KL, KL-VS HAPLOTYPE |
variation |
KLOTHO POLYMORPHISM [RCV000005674] |
Chr13:13q12 |
risk factor|benign |
NM_004795.4(KL):c.578A>G (p.His193Arg) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758698]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000005675]|not provided [RCV003555927] |
Chr13:33017018 [GRCh38] Chr13:33591156 [GRCh37] Chr13:13q13.1 |
pathogenic|likely pathogenic|uncertain significance|not provided |
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 |
copy number gain |
See cases [RCV000050293] |
Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 |
copy number loss |
See cases [RCV000051373] |
Chr13:30697728..69471973 [GRCh38] Chr13:31271865..70046105 [GRCh37] Chr13:30169865..68944106 [NCBI36] Chr13:13q12.3-21.33 |
pathogenic |
GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1 |
copy number loss |
See cases [RCV000051374] |
Chr13:31164047..34428736 [GRCh38] Chr13:31738184..35002873 [GRCh37] Chr13:30636184..33900873 [NCBI36] Chr13:13q12.3-13.2 |
pathogenic |
GRCh38/hg38 13q13.1(chr13:33018055-33389580)x1 |
copy number loss |
See cases [RCV000051891] |
Chr13:33018055..33389580 [GRCh38] Chr13:33592193..33963717 [GRCh37] Chr13:32490193..32861717 [NCBI36] Chr13:13q13.1 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000053731] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 |
copy number gain |
See cases [RCV000053737] |
Chr13:30318913..83610426 [GRCh38] Chr13:30893050..84184561 [GRCh37] Chr13:29791050..83082562 [NCBI36] Chr13:13q12.3-31.1 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 |
copy number gain |
See cases [RCV000053719] |
Chr13:18565048..114327173 [GRCh38] Chr13:19139188..115085141 [GRCh37] Chr13:18037188..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 |
copy number gain |
See cases [RCV000053721] |
Chr13:18676442..37656039 [GRCh38] Chr13:19250582..38230176 [GRCh37] Chr13:18148582..37128176 [NCBI36] Chr13:13q11-13.3 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 |
copy number gain |
See cases [RCV000053723] |
Chr13:18850545..114327173 [GRCh38] Chr13:19296527..115085141 [GRCh37] Chr13:18194527..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 |
copy number gain |
See cases [RCV000053726] |
Chr13:18946182..114304628 [GRCh38] Chr13:19520322..115070103 [GRCh37] Chr13:18418322..114088205 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
NM_004795.3(KL):c.1558C>T (p.Pro520Ser) |
single nucleotide variant |
Malignant melanoma [RCV000070340] |
Chr13:33055274 [GRCh38] Chr13:33629411 [GRCh37] Chr13:32527411 [NCBI36] Chr13:13q13.1 |
not provided |
NM_004795.3(KL):c.2319G>A (p.Val773=) |
single nucleotide variant |
Malignant melanoma [RCV000070341] |
Chr13:33061398 [GRCh38] Chr13:33635535 [GRCh37] Chr13:32533535 [NCBI36] Chr13:13q13.1 |
not provided |
NM_004795.3(KL):c.1647G>A (p.Trp549Ter) |
single nucleotide variant |
Malignant melanoma [RCV000062663] |
Chr13:33060726 [GRCh38] Chr13:33634863 [GRCh37] Chr13:32532863 [NCBI36] Chr13:13q13.1 |
not provided |
NM_004795.4(KL):c.2505C>G (p.Asp835Glu) |
single nucleotide variant |
not provided [RCV000054732] |
Chr13:33061584 [GRCh38] Chr13:33635721 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2683A>G (p.Ile895Val) |
single nucleotide variant |
not provided [RCV000054733] |
Chr13:33061762 [GRCh38] Chr13:33635899 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002483077]|not provided [RCV000054734] |
Chr13:33061763 [GRCh38] Chr13:33635900 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2862G>A (p.Pro954=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002483078]|not provided [RCV000054735] |
Chr13:33064009 [GRCh38] Chr13:33638146 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.3029G>A (p.Ser1010Asn) |
single nucleotide variant |
not provided [RCV000054736] |
Chr13:33064176 [GRCh38] Chr13:33638313 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.387C>T (p.Tyr129=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113055]|not provided [RCV000054737] |
Chr13:33016827 [GRCh38] Chr13:33590965 [GRCh37] Chr13:13q13.1 |
benign|likely benign|uncertain significance |
NM_004795.4(KL):c.497A>G (p.Asn166Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002477179]|not provided [RCV000054738] |
Chr13:33016937 [GRCh38] Chr13:33591075 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.639C>A (p.Ala213=) |
single nucleotide variant |
not provided [RCV000054739] |
Chr13:33017079 [GRCh38] Chr13:33591217 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2417T>G (p.Leu806Ter) |
single nucleotide variant |
not provided [RCV003104460] |
Chr13:33061496 [GRCh38] Chr13:33635633 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 |
copy number gain |
See cases [RCV000134104] |
Chr13:19833130..114298614 [GRCh38] Chr13:20407270..115064089 [GRCh37] Chr13:19305270..114082191 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 |
copy number gain |
See cases [RCV000135808] |
Chr13:31553608..65470367 [GRCh38] Chr13:32127745..66044499 [GRCh37] Chr13:31025745..64942500 [NCBI36] Chr13:13q12.3-21.32 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 |
copy number loss |
See cases [RCV000135610] |
Chr13:18445862..114327173 [GRCh38] Chr13:19020001..115085141 [GRCh37] Chr13:10098739..114110750 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 |
copy number gain |
See cases [RCV000137892] |
Chr13:19671934..40914767 [GRCh38] Chr13:20246074..41488903 [GRCh37] Chr13:19144074..40386903 [NCBI36] Chr13:13q12.11-14.11 |
pathogenic |
GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1 |
copy number loss |
See cases [RCV000137923] |
Chr13:29073320..36556014 [GRCh38] Chr13:29647457..37130151 [GRCh37] Chr13:28545457..36028151 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 |
copy number loss |
See cases [RCV000138723] |
Chr13:31018160..48491204 [GRCh38] Chr13:31592297..49065340 [GRCh37] Chr13:30490297..47963341 [NCBI36] Chr13:13q12.3-14.2 |
pathogenic |
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 |
copy number gain |
See cases [RCV000138339] |
Chr13:32531486..86757044 [GRCh38] Chr13:33105623..87409299 [GRCh37] Chr13:32003623..86207300 [NCBI36] Chr13:13q13.1-31.1 |
pathogenic |
GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1 |
copy number loss |
See cases [RCV000139225] |
Chr13:30313809..39267681 [GRCh38] Chr13:30887946..39841818 [GRCh37] Chr13:29785946..38739818 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 |
copy number gain |
See cases [RCV000139078] |
Chr13:19833130..114327106 [GRCh38] Chr13:20407270..115085141 [GRCh37] Chr13:19305270..114110683 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 |
copy number gain |
See cases [RCV000140004] |
Chr13:18456040..114340285 [GRCh38] Chr13:19030180..115105760 [GRCh37] Chr13:17928180..114123862 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 |
copy number gain |
See cases [RCV000141867] |
Chr13:18862146..33577351 [GRCh38] Chr13:19436286..34151488 [GRCh37] Chr13:18334286..33049488 [NCBI36] Chr13:13q11-13.2 |
pathogenic |
GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3 |
copy number gain |
See cases [RCV000142869] |
Chr13:29321454..36995348 [GRCh38] Chr13:29895591..37569485 [GRCh37] Chr13:28793591..36467485 [NCBI36] Chr13:13q12.3-13.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 |
copy number gain |
See cases [RCV000142924] |
Chr13:19671934..114340331 [GRCh38] Chr13:20246074..115085141 [GRCh37] Chr13:19144074..114123908 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh38/hg38 13q13.1-13.2(chr13:32709960-33487709)x3 |
copy number gain |
See cases [RCV000143141] |
Chr13:32709960..33487709 [GRCh38] Chr13:33284097..34061846 [GRCh37] Chr13:32182097..32959846 [NCBI36] Chr13:13q13.1-13.2 |
uncertain significance |
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 |
copy number gain |
See cases [RCV000143462] |
Chr13:18862146..114342258 [GRCh38] Chr13:19436286..115107733 [GRCh37] Chr13:18334286..114125835 [NCBI36] Chr13:13q11-34 |
pathogenic |
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 |
copy number gain |
See cases [RCV000148244] |
Chr13:31363472..90575292 [GRCh38] Chr13:31937609..91227546 [GRCh37] Chr13:30835609..90025547 [NCBI36] Chr13:13q12.3-31.3 |
pathogenic |
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 |
copy number gain |
See cases [RCV000148126] |
Chr13:19837395..114327173 [GRCh38] Chr13:20411535..115085141 [GRCh37] Chr13:19309535..114110750 [NCBI36] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 |
copy number gain |
See cases [RCV000240150] |
Chr13:19571503..115092569 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
NM_004795.4(KL):c.1155G>A (p.Lys385=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000265097]|not provided [RCV001538558] |
Chr13:33054102 [GRCh38] Chr13:33628239 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000301739]|not provided [RCV003765819] |
Chr13:33063926 [GRCh38] Chr13:33638063 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1372T>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000346654] |
Chr13:33065558 [GRCh38] Chr13:33639695 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*934T>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000285682] |
Chr13:33065120 [GRCh38] Chr13:33639257 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1286A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000303455] |
Chr13:33065472 [GRCh38] Chr13:33639609 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.*32A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000270295]|not provided [RCV004703653] |
Chr13:33064218 [GRCh38] Chr13:33638355 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.3008A>G (p.Tyr1003Cys) |
single nucleotide variant |
KL-related disorder [RCV003910161]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000271012]|not provided [RCV000905120] |
Chr13:33064155 [GRCh38] Chr13:33638292 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.320C>T (p.Ala107Val) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000288814]|not provided [RCV002056370] |
Chr13:33016760 [GRCh38] Chr13:33590898 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000352375]|not provided [RCV002522282] |
Chr13:33060859 [GRCh38] Chr13:33634996 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1894T>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000353005] |
Chr13:33066080 [GRCh38] Chr13:33640217 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.140G>A (p.Arg47Gln) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000290579]|not provided [RCV002056369] |
Chr13:33016580 [GRCh38] Chr13:33590718 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.1540C>T (p.Pro514Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000273254]|not provided [RCV001612991] |
