209 [GRCh38]
Chr15:40566410 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1291C>T (p.Arg431Cys) |
single nucleotide variant |
not specified [RCV004258698] |
Chr15:40272656 [GRCh38]
Chr15:40564857 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3061G>A (p.Gly1021Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003214119] |
Chr15:40220667 [GRCh38]
Chr15:40512868 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2931C>A (p.Phe977Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003177229] |
Chr15:40218536 [GRCh38]
Chr15:40510737 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.1057C>T (p.Arg353Cys) |
single nucleotide variant |
not specified [RCV004248558] |
Chr15:40272422 [GRCh38]
Chr15:40564623 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2942G>A (p.Ser981Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003288474] |
Chr15:40218547 [GRCh38]
Chr15:40510748 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3088C>T (p.His1030Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003310151] |
Chr15:40220694 [GRCh38]
Chr15:40512895 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2762A>C (p.Gln921Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003339063] |
Chr15:40217579 [GRCh38]
Chr15:40509780 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2706G>T (p.Lys902Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003341680] |
Chr15:40217523 [GRCh38]
Chr15:40509724 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1273C>T (p.Arg425Trp) |
single nucleotide variant |
not specified [RCV004342633] |
Chr15:40272638 [GRCh38]
Chr15:40564839 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2843C>T (p.Pro948Leu) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV004785993] |
Chr15:40217660 [GRCh38]
Chr15:40509861 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.325C>T (p.Arg109Trp) |
single nucleotide variant |
not specified [RCV004336652] |
Chr15:40265962 [GRCh38]
Chr15:40558163 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2754T>C (p.Leu918=) |
single nucleotide variant |
Inborn genetic diseases [RCV003349420] |
Chr15:40217571 [GRCh38]
Chr15:40509772 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.682C>T (p.Arg228Trp) |
single nucleotide variant |
not specified [RCV004343878] |
Chr15:40266319 [GRCh38]
Chr15:40558520 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.772C>T (p.Arg258Cys) |
single nucleotide variant |
not specified [RCV004336639] |
Chr15:40266409 [GRCh38]
Chr15:40558610 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.113C>G (p.Pro38Arg) |
single nucleotide variant |
not specified [RCV004343199] |
Chr15:40264898 [GRCh38]
Chr15:40557099 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2686G>T (p.Asp896Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003377523] |
Chr15:40217503 [GRCh38]
Chr15:40509704 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1124G>A (p.Gly375Asp) |
single nucleotide variant |
not specified [RCV004354482] |
Chr15:40272489 [GRCh38]
Chr15:40564690 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2850+18C>T |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003508631] |
Chr15:40217685 [GRCh38]
Chr15:40509886 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3045T>C (p.Leu1015=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003507132] |
Chr15:40220651 [GRCh38]
Chr15:40512852 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2885T>C (p.Leu962Ser) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003507024] |
Chr15:40218490 [GRCh38]
Chr15:40510691 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2851-14T>C |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003835931] |
Chr15:40218442 [GRCh38]
Chr15:40510643 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2706G>C (p.Lys902Asn) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003811637] |
Chr15:40217523 [GRCh38]
Chr15:40509724 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003618534] |
Chr15:40218501 [GRCh38]
Chr15:40510702 [GRCh37]
Chr15:15q15.1 |
pathogenic |
| NM_001211.6(BUB1B):c.2921A>C (p.Asp974Ala) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003617552] |
Chr15:40218526 [GRCh38]
Chr15:40510727 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2957+5G>A |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003617788] |
Chr15:40218567 [GRCh38]
Chr15:40510768 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3029C>G (p.Ser1010Cys) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV003860116] |
Chr15:40220635 [GRCh38]
Chr15:40512836 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.410G>A (p.Arg137His) |
single nucleotide variant |
not specified [RCV004499997] |
Chr15:40266047 [GRCh38]
Chr15:40558248 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.41C>T (p.Ala14Val) |
single nucleotide variant |
not specified [RCV004499998] |
Chr15:40264826 [GRCh38]
Chr15:40557027 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1069G>A (p.Ala357Thr) |
single nucleotide variant |
not specified [RCV004499987] |
Chr15:40272434 [GRCh38]
Chr15:40564635 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1306A>G (p.Lys436Glu) |
single nucleotide variant |
not specified [RCV004499989] |
Chr15:40272671 [GRCh38]
Chr15:40564872 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.946G>A (p.Gly316Arg) |
single nucleotide variant |
