GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 |
copy number gain |
See cases [RCV000051227] |
Chr20:89939..25697564 [GRCh38] Chr20:70580..25678200 [GRCh37] Chr20:18580..25626200 [NCBI36] Chr20:20p13-11.21 |
pathogenic |
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 |
copy number gain |
See cases [RCV000051041] |
Chr20:89939..19146279 [GRCh38] Chr20:70580..19126923 [GRCh37] Chr20:18580..19074923 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh38/hg38 20p13(chr20:2595077-3004837)x3 |
copy number gain |
See cases [RCV000052758] |
Chr20:2595077..3004837 [GRCh38] Chr20:2575723..2985483 [GRCh37] Chr20:2523723..2933483 [NCBI36] Chr20:20p13 |
uncertain significance |
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 |
copy number gain |
See cases [RCV000052995] |
Chr20:89939..19071495 [GRCh38] Chr20:70580..19052139 [GRCh37] Chr20:18580..19000139 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] |
Chr20:89939..21787252 [GRCh38] Chr20:70580..21767890 [GRCh37] Chr20:18580..21715890 [NCBI36] Chr20:20p13-11.22 |
pathogenic |
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] |
Chr20:89939..14818511 [GRCh38] Chr20:70580..14799157 [GRCh37] Chr20:18580..14747157 [NCBI36] Chr20:20p13-12.1 |
pathogenic |
NM_001184699.1(CPXM1):c.1753G>A (p.Asp585Asn) |
single nucleotide variant |
Malignant melanoma [RCV000072561] |
Chr20:2794420 [GRCh38] Chr20:2775066 [GRCh37] Chr20:2723066 [NCBI36] Chr20:20p13 |
not provided |
NM_001184699.1(CPXM1):c.1717G>A (p.Gly573Arg) |
single nucleotide variant |
Malignant melanoma [RCV000072562] |
Chr20:2794561 [GRCh38] Chr20:2775207 [GRCh37] Chr20:2723207 [NCBI36] Chr20:20p13 |
not provided |
NM_001184699.1(CPXM1):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
Malignant melanoma [RCV000072563] |
Chr20:2796264 [GRCh38] Chr20:2776910 [GRCh37] Chr20:2724910 [NCBI36] Chr20:20p13 |
not provided |
NM_001184699.1(CPXM1):c.1804G>A (p.Glu602Lys) |
single nucleotide variant |
Malignant melanoma [RCV000063705] |
Chr20:2794369 [GRCh38] Chr20:2775015 [GRCh37] Chr20:2723015 [NCBI36] Chr20:20p13 |
not provided |
NM_001184699.1(CPXM1):c.1688G>A (p.Gly563Glu) |
single nucleotide variant |
Malignant melanoma [RCV000063706] |
Chr20:2794590 [GRCh38] Chr20:2775236 [GRCh37] Chr20:2723236 [NCBI36] Chr20:20p13 |
not provided |
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 |
copy number gain |
See cases [RCV000133996] |
Chr20:80106..30227427 [GRCh38] Chr20:60747..29462103 [GRCh37] Chr20:8747..28075764 [NCBI36] Chr20:20p13-q11.1 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 |
copy number gain |
See cases [RCV000138677] |
Chr20:80106..13029401 [GRCh38] Chr20:60747..13010049 [GRCh37] Chr20:8747..12958049 [NCBI36] Chr20:20p13-12.1 |
pathogenic |
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 |
copy number gain |
See cases [RCV000139597] |
Chr20:80093..6386012 [GRCh38] Chr20:60734..6366659 [GRCh37] Chr20:8734..6314659 [NCBI36] Chr20:20p13-12.3 |
pathogenic |
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 |
copy number gain |
See cases [RCV000141348] |
Chr20:84402..6159078 [GRCh38] Chr20:65043..6139725 [GRCh37] Chr20:13043..6087725 [NCBI36] Chr20:20p13-12.3 |
pathogenic |
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 |
copy number gain |
See cases [RCV000142017] |
Chr20:80927..26324843 [GRCh38] Chr20:61568..26305479 [GRCh37] Chr20:9568..26253479 [NCBI36] Chr20:20p13-11.1 |
pathogenic |
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 |
copy number gain |
See cases [RCV000142285] |
Chr20:80927..5447679 [GRCh38] Chr20:61568..5428325 [GRCh37] Chr20:9568..5376325 [NCBI36] Chr20:20p13-12.3 |
uncertain significance |
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 |
copy number gain |
See cases [RCV000142917] |
Chr20:1269303..8626911 [GRCh38] Chr20:1249947..8607558 [GRCh37] Chr20:1197947..8555558 [NCBI36] Chr20:20p13-12.3 |
pathogenic |
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 |
copy number gain |
See cases [RCV000143426] |