Chr13:33055256 [GRCh38] Chr13:33629393 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.*407T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000273666] |
Chr13:33064593 [GRCh38] Chr13:33638730 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.*735G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000334750] |
Chr13:33064921 [GRCh38] Chr13:33639058 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1728A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000275734] |
Chr13:33065914 [GRCh38] Chr13:33640051 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2247T>C (p.Ala749=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000294071]|not provided [RCV001535326] |
Chr13:33061326 [GRCh38] Chr13:33635463 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000358758]|not provided [RCV003765820]|not specified [RCV004021569] |
Chr13:33064106 [GRCh38] Chr13:33638243 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2259G>A (p.Leu753=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000337438]|not provided [RCV002056376] |
Chr13:33061338 [GRCh38] Chr13:33635475 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.1767C>T (p.His589=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000295187]|not provided [RCV001653530] |
Chr13:33060846 [GRCh38] Chr13:33634983 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.967G>A (p.Val323Ile) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000261457]|not provided [RCV001850646] |
Chr13:33053914 [GRCh38] Chr13:33628051 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000298266]|not provided [RCV003765818] |
Chr13:33061651 [GRCh38] Chr13:33635788 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*722T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000282012]|not provided [RCV004703654] |
Chr13:33064908 [GRCh38] Chr13:33639045 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.911A>G (p.Asn304Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000300457]|not provided [RCV002056374] |
Chr13:33053858 [GRCh38] Chr13:33627995 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.560C>T (p.Pro187Leu) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000368027]|not provided [RCV003546514] |
Chr13:33017000 [GRCh38] Chr13:33591138 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.273T>C (p.Asp91=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000391867]|not provided [RCV001711922]|not specified [RCV000596364] |
Chr13:33016713 [GRCh38] Chr13:33590851 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1331-3C>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000322529] |
Chr13:33055044 [GRCh38] Chr13:33629181 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1054T>G (p.Phe352Val) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000323675]|not provided [RCV001653529] |
Chr13:33054001 [GRCh38] Chr13:33628138 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.*1664T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000370436] |
Chr13:33065850 [GRCh38] Chr13:33639987 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.595C>T (p.Arg199Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000395494]|not provided [RCV002056373] |
Chr13:33017035 [GRCh38] Chr13:33591173 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.1593C>T (p.Tyr531=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000325550]|not provided [RCV000957169] |
Chr13:33055309 [GRCh38] Chr13:33629446 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.191G>A (p.Gly64Asp) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000347924] |
Chr13:33016631 [GRCh38] Chr13:33590769 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1950C>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000262871] |
Chr13:33066136 [GRCh38] Chr13:33640273 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.327G>C (p.Leu109=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000350746]|not provided [RCV002056371] |
Chr13:33016767 [GRCh38] Chr13:33590905 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.*543G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000374253] |
Chr13:33064729 [GRCh38] Chr13:33638866 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.*1603C>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000274761] |
Chr13:33065789 [GRCh38] Chr13:33639926 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*8C>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000309877] |
Chr13:33064194 [GRCh38] Chr13:33638331 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*510C>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000331300] |
Chr13:33064696 [GRCh38] Chr13:33638833 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.956C>T (p.Ser319Phe) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000353972]|not provided [RCV003546515] |
Chr13:33053903 [GRCh38] Chr13:33628040 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.476A>G (p.Asn159Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000402898]|not provided [RCV001850645] |
Chr13:33016916 [GRCh38] Chr13:33591054 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.511C>A (p.Arg171Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000310974]|not provided [RCV002056372] |
Chr13:33016951 [GRCh38] Chr13:33591089 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.*1619T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000311080] |
Chr13:33065805 [GRCh38] Chr13:33639942 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000405196]|not provided [RCV001859868]|not specified [RCV004021568] |
Chr13:33061636 [GRCh38] Chr13:33635773 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1455A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000405535] |
Chr13:33065641 [GRCh38] Chr13:33639778 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1407T>C (p.Gly469=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000384055]|not provided [RCV002056375] |
Chr13:33055123 [GRCh38] Chr13:33629260 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.1109G>C (p.Cys370Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000362065]|not provided [RCV001723894] |
Chr13:33054056 [GRCh38] Chr13:33628193 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.1811C>A (p.Pro604His) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000386046] |
Chr13:33060890 [GRCh38] Chr13:33635027 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2619T>C (p.Asn873=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000341459]|not provided [RCV001690032] |
Chr13:33061698 [GRCh38] Chr13:33635835 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) |
single nucleotide variant |
KL-related disorder [RCV003957620]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000390682]|not provided [RCV001521792] |
Chr13:33061705 [GRCh38] Chr13:33635842 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.*26T>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000362208] |
Chr13:33064212 [GRCh38] Chr13:33638349 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1565T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000364704] |
Chr13:33065751 [GRCh38] Chr13:33639888 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1599+14C>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000382540] |
Chr13:33055329 [GRCh38] Chr13:33629466 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1750T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000316804] |
Chr13:33065936 [GRCh38] Chr13:33640073 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*174A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000332388] |
Chr13:33064360 [GRCh38] Chr13:33638497 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1182T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000403550] |
Chr13:33065368 [GRCh38] Chr13:33639505 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*202_*205del |
deletion |
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [RCV000389314] |
Chr13:33064386..33064389 [GRCh38] Chr13:33638523..33638526 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1509T>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000310039] |
Chr13:33065695 [GRCh38] Chr13:33639832 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*771C>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000373234] |
Chr13:33064957 [GRCh38] Chr13:33639094 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1007T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000343089] |
Chr13:33065193 [GRCh38] Chr13:33639330 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2245_2247delinsTCC (p.Ala749Ser) |
indel |
not provided [RCV000722361] |
Chr13:33061324..33061326 [GRCh38] Chr13:33635461..33635463 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) |
copy number gain |
See cases [RCV000449142] |
Chr13:19571503..115092510 [GRCh37] Chr13:13q12.11-34 |
pathogenic |
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 |
copy number loss |
See cases [RCV000446067] |
Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
See cases [RCV000445886] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.3-13.1(chr13:32178877-33860144)x0 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000443876] |
Chr13:32178877..33860144 [GRCh37] Chr13:13q12.3-13.1 |
drug response |
GRCh37/hg19 13q11-34(chr13:19436287-115107733) |
copy number gain |
See cases [RCV000510405] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q12.3-13.1(chr13:31682663-33765790)x1 |
copy number loss |
See cases [RCV000511780] |
Chr13:31682663..33765790 [GRCh37] Chr13:13q12.3-13.1 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 |
copy number gain |
See cases [RCV000511880] |
Chr13:19436287..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.1375T>A (p.Ser459Thr) |
single nucleotide variant |
not specified [RCV004309879] |
Chr13:33055091 [GRCh38] Chr13:33629228 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1241A>G (p.Glu414Gly) |
single nucleotide variant |
not specified [RCV004298824] |
Chr13:33054188 [GRCh38] Chr13:33628325 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] |
Chr13:24080918..34361992 [GRCh37] Chr13:13q12.12-13.2 |
drug response |
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 |
copy number gain |
not provided [RCV000683572] |
Chr13:19436286..74045459 [GRCh37] Chr13:13q11-22.1 |
pathogenic |
NM_004795.4(KL):c.234del (p.Gly79fs) |
deletion |
not provided [RCV001964107] |
Chr13:33016674 [GRCh38] Chr13:33590812 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 |
copy number gain |
not provided [RCV000738115] |
Chr13:19058717..115103529 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 |
copy number gain |
not provided [RCV000750643] |
Chr13:19031237..115107157 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.1966G>A (p.Ala656Thr) |