not specified [RCV004500000] |
Chr15:40272311 [GRCh38]
Chr15:40564512 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1985G>A (p.Gly662Glu) |
single nucleotide variant |
not specified [RCV004499993] |
Chr15:40276033 [GRCh38]
Chr15:40568234 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.215G>A (p.Arg72Gln) |
single nucleotide variant |
not specified [RCV004499994] |
Chr15:40265852 [GRCh38]
Chr15:40558053 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.713C>T (p.Thr238Ile) |
single nucleotide variant |
not specified [RCV004499999] |
Chr15:40266350 [GRCh38]
Chr15:40558551 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NR_168270.1(PAK6-AS1):n.214G>T |
single nucleotide variant |
not specified [RCV004500001] |
Chr15:40252746 [GRCh38]
Chr15:40544947 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2682C>G (p.Ile894Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004508254] |
Chr15:40217499 [GRCh38]
Chr15:40509700 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2690C>G (p.Pro897Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004508255] |
Chr15:40217507 [GRCh38]
Chr15:40509708 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.26G>A (p.Arg9His) |
single nucleotide variant |
not specified [RCV004499995] |
Chr15:40264811 [GRCh38]
Chr15:40557012 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.40G>C (p.Ala14Pro) |
single nucleotide variant |
not specified [RCV004499996] |
Chr15:40264825 [GRCh38]
Chr15:40557026 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NR_168270.1(PAK6-AS1):n.228G>A |
single nucleotide variant |
not specified [RCV004500002] |
Chr15:40252732 [GRCh38]
Chr15:40544933 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NR_168270.1(PAK6-AS1):n.166G>T |
single nucleotide variant |
not specified [RCV004500003] |
Chr15:40252794 [GRCh38]
Chr15:40544995 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2898G>T (p.Lys966Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004508261] |
Chr15:40218503 [GRCh38]
Chr15:40510704 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2910G>A (p.Gln970=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508262] |
Chr15:40218515 [GRCh38]
Chr15:40510716 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2913C>G (p.Val971=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508263] |
Chr15:40218518 [GRCh38]
Chr15:40510719 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2947A>G (p.Asn983Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004508265] |
Chr15:40218552 [GRCh38]
Chr15:40510753 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3007G>A (p.Ala1003Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004508266] |
Chr15:40220613 [GRCh38]
Chr15:40512814 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3012T>C (p.Asn1004=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508267] |
Chr15:40220618 [GRCh38]
Chr15:40512819 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3013G>A (p.Asp1005Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004508268] |
Chr15:40220619 [GRCh38]
Chr15:40512820 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2691C>T (p.Pro897=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508256] |
Chr15:40217508 [GRCh38]
Chr15:40509709 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2696A>G (p.Asp899Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004508257] |
Chr15:40217513 [GRCh38]
Chr15:40509714 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2779C>T (p.Leu927Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004508258] |
Chr15:40217596 [GRCh38]
Chr15:40509797 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2844C>T (p.Pro948=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508259] |
Chr15:40217661 [GRCh38]
Chr15:40509862 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2876T>C (p.Leu959Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004508260] |
Chr15:40218481 [GRCh38]
Chr15:40510682 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3026T>G (p.Val1009Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004508270] |
Chr15:40220632 [GRCh38]
Chr15:40512833 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3116G>A (p.Gly1039Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004508271] |
Chr15:40220722 [GRCh38]
Chr15:40512923 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3117G>A (p.Gly1039=) |
single nucleotide variant |
Inborn genetic diseases [RCV004508272] |
Chr15:40220723 [GRCh38]
Chr15:40512924 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3125C>T (p.Thr1042Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004508273] |
Chr15:40220731 [GRCh38]
Chr15:40512932 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3127A>T (p.Ser1043Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004508274] |
Chr15:40220733 [GRCh38]
Chr15:40512934 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3134G>A (p.Gly1045Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004508275] |
Chr15:40220740 [GRCh38]
Chr15:40512941 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1951G>A (p.Glu651Lys) |
single nucleotide variant |
not specified [RCV004499992] |
Chr15:40275999 [GRCh38]
Chr15:40568200 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1292G>T (p.Arg431Leu) |
single nucleotide variant |
not specified [RCV004499988] |