Chr20:80928..18688031 [GRCh38] Chr20:61569..18668675 [GRCh37] Chr20:9569..18616675 [NCBI36] Chr20:20p13-11.23 |
pathogenic |
GRCh38/hg38 20p13(chr20:2526755-3081651)x3 |
copy number gain |
See cases [RCV000143472] |
Chr20:2526755..3081651 [GRCh38] Chr20:2507401..3062297 [GRCh37] Chr20:2455401..3010297 [NCBI36] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 |
copy number gain |
See cases [RCV000239772] |
Chr20:121521..5564937 [GRCh37] Chr20:20p13-12.3 |
pathogenic |
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 |
copy number gain |
See cases [RCV000239954] |
Chr20:80198..26075841 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
GRCh37/hg19 20p13(chr20:61568-4914872)x3 |
copy number gain |
See cases [RCV000446883] |
Chr20:61568..4914872 [GRCh37] Chr20:20p13 |
pathogenic |
GRCh37/hg19 20p13(chr20:61568-4904599)x3 |
copy number gain |
See cases [RCV000448397] |
Chr20:61568..4904599 [GRCh37] Chr20:20p13 |
pathogenic |
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 |
copy number gain |
not provided [RCV000487461] |
Chr20:80198..26208081 [GRCh37] Chr20:20p13-q11.21 |
pathogenic |
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 |
copy number gain |
See cases [RCV000510531] |
Chr20:213423..5483406 [GRCh37] Chr20:20p13-12.3 |
uncertain significance |
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 |
copy number loss |
See cases [RCV000511897] |
Chr20:2463101..8185680 [GRCh37] Chr20:20p13-12.3 |
pathogenic |
GRCh37/hg19 20p13(chr20:61568-2824960)x3 |
copy number gain |
See cases [RCV000511991] |
Chr20:61568..2824960 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_019609.5(CPXM1):c.385C>T (p.Arg129Trp) |
single nucleotide variant |
not specified [RCV004309460] |
Chr20:2798493 [GRCh38] Chr20:2779139 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1901C>T (p.Thr634Met) |
single nucleotide variant |
not specified [RCV004309838] |
Chr20:2794599 [GRCh38] Chr20:2775245 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) |
copy number gain |
See cases [RCV000512450] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 |
copy number gain |
See cases [RCV000512556] |
Chr20:61568..10486106 [GRCh37] Chr20:20p13-12.2 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13(chr20:2739583-3064949)x3 |
copy number gain |
not provided [RCV000741074] |
Chr20:2739583..3064949 [GRCh37] Chr20:20p13 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 |
copy number gain |
not provided [RCV000741057] |
Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_019609.5(CPXM1):c.882T>C (p.Pro294=) |
single nucleotide variant |
not provided [RCV000923955] |
Chr20:2797045 [GRCh38] Chr20:2777691 [GRCh37] Chr20:20p13 |
benign |
NM_019609.5(CPXM1):c.322G>A (p.Ala108Thr) |
single nucleotide variant |
not specified [RCV004304307] |
Chr20:2798744 [GRCh38] Chr20:2779390 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13(chr20:2738670-3054217)x3 |
copy number gain |
not provided [RCV000846074] |
Chr20:2738670..3054217 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 |
copy number gain |
not provided [RCV001007068] |
Chr20:61568..26305479 [GRCh37] Chr20:20p13-11.1 |
pathogenic |
NC_000020.10:g.(?_1959939)_(6760201_?)dup |
duplication |
Huntington disease-like 1 [RCV003110989]|Pigmentary pallidal degeneration [RCV003122285] |
Chr20:1959939..6760201 [GRCh37] Chr20:20p13-12.3 |
uncertain significance |
NM_019609.5(CPXM1):c.199C>G (p.Arg67Gly) |
single nucleotide variant |
not specified [RCV004106308] |
Chr20:2798867 [GRCh38] Chr20:2779513 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.482G>A (p.Gly161Glu) |
single nucleotide variant |
not specified [RCV004239865] |
Chr20:2798260 [GRCh38] Chr20:2778906 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1525G>A (p.Asp509Asn) |
single nucleotide variant |
not specified [RCV004141945] |
Chr20:2795794 [GRCh38] Chr20:2776440 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1202C>T (p.Pro401Leu) |
single nucleotide variant |
not specified [RCV004091162] |