single nucleotide variant |
not specified [RCV004293517] |
Chr13:33061045 [GRCh38] Chr13:33635182 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2226C>T (p.Ser742=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114536] |
Chr13:33061305 [GRCh38] Chr13:33635442 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1766T>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114741] |
Chr13:33065952 [GRCh38] Chr13:33640089 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.614G>A (p.Gly205Asp) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114442]|not provided [RCV002069844] |
Chr13:33017054 [GRCh38] Chr13:33591192 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2702-1G>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV000778393]|not provided [RCV003768425] |
Chr13:33063848 [GRCh38] Chr13:33637985 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.369C>T (p.Asp123=) |
single nucleotide variant |
not provided [RCV000901328] |
Chr13:33016809 [GRCh38] Chr13:33590947 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.607G>T (p.Ala203Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114440]|not provided [RCV000881530] |
Chr13:33017047 [GRCh38] Chr13:33591185 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.*203G>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114632] |
Chr13:33064389 [GRCh38] Chr13:33638526 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1870G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114742] |
Chr13:33066056 [GRCh38] Chr13:33640193 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.747C>T (p.Ala249=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114444]|not provided [RCV003574829] |
Chr13:33017187 [GRCh38] Chr13:33591325 [GRCh37] Chr13:13q13.1 |
benign|uncertain significance |
NM_004795.4(KL):c.1860C>A (p.Arg620=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114533]|not provided [RCV002069845] |
Chr13:33060939 [GRCh38] Chr13:33635076 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114535]|not provided [RCV002556243] |
Chr13:33061024 [GRCh38] Chr13:33635161 [GRCh37] Chr13:13q13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004795.4(KL):c.*93A>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114631] |
Chr13:33064279 [GRCh38] Chr13:33638416 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV000849129] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.*218G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114633] |
Chr13:33064404 [GRCh38] Chr13:33638541 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2702-59dup |
duplication |
Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000989099]|not provided [RCV001683709] |
Chr13:33063776..33063777 [GRCh38] Chr13:33637913..33637914 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.450C>A (p.Ser150=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113059]|not provided [RCV003736981] |
Chr13:33016890 [GRCh38] Chr13:33591028 [GRCh37] Chr13:13q13.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004795.4(KL):c.1419G>A (p.Arg473=) |
single nucleotide variant |
KL-related disorder [RCV003963055]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113165]|not provided [RCV002069825] |
Chr13:33055135 [GRCh38] Chr13:33629272 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.1718T>C (p.Val573Ala) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113168] |
Chr13:33060797 [GRCh38] Chr13:33634934 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2874T>G (p.Thr958=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113262]|not provided [RCV003117761] |
Chr13:33064021 [GRCh38] Chr13:33638158 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.2904C>T (p.Thr968=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113263]|not provided [RCV002069827] |
Chr13:33064051 [GRCh38] Chr13:33638188 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.*1486T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113365] |
Chr13:33065672 [GRCh38] Chr13:33639809 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2057C>T (p.Thr686Met) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002479169]|not provided [RCV000995063]|not specified [RCV004030188] |
Chr13:33061136 [GRCh38] Chr13:33635273 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1014C>A (p.Pro338=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110412] |
Chr13:33053961 [GRCh38] Chr13:33628098 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2296G>A (p.Gly766Ser) |
single nucleotide variant |
KL-related disorder [RCV003906208]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110491]|not provided [RCV001355482] |
Chr13:33061375 [GRCh38] Chr13:33635512 [GRCh37] Chr13:13q13.1 |
benign|likely benign|uncertain significance |
NM_004795.4(KL):c.2532G>A (p.Gln844=) |
single nucleotide variant |
KL-related disorder [RCV003953482]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110495]|not provided [RCV002067804] |
Chr13:33061611 [GRCh38] Chr13:33635748 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.974G>T (p.Gly325Val) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110411] |
Chr13:33053921 [GRCh38] Chr13:33628058 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.326T>G (p.Leu109Arg) |
single nucleotide variant |
KL-related disorder [RCV003973078]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111070]|not provided [RCV002069791] |
Chr13:33016766 [GRCh38] Chr13:33590904 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1105C>G (p.Leu369Val) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111156]|not provided [RCV002556172]|not specified [RCV004032161] |
Chr13:33054052 [GRCh38] Chr13:33628189 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1188A>G (p.Gln396=) |
single nucleotide variant |
KL-related disorder [RCV003938459]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111157]|not provided [RCV002069794] |
Chr13:33054135 [GRCh38] Chr13:33628272 [GRCh37] Chr13:13q13.1 |
benign|likely benign|uncertain significance |
NM_004795.4(KL):c.2688C>T (p.Asn896=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111257]|not provided [RCV002069795] |
Chr13:33061767 [GRCh38] Chr13:33635904 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.*793G>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109002] |
Chr13:33064979 [GRCh38] Chr13:33639116 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1599+205C>T |
single nucleotide variant |
not provided [RCV001534907] |
Chr13:33055520 [GRCh38] Chr13:33629657 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114441] |
Chr13:33017051 [GRCh38] Chr13:33591189 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.656A>T (p.Tyr219Phe) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114443] |
Chr13:33017096 [GRCh38] Chr13:33591234 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113058] |
Chr13:33016882 [GRCh38] Chr13:33591020 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113166]|not provided [RCV002555094] |
Chr13:33055273 [GRCh38] Chr13:33629410 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2702-182C>T |
single nucleotide variant |
not provided [RCV001638772] |
Chr13:33063667 [GRCh38] Chr13:33637804 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2701+22T>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001730863]|not provided [RCV001598393] |
Chr13:33061802 [GRCh38] Chr13:33635939 [GRCh37] Chr13:13q13.1 |
benign |
NC_000013.11:g.33016276G>A |
single nucleotide variant |
not provided [RCV001618090] |
Chr13:33016276 [GRCh38] Chr13:33590414 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1331-195A>G |
single nucleotide variant |
not provided [RCV001621434] |
Chr13:33054852 [GRCh38] Chr13:33628989 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.*810G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111349] |
Chr13:33064996 [GRCh38] Chr13:33639133 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*853T>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111350] |
Chr13:33065039 [GRCh38] Chr13:33639176 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1324A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111351] |
Chr13:33065510 [GRCh38] Chr13:33639647 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*1347C>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111352]|not provided [RCV004706009] |
Chr13:33065533 [GRCh38] Chr13:33639670 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.*466A>T |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109000] |
Chr13:33064652 [GRCh38] Chr13:33638789 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*587G>C |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001109001] |
Chr13:33064773 [GRCh38] Chr13:33638910 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.426C>G (p.Leu142=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113057] |
Chr13:33016866 [GRCh38] Chr13:33591004 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.15C>T (p.Ala5=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110326]|not provided [RCV002067802] |
Chr13:33016455 [GRCh38] Chr13:33590593 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.764C>T (p.Pro255Leu) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110409] |
Chr13:33017204 [GRCh38] Chr13:33591342 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110410] |
Chr13:33017242 [GRCh38] Chr13:33591380 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110492]|not provided [RCV001856473] |
Chr13:33061375 [GRCh38] Chr13:33635512 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2298C>G (p.Gly766=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110493]|not provided [RCV002069784] |
Chr13:33061377 [GRCh38] Chr13:33635514 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001110494] |
Chr13:33061379 [GRCh38] Chr13:33635516 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.87C>T (p.Arg29=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111068]|not provided [RCV002069790] |
Chr13:33016527 [GRCh38] Chr13:33590665 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.91C>T (p.Leu31=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111069]|not provided [RCV002067808] |
Chr13:33016531 [GRCh38] Chr13:33590669 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1331-4G>A |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111158] |
Chr13:33055043 [GRCh38] Chr13:33629180 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1374G>C (p.Trp458Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111159] |
Chr13:33055090 [GRCh38] Chr13:33629227 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001111256]|not provided [RCV001856479]|not specified [RCV004032162] |
Chr13:33061650 [GRCh38] Chr13:33635787 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1330+143T>G |
