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_021813.4(BACH2):c.1044G>A (p.Thr348=) |
single nucleotide variant |
not provided [RCV002216368] |
Chr6:89951062 [GRCh38] Chr6:90660781 [GRCh37] Chr6:90717502 [NCBI36] Chr6:6q15 |
likely benign|not provided |
NM_001170794.1(BACH2):c.1852C>T (p.Pro618Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061500] |
Chr6:89938335 [GRCh38] Chr6:90648054 [GRCh37] Chr6:90704775 [NCBI36] Chr6:6q15 |
not provided |
NM_001170794.1(BACH2):c.-161-15474G>T |
single nucleotide variant |
Lung cancer [RCV000097256] |
Chr6:90104583 [GRCh38] Chr6:90814302 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_001170794.1(BACH2):c.-162+48427G>T |
single nucleotide variant |
Lung cancer [RCV000097257] |
Chr6:90158142 [GRCh38] Chr6:90867861 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1102C>T (p.Pro368Ser) |
single nucleotide variant |
Immunodeficiency 60 [RCV001332410]|not provided [RCV002546559] |
Chr6:89951004 [GRCh38] Chr6:90660723 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh38/hg38 6q15(chr6:89931798-91707636)x3 |
copy number gain |
See cases [RCV000134297] |
Chr6:89931798..91707636 [GRCh38] Chr6:90641517..92417354 [GRCh37] Chr6:90698238..92474075 [NCBI36] Chr6:6q15 |
uncertain significance |
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 6q15(chr6:90066705-90579827)x3 |
copy number gain |
See cases [RCV000138045] |
Chr6:90066705..90579827 [GRCh38] Chr6:90776424..91289546 [GRCh37] Chr6:90833145..91346267 [NCBI36] Chr6:6q15 |
uncertain significance |
GRCh38/hg38 6q15(chr6:90066705-90571680)x3 |
copy number gain |
See cases [RCV000140302] |
Chr6:90066705..90571680 [GRCh38] Chr6:90776424..91281399 [GRCh37] Chr6:90833145..91338120 [NCBI36] Chr6:6q15 |
uncertain significance |
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 6q15(chr6:89339079-92096042)x3 |
copy number gain |
See cases [RCV000142031] |
Chr6:89339079..92096042 [GRCh38] Chr6:90048798..92805760 [GRCh37] Chr6:90105517..92862481 [NCBI36] Chr6:6q15 |
uncertain significance |
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 6q15(chr6:90774789-91295547)x3 |
copy number gain |
See cases [RCV000447562] |
Chr6:90774789..91295547 [GRCh37] Chr6:6q15 |
likely benign |
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 |
GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3 |
copy number gain |
See cases [RCV000511573] |
Chr6:89941373..95634177 [GRCh37] Chr6:6q15-16.1 |
likely benign |
GRCh37/hg19 6q15(chr6:90774789-91284990)x3 |
copy number gain |
See cases [RCV000511261] |
Chr6:90774789..91284990 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15(chr6:90887390-91728519)x3 |
copy number gain |
See cases [RCV000663398] |
Chr6:90887390..91728519 [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(chr6:90296588-90646226)x3 |
copy number gain |
not provided [RCV000745905] |
Chr6:90296588..90646226 [GRCh37] Chr6:6q15 |
benign |
GRCh37/hg19 6q15(chr6:90772256-91284990)x3 |
copy number gain |
not provided [RCV000745906] |
Chr6:90772256..91284990 [GRCh37] Chr6:6q15 |
benign |
GRCh37/hg19 6q15(chr6:91005130-91006749)x1 |
copy number loss |
not provided [RCV000745907] |
Chr6:91005130..91006749 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.15G>A (p.Glu5=) |
single nucleotide variant |
BACH2-related disorder [RCV003978330]|Immunodeficiency 60 [RCV002489337]|not provided [RCV000958580] |
Chr6:90008830 [GRCh38] Chr6:90718549 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.2103A>G (p.Glu701=) |
single nucleotide variant |
not provided [RCV000892642] |
Chr6:89932831 [GRCh38] Chr6:90642550 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1252G>A (p.Ala418Thr) |
single nucleotide variant |
BACH2-related disorder [RCV003920529]|not provided [RCV000881250] |
Chr6:89950854 [GRCh38] Chr6:90660573 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.2267C>A (p.Ala756Glu) |
single nucleotide variant |
not specified [RCV004299644] |
Chr6:89932667 [GRCh38] Chr6:90642386 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.71T>C (p.Leu24Pro) |
single nucleotide variant |
Immunodeficiency 60 [RCV000767852] |
Chr6:90008774 [GRCh38] Chr6:90718493 [GRCh37] Chr6:6q15 |
pathogenic |
NM_021813.4(BACH2):c.2362G>A (p.Glu788Lys) |
single nucleotide variant |
Immunodeficiency 60 [RCV000767853]|not provided [RCV001531012] |
Chr6:89932572 [GRCh38] Chr6:90642291 [GRCh37] Chr6:6q15 |
pathogenic|uncertain significance |
NM_021813.4(BACH2):c.1727G>A (p.Arg576Gln) |
single nucleotide variant |
not provided [RCV000788895] |
Chr6:89950379 [GRCh38] Chr6:90660098 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1735A>G (p.Ile579Val) |
single nucleotide variant |
not provided [RCV000926677] |
Chr6:89950371 [GRCh38] Chr6:90660090 [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 |
NM_021813.4(BACH2):c.2230A>G (p.Ile744Val) |
single nucleotide variant |
BACH2-related disorder [RCV003413584]|not provided [RCV000788691]|not specified [RCV004027372] |
Chr6:89932704 [GRCh38] Chr6:90642423 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.955A>G (p.Thr319Ala) |
single nucleotide variant |
Immunodeficiency 60 [RCV003224468]|not provided [RCV000788775]|not specified [RCV004601272] |
Chr6:89951151 [GRCh38] Chr6:90660870 [GRCh37] Chr6:6q15 |
likely benign|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 |
GRCh37/hg19 6q15(chr6:90108876-90806063)x3 |
copy number gain |
not provided [RCV001005830] |
Chr6:90108876..90806063 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.672G>A (p.Ala224=) |
single nucleotide variant |
not provided [RCV003105090] |
Chr6:89951434 [GRCh38] Chr6:90661153 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2036G>A (p.Arg679His) |
single nucleotide variant |
not provided [RCV003104454] |
Chr6:89938151 [GRCh38] Chr6:90647870 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1536C>G (p.Pro512=) |
single nucleotide variant |
BACH2-related disorder [RCV003910515]|not provided [RCV000887869] |
Chr6:89950570 [GRCh38] Chr6:90660289 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.2361C>T (p.Ser787=) |
single nucleotide variant |
not provided [RCV000961743] |
Chr6:89932573 [GRCh38] Chr6:90642292 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.583G>A (p.Ala195Thr) |
single nucleotide variant |
BACH2-related disorder [RCV003977964]|not provided [RCV000909615] |
Chr6:89951523 [GRCh38] Chr6:90661242 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.2326C>A (p.Pro776Thr) |
single nucleotide variant |
not provided [RCV001090673]|not specified [RCV004031965] |
Chr6:89932608 [GRCh38] Chr6:90642327 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.616C>G (p.Leu206Val) |
single nucleotide variant |
not specified [RCV004162362] |
Chr6:89951490 [GRCh38] Chr6:90661209 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15(chr6:90085893-90910484)x3 |
copy number gain |
not provided [RCV001259391] |
Chr6:90085893..90910484 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15(chr6:90285430-90706261)x3 |