Chr15:40272657 [GRCh38]
Chr15:40564858 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.157G>A (p.Val53Met) |
single nucleotide variant |
not specified [RCV004499990] |
Chr15:40264942 [GRCh38]
Chr15:40557143 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1853C>A (p.Pro618Gln) |
single nucleotide variant |
not specified [RCV004499991] |
Chr15:40274251 [GRCh38]
Chr15:40566452 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2812G>A (p.Gly938Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004604292] |
Chr15:40217629 [GRCh38]
Chr15:40509830 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2717C>T (p.Ala906Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004604301] |
Chr15:40217534 [GRCh38]
Chr15:40509735 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3098A>G (p.Lys1033Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004607208] |
Chr15:40220704 [GRCh38]
Chr15:40512905 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1046C>T (p.Ala349Val) |
single nucleotide variant |
not specified [RCV004650729] |
Chr15:40272411 [GRCh38]
Chr15:40564612 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.917C>G (p.Ala306Gly) |
single nucleotide variant |
not specified [RCV004650731] |
Chr15:40272282 [GRCh38]
Chr15:40564483 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3124A>T (p.Thr1042Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004604261] |
Chr15:40220730 [GRCh38]
Chr15:40512931 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.142C>T (p.Arg48Trp) |
single nucleotide variant |
not specified [RCV004664027] |
Chr15:40264927 [GRCh38]
Chr15:40557128 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3048A>G (p.Ala1016=) |
single nucleotide variant |
Inborn genetic diseases [RCV004604250] |
Chr15:40220654 [GRCh38]
Chr15:40512855 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2759T>G (p.Val920Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004604252]|Mosaic variegated aneuploidy syndrome 1 [RCV005102109] |
Chr15:40217576 [GRCh38]
Chr15:40509777 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2967T>C (p.Asp989=) |
single nucleotide variant |
Inborn genetic diseases [RCV004604258] |
Chr15:40220573 [GRCh38]
Chr15:40512774 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2896A>G (p.Lys966Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604267] |
Chr15:40218501 [GRCh38]
Chr15:40510702 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3037G>C (p.Gly1013Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004604271] |
Chr15:40220643 [GRCh38]
Chr15:40512844 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.3047C>A (p.Ala1016Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604295] |
Chr15:40220653 [GRCh38]
Chr15:40512854 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3025G>T (p.Val1009Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604299] |
Chr15:40220631 [GRCh38]
Chr15:40512832 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2787C>T (p.Gly929=) |
single nucleotide variant |
Inborn genetic diseases [RCV004604279] |
Chr15:40217604 [GRCh38]
Chr15:40509805 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.620C>T (p.Ser207Leu) |
single nucleotide variant |
not specified [RCV004664028] |
Chr15:40266257 [GRCh38]
Chr15:40558458 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1231G>A (p.Val411Met) |
single nucleotide variant |
not specified [RCV004664029] |
Chr15:40272596 [GRCh38]
Chr15:40564797 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3131C>G (p.Pro1044Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004607204] |
Chr15:40220737 [GRCh38]
Chr15:40512938 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2904C>T (p.His968=) |
single nucleotide variant |
Inborn genetic diseases [RCV004604266] |
Chr15:40218509 [GRCh38]
Chr15:40510710 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001395430.1(PAK6):c.1093T>C (p.Tyr365His) |
single nucleotide variant |
not specified [RCV004650730] |
Chr15:40272458 [GRCh38]
Chr15:40564659 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2797G>T (p.Val933Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604246] |
Chr15:40217614 [GRCh38]
Chr15:40509815 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3135G>C (p.Gly1045=) |
single nucleotide variant |
Inborn genetic diseases [RCV004604268] |
Chr15:40220741 [GRCh38]
Chr15:40512942 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2786G>T (p.Gly929Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004604278] |
Chr15:40217603 [GRCh38]
Chr15:40509804 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2927C>T (p.Ser976Phe) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005009555] |
Chr15:40218532 [GRCh38]
Chr15:40510733 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.424G>A (p.Gly142Ser) |
single nucleotide variant |
not specified [RCV004839124] |
Chr15:40266061 [GRCh38]
Chr15:40558262 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.550G>A (p.Glu184Lys) |
single nucleotide variant |
not specified [RCV004839126] |
Chr15:40266187 [GRCh38]
Chr15:40558388 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.895C>A (p.Pro299Thr) |
single nucleotide variant |
not specified [RCV004839127] |
Chr15:40272260 [GRCh38]
Chr15:40564461 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3136G>T (p.Ala1046Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004970222] |