single nucleotide variant |
not provided [RCV001693290] |
Chr13:33054420 [GRCh38] Chr13:33628557 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.820-79C>T |
single nucleotide variant |
not provided [RCV001609847] |
Chr13:33053688 [GRCh38] Chr13:33627825 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.820-75T>G |
single nucleotide variant |
not provided [RCV001684838] |
Chr13:33053692 [GRCh38] Chr13:33627829 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.820-236C>T |
single nucleotide variant |
not provided [RCV001692736] |
Chr13:33053531 [GRCh38] Chr13:33627668 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2702-110T>C |
single nucleotide variant |
not provided [RCV001666400] |
Chr13:33063739 [GRCh38] Chr13:33637876 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.820-211G>A |
single nucleotide variant |
not provided [RCV001707059] |
Chr13:33053556 [GRCh38] Chr13:33627693 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1626C>T (p.Thr542=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113167]|not provided [RCV002069826] |
Chr13:33060705 [GRCh38] Chr13:33634842 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.*17A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113265] |
Chr13:33064203 [GRCh38] Chr13:33638340 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.535C>T (p.Arg179Trp) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114439]|not specified [RCV004032185] |
Chr13:33016975 [GRCh38] Chr13:33591113 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1848G>A (p.Leu616=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114531] |
Chr13:33060927 [GRCh38] Chr13:33635064 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.393C>A (p.Asn131Lys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113056]|not provided [RCV002069824] |
Chr13:33016833 [GRCh38] Chr13:33590971 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001113264]|not provided [RCV001862888] |
Chr13:33064142 [GRCh38] Chr13:33638279 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114532]|not provided [RCV001856506]|not specified [RCV004032186] |
Chr13:33060937 [GRCh38] Chr13:33635074 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114534]|not provided [RCV002069846] |
Chr13:33060952 [GRCh38] Chr13:33635089 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.*263A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114634] |
Chr13:33064449 [GRCh38] Chr13:33638586 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.*380A>G |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV001114635] |
Chr13:33064566 [GRCh38] Chr13:33638703 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q12.3-13.2(chr13:28925153-34061696)x1 |
copy number loss |
not provided [RCV001537908] |
Chr13:28925153..34061696 [GRCh37] Chr13:13q12.3-13.2 |
pathogenic |
NM_004795.4(KL):c.820-46C>G |
single nucleotide variant |
not provided [RCV001539287] |
Chr13:33053721 [GRCh38] Chr13:33627858 [GRCh37] Chr13:13q13.1 |
benign |
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 |
copy number gain |
See cases [RCV001353184] |
Chr13:19053605..115108528 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.370G>A (p.Val124Ile) |
single nucleotide variant |
not provided [RCV001358517] |
Chr13:33016810 [GRCh38] Chr13:33590948 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1756C>T (p.Gln586Ter) |
single nucleotide variant |
not provided [RCV003100355] |
Chr13:33060835 [GRCh38] Chr13:33634972 [GRCh37] Chr13:13q13.1 |
pathogenic|uncertain significance |
NM_004795.4(KL):c.820-144A>G |
single nucleotide variant |
not provided [RCV001617673] |
Chr13:33053623 [GRCh38] Chr13:33627760 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1331-39G>A |
single nucleotide variant |
not provided [RCV001680734] |
Chr13:33055008 [GRCh38] Chr13:33629145 [GRCh37] Chr13:13q13.1 |
benign |
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 |
copy number gain |
See cases [RCV001780076] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
GRCh37/hg19 13p13-q34(chr13:1-115169878) |
copy number gain |
Complete trisomy 13 syndrome [RCV002280659] |
Chr13:1..115169878 [GRCh37] Chr13:13p13-q34 |
pathogenic |
NM_004795.4(KL):c.1594A>G (p.Ile532Val) |
single nucleotide variant |
not provided [RCV002044032] |
Chr13:33055310 [GRCh38] Chr13:33629447 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.304G>C (p.Gly102Arg) |
single nucleotide variant |
not provided [RCV001892480] |
Chr13:33016744 [GRCh38] Chr13:33590882 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2534T>G (p.Val845Gly) |
single nucleotide variant |
Amenorrhea [RCV001849760] |
Chr13:33061613 [GRCh38] Chr13:33635750 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2786G>A (p.Arg929His) |
single nucleotide variant |
not provided [RCV001948980]|not specified [RCV004043032] |
Chr13:33063933 [GRCh38] Chr13:33638070 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002491945]|not provided [RCV001929297]|not specified [RCV004044308] |
Chr13:33061148 [GRCh38] Chr13:33635285 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1987G>A (p.Ala663Thr) |
single nucleotide variant |
not provided [RCV001984135]|not specified [RCV004045398] |
Chr13:33061066 [GRCh38] Chr13:33635203 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1725T>G (p.Phe575Leu) |
single nucleotide variant |
not provided [RCV002005267] |
Chr13:33060804 [GRCh38] Chr13:33634941 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
not provided [RCV002009020] |
Chr13:33016951 [GRCh38] Chr13:33591089 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.782C>T (p.Pro261Leu) |
single nucleotide variant |
not provided [RCV002021872]|not specified [RCV004043976] |
Chr13:33017222 [GRCh38] Chr13:33591360 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.536G>A (p.Arg179Gln) |
single nucleotide variant |
not provided [RCV002039768] |
Chr13:33016976 [GRCh38] Chr13:33591114 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19436286-114981726) |
copy number gain |
not specified [RCV002053035] |
Chr13:19436286..114981726 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.1690G>A (p.Val564Met) |
single nucleotide variant |
not provided [RCV001967780] |
Chr13:33060769 [GRCh38] Chr13:33634906 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) |
copy number loss |
not specified [RCV002053048] |
Chr13:32946120..62698217 [GRCh37] Chr13:13q13.1-21.31 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733) |
copy number gain |
not specified [RCV002053036] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 |
copy number gain |
not provided [RCV001834436] |
Chr13:19436286..115107733 [GRCh37] Chr13:13q11-34 |
pathogenic |
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) |
single nucleotide variant |
Amenorrhea [RCV001849759]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002506865]|not specified [RCV004038702] |
Chr13:33061330 [GRCh38] Chr13:33635467 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1764G>T (p.Met588Ile) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002484453]|not provided [RCV001913861] |
Chr13:33060843 [GRCh38] Chr13:33634980 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002497989]|not provided [RCV001986842]|not specified [RCV004045425] |
Chr13:33061592 [GRCh38] Chr13:33635729 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1393G>A (p.Glu465Lys) |
single nucleotide variant |
not provided [RCV002006709] |
Chr13:33055109 [GRCh38] Chr13:33629246 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.684C>A (p.Gly228=) |
single nucleotide variant |
not provided [RCV001968514] |
Chr13:33017124 [GRCh38] Chr13:33591262 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.257G>A (p.Gly86Asp) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002492033]|not provided [RCV001936627] |
Chr13:33016697 [GRCh38] Chr13:33590835 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.316A>C (p.Asn106His) |
single nucleotide variant |
not provided [RCV001940207] |
Chr13:33016756 [GRCh38] Chr13:33590894 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1331-9C>A |
single nucleotide variant |
not provided [RCV002001376] |
Chr13:33055038 [GRCh38] Chr13:33629175 [GRCh37] Chr13:13q13.1 |
likely benign|uncertain significance |
NM_004795.4(KL):c.1872C>T (p.Ser624=) |
single nucleotide variant |
not provided [RCV001943377] |
Chr13:33060951 [GRCh38] Chr13:33635088 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.927C>T (p.Thr309=) |
single nucleotide variant |
not provided [RCV002037906] |
Chr13:33053874 [GRCh38] Chr13:33628011 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1805_1835del (p.Ile602fs) |
deletion |
not provided [RCV002017459] |
Chr13:33060883..33060913 [GRCh38] Chr13:33635020..33635050 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.254A>G (p.Lys85Arg) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002489909]|not provided [RCV002037485] |
Chr13:33016694 [GRCh38] Chr13:33590832 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002482545]|not provided [RCV001962305] |
Chr13:33016838 [GRCh38] Chr13:33590976 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1373G>A (p.Trp458Ter) |
single nucleotide variant |
not provided [RCV001932180] |
Chr13:33055089 [GRCh38] Chr13:33629226 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.379G>A (p.Asp127Asn) |
single nucleotide variant |
not provided [RCV001906553] |
Chr13:33016819 [GRCh38] Chr13:33590957 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.4C>T (p.Pro2Ser) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002492251]|not provided [RCV002030484] |
Chr13:33016444 [GRCh38] Chr13:33590582 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2245G>T (p.Ala749Ser) |
single nucleotide variant |
not provided [RCV001867377] |
Chr13:33061324 [GRCh38] Chr13:33635461 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.806A>G (p.His269Arg) |
single nucleotide variant |
not provided [RCV001879124] |
Chr13:33017246 [GRCh38] Chr13:33591384 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.944A>G (p.Glu315Gly) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002479416]|not provided [RCV001951927] |
Chr13:33053891 [GRCh38] Chr13:33628028 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.644A>G (p.His215Arg) |
single nucleotide variant |
not provided [RCV002050921] |
Chr13:33017084 [GRCh38] Chr13:33591222 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.58C>G (p.Leu20Val) |
single nucleotide variant |
not provided [RCV001933216] |
Chr13:33016498 [GRCh38] Chr13:33590636 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.721dup (p.Tyr241fs) |
duplication |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002479738]|not provided [RCV002011147] |