copy number gain |
not provided [RCV001259392] |
Chr6:90285430..90706261 [GRCh37] Chr6:6q15 |
uncertain significance |
NC_000006.11:g.(?_90518279)_(91296602_?)dup |
duplication |
not provided [RCV001339947] |
Chr6:90518279..91296602 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2296G>A (p.Val766Met) |
single nucleotide variant |
not provided [RCV001297624] |
Chr6:89932638 [GRCh38] Chr6:90642357 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2277A>G (p.Gln759=) |
single nucleotide variant |
not provided [RCV001313629] |
Chr6:89932657 [GRCh38] Chr6:90642376 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.2217C>T (p.Pro739=) |
single nucleotide variant |
not provided [RCV001423216] |
Chr6:89932717 [GRCh38] Chr6:90642436 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1309G>A (p.Ala437Thr) |
single nucleotide variant |
not provided [RCV001358182]|not specified [RCV004887678] |
Chr6:89950797 [GRCh38] Chr6:90660516 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.435G>A (p.Lys145=) |
single nucleotide variant |
not provided [RCV001373573] |
Chr6:89951671 [GRCh38] Chr6:90661390 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.1843C>A (p.Leu615Ile) |
single nucleotide variant |
not provided [RCV001354596] |
Chr6:89938344 [GRCh38] Chr6:90648063 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1724T>C (p.Val575Ala) |
single nucleotide variant |
Immunodeficiency 60 [RCV001270769] |
Chr6:89950382 [GRCh38] Chr6:90660101 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1506A>G (p.Val502=) |
single nucleotide variant |
Immunodeficiency 60 [RCV001553899]|not provided [RCV001509839]|not specified [RCV003399268] |
Chr6:89950600 [GRCh38] Chr6:90660319 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1227G>C (p.Ser409=) |
single nucleotide variant |
not provided [RCV001512008] |
Chr6:89950879 [GRCh38] Chr6:90660598 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.2220G>A (p.Thr740=) |
single nucleotide variant |
BACH2-related disorder [RCV003948455]|not provided [RCV001497552] |
Chr6:89932714 [GRCh38] Chr6:90642433 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2457C>T (p.Thr819=) |
single nucleotide variant |
not provided [RCV001453766] |
Chr6:89932477 [GRCh38] Chr6:90642196 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.624C>T (p.Pro208=) |
single nucleotide variant |
not provided [RCV001416051] |
Chr6:89951482 [GRCh38] Chr6:90661201 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1071C>T (p.Pro357=) |
single nucleotide variant |
not provided [RCV001514431]|not specified [RCV003399281] |
Chr6:89951035 [GRCh38] Chr6:90660754 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.249A>G (p.Thr83=) |
single nucleotide variant |
Immunodeficiency 60 [RCV001553900]|not provided [RCV001514432]|not specified [RCV003394090] |
Chr6:89951857 [GRCh38] Chr6:90661576 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.168C>T (p.Ala56=) |
single nucleotide variant |
BACH2-related disorder [RCV003956168]|not provided [RCV001515672] |
Chr6:90008677 [GRCh38] Chr6:90718396 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.1435G>A (p.Ala479Thr) |
single nucleotide variant |
BACH2-related disorder [RCV003948482]|not provided [RCV001506674] |
Chr6:89950671 [GRCh38] Chr6:90660390 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu) |
single nucleotide variant |
BACH2-related disorder [RCV003900647]|not provided [RCV001476397] |
Chr6:89950862 [GRCh38] Chr6:90660581 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.579G>A (p.Glu193=) |
single nucleotide variant |
BACH2-related disorder [RCV003931001]|not provided [RCV001482618] |
Chr6:89951527 [GRCh38] Chr6:90661246 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2160C>T (p.Pro720=) |
single nucleotide variant |
not provided [RCV001517542] |
Chr6:89932774 [GRCh38] Chr6:90642493 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.871C>G (p.Leu291Val) |
single nucleotide variant |
not provided [RCV001517543] |
Chr6:89951235 [GRCh38] Chr6:90660954 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1332G>A (p.Ser444=) |
single nucleotide variant |
not provided [RCV001454649] |
Chr6:89950774 [GRCh38] Chr6:90660493 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2295C>T (p.Asn765=) |
single nucleotide variant |
not provided [RCV001515478]|not specified [RCV003487343] |
Chr6:89932639 [GRCh38] Chr6:90642358 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1587G>A (p.Ala529=) |
single nucleotide variant |
not provided [RCV001399292] |
Chr6:89950519 [GRCh38] Chr6:90660238 [GRCh37] Chr6:6q15 |
likely benign |
GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1 |
copy number loss |
not provided [RCV001832990] |
Chr6:90008961..93761490 [GRCh37] Chr6:6q15-16.1 |
uncertain significance |
NM_021813.4(BACH2):c.2428C>T (p.Pro810Ser) |
single nucleotide variant |
not provided [RCV002045276] |
Chr6:89932506 [GRCh38] Chr6:90642225 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.484G>C (p.Glu162Gln) |
single nucleotide variant |
not provided [RCV001971056] |
Chr6:89951622 [GRCh38] Chr6:90661341 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2132A>G (p.Gln711Arg) |
single nucleotide variant |
not provided [RCV001971403]|not specified [RCV004042333] |
Chr6:89932802 [GRCh38] Chr6:90642521 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1825A>G (p.Arg609Gly) |
single nucleotide variant |
not provided [RCV001971285]|not specified [RCV004042262] |
Chr6:89950281 [GRCh38] Chr6:90660000 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1211A>G (p.Asn404Ser) |
single nucleotide variant |
not provided [RCV001929797] |
Chr6:89950895 [GRCh38] Chr6:90660614 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1534C>G (p.Pro512Ala) |
single nucleotide variant |
not provided [RCV001870605] |
Chr6:89950572 [GRCh38] Chr6:90660291 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.999G>T (p.Arg333Ser) |
single nucleotide variant |
not provided [RCV001948503] |
Chr6:89951107 [GRCh38] Chr6:90660826 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2281G>A (p.Ala761Thr) |
single nucleotide variant |
not provided [RCV001863925] |
Chr6:89932653 [GRCh38] Chr6:90642372 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2151C>G (p.Ile717Met) |
single nucleotide variant |
not provided [RCV001969783] |
Chr6:89932783 [GRCh38] Chr6:90642502 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.100G>A (p.Asp34Asn) |
single nucleotide variant |
not provided [RCV002003576] |
Chr6:90008745 [GRCh38] Chr6:90718464 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1006G>C (p.Ala336Pro) |
single nucleotide variant |
not provided [RCV002040448] |
Chr6:89951100 [GRCh38] Chr6:90660819 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1656G>T (p.Gln552His) |
single nucleotide variant |
not provided [RCV001909245]|not specified [RCV004042740] |
Chr6:89950450 [GRCh38] Chr6:90660169 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2315C>T (p.Pro772Leu) |
