GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] |
Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 |
copy number gain |
See cases [RCV000052347] |
Chr15:77543797..101843411 [GRCh38] Chr15:77836139..102383614 [GRCh37] Chr15:75623194..100201137 [NCBI36] Chr15:15q24.3-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 |
copy number gain |
See cases [RCV000052352] |
Chr15:84169153..101904929 [GRCh38] Chr15:84837905..102445132 [GRCh37] Chr15:82628909..100262655 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
NM_022480.3(KLHL25):c.50C>T (p.Ser17Phe) |
single nucleotide variant |
Malignant melanoma [RCV000070934] |
Chr15:85769761 [GRCh38] Chr15:86312992 [GRCh37] Chr15:84113996 [NCBI36] Chr15:15q25.3 |
not provided |
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 |
copy number gain |
See cases [RCV000135858] |
Chr15:83711377..101843270 [GRCh38] Chr15:84380129..102383473 [GRCh37] Chr15:82171133..100200996 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 |
copy number gain |
See cases [RCV000136849] |
Chr15:82859676..101810992 [GRCh38] Chr15:83528428..102351195 [GRCh37] Chr15:81325482..100168718 [NCBI36] Chr15:15q25.2-26.3 |
pathogenic |
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 |
copy number gain |
See cases [RCV000141899] |
Chr15:85397539..101888909 [GRCh38] Chr15:85940770..102429112 [GRCh37] Chr15:83741774..100246635 [NCBI36] Chr15:15q25.3-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 |
copy number gain |
See cases [RCV000143019] |
Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 |
copy number gain |
See cases [RCV000511332] |
Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 |
copy number gain |
See cases [RCV000449119] |
Chr15:85089467..102495441 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 |
copy number gain |
See cases [RCV000445705] |
Chr15:80648093..102429112 [GRCh37] Chr15:15q25.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 |
copy number gain |
See cases [RCV000448044] |
Chr15:86148286..102511616 [GRCh37] Chr15:15q25.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_022480.4(KLHL25):c.44C>T (p.Thr15Met) |
single nucleotide variant |
not specified [RCV004296574] |
Chr15:85769767 [GRCh38] Chr15:86312998 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.394G>A (p.Val132Met) |
single nucleotide variant |
not specified [RCV004293046] |
Chr15:85769417 [GRCh38] Chr15:86312648 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1733C>T (p.Thr578Met) |
single nucleotide variant |
not specified [RCV004296071] |
Chr15:85768078 [GRCh38] Chr15:86311309 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1034C>T (p.Thr345Met) |
single nucleotide variant |
not specified [RCV004324568] |
Chr15:85768777 [GRCh38] Chr15:86312008 [GRCh37] Chr15:15q25.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 |
copy number gain |
not provided [RCV000683703] |
Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 |
copy number gain |
not provided [RCV000683712] |
Chr15:79023343..87158823 [GRCh37] Chr15:15q25.1-25.3 |
pathogenic |
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 |
copy number gain |
not provided [RCV000683710] |
Chr15:77479244..102429112 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) |
copy number loss |
not provided [RCV000767759] |
Chr15:83883823..92165844 [GRCh37] Chr15:15q25.2-26.1 |
pathogenic |
NM_022480.4(KLHL25):c.973G>A (p.Asp325Asn) |
single nucleotide variant |
not specified [RCV004282428] |
Chr15:85768838 [GRCh38] Chr15:86312069 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1715C>T (p.Pro572Leu) |
single nucleotide variant |
not specified [RCV004294865] |
Chr15:85768096 [GRCh38] Chr15:86311327 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
not specified [RCV004313177] |
Chr15:85769111 [GRCh38] Chr15:86312342 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q25.3(chr15:86321274-87025980)x3 |
copy number gain |
not provided [RCV001006717] |
Chr15:86321274..87025980 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q25.3(chr15:86299113-86724844)x3 |
copy number gain |
not provided [RCV001006716] |
Chr15:86299113..86724844 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NC_000015.9:g.(?_32964879)_(91358519_?)dup |
duplication |
Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] |
Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
GRCh37/hg19 15q25.3(chr15:86299840-86725153) |
copy number gain |
not specified [RCV002052485] |