Chr13:33017160..33017161 [GRCh38] Chr13:33591298..33591299 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) |
microsatellite |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002489999]|not provided [RCV001931859] |
Chr13:33055176..33055178 [GRCh38] Chr13:33629313..33629315 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2502C>T (p.Thr834=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002503387]|not provided [RCV001867061] |
Chr13:33061581 [GRCh38] Chr13:33635718 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2758C>T (p.Arg920Cys) |
single nucleotide variant |
not provided [RCV002026778]|not specified [RCV004046868] |
Chr13:33063905 [GRCh38] Chr13:33638042 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1008_1015dup (p.Glu339fs) |
duplication |
not provided [RCV001976784] |
Chr13:33053954..33053955 [GRCh38] Chr13:33628091..33628092 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.859C>A (p.Arg287Ser) |
single nucleotide variant |
not provided [RCV002033775] |
Chr13:33053806 [GRCh38] Chr13:33627943 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.544G>T (p.Glu182Ter) |
single nucleotide variant |
not provided [RCV002015546] |
Chr13:33016984 [GRCh38] Chr13:33591122 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.46TCGCTG[3] (p.16SL[3]) |
microsatellite |
not provided [RCV001992744] |
Chr13:33016484..33016485 [GRCh38] Chr13:33590622..33590623 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.550G>A (p.Gly184Ser) |
single nucleotide variant |
not provided [RCV002017335] |
Chr13:33016990 [GRCh38] Chr13:33591128 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
not provided [RCV001923748] |
Chr13:33016447 [GRCh38] Chr13:33590585 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2702-3C>T |
single nucleotide variant |
not provided [RCV001923252] |
Chr13:33063846 [GRCh38] Chr13:33637983 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.149C>T (p.Ala50Val) |
single nucleotide variant |
not provided [RCV001996875] |
Chr13:33016589 [GRCh38] Chr13:33590727 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002482804]|not provided [RCV001925421] |
Chr13:33060961 [GRCh38] Chr13:33635098 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.638C>A (p.Ala213Asp) |
single nucleotide variant |
not provided [RCV001901664] |
Chr13:33017078 [GRCh38] Chr13:33591216 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.738C>T (p.His246=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002494247]|not provided [RCV002126990] |
Chr13:33017178 [GRCh38] Chr13:33591316 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.807C>G (p.His269Gln) |
single nucleotide variant |
KL-related disorder [RCV003951080]|not provided [RCV002127002] |
Chr13:33017247 [GRCh38] Chr13:33591385 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.819+17A>G |
single nucleotide variant |
not provided [RCV002091830] |
Chr13:33017276 [GRCh38] Chr13:33591414 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.639C>G (p.Ala213=) |
single nucleotide variant |
not provided [RCV002087695] |
Chr13:33017079 [GRCh38] Chr13:33591217 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.225G>A (p.Gln75=) |
single nucleotide variant |
not provided [RCV002071597] |
Chr13:33016665 [GRCh38] Chr13:33590803 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2811C>T (p.Pro937=) |
single nucleotide variant |
KL-related disorder [RCV003895989]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002500330]|not provided [RCV002146630] |
Chr13:33063958 [GRCh38] Chr13:33638095 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.585C>T (p.Asp195=) |
single nucleotide variant |
not provided [RCV002173479] |
Chr13:33017025 [GRCh38] Chr13:33591163 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.813C>T (p.Leu271=) |
single nucleotide variant |
not provided [RCV002169346] |
Chr13:33017253 [GRCh38] Chr13:33591391 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1158C>T (p.Phe386=) |
single nucleotide variant |
not provided [RCV002195745] |
Chr13:33054105 [GRCh38] Chr13:33628242 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1371A>C (p.Ala457=) |
single nucleotide variant |
KL-related disorder [RCV003951098]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002500022]|not provided [RCV002115776] |
Chr13:33055087 [GRCh38] Chr13:33629224 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.2859C>T (p.Phe953=) |
single nucleotide variant |
not provided [RCV002196068] |
Chr13:33064006 [GRCh38] Chr13:33638143 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2682C>T (p.Tyr894=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002494349]|not provided [RCV002094103] |
Chr13:33061761 [GRCh38] Chr13:33635898 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2040C>T (p.His680=) |
single nucleotide variant |
not provided [RCV002171175] |
Chr13:33061119 [GRCh38] Chr13:33635256 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1599+16A>C |
single nucleotide variant |
not provided [RCV002134494] |
Chr13:33055331 [GRCh38] Chr13:33629468 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1965C>T (p.Gly655=) |
single nucleotide variant |
not provided [RCV002124441] |
Chr13:33061044 [GRCh38] Chr13:33635181 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.2589C>T (p.Tyr863=) |
single nucleotide variant |
not provided [RCV002076562] |
Chr13:33061668 [GRCh38] Chr13:33635805 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.537G>C (p.Arg179=) |
single nucleotide variant |
KL-related disorder [RCV003958545]|Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002498190]|not provided [RCV002188060] |
Chr13:33016977 [GRCh38] Chr13:33591115 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.1788C>A (p.Ser596=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002494414]|not provided [RCV002121648] |
Chr13:33060867 [GRCh38] Chr13:33635004 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.819+14G>T |
single nucleotide variant |
not provided [RCV002137937] |
Chr13:33017273 [GRCh38] Chr13:33591411 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1005T>C (p.Gly335=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002494116]|not provided [RCV002220507] |
Chr13:33053952 [GRCh38] Chr13:33628089 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.820-18T>C |
single nucleotide variant |
not provided [RCV002121371] |
Chr13:33053749 [GRCh38] Chr13:33627886 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1160G>A (p.Arg387His) |
single nucleotide variant |
not provided [RCV002200440] |
Chr13:33054107 [GRCh38] Chr13:33628244 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.292C>T (p.Leu98=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002505879]|not provided [RCV002204515] |
Chr13:33016732 [GRCh38] Chr13:33590870 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.486G>A (p.Ala162=) |
single nucleotide variant |
Tumoral calcinosis, hyperphosphatemic, familial, 3 [RCV002494025]|not provided [RCV002157050] |
Chr13:33016926 [GRCh38] Chr13:33591064 [GRCh37] Chr13:13q13.1 |
benign|likely benign |
NM_004795.4(KL):c.2031C>T (p.Leu677=) |
single nucleotide variant |
not provided [RCV002184384] |
Chr13:33061110 [GRCh38] Chr13:33635247 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1734C>A (p.Ile578=) |
single nucleotide variant |
not provided [RCV003110679] |
Chr13:33060813 [GRCh38] Chr13:33634950 [GRCh37] Chr13:13q13.1 |
likely benign |
NC_000013.10:g.(?_31033232)_(33638323_?)dup |
duplication |
not provided [RCV003113598] |
Chr13:31033232..33638323 [GRCh37] Chr13:13q12.3-13.1 |
uncertain significance |
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 |
copy number gain |
not provided [RCV002291540] |
Chr13:19253848..115108937 [GRCh37] Chr13:13q11-34 |
pathogenic |
GRCh37/hg19 13q13.1-13.2(chr13:33504270-34507428)x4 |
copy number gain |
not provided [RCV002474608] |
Chr13:33504270..34507428 [GRCh37] Chr13:13q13.1-13.2 |
uncertain significance |
NM_004795.4(KL):c.2131T>C (p.Trp711Arg) |
single nucleotide variant |
not provided [RCV002295247] |
Chr13:33061210 [GRCh38] Chr13:33635347 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.3020G>A (p.Gly1007Asp) |
single nucleotide variant |
not provided [RCV002302261] |
Chr13:33064167 [GRCh38] Chr13:33638304 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.161C>T (p.Ala54Val) |
single nucleotide variant |
not provided [RCV002303064] |
Chr13:33016601 [GRCh38] Chr13:33590739 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.860G>A (p.Arg287His) |
single nucleotide variant |
not specified [RCV004204356] |
Chr13:33053807 [GRCh38] Chr13:33627944 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2422C>T (p.His808Tyr) |
single nucleotide variant |
not specified [RCV004130484] |
Chr13:33061501 [GRCh38] Chr13:33635638 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2822T>C (p.Met941Thr) |
single nucleotide variant |
not provided [RCV002681542] |
Chr13:33063969 [GRCh38] Chr13:33638106 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2775T>C (p.Phe925=) |
single nucleotide variant |
not provided [RCV003032295] |
Chr13:33063922 [GRCh38] Chr13:33638059 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.124T>C (p.Trp42Arg) |
single nucleotide variant |
not specified [RCV004237154] |
Chr13:33016564 [GRCh38] Chr13:33590702 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.34CCG[5] (p.Pro15_Ser16insPro) |
microsatellite |
not provided [RCV002751269] |
Chr13:33016472..33016473 [GRCh38] Chr13:33590610..33590611 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2438T>C (p.Leu813Pro) |
single nucleotide variant |
not provided [RCV003015514] |
Chr13:33061517 [GRCh38] Chr13:33635654 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2219C>T (p.Pro740Leu) |
single nucleotide variant |
not provided [RCV002975146] |
Chr13:33061298 [GRCh38] Chr13:33635435 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2742T>G (p.Ala914=) |
single nucleotide variant |
not provided [RCV003095524] |
Chr13:33063889 [GRCh38] Chr13:33638026 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.265A>C (p.Ile89Leu) |
single nucleotide variant |
not specified [RCV004175104] |
Chr13:33016705 [GRCh38] Chr13:33590843 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NC_000013.11:g.33016362_33016466del |
deletion |
not provided [RCV002947320] |
Chr13:33016355..33016459 [GRCh38] Chr13:33590493..33590597 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2936G>A (p.Arg979Gln) |
single nucleotide variant |
not specified [RCV004115273] |
Chr13:33064083 [GRCh38] Chr13:33638220 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.709A>G (p.Ile237Val) |
single nucleotide variant |
not provided [RCV002617642] |
