GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 |
copy number loss |
See cases [RCV000052192] |
Chr6:82569098..93753476 [GRCh38] Chr6:83278815..94463194 [GRCh37] Chr6:83335534..94519915 [NCBI36] Chr6:6q14.1-16.1 |
pathogenic |
NM_001160226.1(CNR1):c.919C>T (p.Arg307Cys) |
single nucleotide variant |
Malignant melanoma [RCV000067497] |
Chr6:88144356 [GRCh38] Chr6:88854075 [GRCh37] Chr6:88910794 [NCBI36] Chr6:6q15 |
not provided |
NM_001160226.1(CNR1):c.905A>C (p.His302Pro) |
single nucleotide variant |
Malignant melanoma [RCV000067498] |
Chr6:88144370 [GRCh38] Chr6:88854089 [GRCh37] Chr6:88910808 [NCBI36] Chr6:6q15 |
not provided |
NM_001160226.1(CNR1):c.754C>T (p.Leu252Phe) |
single nucleotide variant |
Malignant melanoma [RCV000067499] |
Chr6:88144521 [GRCh38] Chr6:88854240 [GRCh37] Chr6:88910959 [NCBI36] Chr6:6q15 |
not provided |
NM_001160226.1(CNR1):c.1050G>A (p.Val350=) |
single nucleotide variant |
Malignant melanoma [RCV000061496] |
Chr6:88144225 [GRCh38] Chr6:88853944 [GRCh37] Chr6:88910663 [NCBI36] Chr6:6q15 |
not provided |
NM_001160226.1(CNR1):c.468C>T (p.Ile156=) |
single nucleotide variant |
Malignant melanoma [RCV000061497] |
Chr6:88144807 [GRCh38] Chr6:88854526 [GRCh37] Chr6:88911245 [NCBI36] Chr6:6q15 |
not provided |
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 |
copy number loss |
See cases [RCV000135773] |
Chr6:83838303..98822313 [GRCh38] Chr6:84548022..99270189 [GRCh37] Chr6:84604741..99376910 [NCBI36] Chr6:6q14.2-16.1 |
pathogenic |
GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1 |
copy number loss |
See cases [RCV000135450] |
Chr6:85804273..93189258 [GRCh38] Chr6:86513991..93898976 [GRCh37] Chr6:86570710..93955697 [NCBI36] Chr6:6q14.3-16.1 |
pathogenic |
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 |
copy number loss |
See cases [RCV000136757] |
Chr6:85370716..90669793 [GRCh38] Chr6:86080434..91379512 [GRCh37] Chr6:86137153..91436233 [NCBI36] Chr6:6q14.3-15 |
pathogenic |
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 |
copy number gain |
See cases [RCV000139729] |
Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1 |
pathogenic |
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 |
copy number loss |
See cases [RCV000143505] |
Chr6:75926199..92710793 [GRCh38] Chr6:76635916..93420511 [GRCh37] Chr6:76692636..93477232 [NCBI36] Chr6:6q14.1-16.1 |
pathogenic |
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 |
copy number loss |
See cases [RCV002292710] |
Chr6:78911022..98909173 [GRCh37] Chr6:6q14.1-16.1 |
uncertain significance |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 |
copy number loss |
See cases [RCV000445666] |
Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_016083.6(CNR1):c.256C>T (p.Leu86Phe) |
single nucleotide variant |
not specified [RCV004320649] |
Chr6:88145019 [GRCh38] Chr6:88854738 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 |
copy number gain |
not provided [RCV000682688] |
Chr6:81261418..97796269 [GRCh37] Chr6:6q14.1-16.1 |
pathogenic |
Single allele |
deletion |
not provided [RCV000677932] |
Chr6:83319012..91907669 [GRCh37] Chr6:6q14.1-15 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6q15(chr6:88843377-88866376)x3 |
copy number gain |
not provided [RCV000745893] |
Chr6:88843377..88866376 [GRCh37] Chr6:6q15 |
benign |
NM_016083.6(CNR1):c.261G>A (p.Ser87=) |
single nucleotide variant |
not provided [RCV000942986] |
Chr6:88145014 [GRCh38] Chr6:88854733 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.1401G>A (p.Thr467=) |
single nucleotide variant |
not provided [RCV000922489] |
Chr6:88143874 [GRCh38] Chr6:88853593 [GRCh37] Chr6:6q15 |
likely benign |
GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 |
copy number loss |
not provided [RCV001005826] |
Chr6:86024761..90023713 [GRCh37] Chr6:6q14.3-15 |
pathogenic |
NM_016083.6(CNR1):c.1131G>T (p.Thr377=) |
single nucleotide variant |
not provided [RCV000944641] |
Chr6:88144144 [GRCh38] Chr6:88853863 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.1092G>A (p.Val364=) |
single nucleotide variant |
not provided [RCV000921629] |
Chr6:88144183 [GRCh38] Chr6:88853902 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.480G>A (p.Ala160=) |
single nucleotide variant |
not provided [RCV000922870] |
Chr6:88144795 [GRCh38] Chr6:88854514 [GRCh37] Chr6:6q15 |
likely benign |
GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1 |