single nucleotide variant |
not provided [RCV002039651]|not specified [RCV004038864] |
Chr6:89932619 [GRCh38] Chr6:90642338 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1364A>G (p.Asp455Gly) |
single nucleotide variant |
not provided [RCV001983672] |
Chr6:89950742 [GRCh38] Chr6:90660461 [GRCh37] Chr6:6q15 |
uncertain significance |
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 |
GRCh37/hg19 6q15(chr6:90189085-90697359) |
copy number gain |
not specified [RCV002053597] |
Chr6:90189085..90697359 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1045A>G (p.Lys349Glu) |
single nucleotide variant |
not provided [RCV001984383] |
Chr6:89951061 [GRCh38] Chr6:90660780 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1362G>T (p.Leu454Phe) |
single nucleotide variant |
not provided [RCV002005169] |
Chr6:89950744 [GRCh38] Chr6:90660463 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.486GGA[2] (p.Glu164del) |
microsatellite |
not provided [RCV001893222] |
Chr6:89951612..89951614 [GRCh38] Chr6:90661331..90661333 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.240G>T (p.Glu80Asp) |
single nucleotide variant |
not provided [RCV001891398] |
Chr6:90008605 [GRCh38] Chr6:90718324 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2294A>G (p.Asn765Ser) |
single nucleotide variant |
not provided [RCV001969534] |
Chr6:89932640 [GRCh38] Chr6:90642359 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.485A>C (p.Glu162Ala) |
single nucleotide variant |
not provided [RCV001872173] |
Chr6:89951621 [GRCh38] Chr6:90661340 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.506A>C (p.Glu169Ala) |
single nucleotide variant |
not provided [RCV001894342] |
Chr6:89951600 [GRCh38] Chr6:90661319 [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 |
NM_021813.4(BACH2):c.839C>T (p.Pro280Leu) |
single nucleotide variant |
not provided [RCV002005934] |
Chr6:89951267 [GRCh38] Chr6:90660986 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2183G>A (p.Arg728Gln) |
single nucleotide variant |
BACH2-related disorder [RCV003426240]|not provided [RCV001893517] |
Chr6:89932751 [GRCh38] Chr6:90642470 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.31A>C (p.Met11Leu) |
single nucleotide variant |
not provided [RCV001894380] |
Chr6:90008814 [GRCh38] Chr6:90718533 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.766A>G (p.Thr256Ala) |
single nucleotide variant |
not provided [RCV001966919] |
Chr6:89951340 [GRCh38] Chr6:90661059 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1586C>T (p.Ala529Val) |
single nucleotide variant |
not provided [RCV001945849] |
Chr6:89950520 [GRCh38] Chr6:90660239 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1078T>A (p.Ser360Thr) |
single nucleotide variant |
not provided [RCV001945948] |
Chr6:89951028 [GRCh38] Chr6:90660747 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.757T>G (p.Phe253Val) |
single nucleotide variant |
not provided [RCV002003240] |
Chr6:89951349 [GRCh38] Chr6:90661068 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2402C>T (p.Pro801Leu) |
single nucleotide variant |
not provided [RCV001909421]|not specified [RCV004042776] |
Chr6:89932532 [GRCh38] Chr6:90642251 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2327C>T (p.Pro776Leu) |
single nucleotide variant |
not provided [RCV001940778] |
Chr6:89932607 [GRCh38] Chr6:90642326 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1081C>A (p.Gln361Lys) |
single nucleotide variant |
not provided [RCV002028292] |
Chr6:89951025 [GRCh38] Chr6:90660744 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.627G>C (p.Glu209Asp) |
single nucleotide variant |
not provided [RCV002020314] |
Chr6:89951479 [GRCh38] Chr6:90661198 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1346C>T (p.Ser449Phe) |
single nucleotide variant |
not provided [RCV001864702] |
Chr6:89950760 [GRCh38] Chr6:90660479 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1410C>T (p.Ala470=) |
single nucleotide variant |
not provided [RCV002037821] |
Chr6:89950696 [GRCh38] Chr6:90660415 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.898G>A (p.Ala300Thr) |
single nucleotide variant |
not provided [RCV001917343]|not specified [RCV004039106] |
Chr6:89951208 [GRCh38] Chr6:90660927 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.452G>A (p.Arg151His) |
single nucleotide variant |
not provided [RCV002031796] |
Chr6:89951654 [GRCh38] Chr6:90661373 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.889G>A (p.Glu297Lys) |
single nucleotide variant |
not provided [RCV002028186] |
Chr6:89951217 [GRCh38] Chr6:90660936 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.551A>G (p.Gln184Arg) |
single nucleotide variant |
not provided [RCV001877392] |
Chr6:89951555 [GRCh38] Chr6:90661274 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.634G>A (p.Val212Met) |
single nucleotide variant |
not provided [RCV001877450]|not specified [RCV004040603] |
Chr6:89951472 [GRCh38] Chr6:90661191 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.891G>C (p.Glu297Asp) |
single nucleotide variant |
not provided [RCV001951752] |
Chr6:89951215 [GRCh38] Chr6:90660934 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2203C>T (p.Pro735Ser) |
single nucleotide variant |
not provided [RCV001921207] |
Chr6:89932731 [GRCh38] Chr6:90642450 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.952C>G (p.Pro318Ala) |
single nucleotide variant |
not provided [RCV002028421] |
Chr6:89951154 [GRCh38] Chr6:90660873 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.503A>G (p.Glu168Gly) |
single nucleotide variant |
not provided [RCV001931543] |
Chr6:89951603 [GRCh38] Chr6:90661322 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.431G>A (p.Arg144Gln) |
single nucleotide variant |
not provided [RCV001896956] |
Chr6:89951675 [GRCh38] Chr6:90661394 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1331C>T (p.Ser444Leu) |
single nucleotide variant |
not provided [RCV001974673] |
Chr6:89950775 [GRCh38] Chr6:90660494 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.92G>A (p.Arg31Gln) |
single nucleotide variant |
not provided [RCV001922867] |
Chr6:90008753 [GRCh38] Chr6:90718472 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1340C>T (p.Ser447Phe) |
single nucleotide variant |
not provided [RCV001960258] |
Chr6:89950766 [GRCh38] Chr6:90660485 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.716C>T (p.Thr239Ile) |
single nucleotide variant |
not provided [RCV002035066] |
Chr6:89951390 [GRCh38] Chr6:90661109 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.595G>T (p.Val199Leu) |
single nucleotide variant |
not provided [RCV001997746] |
Chr6:89951511 [GRCh38] Chr6:90661230 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1183C>T (p.Pro395Ser) |
single nucleotide variant |
not provided [RCV001884570] |
Chr6:89950923 [GRCh38] Chr6:90660642 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.847G>A (p.Glu283Lys) |
single nucleotide variant |