Chr13:33017149 [GRCh38] Chr13:33591287 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.466G>C (p.Val156Leu) |
single nucleotide variant |
not provided [RCV002970908] |
Chr13:33016906 [GRCh38] Chr13:33591044 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1600-10C>T |
single nucleotide variant |
not provided [RCV002991393] |
Chr13:33060669 [GRCh38] Chr13:33634806 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2276G>A (p.Trp759Ter) |
single nucleotide variant |
not provided [RCV002755413] |
Chr13:33061355 [GRCh38] Chr13:33635492 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.250G>T (p.Gly84Cys) |
single nucleotide variant |
not provided [RCV002614249] |
Chr13:33016690 [GRCh38] Chr13:33590828 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.891C>T (p.Ala297=) |
single nucleotide variant |
not provided [RCV002816027] |
Chr13:33053838 [GRCh38] Chr13:33627975 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.267C>A (p.Ile89=) |
single nucleotide variant |
not provided [RCV002881083] |
Chr13:33016707 [GRCh38] Chr13:33590845 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.695A>T (p.Lys232Met) |
single nucleotide variant |
not provided [RCV002994450] |
Chr13:33017135 [GRCh38] Chr13:33591273 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2824A>C (p.Lys942Gln) |
single nucleotide variant |
not provided [RCV003575019]|not specified [RCV004202761] |
Chr13:33063971 [GRCh38] Chr13:33638108 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1873G>C (p.Glu625Gln) |
single nucleotide variant |
not provided [RCV003720715]|not specified [RCV004200415] |
Chr13:33060952 [GRCh38] Chr13:33635089 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1356C>T (p.Val452=) |
single nucleotide variant |
not provided [RCV002622987] |
Chr13:33055072 [GRCh38] Chr13:33629209 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1740C>G (p.Pro580=) |
single nucleotide variant |
not provided [RCV002928164] |
Chr13:33060819 [GRCh38] Chr13:33634956 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2647G>C (p.Asp883His) |
single nucleotide variant |
not provided [RCV003055664] |
Chr13:33061726 [GRCh38] Chr13:33635863 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.80G>A (p.Gly27Asp) |
single nucleotide variant |
not specified [RCV004163886] |
Chr13:33016520 [GRCh38] Chr13:33590658 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1918C>T (p.Pro640Ser) |
single nucleotide variant |
not provided [RCV002592939] |
Chr13:33060997 [GRCh38] Chr13:33635134 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1730C>G (p.Ala577Gly) |
single nucleotide variant |
not provided [RCV003054419] |
Chr13:33060809 [GRCh38] Chr13:33634946 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2639A>G (p.His880Arg) |
single nucleotide variant |
not provided [RCV002999180]|not specified [RCV004642099] |
Chr13:33061718 [GRCh38] Chr13:33635855 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.143C>G (p.Pro48Arg) |
single nucleotide variant |
not specified [RCV004172283] |
Chr13:33016583 [GRCh38] Chr13:33590721 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2262A>G (p.Glu754=) |
single nucleotide variant |
not provided [RCV002637235] |
Chr13:33061341 [GRCh38] Chr13:33635478 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.282C>A (p.Thr94=) |
single nucleotide variant |
not provided [RCV002735192] |
Chr13:33016722 [GRCh38] Chr13:33590860 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.889G>A (p.Ala297Thr) |
single nucleotide variant |
not specified [RCV004171572] |
Chr13:33053836 [GRCh38] Chr13:33627973 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.155A>C (p.Glu52Ala) |
single nucleotide variant |
not specified [RCV004096976] |
Chr13:33016595 [GRCh38] Chr13:33590733 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2861C>T (p.Pro954Leu) |
single nucleotide variant |
not provided [RCV002979524] |
Chr13:33064008 [GRCh38] Chr13:33638145 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2593G>C (p.Asp865His) |
single nucleotide variant |
not provided [RCV002913557]|not specified [RCV004066181] |
Chr13:33061672 [GRCh38] Chr13:33635809 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.12C>T (p.Ser4=) |
single nucleotide variant |
not provided [RCV002785611] |
Chr13:33016452 [GRCh38] Chr13:33590590 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1150A>G (p.Met384Val) |
single nucleotide variant |
not provided [RCV002639238] |
Chr13:33054097 [GRCh38] Chr13:33628234 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2072A>G (p.Tyr691Cys) |
single nucleotide variant |
not specified [RCV004147857] |
Chr13:33061151 [GRCh38] Chr13:33635288 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.348G>T (p.Pro116=) |
single nucleotide variant |
not provided [RCV002622309] |
Chr13:33016788 [GRCh38] Chr13:33590926 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2649C>T (p.Asp883=) |
single nucleotide variant |
not provided [RCV002785612] |
Chr13:33061728 [GRCh38] Chr13:33635865 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2690A>G (p.Glu897Gly) |
single nucleotide variant |
not provided [RCV002590486] |
Chr13:33061769 [GRCh38] Chr13:33635906 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.514T>C (p.Tyr172His) |
single nucleotide variant |
not provided [RCV002691162] |
Chr13:33016954 [GRCh38] Chr13:33591092 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1359C>T (p.Ile453=) |
single nucleotide variant |
not provided [RCV003002270] |
Chr13:33055075 [GRCh38] Chr13:33629212 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1726G>A (p.Ala576Thr) |
single nucleotide variant |
not provided [RCV002591303] |
Chr13:33060805 [GRCh38] Chr13:33634942 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2047C>A (p.Leu683Ile) |
single nucleotide variant |
not provided [RCV003778569]|not specified [RCV004219928] |
Chr13:33061126 [GRCh38] Chr13:33635263 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1807C>G (p.Leu603Val) |
single nucleotide variant |
not provided [RCV002933206]|not specified [RCV004067066] |
Chr13:33060886 [GRCh38] Chr13:33635023 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.755G>A (p.Arg252His) |
single nucleotide variant |
not provided [RCV002627195] |
Chr13:33017195 [GRCh38] Chr13:33591333 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1660A>G (p.Ser554Gly) |
single nucleotide variant |
not provided [RCV003777786]|not specified [RCV004127459] |
Chr13:33060739 [GRCh38] Chr13:33634876 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.542G>A (p.Arg181Gln) |
single nucleotide variant |
not provided [RCV003005390] |
Chr13:33016982 [GRCh38] Chr13:33591120 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1812T>G (p.Pro604=) |
single nucleotide variant |
not provided [RCV003026226] |
Chr13:33060891 [GRCh38] Chr13:33635028 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1723T>A (p.Phe575Ile) |
single nucleotide variant |
not specified [RCV004099284] |
Chr13:33060802 [GRCh38] Chr13:33634939 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1738C>T (p.Pro580Ser) |
single nucleotide variant |
not provided [RCV002918106] |
Chr13:33060817 [GRCh38] Chr13:33634954 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1177A>G (p.Asn393Asp) |
single nucleotide variant |
not provided [RCV002626003] |
Chr13:33054124 [GRCh38] Chr13:33628261 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1151T>C (p.Met384Thr) |
single nucleotide variant |
not provided [RCV002958780]|not specified [RCV004068198] |
Chr13:33054098 [GRCh38] Chr13:33628235 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1706A>T (p.Lys569Ile) |
single nucleotide variant |
not provided [RCV002894846] |
Chr13:33060785 [GRCh38] Chr13:33634922 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1331-18C>T |
single nucleotide variant |
not provided [RCV002574843] |
Chr13:33055029 [GRCh38] Chr13:33629166 [GRCh37] Chr13:13q13.1 |
likely benign |
GRCh37/hg19 13q12.3-13.3(chr13:31841196-36667007)x3 |
copy number gain |
not provided [RCV002508995] |
Chr13:31841196..36667007 [GRCh37] Chr13:13q12.3-13.3 |
not provided |
NM_004795.4(KL):c.1331-4_1331-3delinsAA |
indel |
not provided [RCV002623615] |
Chr13:33055043..33055044 [GRCh38] Chr13:33629180..33629181 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1191G>T (p.Leu397=) |
single nucleotide variant |
not provided [RCV002643154] |
Chr13:33054138 [GRCh38] Chr13:33628275 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2701+18C>T |
single nucleotide variant |
not provided [RCV002597112] |
Chr13:33061798 [GRCh38] Chr13:33635935 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.290C>A (p.Pro97His) |
single nucleotide variant |
not specified [RCV004125126] |
Chr13:33016730 [GRCh38] Chr13:33590868 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2625C>T (p.Ile875=) |
single nucleotide variant |
not provided [RCV002572252] |
Chr13:33061704 [GRCh38] Chr13:33635841 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.990C>T (p.Pro330=) |
single nucleotide variant |
not provided [RCV003082061] |
Chr13:33053937 [GRCh38] Chr13:33628074 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2007T>C (p.Tyr669=) |
single nucleotide variant |
not provided [RCV003082570] |
Chr13:33061086 [GRCh38] Chr13:33635223 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2632G>A (p.Gly878Arg) |
single nucleotide variant |
not provided [RCV002626543] |
Chr13:33061711 [GRCh38] Chr13:33635848 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2385G>A (p.Lys795=) |
single nucleotide variant |
not provided [RCV002853154] |
Chr13:33061464 [GRCh38] Chr13:33635601 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1944G>A (p.Pro648=) |
single nucleotide variant |
not provided [RCV002626422] |
Chr13:33061023 [GRCh38] Chr13:33635160 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2578A>G (p.Lys860Glu) |
single nucleotide variant |
not specified [RCV004194141] |
Chr13:33061657 [GRCh38] Chr13:33635794 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.403G>T (p.Asp135Tyr) |
single nucleotide variant |
not provided [RCV002646165] |
Chr13:33016843 [GRCh38] Chr13:33590981 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.819+8C>G |
single nucleotide variant |
not provided [RCV002581319] |
Chr13:33017267 [GRCh38] Chr13:33591405 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1933C>G (p.Gln645Glu) |
single nucleotide variant |
not provided [RCV003049357] |
Chr13:33061012 [GRCh38] Chr13:33635149 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2631C>T (p.Asp877=) |
single nucleotide variant |
not provided [RCV002632600] |
Chr13:33061710 [GRCh38] Chr13:33635847 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2089T>A (p.Tyr697Asn) |