Chr20:2796287 [GRCh38] Chr20:2776933 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1274G>A (p.Arg425His) |
single nucleotide variant |
not specified [RCV004139502] |
Chr20:2796130 [GRCh38] Chr20:2776776 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2123T>C (p.Leu708Pro) |
single nucleotide variant |
not specified [RCV004226339] |
Chr20:2794272 [GRCh38] Chr20:2774918 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1055A>G (p.Glu352Gly) |
single nucleotide variant |
not specified [RCV004148438] |
Chr20:2796434 [GRCh38] Chr20:2777080 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1709C>T (p.Thr570Met) |
single nucleotide variant |
not specified [RCV004194611] |
Chr20:2795610 [GRCh38] Chr20:2776256 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1576G>A (p.Asp526Asn) |
single nucleotide variant |
not specified [RCV004115386] |
Chr20:2795743 [GRCh38] Chr20:2776389 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1073G>A (p.Gly358Asp) |
single nucleotide variant |
not specified [RCV004127080] |
Chr20:2796416 [GRCh38] Chr20:2777062 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.866C>T (p.Ser289Leu) |
single nucleotide variant |
not specified [RCV004181164] |
Chr20:2797061 [GRCh38] Chr20:2777707 [GRCh37] Chr20:20p13 |
likely benign |
NM_019609.5(CPXM1):c.565A>G (p.Thr189Ala) |
single nucleotide variant |
not specified [RCV004112346] |
Chr20:2798177 [GRCh38] Chr20:2778823 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2057G>A (p.Arg686Gln) |
single nucleotide variant |
not specified [RCV004230429] |
Chr20:2794338 [GRCh38] Chr20:2774984 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1949A>G (p.His650Arg) |
single nucleotide variant |
not specified [RCV004159858] |
Chr20:2794551 [GRCh38] Chr20:2775197 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1646G>A (p.Arg549Gln) |
single nucleotide variant |
not specified [RCV004072683] |
Chr20:2795673 [GRCh38] Chr20:2776319 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.118T>G (p.Ser40Ala) |
single nucleotide variant |
not specified [RCV004186951] |
Chr20:2800455 [GRCh38] Chr20:2781101 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2182C>T (p.Arg728Trp) |
single nucleotide variant |
not specified [RCV004194132] |
Chr20:2794213 [GRCh38] Chr20:2774859 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1335G>T (p.Trp445Cys) |
single nucleotide variant |
not specified [RCV004166241] |
Chr20:2796069 [GRCh38] Chr20:2776715 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.863C>T (p.Ala288Val) |
single nucleotide variant |
not specified [RCV004133583] |
Chr20:2797064 [GRCh38] Chr20:2777710 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1588C>A (p.Arg530Ser) |
single nucleotide variant |
not specified [RCV004090661] |
Chr20:2795731 [GRCh38] Chr20:2776377 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
not specified [RCV004268902] |
Chr20:2795709 [GRCh38] Chr20:2776355 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.394G>A (p.Ala132Thr) |
single nucleotide variant |
not specified [RCV004269560] |
Chr20:2798484 [GRCh38] Chr20:2779130 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.134A>G (p.His45Arg) |
single nucleotide variant |
not specified [RCV004272937] |
Chr20:2800439 [GRCh38] Chr20:2781085 [GRCh37] Chr20:20p13 |
likely benign |
NM_019609.5(CPXM1):c.386G>A (p.Arg129Gln) |
single nucleotide variant |
not specified [RCV004263071] |
Chr20:2798492 [GRCh38] Chr20:2779138 [GRCh37] Chr20:20p13 |
likely benign |
NM_019609.5(CPXM1):c.1631A>G (p.Gln544Arg) |
single nucleotide variant |
not specified [RCV004248433] |
Chr20:2795688 [GRCh38] Chr20:2776334 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.913A>G (p.Met305Val) |
single nucleotide variant |
not specified [RCV004282898] |
Chr20:2797014 [GRCh38] Chr20:2777660 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.436C>T (p.Arg146Trp) |
single nucleotide variant |
not specified [RCV004247986] |