not provided [RCV001899554] |
Chr6:89951259 [GRCh38] Chr6:90660978 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.406A>C (p.Ser136Arg) |
single nucleotide variant |
not provided [RCV002035738] |
Chr6:89951700 [GRCh38] Chr6:90661419 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.332G>A (p.Arg111His) |
single nucleotide variant |
not provided [RCV002036290]|not specified [RCV004044791] |
Chr6:89951774 [GRCh38] Chr6:90661493 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.908G>A (p.Arg303Lys) |
single nucleotide variant |
not provided [RCV002035214] |
Chr6:89951198 [GRCh38] Chr6:90660917 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1004T>C (p.Val335Ala) |
single nucleotide variant |
not provided [RCV001922971]|not specified [RCV004887685] |
Chr6:89951102 [GRCh38] Chr6:90660821 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.864C>G (p.Ser288Arg) |
single nucleotide variant |
not provided [RCV001938757]|not specified [RCV004041883] |
Chr6:89951242 [GRCh38] Chr6:90660961 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.195G>A (p.Ala65=) |
single nucleotide variant |
not provided [RCV001960662] |
Chr6:90008650 [GRCh38] Chr6:90718369 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1337A>G (p.His446Arg) |
single nucleotide variant |
BACH2-related disorder [RCV003403661]|not provided [RCV002036430] |
Chr6:89950769 [GRCh38] Chr6:90660488 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2267C>T (p.Ala756Val) |
single nucleotide variant |
not provided [RCV001878316]|not specified [RCV004039616] |
Chr6:89932667 [GRCh38] Chr6:90642386 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2313_2314delinsAA (p.Pro772Thr) |
indel |
not provided [RCV001919972] |
Chr6:89932620..89932621 [GRCh38] Chr6:90642339..90642340 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.962C>T (p.Thr321Met) |
single nucleotide variant |
not provided [RCV001979818]|not specified [RCV004603105] |
Chr6:89951144 [GRCh38] Chr6:90660863 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1829G>A (p.Gly610Asp) |
single nucleotide variant |
not provided [RCV001900142] |
Chr6:89950277 [GRCh38] Chr6:90659996 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1351G>T (p.Val451Leu) |
single nucleotide variant |
not provided [RCV001902619] |
Chr6:89950755 [GRCh38] Chr6:90660474 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.613G>A (p.Ala205Thr) |
single nucleotide variant |
not provided [RCV001936794] |
Chr6:89951493 [GRCh38] Chr6:90661212 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.836C>T (p.Pro279Leu) |
single nucleotide variant |
not provided [RCV001922209] |
Chr6:89951270 [GRCh38] Chr6:90660989 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.911C>A (p.Ala304Glu) |
single nucleotide variant |
not provided [RCV001899729]|not specified [RCV004039775] |
Chr6:89951195 [GRCh38] Chr6:90660914 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.670G>A (p.Ala224Thr) |
single nucleotide variant |
not provided [RCV001980359]|not specified [RCV004045274] |
Chr6:89951436 [GRCh38] Chr6:90661155 [GRCh37] Chr6:6q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021813.4(BACH2):c.1226C>T (p.Ser409Leu) |
single nucleotide variant |
not provided [RCV002019663]|not specified [RCV004045925] |
Chr6:89950880 [GRCh38] Chr6:90660599 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1076C>T (p.Thr359Ile) |
single nucleotide variant |
BACH2-related disorder [RCV003948864]|not provided [RCV001999292] |
Chr6:89951030 [GRCh38] Chr6:90660749 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1447G>A (p.Gly483Ser) |
single nucleotide variant |
not provided [RCV001924388] |
Chr6:89950659 [GRCh38] Chr6:90660378 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.1252G>T (p.Ala418Ser) |
single nucleotide variant |
not provided [RCV001924454] |
Chr6:89950854 [GRCh38] Chr6:90660573 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.680A>G (p.Gln227Arg) |
single nucleotide variant |
not provided [RCV002030639] |
Chr6:89951426 [GRCh38] Chr6:90661145 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2240C>T (p.Ala747Val) |
single nucleotide variant |
not provided [RCV001902606]|not specified [RCV004041334] |
Chr6:89932694 [GRCh38] Chr6:90642413 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1162T>C (p.Phe388Leu) |
single nucleotide variant |
not provided [RCV002027923] |
Chr6:89950944 [GRCh38] Chr6:90660663 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.931C>G (p.Arg311Gly) |
single nucleotide variant |
not provided [RCV001898945] |
Chr6:89951175 [GRCh38] Chr6:90660894 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2281G>T (p.Ala761Ser) |
single nucleotide variant |
BACH2-related disorder [RCV004752135]|not provided [RCV002048832] |
Chr6:89932653 [GRCh38] Chr6:90642372 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1122G>C (p.Lys374Asn) |
single nucleotide variant |
not provided [RCV001957982]|not specified [RCV004887687] |
Chr6:89950984 [GRCh38] Chr6:90660703 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
not provided [RCV001900185] |
Chr6:90008826 [GRCh38] Chr6:90718545 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.568A>G (p.Ile190Val) |
single nucleotide variant |
not provided [RCV001976998] |
Chr6:89951538 [GRCh38] Chr6:90661257 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.971C>G (p.Ala324Gly) |
single nucleotide variant |
not provided [RCV001930804] |
Chr6:89951135 [GRCh38] Chr6:90660854 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1779C>T (p.Ser593=) |
single nucleotide variant |
not provided [RCV002170550] |
Chr6:89950327 [GRCh38] Chr6:90660046 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1290C>T (p.Ser430=) |
single nucleotide variant |
not provided [RCV002107592] |
Chr6:89950816 [GRCh38] Chr6:90660535 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1425C>A (p.Pro475=) |
single nucleotide variant |
not provided [RCV002147325] |
Chr6:89950681 [GRCh38] Chr6:90660400 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.744C>T (p.His248=) |
single nucleotide variant |
not provided [RCV002168593] |
Chr6:89951362 [GRCh38] Chr6:90661081 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2241G>A (p.Ala747=) |
single nucleotide variant |
not provided [RCV002188280] |
Chr6:89932693 [GRCh38] Chr6:90642412 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2334A>G (p.Gly778=) |
single nucleotide variant |
not provided [RCV002130127] |
Chr6:89932600 [GRCh38] Chr6:90642319 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.455C>T (p.Pro152Leu) |
single nucleotide variant |
Immunodeficiency 60 [RCV002208761]|not provided [RCV003089104] |
Chr6:89951651 [GRCh38] Chr6:90661370 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.264G>A (p.Gly88=) |
single nucleotide variant |
not provided [RCV002112316] |
Chr6:89951842 [GRCh38] Chr6:90661561 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1440C>T (p.Tyr480=) |
single nucleotide variant |
not provided [RCV002072846] |