copy number loss |
not provided [RCV000848967] |
Chr6:87627836..93698486 [GRCh37] Chr6:6q14.3-16.1 |
uncertain significance |
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 |
copy number gain |
not provided [RCV000849950] |
Chr6:88783642..96282103 [GRCh37] Chr6:6q15-16.1 |
uncertain significance |
NM_016083.6(CNR1):c.191C>T (p.Ala64Val) |
single nucleotide variant |
not specified [RCV004321429] |
Chr6:88145084 [GRCh38] Chr6:88854803 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.681T>A (p.Ile227=) |
single nucleotide variant |
not provided [RCV000975272] |
Chr6:88144594 [GRCh38] Chr6:88854313 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.912C>T (p.His304=) |
single nucleotide variant |
not provided [RCV000951263] |
Chr6:88144363 [GRCh38] Chr6:88854082 [GRCh37] Chr6:6q15 |
benign |
GRCh37/hg19 6q15(chr6:88412786-89246061)x3 |
copy number gain |
See cases [RCV001007424] |
Chr6:88412786..89246061 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) |
copy number gain |
not specified [RCV002053581] |
Chr6:69938252..94379210 [GRCh37] Chr6:6q12-16.1 |
pathogenic |
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) |
copy number loss |
not specified [RCV002053595] |
Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31 |
pathogenic |
NM_016083.6(CNR1):c.433C>A (p.Arg145Ser) |
single nucleotide variant |
not specified [RCV004088700] |
Chr6:88144842 [GRCh38] Chr6:88854561 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.1129A>G (p.Thr377Ala) |
single nucleotide variant |
not specified [RCV004098365] |
Chr6:88144146 [GRCh38] Chr6:88853865 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.111G>A (p.Met37Ile) |
single nucleotide variant |
not specified [RCV004268461] |
Chr6:88145164 [GRCh38] Chr6:88854883 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.1325T>G (p.Val442Gly) |
single nucleotide variant |
not specified [RCV004335569] |
Chr6:88143950 [GRCh38] Chr6:88853669 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 |
copy number loss |
not provided [RCV003482926] |
Chr6:88018122..94565168 [GRCh37] Chr6:6q15-16.1 |
pathogenic |
NM_016083.6(CNR1):c.1052T>C (p.Val351Ala) |
single nucleotide variant |
not specified [RCV004442029] |
Chr6:88144223 [GRCh38] Chr6:88853942 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.1336G>A (p.Ala446Thr) |
single nucleotide variant |
not specified [RCV004442030] |
Chr6:88143939 [GRCh38] Chr6:88853658 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.915C>G (p.Ala305=) |
single nucleotide variant |
CNR1-related disorder [RCV003907003] |
Chr6:88144360 [GRCh38] Chr6:88854079 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.30T>C (p.Asp10=) |
single nucleotide variant |
CNR1-related disorder [RCV003962040] |
Chr6:88145245 [GRCh38] Chr6:88854964 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.744C>T (p.Ala248=) |
single nucleotide variant |
CNR1-related disorder [RCV003916811] |
Chr6:88144531 [GRCh38] Chr6:88854250 [GRCh37] Chr6:6q15 |
likely benign |
NM_016083.6(CNR1):c.91G>A (p.Glu31Lys) |
single nucleotide variant |
not specified [RCV004905052] |
Chr6:88145184 [GRCh38] Chr6:88854903 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.149T>C (p.Leu50Ser) |
single nucleotide variant |
not specified [RCV004905053] |
Chr6:88145126 [GRCh38] Chr6:88854845 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.83T>A (p.Ile28Asn) |
single nucleotide variant |
not specified [RCV004905055] |
Chr6:88145192 [GRCh38] Chr6:88854911 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.871G>C (p.Val291Leu) |
single nucleotide variant |
not specified [RCV004260100] |
Chr6:88144404 [GRCh38] Chr6:88854123 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.1051G>T (p.Val351Leu) |
single nucleotide variant |
not specified [RCV004442028] |
Chr6:88144224 [GRCh38] Chr6:88853943 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.185T>C (p.Met62Thr) |
single nucleotide variant |
not specified [RCV004442031] |
Chr6:88145090 [GRCh38] Chr6:88854809 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.469G>A (p.Gly157Ser) |
single nucleotide variant |
not specified [RCV004442032] |
Chr6:88144806 [GRCh38] Chr6:88854525 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_016083.6(CNR1):c.1259A>G (p.Gln420Arg) |
single nucleotide variant |
not specified [RCV004905054] |
Chr6:88144016 [GRCh38] Chr6:88853735 [GRCh37] Chr6:6q15 |
uncertain significance |