Chr15:86299840..86725153 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1514C>G (p.Ala505Gly) |
single nucleotide variant |
not specified [RCV004193795] |
Chr15:85768297 [GRCh38] Chr15:86311528 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.485G>A (p.Arg162His) |
single nucleotide variant |
not specified [RCV004237668] |
Chr15:85769326 [GRCh38] Chr15:86312557 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.678G>C (p.Lys226Asn) |
single nucleotide variant |
not specified [RCV004125972] |
Chr15:85769133 [GRCh38] Chr15:86312364 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 |
copy number gain |
not provided [RCV002475797] |
Chr15:77512817..102035027 [GRCh37] Chr15:15q24.3-26.3 |
pathogenic |
NM_022480.4(KLHL25):c.811C>T (p.Arg271Cys) |
single nucleotide variant |
not specified [RCV004191996] |
Chr15:85769000 [GRCh38] Chr15:86312231 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.866G>C (p.Arg289Pro) |
single nucleotide variant |
not specified [RCV004170086] |
Chr15:85768945 [GRCh38] Chr15:86312176 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1072G>A (p.Val358Ile) |
single nucleotide variant |
not specified [RCV004140108] |
Chr15:85768739 [GRCh38] Chr15:86311970 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.275A>G (p.Asn92Ser) |
single nucleotide variant |
not specified [RCV004206542] |
Chr15:85769536 [GRCh38] Chr15:86312767 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.119G>A (p.Arg40His) |
single nucleotide variant |
not specified [RCV004175831] |
Chr15:85769692 [GRCh38] Chr15:86312923 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.64C>A (p.Leu22Ile) |
single nucleotide variant |
not specified [RCV004120809] |
Chr15:85769747 [GRCh38] Chr15:86312978 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.584A>G (p.Asp195Gly) |
single nucleotide variant |
not specified [RCV004113089] |
Chr15:85769227 [GRCh38] Chr15:86312458 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1708A>G (p.Thr570Ala) |
single nucleotide variant |
not specified [RCV004232712] |
Chr15:85768103 [GRCh38] Chr15:86311334 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1382A>G (p.Lys461Arg) |
single nucleotide variant |
not specified [RCV004160152] |
Chr15:85768429 [GRCh38] Chr15:86311660 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1447C>T (p.Arg483Trp) |
single nucleotide variant |
not specified [RCV004177284] |
Chr15:85768364 [GRCh38] Chr15:86311595 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1643G>T (p.Gly548Val) |
single nucleotide variant |
not specified [RCV004128282] |
Chr15:85768168 [GRCh38] Chr15:86311399 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.62C>T (p.Thr21Ile) |
single nucleotide variant |
not specified [RCV004166640] |
Chr15:85769749 [GRCh38] Chr15:86312980 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1090G>A (p.Val364Ile) |
single nucleotide variant |
not specified [RCV004201460] |
Chr15:85768721 [GRCh38] Chr15:86311952 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.409G>A (p.Ala137Thr) |
single nucleotide variant |
not specified [RCV004181289] |
Chr15:85769402 [GRCh38] Chr15:86312633 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
not specified [RCV004076577] |
Chr15:85768600 [GRCh38] Chr15:86311831 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1142A>G (p.His381Arg) |
single nucleotide variant |
not specified [RCV004165004] |
Chr15:85768669 [GRCh38] Chr15:86311900 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1403C>T (p.Ser468Leu) |
single nucleotide variant |
not specified [RCV004130311] |
Chr15:85768408 [GRCh38] Chr15:86311639 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1429G>A (p.Glu477Lys) |
single nucleotide variant |
not specified [RCV004217976] |
Chr15:85768382 [GRCh38] Chr15:86311613 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.793A>T (p.Ile265Phe) |
single nucleotide variant |
not specified [RCV004077775] |
Chr15:85769018 [GRCh38] Chr15:86312249 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 |
copy number gain |
not provided [RCV003222839] |
Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1 |
pathogenic |
NM_022480.4(KLHL25):c.1726A>G (p.Ile576Val) |
single nucleotide variant |
not specified [RCV004258090] |
Chr15:85768085 [GRCh38] Chr15:86311316 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 |
copy number gain |
not provided [RCV003222840] |