Chr6:89950666 [GRCh38] Chr6:90660385 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1215C>T (p.Phe405=) |
single nucleotide variant |
not provided [RCV002191495] |
Chr6:89950891 [GRCh38] Chr6:90660610 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.195G>T (p.Ala65=) |
single nucleotide variant |
not provided [RCV002112020] |
Chr6:90008650 [GRCh38] Chr6:90718369 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2044-11C>T |
single nucleotide variant |
not provided [RCV002148798] |
Chr6:89932901 [GRCh38] Chr6:90642620 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2043+8G>A |
single nucleotide variant |
not provided [RCV002208512] |
Chr6:89938136 [GRCh38] Chr6:90647855 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1514A>G (p.Lys505Arg) |
single nucleotide variant |
not provided [RCV002115898] |
Chr6:89950592 [GRCh38] Chr6:90660311 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.911C>T (p.Ala304Val) |
single nucleotide variant |
not provided [RCV002214404] |
Chr6:89951195 [GRCh38] Chr6:90660914 [GRCh37] Chr6:6q15 |
likely benign|conflicting interpretations of pathogenicity |
NM_021813.4(BACH2):c.2044-21_2044-20del |
microsatellite |
not provided [RCV002215413] |
Chr6:89932910..89932911 [GRCh38] Chr6:90642629..90642630 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.852T>C (p.Asn284=) |
single nucleotide variant |
not provided [RCV002215382] |
Chr6:89951254 [GRCh38] Chr6:90660973 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.138G>A (p.Lys46=) |
single nucleotide variant |
not provided [RCV002131470] |
Chr6:90008707 [GRCh38] Chr6:90718426 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2418G>C (p.Glu806Asp) |
single nucleotide variant |
Immunodeficiency 60 [RCV002500396]|not provided [RCV002186073] |
Chr6:89932516 [GRCh38] Chr6:90642235 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2403G>A (p.Pro801=) |
single nucleotide variant |
not provided [RCV002097024] |
Chr6:89932531 [GRCh38] Chr6:90642250 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.399C>G (p.Leu133=) |
single nucleotide variant |
BACH2-related disorder [RCV003933691]|not provided [RCV002208616] |
Chr6:89951707 [GRCh38] Chr6:90661426 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1992C>T (p.Arg664=) |
single nucleotide variant |
not provided [RCV002080818] |
Chr6:89938195 [GRCh38] Chr6:90647914 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2331C>T (p.Pro777=) |
single nucleotide variant |
BACH2-related disorder [RCV003903514]|not provided [RCV002133186] |
Chr6:89932603 [GRCh38] Chr6:90642322 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2331C>G (p.Pro777=) |
single nucleotide variant |
not provided [RCV002108512] |
Chr6:89932603 [GRCh38] Chr6:90642322 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1503G>A (p.Pro501=) |
single nucleotide variant |
not provided [RCV002071841] |
Chr6:89950603 [GRCh38] Chr6:90660322 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.997A>C (p.Arg333=) |
single nucleotide variant |
not provided [RCV002212264] |
Chr6:89951109 [GRCh38] Chr6:90660828 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.444G>A (p.Ala148=) |
single nucleotide variant |
not provided [RCV002092580] |
Chr6:89951662 [GRCh38] Chr6:90661381 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1785G>T (p.Ser595=) |
single nucleotide variant |
not provided [RCV002115282] |
Chr6:89950321 [GRCh38] Chr6:90660040 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1584C>T (p.Tyr528=) |
single nucleotide variant |
not provided [RCV002084825] |
Chr6:89950522 [GRCh38] Chr6:90660241 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1224G>T (p.Gly408=) |
single nucleotide variant |
not provided [RCV002077754] |
Chr6:89950882 [GRCh38] Chr6:90660601 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2280C>T (p.Cys760=) |
single nucleotide variant |
not provided [RCV002112897] |
Chr6:89932654 [GRCh38] Chr6:90642373 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1560C>G (p.Ser520=) |
single nucleotide variant |
not provided [RCV002116416] |
Chr6:89950546 [GRCh38] Chr6:90660265 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.114C>T (p.Asp38=) |
single nucleotide variant |
not provided [RCV002150663] |
Chr6:90008731 [GRCh38] Chr6:90718450 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.585C>T (p.Ala195=) |
single nucleotide variant |
not provided [RCV002193370] |
Chr6:89951521 [GRCh38] Chr6:90661240 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.477T>C (p.Ser159=) |
single nucleotide variant |
not provided [RCV002077859] |
Chr6:89951629 [GRCh38] Chr6:90661348 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2481T>A (p.Thr827=) |
single nucleotide variant |
not provided [RCV002151424] |
Chr6:89932453 [GRCh38] Chr6:90642172 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1011G>A (p.Ser337=) |
single nucleotide variant |
not provided [RCV002197779] |
Chr6:89951095 [GRCh38] Chr6:90660814 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1599C>T (p.Ser533=) |
single nucleotide variant |
not provided [RCV002103770] |
Chr6:89950507 [GRCh38] Chr6:90660226 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2268G>A (p.Ala756=) |
single nucleotide variant |
not provided [RCV002156057] |
Chr6:89932666 [GRCh38] Chr6:90642385 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1791G>T (p.Ser597=) |
single nucleotide variant |
not provided [RCV002159833] |
Chr6:89950315 [GRCh38] Chr6:90660034 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.525G>A (p.Thr175=) |
single nucleotide variant |
not provided [RCV002175965] |
Chr6:89951581 [GRCh38] Chr6:90661300 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2253T>G (p.Ala751=) |
single nucleotide variant |
not provided [RCV002099546] |
Chr6:89932681 [GRCh38] Chr6:90642400 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1008C>G (p.Ala336=) |
single nucleotide variant |
not provided [RCV002101812] |
Chr6:89951098 [GRCh38] Chr6:90660817 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1644G>A (p.Ser548=) |
single nucleotide variant |
not provided [RCV002143055] |
Chr6:89950462 [GRCh38] Chr6:90660181 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.729T>C (p.Tyr243=) |
single nucleotide variant |
BACH2-related disorder [RCV003903537]|not provided [RCV002143366] |
Chr6:89951377 [GRCh38] Chr6:90661096 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1755T>C (p.Tyr585=) |
single nucleotide variant |
not provided [RCV002157524] |
Chr6:89950351 [GRCh38] Chr6:90660070 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.954T>C (p.Pro318=) |
single nucleotide variant |
not provided [RCV002137156] |
Chr6:89951152 [GRCh38] Chr6:90660871 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1977G>A (p.Ala659=) |
single nucleotide variant |
not provided [RCV002101663] |
Chr6:89938210 [GRCh38] Chr6:90647929 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.582C>T (p.Ala194=) |
single nucleotide variant |
not provided [RCV002117702] |