single nucleotide variant |
not provided [RCV002966992] |
Chr13:33061168 [GRCh38] Chr13:33635305 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.137C>T (p.Ser46Leu) |
single nucleotide variant |
not specified [RCV004165786] |
Chr13:33016577 [GRCh38] Chr13:33590715 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.906G>A (p.Trp302Ter) |
single nucleotide variant |
not provided [RCV002646120] |
Chr13:33053853 [GRCh38] Chr13:33627990 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.993A>G (p.Val331=) |
single nucleotide variant |
not provided [RCV003063155] |
Chr13:33053940 [GRCh38] Chr13:33628077 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2239G>A (p.Glu747Lys) |
single nucleotide variant |
not provided [RCV002646999] |
Chr13:33061318 [GRCh38] Chr13:33635455 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1169A>G (p.Glu390Gly) |
single nucleotide variant |
not specified [RCV004171857] |
Chr13:33054116 [GRCh38] Chr13:33628253 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.319G>T (p.Ala107Ser) |
single nucleotide variant |
not provided [RCV002898671] |
Chr13:33016759 [GRCh38] Chr13:33590897 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.821C>T (p.Ala274Val) |
single nucleotide variant |
not specified [RCV004212283] |
Chr13:33053768 [GRCh38] Chr13:33627905 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1883G>A (p.Arg628His) |
single nucleotide variant |
not provided [RCV002770538] |
Chr13:33060962 [GRCh38] Chr13:33635099 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.419G>A (p.Arg140His) |
single nucleotide variant |
not provided [RCV002650826] |
Chr13:33016859 [GRCh38] Chr13:33590997 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1746C>T (p.Ile582=) |
single nucleotide variant |
not provided [RCV002597445] |
Chr13:33060825 [GRCh38] Chr13:33634962 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.3011C>T (p.Ser1004Leu) |
single nucleotide variant |
not provided [RCV003088773] |
Chr13:33064158 [GRCh38] Chr13:33638295 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1979C>G (p.Pro660Arg) |
single nucleotide variant |
not provided [RCV002600456] |
Chr13:33061058 [GRCh38] Chr13:33635195 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1026G>A (p.Lys342=) |
single nucleotide variant |
not provided [RCV002580918] |
Chr13:33053973 [GRCh38] Chr13:33628110 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2999T>C (p.Ile1000Thr) |
single nucleotide variant |
not provided [RCV002649605] |
Chr13:33064146 [GRCh38] Chr13:33638283 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2041G>A (p.Val681Ile) |
single nucleotide variant |
not provided [RCV002646511] |
Chr13:33061120 [GRCh38] Chr13:33635257 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.832G>C (p.Val278Leu) |
single nucleotide variant |
not provided [RCV003064128] |
Chr13:33053779 [GRCh38] Chr13:33627916 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.120G>T (p.Gln40His) |
single nucleotide variant |
not provided [RCV002603611] |
Chr13:33016560 [GRCh38] Chr13:33590698 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1957A>G (p.Arg653Gly) |
single nucleotide variant |
not provided [RCV002605077] |
Chr13:33061036 [GRCh38] Chr13:33635173 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.581G>C (p.Trp194Ser) |
single nucleotide variant |
not specified [RCV004177626] |
Chr13:33017021 [GRCh38] Chr13:33591159 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NC_000013.11:g.33016361_33016468del |
deletion |
not provided [RCV002943600] |
Chr13:33016357..33016464 [GRCh38] Chr13:33590495..33590602 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2538G>A (p.Ala846=) |
single nucleotide variant |
not provided [RCV002605695] |
Chr13:33061617 [GRCh38] Chr13:33635754 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1602A>G (p.Val534=) |
single nucleotide variant |
not provided [RCV002607647] |
Chr13:33060681 [GRCh38] Chr13:33634818 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1308G>A (p.Lys436=) |
single nucleotide variant |
not provided [RCV002608678] |
Chr13:33054255 [GRCh38] Chr13:33628392 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2754C>T (p.Asn918=) |
single nucleotide variant |
not provided [RCV002635710] |
Chr13:33063901 [GRCh38] Chr13:33638038 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2802G>T (p.Gln934His) |
single nucleotide variant |
not provided [RCV002587351] |
Chr13:33063949 [GRCh38] Chr13:33638086 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1946G>A (p.Arg649His) |
single nucleotide variant |
not provided [RCV002583527] |
Chr13:33061025 [GRCh38] Chr13:33635162 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1865T>C (p.Met622Thr) |
single nucleotide variant |
not provided [RCV002612217] |
Chr13:33060944 [GRCh38] Chr13:33635081 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1368C>T (p.Thr456=) |
single nucleotide variant |
not provided [RCV002610624] |
Chr13:33055084 [GRCh38] Chr13:33629221 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2234A>T (p.Asp745Val) |
single nucleotide variant |
not specified [RCV004284876] |
Chr13:33061313 [GRCh38] Chr13:33635450 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1159C>T (p.Arg387Cys) |
single nucleotide variant |
not specified [RCV004263551] |
Chr13:33054106 [GRCh38] Chr13:33628243 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
not specified [RCV004333703] |
Chr13:33016447 [GRCh38] Chr13:33590585 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2138T>C (p.Val713Ala) |
single nucleotide variant |
not specified [RCV004350670] |
Chr13:33061217 [GRCh38] Chr13:33635354 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1040C>G (p.Ser347Cys) |
single nucleotide variant |
not specified [RCV004360780] |
Chr13:33053987 [GRCh38] Chr13:33628124 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1392C>T (p.Phe464=) |
single nucleotide variant |
not provided [RCV003873660]|not specified [RCV004369604] |
Chr13:33055108 [GRCh38] Chr13:33629245 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.969A>G (p.Val323=) |
single nucleotide variant |
not provided [RCV003875639] |
Chr13:33053916 [GRCh38] Chr13:33628053 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2379A>T (p.Glu793Asp) |
single nucleotide variant |
not provided [RCV003874610] |
Chr13:33061458 [GRCh38] Chr13:33635595 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.333G>C (p.Leu111Phe) |
single nucleotide variant |
not provided [RCV003826314] |
Chr13:33016773 [GRCh38] Chr13:33590911 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2748G>A (p.Ser916=) |
single nucleotide variant |
not provided [RCV003393254] |
Chr13:33063895 [GRCh38] Chr13:33638032 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2816C>T (p.Ala939Val) |
single nucleotide variant |
not provided [RCV003573795] |
Chr13:33063963 [GRCh38] Chr13:33638100 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1391del (p.Phe464fs) |
deletion |
not provided [RCV003578328] |
Chr13:33055105 [GRCh38] Chr13:33629242 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.579C>T (p.His193=) |
single nucleotide variant |
not provided [RCV003578256] |
Chr13:33017019 [GRCh38] Chr13:33591157 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1974G>A (p.Glu658=) |
single nucleotide variant |
not provided [RCV003693679] |
Chr13:33061053 [GRCh38] Chr13:33635190 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1994C>A (p.Ala665Asp) |
single nucleotide variant |
not provided [RCV003662571] |
Chr13:33061073 [GRCh38] Chr13:33635210 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2596C>T (p.Leu866Phe) |
single nucleotide variant |
not provided [RCV003686981] |
Chr13:33061675 [GRCh38] Chr13:33635812 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1204G>T (p.Asp402Tyr) |
single nucleotide variant |
not provided [RCV003572629] |
Chr13:33054151 [GRCh38] Chr13:33628288 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2781C>G (p.Leu927=) |
single nucleotide variant |
not provided [RCV003573467] |
Chr13:33063928 [GRCh38] Chr13:33638065 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2994C>T (p.Ser998=) |
single nucleotide variant |
not provided [RCV003714988] |
Chr13:33064141 [GRCh38] Chr13:33638278 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2986T>C (p.Ser996Pro) |
single nucleotide variant |
not provided [RCV003662444] |
Chr13:33064133 [GRCh38] Chr13:33638270 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.418C>T (p.Arg140Cys) |
single nucleotide variant |
not provided [RCV003546150] |
Chr13:33016858 [GRCh38] Chr13:33590996 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.38C>G (p.Pro13Arg) |
single nucleotide variant |
not provided [RCV003689585] |
Chr13:33016478 [GRCh38] Chr13:33590616 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1473G>A (p.Lys491=) |
single nucleotide variant |
not provided [RCV003686936] |
Chr13:33055189 [GRCh38] Chr13:33629326 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.3012G>A (p.Ser1004=) |
single nucleotide variant |
not provided [RCV003545567] |
Chr13:33064159 [GRCh38] Chr13:33638296 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.46TCGCTG[1] (p.16SL[1]) |
microsatellite |
not provided [RCV003659683] |
Chr13:33016485..33016490 [GRCh38] Chr13:33590623..33590628 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2856T>C (p.Gly952=) |
single nucleotide variant |
not provided [RCV003876371] |
Chr13:33064003 [GRCh38] Chr13:33638140 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.36G>A (p.Pro12=) |
single nucleotide variant |
not provided [RCV003662660] |
Chr13:33016476 [GRCh38] Chr13:33590614 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1176C>T (p.Pro392=) |
single nucleotide variant |
not provided [RCV003879727] |
Chr13:33054123 [GRCh38] Chr13:33628260 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.991G>A (p.Val331Ile) |
single nucleotide variant |
not provided [RCV003545830] |
Chr13:33053938 [GRCh38] Chr13:33628075 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1977C>A (p.Asn659Lys) |
single nucleotide variant |
not provided [RCV003660301] |
Chr13:33061056 [GRCh38] Chr13:33635193 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.660G>T (p.Ala220=) |
single nucleotide variant |
not provided [RCV003545467] |
Chr13:33017100 [GRCh38] Chr13:33591238 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.3012G>T (p.Ser1004=) |
single nucleotide variant |
not provided [RCV003815107] |
Chr13:33064159 [GRCh38] Chr13:33638296 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.541C>G (p.Arg181Gly) |
single nucleotide variant |
not provided [RCV003836716] |
Chr13:33016981 [GRCh38] Chr13:33591119 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.299C>T (p.Pro100Leu) |