Chr15:84228005..102264590 [GRCh37] Chr15:15q25.2-26.3 |
pathogenic |
NM_022480.4(KLHL25):c.239G>A (p.Arg80Gln) |
single nucleotide variant |
not specified [RCV004262736] |
Chr15:85769572 [GRCh38] Chr15:86312803 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.488G>A (p.Arg163Gln) |
single nucleotide variant |
not specified [RCV004267087] |
Chr15:85769323 [GRCh38] Chr15:86312554 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.796A>G (p.Met266Val) |
single nucleotide variant |
not specified [RCV004279392] |
Chr15:85769015 [GRCh38] Chr15:86312246 [GRCh37] Chr15:15q25.3 |
likely benign |
NM_022480.4(KLHL25):c.446G>T (p.Cys149Phe) |
single nucleotide variant |
not specified [RCV004329848] |
Chr15:85769365 [GRCh38] Chr15:86312596 [GRCh37] Chr15:15q25.3 |
uncertain significance |
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 |
copy number gain |
See cases [RCV003329502] |
Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3 |
pathogenic |
NM_022480.4(KLHL25):c.547G>A (p.Glu183Lys) |
single nucleotide variant |
not specified [RCV004356330] |
Chr15:85769264 [GRCh38] Chr15:86312495 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.226A>G (p.Ser76Gly) |
single nucleotide variant |
not specified [RCV004336291] |
Chr15:85769585 [GRCh38] Chr15:86312816 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1153G>A (p.Glu385Lys) |
single nucleotide variant |
not specified [RCV004409369] |
Chr15:85768658 [GRCh38] Chr15:86311889 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1180G>A (p.Gly394Arg) |
single nucleotide variant |
not specified [RCV004409370] |
Chr15:85768631 [GRCh38] Chr15:86311862 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1201G>C (p.Gly401Arg) |
single nucleotide variant |
not specified [RCV004409371] |
Chr15:85768610 [GRCh38] Chr15:86311841 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1423A>G (p.Lys475Glu) |
single nucleotide variant |
not specified [RCV004409372] |
Chr15:85768388 [GRCh38] Chr15:86311619 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1465G>A (p.Val489Ile) |
single nucleotide variant |
not specified [RCV004409373] |
Chr15:85768346 [GRCh38] Chr15:86311577 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1486A>T (p.Ile496Phe) |
single nucleotide variant |
not specified [RCV004409374] |
Chr15:85768325 [GRCh38] Chr15:86311556 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1678C>G (p.Pro560Ala) |
single nucleotide variant |
not specified [RCV004409375] |
Chr15:85768133 [GRCh38] Chr15:86311364 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1721C>T (p.Ser574Leu) |
single nucleotide variant |
not specified [RCV004409376] |
Chr15:85768090 [GRCh38] Chr15:86311321 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.206G>A (p.Arg69His) |
single nucleotide variant |
not specified [RCV004409377] |
Chr15:85769605 [GRCh38] Chr15:86312836 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.358C>G (p.Leu120Val) |
single nucleotide variant |
not specified [RCV004409379] |
Chr15:85769453 [GRCh38] Chr15:86312684 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.373G>A (p.Asp125Asn) |
single nucleotide variant |
not specified [RCV004409380] |
Chr15:85769438 [GRCh38] Chr15:86312669 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.388C>T (p.His130Tyr) |
single nucleotide variant |
not specified [RCV004409381] |
Chr15:85769423 [GRCh38] Chr15:86312654 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.409G>C (p.Ala137Pro) |
single nucleotide variant |
not specified [RCV004409382] |
Chr15:85769402 [GRCh38] Chr15:86312633 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.469G>A (p.Asp157Asn) |
single nucleotide variant |
not specified [RCV004409383] |
Chr15:85769342 [GRCh38] Chr15:86312573 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.508C>A (p.Arg170Ser) |
single nucleotide variant |
not specified [RCV004409385] |
Chr15:85769303 [GRCh38] Chr15:86312534 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.613G>A (p.Glu205Lys) |
single nucleotide variant |
not specified [RCV004409386] |
Chr15:85769198 [GRCh38] Chr15:86312429 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.619G>A (p.Glu207Lys) |
single nucleotide variant |
not specified [RCV004409387] |
Chr15:85769192 [GRCh38] Chr15:86312423 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.661G>A (p.Asp221Asn) |
single nucleotide variant |
not specified [RCV004409388] |