Chr6:89951524 [GRCh38] Chr6:90661243 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.452G>C (p.Arg151Pro) |
single nucleotide variant |
BACH2-related disorder [RCV003950926]|not provided [RCV002202181] |
Chr6:89951654 [GRCh38] Chr6:90661373 [GRCh37] Chr6:6q15 |
benign|likely benign |
NM_021813.4(BACH2):c.1383G>A (p.Pro461=) |
single nucleotide variant |
not provided [RCV002181272] |
Chr6:89950723 [GRCh38] Chr6:90660442 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1944T>C (p.His648=) |
single nucleotide variant |
not provided [RCV002154755] |
Chr6:89938243 [GRCh38] Chr6:90647962 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.931C>A (p.Arg311=) |
single nucleotide variant |
not provided [RCV002203883] |
Chr6:89951175 [GRCh38] Chr6:90660894 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1020C>T (p.Cys340=) |
single nucleotide variant |
not provided [RCV002122145] |
Chr6:89951086 [GRCh38] Chr6:90660805 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1287G>A (p.Arg429=) |
single nucleotide variant |
not provided [RCV002178705] |
Chr6:89950819 [GRCh38] Chr6:90660538 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2158C>A (p.Pro720Thr) |
single nucleotide variant |
not provided [RCV002179180] |
Chr6:89932776 [GRCh38] Chr6:90642495 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1311T>C (p.Ala437=) |
single nucleotide variant |
not provided [RCV002103207] |
Chr6:89950795 [GRCh38] Chr6:90660514 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1791G>A (p.Ser597=) |
single nucleotide variant |
BACH2-related disorder [RCV003968797]|not provided [RCV002216572] |
Chr6:89950315 [GRCh38] Chr6:90660034 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1065C>A (p.Gly355=) |
single nucleotide variant |
not provided [RCV002177400] |
Chr6:89951041 [GRCh38] Chr6:90660760 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2319C>T (p.Gly773=) |
single nucleotide variant |
not provided [RCV002119883] |
Chr6:89932615 [GRCh38] Chr6:90642334 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2499C>T (p.Asp833=) |
single nucleotide variant |
not provided [RCV002203407] |
Chr6:89932435 [GRCh38] Chr6:90642154 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.330C>T (p.Ile110=) |
single nucleotide variant |
not provided [RCV002181521] |
Chr6:89951776 [GRCh38] Chr6:90661495 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.822G>A (p.Gln274=) |
single nucleotide variant |
not provided [RCV002219819] |
Chr6:89951284 [GRCh38] Chr6:90661003 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2190C>T (p.Cys730=) |
single nucleotide variant |
not provided [RCV002163177] |
Chr6:89932744 [GRCh38] Chr6:90642463 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2458G>A (p.Val820Met) |
single nucleotide variant |
not provided [RCV002219889] |
Chr6:89932476 [GRCh38] Chr6:90642195 [GRCh37] Chr6:6q15 |
likely benign |
NC_000006.11:g.(?_90642127)_(90648089_?)dup |
duplication |
not provided [RCV003109831] |
Chr6:90642127..90648089 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.796C>T (p.Leu266Phe) |
single nucleotide variant |
not provided [RCV003118404] |
Chr6:89951310 [GRCh38] Chr6:90661029 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1430C>T (p.Ser477Leu) |
single nucleotide variant |
not provided [RCV003115572] |
Chr6:89950676 [GRCh38] Chr6:90660395 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1204G>A (p.Val402Met) |
single nucleotide variant |
not provided [RCV003118764] |
Chr6:89950902 [GRCh38] Chr6:90660621 [GRCh37] Chr6:6q15 |
uncertain significance |
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 |
NM_021813.4(BACH2):c.1806G>T (p.Glu602Asp) |
single nucleotide variant |
not provided [RCV002297338] |
Chr6:89950300 [GRCh38] Chr6:90660019 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1474G>A (p.Gly492Arg) |
single nucleotide variant |
not provided [RCV002301086] |
Chr6:89950632 [GRCh38] Chr6:90660351 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1643C>T (p.Ser548Leu) |
single nucleotide variant |
not provided [RCV002296636] |
Chr6:89950463 [GRCh38] Chr6:90660182 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1429T>G (p.Ser477Ala) |
single nucleotide variant |
not provided [RCV002302230] |
Chr6:89950677 [GRCh38] Chr6:90660396 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.875G>C (p.Cys292Ser) |
single nucleotide variant |
not provided [RCV002301359] |
Chr6:89951231 [GRCh38] Chr6:90660950 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1018T>A (p.Cys340Ser) |
single nucleotide variant |
not provided [RCV003013788] |
Chr6:89951088 [GRCh38] Chr6:90660807 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1095C>T (p.Ala365=) |
single nucleotide variant |
not provided [RCV003015944] |
Chr6:89951011 [GRCh38] Chr6:90660730 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.61A>G (p.Thr21Ala) |
single nucleotide variant |
not provided [RCV002686054] |
Chr6:90008784 [GRCh38] Chr6:90718503 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.446G>A (p.Cys149Tyr) |
single nucleotide variant |
not specified [RCV004086271] |
Chr6:89951660 [GRCh38] Chr6:90661379 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2322G>A (p.Ala774=) |
single nucleotide variant |
not provided [RCV003095377] |
Chr6:89932612 [GRCh38] Chr6:90642331 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1075A>G (p.Thr359Ala) |
single nucleotide variant |
not provided [RCV002819545] |
Chr6:89951031 [GRCh38] Chr6:90660750 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1756G>A (p.Gly586Arg) |
single nucleotide variant |
not provided [RCV002842673] |
Chr6:89950350 [GRCh38] Chr6:90660069 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2107T>C (p.Leu703=) |
single nucleotide variant |
not provided [RCV002947724] |
Chr6:89932827 [GRCh38] Chr6:90642546 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.635T>C (p.Val212Ala) |
single nucleotide variant |
not provided [RCV002908114] |
Chr6:89951471 [GRCh38] Chr6:90661190 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.254G>A (p.Arg85Lys) |
single nucleotide variant |
not provided [RCV002908305]|not specified [RCV004887700] |
Chr6:89951852 [GRCh38] Chr6:90661571 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.587C>T (p.Ala196Val) |
single nucleotide variant |
not provided [RCV002751073] |
Chr6:89951519 [GRCh38] Chr6:90661238 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1837-11C>T |
single nucleotide variant |
not provided [RCV002843565] |
Chr6:89938361 [GRCh38] Chr6:90648080 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1945G>A (p.Asp649Asn) |
single nucleotide variant |
not provided [RCV002996872] |
Chr6:89938242 [GRCh38] Chr6:90647961 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2222C>T (p.Ala741Val) |
single nucleotide variant |
not provided [RCV002730230] |
Chr6:89932712 [GRCh38] Chr6:90642431 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1601G>A (p.Gly534Glu) |
single nucleotide variant |