Chr15:40220742 [GRCh38]
Chr15:40512943 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2683C>T (p.His895Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004970235] |
Chr15:40217500 [GRCh38]
Chr15:40509701 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2945A>G (p.Gln982Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004970256] |
Chr15:40218550 [GRCh38]
Chr15:40510751 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3003G>T (p.Leu1001=) |
single nucleotide variant |
Inborn genetic diseases [RCV004970267] |
Chr15:40220609 [GRCh38]
Chr15:40512810 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2692T>C (p.Tyr898His) |
single nucleotide variant |
Inborn genetic diseases [RCV004970305] |
Chr15:40217509 [GRCh38]
Chr15:40509710 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.463C>T (p.His155Tyr) |
single nucleotide variant |
not specified [RCV004839125] |
Chr15:40266100 [GRCh38]
Chr15:40558301 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.1704G>A (p.Met568Ile) |
single nucleotide variant |
not specified [RCV004839129] |
Chr15:40273637 [GRCh38]
Chr15:40565838 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2842C>T (p.Pro948Ser) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005009553] |
Chr15:40217659 [GRCh38]
Chr15:40509860 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2905C>G (p.Leu969Val) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005009554] |
Chr15:40218510 [GRCh38]
Chr15:40510711 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001395430.1(PAK6):c.833A>T (p.Lys278Met) |
single nucleotide variant |
not specified [RCV004839128] |
Chr15:40266470 [GRCh38]
Chr15:40558671 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3072C>T (p.Asp1024=) |
single nucleotide variant |
Inborn genetic diseases [RCV004970220] |
Chr15:40220678 [GRCh38]
Chr15:40512879 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2709C>T (p.Asn903=) |
single nucleotide variant |
Inborn genetic diseases [RCV004970261] |
Chr15:40217526 [GRCh38]
Chr15:40509727 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2909A>G (p.Gln970Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004970283] |
Chr15:40218514 [GRCh38]
Chr15:40510715 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2744G>A (p.Ser915Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004970315] |
Chr15:40217561 [GRCh38]
Chr15:40509762 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3085A>G (p.Ser1029Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004970335] |
Chr15:40220691 [GRCh38]
Chr15:40512892 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2713C>G (p.Gln905Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004970338] |
Chr15:40217530 [GRCh38]
Chr15:40509731 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2907A>G (p.Leu969=) |
single nucleotide variant |
Inborn genetic diseases [RCV004970326] |
Chr15:40218512 [GRCh38]
Chr15:40510713 [GRCh37]
Chr15:15q15.1 |
likely benign |
| NM_001211.6(BUB1B):c.2923G>A (p.Gly975Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004970242] |
Chr15:40218528 [GRCh38]
Chr15:40510729 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3127A>C (p.Ser1043Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004970265] |
Chr15:40220733 [GRCh38]
Chr15:40512934 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3043C>A (p.Leu1015Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004970237] |
Chr15:40220649 [GRCh38]
Chr15:40512850 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2687A>G (p.Asp896Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004970249] |
Chr15:40217504 [GRCh38]
Chr15:40509705 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3002T>C (p.Leu1001Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004970266] |
Chr15:40220608 [GRCh38]
Chr15:40512809 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2867T>C (p.Ile956Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004970286] |
Chr15:40218472 [GRCh38]
Chr15:40510673 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2716G>A (p.Ala906Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004970297] |
Chr15:40217533 [GRCh38]
Chr15:40509734 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2680A>G (p.Ile894Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004970239] |
Chr15:40217497 [GRCh38]
Chr15:40509698 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2984A>C (p.Lys995Thr) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005146788] |
Chr15:40220590 [GRCh38]
Chr15:40512791 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2850G>A (p.Gln950=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005066716] |
Chr15:40217667 [GRCh38]
Chr15:40509868 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2891T>C (p.Leu964Ser) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005190939] |
Chr15:40218496 [GRCh38]
Chr15:40510697 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.3059A>G (p.Asn1020Ser) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005164690] |
Chr15:40220665 [GRCh38]
Chr15:40512866 [GRCh37]
Chr15:15q15.1 |
uncertain significance |
| NM_001211.6(BUB1B):c.2973A>G (p.Glu991=) |
single nucleotide variant |
Mosaic variegated aneuploidy syndrome 1 [RCV005074312] |
Chr15:40220579 [GRCh38]
Chr15:40512780 [GRCh37]
Chr15:15q15.1 |
likely benign |