Chr15:85769150 [GRCh38] Chr15:86312381 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.669G>T (p.Glu223Asp) |
single nucleotide variant |
not specified [RCV004409390] |
Chr15:85769142 [GRCh38] Chr15:86312373 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.679G>T (p.Val227Phe) |
single nucleotide variant |
not specified [RCV004409391] |
Chr15:85769132 [GRCh38] Chr15:86312363 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.988C>T (p.Arg330Trp) |
single nucleotide variant |
not specified [RCV004409392] |
Chr15:85768823 [GRCh38] Chr15:86312054 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.385T>A (p.Phe129Ile) |
single nucleotide variant |
not specified [RCV004631557] |
Chr15:85769426 [GRCh38] Chr15:86312657 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.338A>G (p.Asn113Ser) |
single nucleotide variant |
not specified [RCV004631558] |
Chr15:85769473 [GRCh38] Chr15:86312704 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.761C>T (p.Ala254Val) |
single nucleotide variant |
not specified [RCV004631560] |
Chr15:85769050 [GRCh38] Chr15:86312281 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.593C>T (p.Ser198Leu) |
single nucleotide variant |
not specified [RCV004644122] |
Chr15:85769218 [GRCh38] Chr15:86312449 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1630G>A (p.Gly544Arg) |
single nucleotide variant |
not specified [RCV004941468] |
Chr15:85768181 [GRCh38] Chr15:86311412 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.86C>T (p.Pro29Leu) |
single nucleotide variant |
not specified [RCV004941470] |
Chr15:85769725 [GRCh38] Chr15:86312956 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1422C>G (p.Ile474Met) |
single nucleotide variant |
not specified [RCV004941473] |
Chr15:85768389 [GRCh38] Chr15:86311620 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.607G>A (p.Glu203Lys) |
single nucleotide variant |
not specified [RCV004941475] |
Chr15:85769204 [GRCh38] Chr15:86312435 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.180C>A (p.His60Gln) |
single nucleotide variant |
not specified [RCV004941476] |
Chr15:85769631 [GRCh38] Chr15:86312862 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.674G>A (p.Arg225Gln) |
single nucleotide variant |
not specified [RCV004941469] |
Chr15:85769137 [GRCh38] Chr15:86312368 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.745G>A (p.Ala249Thr) |
single nucleotide variant |
not specified [RCV004941474] |
Chr15:85769066 [GRCh38] Chr15:86312297 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1400C>A (p.Pro467His) |
single nucleotide variant |
not specified [RCV004941478] |
Chr15:85768411 [GRCh38] Chr15:86311642 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.473C>T (p.Ala158Val) |
single nucleotide variant |
not specified [RCV004941479] |
Chr15:85769338 [GRCh38] Chr15:86312569 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.697C>A (p.Leu233Ile) |
single nucleotide variant |
not specified [RCV004941477] |
Chr15:85769114 [GRCh38] Chr15:86312345 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.122A>G (p.Lys41Arg) |
single nucleotide variant |
not specified [RCV004941471] |
Chr15:85769689 [GRCh38] Chr15:86312920 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1364A>G (p.His455Arg) |
single nucleotide variant |
not specified [RCV004941472] |
Chr15:85768447 [GRCh38] Chr15:86311678 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.911C>A (p.Thr304Asn) |
single nucleotide variant |
not specified [RCV004644121] |
Chr15:85768900 [GRCh38] Chr15:86312131 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.335T>C (p.Ile112Thr) |
single nucleotide variant |
not specified [RCV004316112] |
Chr15:85769476 [GRCh38] Chr15:86312707 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.1766C>T (p.Ala589Val) |
single nucleotide variant |
not specified [RCV004340828] |
Chr15:85768045 [GRCh38] Chr15:86311276 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.247C>T (p.Arg83Trp) |
single nucleotide variant |
not specified [RCV004644118] |
Chr15:85769564 [GRCh38] Chr15:86312795 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.706G>A (p.Val236Met) |
single nucleotide variant |
not specified [RCV004644119] |
Chr15:85769105 [GRCh38] Chr15:86312336 [GRCh37] Chr15:15q25.3 |
uncertain significance |
NM_022480.4(KLHL25):c.348C>G (p.Asn116Lys) |
single nucleotide variant |
not specified [RCV004644120] |
Chr15:85769463 [GRCh38] Chr15:86312694 [GRCh37] Chr15:15q25.3 |
uncertain significance |