not specified [RCV004119794] |
Chr6:89950505 [GRCh38] Chr6:90660224 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1074T>A (p.Ser358Arg) |
single nucleotide variant |
not provided [RCV003016292] |
Chr6:89951032 [GRCh38] Chr6:90660751 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2161G>A (p.Glu721Lys) |
single nucleotide variant |
not provided [RCV002750853] |
Chr6:89932773 [GRCh38] Chr6:90642492 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1461C>G (p.Ala487=) |
single nucleotide variant |
not provided [RCV002863712] |
Chr6:89950645 [GRCh38] Chr6:90660364 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.243+13G>T |
single nucleotide variant |
not provided [RCV003013510] |
Chr6:90008589 [GRCh38] Chr6:90718308 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.469G>A (p.Glu157Lys) |
single nucleotide variant |
not provided [RCV002908253]|not specified [RCV004066085] |
Chr6:89951637 [GRCh38] Chr6:90661356 [GRCh37] Chr6:6q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021813.4(BACH2):c.1997G>A (p.Arg666Lys) |
single nucleotide variant |
not provided [RCV002819897] |
Chr6:89938190 [GRCh38] Chr6:90647909 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1302C>T (p.Ser434=) |
single nucleotide variant |
not provided [RCV002613394] |
Chr6:89950804 [GRCh38] Chr6:90660523 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2385A>G (p.Arg795=) |
single nucleotide variant |
not provided [RCV002996095] |
Chr6:89932549 [GRCh38] Chr6:90642268 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2320G>A (p.Ala774Thr) |
single nucleotide variant |
not provided [RCV002953255] |
Chr6:89932614 [GRCh38] Chr6:90642333 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1593C>T (p.Asp531=) |
single nucleotide variant |
not provided [RCV003081622] |
Chr6:89950513 [GRCh38] Chr6:90660232 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1921T>G (p.Ser641Ala) |
single nucleotide variant |
not provided [RCV002662627] |
Chr6:89938266 [GRCh38] Chr6:90647985 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2332G>A (p.Gly778Arg) |
single nucleotide variant |
not provided [RCV003079530]|not specified [RCV004071833] |
Chr6:89932602 [GRCh38] Chr6:90642321 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1837-20T>C |
single nucleotide variant |
not provided [RCV002622800] |
Chr6:89938370 [GRCh38] Chr6:90648089 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2335C>T (p.Pro779Ser) |
single nucleotide variant |
not provided [RCV002825202] |
Chr6:89932599 [GRCh38] Chr6:90642318 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2520T>C (p.Tyr840=) |
single nucleotide variant |
not provided [RCV002846786] |
Chr6:89932414 [GRCh38] Chr6:90642133 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1434G>A (p.Gln478=) |
single nucleotide variant |
not provided [RCV002795591] |
Chr6:89950672 [GRCh38] Chr6:90660391 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2019T>C (p.Asn673=) |
single nucleotide variant |
not provided [RCV002740021] |
Chr6:89938168 [GRCh38] Chr6:90647887 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1107C>T (p.Ala369=) |
single nucleotide variant |
not provided [RCV003053637] |
Chr6:89950999 [GRCh38] Chr6:90660718 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.321C>G (p.Arg107=) |
single nucleotide variant |
not provided [RCV002639256] |
Chr6:89951785 [GRCh38] Chr6:90661504 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.731A>G (p.Asn244Ser) |
single nucleotide variant |
not provided [RCV002638859] |
Chr6:89951375 [GRCh38] Chr6:90661094 [GRCh37] Chr6:6q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021813.4(BACH2):c.1002C>T (p.Ser334=) |
single nucleotide variant |
not provided [RCV002570135] |
Chr6:89951104 [GRCh38] Chr6:90660823 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.888T>C (p.Asp296=) |
single nucleotide variant |
not provided [RCV003055098] |
Chr6:89951218 [GRCh38] Chr6:90660937 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.393C>G (p.Thr131=) |
single nucleotide variant |
not provided [RCV002639255] |
Chr6:89951713 [GRCh38] Chr6:90661432 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1154A>G (p.Tyr385Cys) |
single nucleotide variant |
not provided [RCV003079319] |
Chr6:89950952 [GRCh38] Chr6:90660671 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.1025G>A (p.Arg342Lys) |
single nucleotide variant |
not provided [RCV002700126] |
Chr6:89951081 [GRCh38] Chr6:90660800 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1134G>A (p.Gln378=) |
single nucleotide variant |
not provided [RCV002894488] |
Chr6:89950972 [GRCh38] Chr6:90660691 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2306G>A (p.Cys769Tyr) |
single nucleotide variant |
not provided [RCV002957822] |
Chr6:89932628 [GRCh38] Chr6:90642347 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1235G>A (p.Arg412Lys) |
single nucleotide variant |
not provided [RCV003043582] |
Chr6:89950871 [GRCh38] Chr6:90660590 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1748A>G (p.Gln583Arg) |
single nucleotide variant |
not provided [RCV003025160] |
Chr6:89950358 [GRCh38] Chr6:90660077 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2308T>C (p.Leu770=) |
single nucleotide variant |
not provided [RCV002805732] |
Chr6:89932626 [GRCh38] Chr6:90642345 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1446C>T (p.His482=) |
single nucleotide variant |
not provided [RCV002625430] |
Chr6:89950660 [GRCh38] Chr6:90660379 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.969A>G (p.Pro323=) |
single nucleotide variant |
not provided [RCV003040529] |
Chr6:89951137 [GRCh38] Chr6:90660856 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1155C>T (p.Tyr385=) |
single nucleotide variant |
not provided [RCV003082673] |
Chr6:89950951 [GRCh38] Chr6:90660670 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2392G>T (p.Gly798Cys) |
single nucleotide variant |
not provided [RCV002642232] |
Chr6:89932542 [GRCh38] Chr6:90642261 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1857A>G (p.Val619=) |
single nucleotide variant |
not provided [RCV002595699] |
Chr6:89938330 [GRCh38] Chr6:90648049 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.963G>A (p.Thr321=) |
single nucleotide variant |
not provided [RCV002625995] |
Chr6:89951143 [GRCh38] Chr6:90660862 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.243+5A>G |
single nucleotide variant |
not provided [RCV002595035] |
Chr6:90008597 [GRCh38] Chr6:90718316 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1935G>A (p.Glu645=) |
single nucleotide variant |
not provided [RCV002852078] |
Chr6:89938252 [GRCh38] Chr6:90647971 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1525C>T (p.Arg509Cys) |
single nucleotide variant |
not provided [RCV002667843] |
Chr6:89950581 [GRCh38] Chr6:90660300 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2321C>T (p.Ala774Val) |
single nucleotide variant |
not provided [RCV003082859] |