single nucleotide variant |
not provided [RCV003840449] |
Chr13:33016739 [GRCh38] Chr13:33590877 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2355T>G (p.Leu785=) |
single nucleotide variant |
not provided [RCV003811964] |
Chr13:33061434 [GRCh38] Chr13:33635571 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.521G>C (p.Arg174Pro) |
single nucleotide variant |
not provided [RCV003548599] |
Chr13:33016961 [GRCh38] Chr13:33591099 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.138G>C (p.Ser46=) |
single nucleotide variant |
not provided [RCV003673282] |
Chr13:33016578 [GRCh38] Chr13:33590716 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2012G>A (p.Arg671Gln) |
single nucleotide variant |
not provided [RCV003816874] |
Chr13:33061091 [GRCh38] Chr13:33635228 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2012G>T (p.Arg671Leu) |
single nucleotide variant |
not provided [RCV003664697] |
Chr13:33061091 [GRCh38] Chr13:33635228 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1716T>G (p.Cys572Trp) |
single nucleotide variant |
not provided [RCV003668522] |
Chr13:33060795 [GRCh38] Chr13:33634932 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1208T>G (p.Leu403Arg) |
single nucleotide variant |
not provided [RCV003673257] |
Chr13:33054155 [GRCh38] Chr13:33628292 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.928G>A (p.Asp310Asn) |
single nucleotide variant |
not provided [RCV003816498] |
Chr13:33053875 [GRCh38] Chr13:33628012 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2511G>T (p.Thr837=) |
single nucleotide variant |
not provided [RCV003699742] |
Chr13:33061590 [GRCh38] Chr13:33635727 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.791G>A (p.Gly264Glu) |
single nucleotide variant |
not provided [RCV003814589] |
Chr13:33017231 [GRCh38] Chr13:33591369 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.105G>A (p.Pro35=) |
single nucleotide variant |
not provided [RCV003697778] |
Chr13:33016545 [GRCh38] Chr13:33590683 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
not provided [RCV003671824] |
Chr13:33055136 [GRCh38] Chr13:33629273 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.832G>A (p.Val278Ile) |
single nucleotide variant |
not provided [RCV003664989] |
Chr13:33053779 [GRCh38] Chr13:33627916 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.681C>T (p.Phe227=) |
single nucleotide variant |
not provided [RCV003850108] |
Chr13:33017121 [GRCh38] Chr13:33591259 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2019C>T (p.Cys673=) |
single nucleotide variant |
not provided [RCV003717180] |
Chr13:33061098 [GRCh38] Chr13:33635235 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.762C>T (p.Ala254=) |
single nucleotide variant |
not provided [RCV003834178] |
Chr13:33017202 [GRCh38] Chr13:33591340 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.820-19A>G |
single nucleotide variant |
not provided [RCV003671398] |
Chr13:33053748 [GRCh38] Chr13:33627885 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2294T>C (p.Phe765Ser) |
single nucleotide variant |
not provided [RCV003861740] |
Chr13:33061373 [GRCh38] Chr13:33635510 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1600-11G>T |
single nucleotide variant |
not provided [RCV003563588] |
Chr13:33060668 [GRCh38] Chr13:33634805 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.485C>T (p.Ala162Val) |
single nucleotide variant |
not provided [RCV003730732] |
Chr13:33016925 [GRCh38] Chr13:33591063 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1178A>G (p.Asn393Ser) |
single nucleotide variant |
not provided [RCV003675930] |
Chr13:33054125 [GRCh38] Chr13:33628262 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2153T>G (p.Phe718Cys) |
single nucleotide variant |
not provided [RCV003679552] |
Chr13:33061232 [GRCh38] Chr13:33635369 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2992T>A (p.Ser998Thr) |
single nucleotide variant |
not provided [RCV003553510] |
Chr13:33064139 [GRCh38] Chr13:33638276 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.478G>A (p.Gly160Ser) |
single nucleotide variant |
not provided [RCV003682817] |
Chr13:33016918 [GRCh38] Chr13:33591056 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.444C>G (p.Arg148=) |
single nucleotide variant |
not provided [RCV003842144] |
Chr13:33016884 [GRCh38] Chr13:33591022 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.366G>T (p.Gly122=) |
single nucleotide variant |
not provided [RCV003857014] |
Chr13:33016806 [GRCh38] Chr13:33590944 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.12C>A (p.Ser4Arg) |
single nucleotide variant |
not provided [RCV003563577] |
Chr13:33016452 [GRCh38] Chr13:33590590 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2748G>T (p.Ser916=) |
single nucleotide variant |
not provided [RCV003707706] |
Chr13:33063895 [GRCh38] Chr13:33638032 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1610C>T (p.Thr537Ile) |
single nucleotide variant |
not provided [RCV003731149] |
Chr13:33060689 [GRCh38] Chr13:33634826 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.126G>A (p.Trp42Ter) |
single nucleotide variant |
not provided [RCV003708103] |
Chr13:33016566 [GRCh38] Chr13:33590704 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2790T>G (p.Tyr930Ter) |
single nucleotide variant |
not provided [RCV003550698] |
Chr13:33063937 [GRCh38] Chr13:33638074 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2070G>A (p.Pro690=) |
single nucleotide variant |
not provided [RCV003722915] |
Chr13:33061149 [GRCh38] Chr13:33635286 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.819+20C>T |
single nucleotide variant |
not provided [RCV003822040] |
Chr13:33017279 [GRCh38] Chr13:33591417 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2768C>T (p.Pro923Leu) |
single nucleotide variant |
not provided [RCV003870350] |
Chr13:33063915 [GRCh38] Chr13:33638052 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1667G>A (p.Arg556Lys) |
single nucleotide variant |
not provided [RCV003685919] |
Chr13:33060746 [GRCh38] Chr13:33634883 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1101dup (p.Ala368fs) |
duplication |
not provided [RCV003846521] |
Chr13:33054042..33054043 [GRCh38] Chr13:33628179..33628180 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.761C>T (p.Ala254Val) |
single nucleotide variant |
not provided [RCV003867142] |
Chr13:33017201 [GRCh38] Chr13:33591339 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1766A>C (p.His589Pro) |
single nucleotide variant |
not provided [RCV003840853] |
Chr13:33060845 [GRCh38] Chr13:33634982 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2523C>T (p.Ser841=) |
single nucleotide variant |
not provided [RCV003822969] |
Chr13:33061602 [GRCh38] Chr13:33635739 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1929G>A (p.Pro643=) |
single nucleotide variant |
not provided [RCV003868802] |
Chr13:33061008 [GRCh38] Chr13:33635145 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2297G>C (p.Gly766Ala) |
single nucleotide variant |
not provided [RCV003676223] |
Chr13:33061376 [GRCh38] Chr13:33635513 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1468C>A (p.Pro490Thr) |
single nucleotide variant |
not provided [RCV003685654] |
Chr13:33055184 [GRCh38] Chr13:33629321 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1330+11G>A |
single nucleotide variant |
not provided [RCV003823176] |
Chr13:33054288 [GRCh38] Chr13:33628425 [GRCh37] Chr13:13q13.1 |
benign |
NM_004795.4(KL):c.1331-16C>T |
single nucleotide variant |
not provided [RCV003857655] |
Chr13:33055031 [GRCh38] Chr13:33629168 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2905G>A (p.Val969Met) |
single nucleotide variant |
not provided [RCV003729248] |
Chr13:33064052 [GRCh38] Chr13:33638189 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.339C>T (p.Ala113=) |
single nucleotide variant |
not provided [RCV003846619] |
Chr13:33016779 [GRCh38] Chr13:33590917 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2226C>G (p.Ser742=) |
single nucleotide variant |
not provided [RCV003726960] |
Chr13:33061305 [GRCh38] Chr13:33635442 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.1331-18C>A |
single nucleotide variant |
not provided [RCV003853618] |
Chr13:33055029 [GRCh38] Chr13:33629166 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2672T>A (p.Met891Lys) |
single nucleotide variant |
not provided [RCV003703973] |
Chr13:33061751 [GRCh38] Chr13:33635888 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.337G>T (p.Ala113Ser) |
single nucleotide variant |
not provided [RCV003866126] |
Chr13:33016777 [GRCh38] Chr13:33590915 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2313A>G (p.Pro771=) |
single nucleotide variant |
not provided [RCV003822793] |
Chr13:33061392 [GRCh38] Chr13:33635529 [GRCh37] Chr13:13q13.1 |
likely benign |
NM_004795.4(KL):c.2602A>G (p.Met868Val) |
single nucleotide variant |
not provided [RCV003820270] |
Chr13:33061681 [GRCh38] Chr13:33635818 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1978C>G (p.Pro660Ala) |
single nucleotide variant |
not provided [RCV003676663] |
Chr13:33061057 [GRCh38] Chr13:33635194 [GRCh37] Chr13:13q13.1 |
uncertain significance |
GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3 |
copy number gain |
not provided [RCV004442747] |
Chr13:19436287..36278224 [GRCh37] Chr13:13q11-13.3 |
uncertain significance |
NM_004795.4(KL):c.1478C>T (p.Ser493Leu) |
single nucleotide variant |
not specified [RCV004406508] |
Chr13:33055194 [GRCh38] Chr13:33629331 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.1726G>T (p.Ala576Ser) |
single nucleotide variant |
not specified [RCV004406509] |
Chr13:33060805 [GRCh38] Chr13:33634942 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.20C>T (p.Pro7Leu) |
single nucleotide variant |
not specified [RCV004406510] |
Chr13:33016460 [GRCh38] Chr13:33590598 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2179T>G (p.Ser727Ala) |
single nucleotide variant |
not specified [RCV004406511] |
Chr13:33061258 [GRCh38] Chr13:33635395 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2462C>T (p.Pro821Leu) |
single nucleotide variant |
not specified [RCV004406512] |
Chr13:33061541 [GRCh38] Chr13:33635678 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.2474A>G (p.Asn825Ser) |
single nucleotide variant |
not specified [RCV004637011] |
Chr13:33061553 [GRCh38] Chr13:33635690 [GRCh37] Chr13:13q13.1 |
uncertain significance |
NM_004795.4(KL):c.238T>G (p.Trp80Gly) |
single nucleotide variant |
not specified [RCV004637010] |
Chr13:33016678 [GRCh38] Chr13:33590816 [GRCh37] Chr13:13q13.1 |
uncertain significance |