Chr20:2798442 [GRCh38] Chr20:2779088 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2174G>A (p.Arg725His) |
single nucleotide variant |
not provided [RCV004696333]|not specified [RCV004248463] |
Chr20:2794221 [GRCh38] Chr20:2774867 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3 |
copy number gain |
Renal agenesis [RCV003327640] |
Chr20:87153..23635465 [GRCh38] Chr20:20p13-11.21 |
pathogenic |
NM_019609.5(CPXM1):c.61G>C (p.Ala21Pro) |
single nucleotide variant |
not specified [RCV004349662] |
Chr20:2800512 [GRCh38] Chr20:2781158 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2051A>G (p.Asn684Ser) |
single nucleotide variant |
not specified [RCV004341827] |
Chr20:2794344 [GRCh38] Chr20:2774990 [GRCh37] Chr20:20p13 |
likely benign |
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3 |
copy number gain |
not provided [RCV003485207] |
Chr20:61569..9542361 [GRCh37] Chr20:20p13-12.2 |
pathogenic |
GRCh37/hg19 20p13(chr20:2640674-4323312)x3 |
copy number gain |
not specified [RCV003986138] |
Chr20:2640674..4323312 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1205C>G (p.Ser402Cys) |
single nucleotide variant |
not specified [RCV004374739] |
Chr20:2796284 [GRCh38] Chr20:2776930 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1678G>A (p.Gly560Ser) |
single nucleotide variant |
not specified [RCV004374742] |
Chr20:2795641 [GRCh38] Chr20:2776287 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1186C>T (p.Arg396Cys) |
single nucleotide variant |
not specified [RCV004374737] |
Chr20:2796303 [GRCh38] Chr20:2776949 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1553G>T (p.Arg518Leu) |
single nucleotide variant |
not specified [RCV004374740] |
Chr20:2795766 [GRCh38] Chr20:2776412 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2047C>T (p.Arg683Trp) |
single nucleotide variant |
not specified [RCV004374745] |
Chr20:2794348 [GRCh38] Chr20:2774994 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2056C>T (p.Arg686Trp) |
single nucleotide variant |
not specified [RCV004374746] |
Chr20:2794339 [GRCh38] Chr20:2774985 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1204T>A (p.Ser402Thr) |
single nucleotide variant |
not specified [RCV004374738] |
Chr20:2796285 [GRCh38] Chr20:2776931 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1672G>T (p.Val558Leu) |
single nucleotide variant |
not specified [RCV004374741] |
Chr20:2795647 [GRCh38] Chr20:2776293 [GRCh37] Chr20:20p13 |
likely benign |
NM_019609.5(CPXM1):c.1898A>G (p.Asp633Gly) |
single nucleotide variant |
not specified [RCV004374743] |
Chr20:2794602 [GRCh38] Chr20:2775248 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1933G>A (p.Val645Met) |
single nucleotide variant |
not specified [RCV004374744] |
Chr20:2794567 [GRCh38] Chr20:2775213 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.227T>C (p.Met76Thr) |
single nucleotide variant |
not specified [RCV004374747] |
Chr20:2798839 [GRCh38] Chr20:2779485 [GRCh37] Chr20:20p13 |
uncertain significance |
GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3 |
copy number gain |
not provided [RCV003885495] |
Chr20:68351..23860313 [GRCh37] Chr20:20p13-11.21 |
pathogenic |
GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3 |
copy number gain |
not provided [RCV003885494] |
Chr20:68351..16142323 [GRCh37] Chr20:20p13-12.1 |
pathogenic |
NM_019609.5(CPXM1):c.766C>T (p.Pro256Ser) |
single nucleotide variant |
not specified [RCV004374748] |
Chr20:2797258 [GRCh38] Chr20:2777904 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1187G>T (p.Arg396Leu) |
single nucleotide variant |
not specified [RCV004611138] |
Chr20:2796302 [GRCh38] Chr20:2776948 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.555G>A (p.Ser185=) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004560204] |
Chr20:2798187 [GRCh38] Chr20:2778833 [GRCh37] Chr20:20p13 |
likely benign |
NC_000020.10:g.(?_2361615)_(3903941_?)dup |
duplication |
not provided [RCV004580998] |
Chr20:2361615..3903941 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1693G>C (p.Gly565Arg) |
single nucleotide variant |
not specified [RCV004611143] |
Chr20:2795626 [GRCh38] Chr20:2776272 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1377C>G (p.Asn459Lys) |
single nucleotide variant |
not specified [RCV004611146] |
Chr20:2796027 [GRCh38] Chr20:2776673 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.371G>A (p.Arg124Gln) |
single nucleotide variant |
not specified [RCV004611137] |
Chr20:2798507 [GRCh38] Chr20:2779153 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1646G>T (p.Arg549Leu) |
single nucleotide variant |
not specified [RCV004611140] |
Chr20:2795673 [GRCh38] Chr20:2776319 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1555G>A (p.Glu519Lys) |
single nucleotide variant |
not specified [RCV004611139] |
Chr20:2795764 [GRCh38] Chr20:2776410 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1553G>A (p.Arg518His) |
single nucleotide variant |
not specified [RCV004611142] |
Chr20:2795766 [GRCh38] Chr20:2776412 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.101C>T (p.Thr34Ile) |
single nucleotide variant |
not specified [RCV004611145] |
Chr20:2800472 [GRCh38] Chr20:2781118 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2132T>C (p.Leu711Pro) |
single nucleotide variant |
not specified [RCV004611141] |
Chr20:2794263 [GRCh38] Chr20:2774909 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.37C>T (p.Pro13Ser) |
single nucleotide variant |
not specified [RCV004611144] |
Chr20:2800536 [GRCh38] Chr20:2781182 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.94C>A (p.Pro32Thr) |
single nucleotide variant |
not specified [RCV004611136] |
Chr20:2800479 [GRCh38] Chr20:2781125 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.805G>C (p.Ala269Pro) |
single nucleotide variant |
not specified [RCV004912803] |
Chr20:2797219 [GRCh38] Chr20:2777865 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2126G>A (p.Arg709His) |
single nucleotide variant |
not specified [RCV004912797] |
Chr20:2794269 [GRCh38] Chr20:2774915 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1379A>G (p.His460Arg) |
single nucleotide variant |
not specified [RCV004912802] |
Chr20:2796025 [GRCh38] Chr20:2776671 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.158C>T (p.Ala53Val) |
single nucleotide variant |
not specified [RCV004912801] |
Chr20:2800415 [GRCh38] Chr20:2781061 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1187G>A (p.Arg396His) |
single nucleotide variant |
not specified [RCV004912804] |
Chr20:2796302 [GRCh38] Chr20:2776948 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.194G>A (p.Arg65Gln) |
single nucleotide variant |
not specified [RCV004912800] |
Chr20:2798872 [GRCh38] Chr20:2779518 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.679G>A (p.Ala227Thr) |
single nucleotide variant |
not specified [RCV004912799] |
Chr20:2797970 [GRCh38] Chr20:2778616 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2101A>T (p.Thr701Ser) |
single nucleotide variant |
not specified [RCV004912798] |
Chr20:2794294 [GRCh38] Chr20:2774940 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1864C>T (p.Arg622Cys) |
single nucleotide variant |
not specified [RCV004912795] |
Chr20:2794636 [GRCh38] Chr20:2775282 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1927A>G (p.Ile643Val) |
single nucleotide variant |
not specified [RCV004912796] |
Chr20:2794573 [GRCh38] Chr20:2775219 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.1267G>A (p.Glu423Lys) |
single nucleotide variant |
not specified [RCV004912794] |
Chr20:2796137 [GRCh38] Chr20:2776783 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.289G>A (p.Val97Met) |
single nucleotide variant |
not specified [RCV004361218] |
Chr20:2798777 [GRCh38] Chr20:2779423 [GRCh37] Chr20:20p13 |
uncertain significance |
NM_019609.5(CPXM1):c.2131C>T (p.Leu711=) |
single nucleotide variant |
not provided [RCV000950019] |
Chr20:2794264 [GRCh38] Chr20:2774910 [GRCh37] Chr20:20p13 |
benign |