Chr6:89932613 [GRCh38] Chr6:90642332 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.961A>C (p.Thr321Pro) |
single nucleotide variant |
not specified [RCV004231488] |
Chr6:89951145 [GRCh38] Chr6:90660864 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1382C>T (p.Pro461Leu) |
single nucleotide variant |
not provided [RCV003085032]|not specified [RCV004073257] |
Chr6:89950724 [GRCh38] Chr6:90660443 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.154C>A (p.Arg52=) |
single nucleotide variant |
not provided [RCV003024658] |
Chr6:90008691 [GRCh38] Chr6:90718410 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.727T>C (p.Tyr243His) |
single nucleotide variant |
not provided [RCV003059444] |
Chr6:89951379 [GRCh38] Chr6:90661098 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1411G>C (p.Gly471Arg) |
single nucleotide variant |
not provided [RCV002667296] |
Chr6:89950695 [GRCh38] Chr6:90660414 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.24C>T (p.Asp8=) |
single nucleotide variant |
not provided [RCV003057620] |
Chr6:90008821 [GRCh38] Chr6:90718540 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2182C>T (p.Arg728Trp) |
single nucleotide variant |
not provided [RCV002595794] |
Chr6:89932752 [GRCh38] Chr6:90642471 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2469C>T (p.Cys823=) |
single nucleotide variant |
not provided [RCV003057717] |
Chr6:89932465 [GRCh38] Chr6:90642184 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.818G>C (p.Gly273Ala) |
single nucleotide variant |
not provided [RCV003046225] |
Chr6:89951288 [GRCh38] Chr6:90661007 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.524C>T (p.Thr175Met) |
single nucleotide variant |
not provided [RCV002651293] |
Chr6:89951582 [GRCh38] Chr6:90661301 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1043C>T (p.Thr348Met) |
single nucleotide variant |
not provided [RCV002633107] |
Chr6:89951063 [GRCh38] Chr6:90660782 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.482G>A (p.Gly161Glu) |
single nucleotide variant |
not provided [RCV002580197] |
Chr6:89951624 [GRCh38] Chr6:90661343 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2339_2349del (p.Pro780fs) |
deletion |
not provided [RCV002721221] |
Chr6:89932585..89932595 [GRCh38] Chr6:90642304..90642314 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2263A>C (p.Ile755Leu) |
single nucleotide variant |
not specified [RCV004135147] |
Chr6:89932671 [GRCh38] Chr6:90642390 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2199C>G (p.Leu733=) |
single nucleotide variant |
not provided [RCV002938777] |
Chr6:89932735 [GRCh38] Chr6:90642454 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.163C>T (p.Leu55=) |
single nucleotide variant |
not provided [RCV002581787] |
Chr6:90008682 [GRCh38] Chr6:90718401 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1534C>A (p.Pro512Thr) |
single nucleotide variant |
Primary ciliary dyskinesia 3 [RCV003234804]|not provided [RCV002581703]|not specified [RCV004073357] |
Chr6:89950572 [GRCh38] Chr6:90660291 [GRCh37] Chr6:6q15 |
pathogenic|uncertain significance |
NM_021813.4(BACH2):c.2136A>G (p.Glu712=) |
single nucleotide variant |
not provided [RCV002834271] |
Chr6:89932798 [GRCh38] Chr6:90642517 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.28C>T (p.Pro10Ser) |
single nucleotide variant |
not provided [RCV003046672] |
Chr6:90008817 [GRCh38] Chr6:90718536 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2027G>A (p.Cys676Tyr) |
single nucleotide variant |
not provided [RCV002578194]|not specified [RCV004064528] |
Chr6:89938160 [GRCh38] Chr6:90647879 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.350G>A (p.Arg117His) |
single nucleotide variant |
not provided [RCV002672139] |
Chr6:89951756 [GRCh38] Chr6:90661475 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.838C>A (p.Pro280Thr) |
single nucleotide variant |
not provided [RCV002671631] |
Chr6:89951268 [GRCh38] Chr6:90660987 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2048G>A (p.Cys683Tyr) |
single nucleotide variant |
not provided [RCV002715205] |
Chr6:89932886 [GRCh38] Chr6:90642605 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.912G>A (p.Ala304=) |
single nucleotide variant |
not provided [RCV003087334] |
Chr6:89951194 [GRCh38] Chr6:90660913 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.913G>A (p.Gly305Arg) |
single nucleotide variant |
not provided [RCV002938449] |
Chr6:89951193 [GRCh38] Chr6:90660912 [GRCh37] Chr6:6q15 |
likely benign|uncertain significance |
NM_021813.4(BACH2):c.1935G>T (p.Glu645Asp) |
single nucleotide variant |
not provided [RCV002647568] |
Chr6:89938252 [GRCh38] Chr6:90647971 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2366A>C (p.Asn789Thr) |
single nucleotide variant |
not provided [RCV002628618]|not specified [RCV004070718] |
Chr6:89932568 [GRCh38] Chr6:90642287 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.897C>T (p.Asp299=) |
single nucleotide variant |
not provided [RCV003086076] |
Chr6:89951209 [GRCh38] Chr6:90660928 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1402G>T (p.Val468Leu) |
single nucleotide variant |
BACH2-related disorder [RCV003403927]|not provided [RCV002811784] |
Chr6:89950704 [GRCh38] Chr6:90660423 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1219A>G (p.Met407Val) |
single nucleotide variant |
not provided [RCV002811208] |
Chr6:89950887 [GRCh38] Chr6:90660606 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.625G>A (p.Glu209Lys) |
single nucleotide variant |
not provided [RCV002675993]|not specified [RCV004887697] |
Chr6:89951481 [GRCh38] Chr6:90661200 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.946C>T (p.Pro316Ser) |
single nucleotide variant |
not provided [RCV002717174] |
Chr6:89951160 [GRCh38] Chr6:90660879 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1837-5T>A |
single nucleotide variant |
not provided [RCV003029414] |
Chr6:89938355 [GRCh38] Chr6:90648074 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1325G>A (p.Ser442Asn) |
single nucleotide variant |
not provided [RCV002604324] |
Chr6:89950781 [GRCh38] Chr6:90660500 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2044-4C>T |
single nucleotide variant |
not provided [RCV003052035] |
Chr6:89932894 [GRCh38] Chr6:90642613 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2340C>T (p.Pro780=) |
single nucleotide variant |
not provided [RCV002653849] |
Chr6:89932594 [GRCh38] Chr6:90642313 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.320G>A (p.Arg107His) |
single nucleotide variant |
not provided [RCV002658314] |
Chr6:89951786 [GRCh38] Chr6:90661505 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.418C>G (p.Leu140Val) |
single nucleotide variant |
not provided [RCV002944255] |
Chr6:89951688 [GRCh38] Chr6:90661407 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.677C>T (p.Thr226Met) |
single nucleotide variant |
not provided [RCV002610240] |
Chr6:89951429 [GRCh38] Chr6:90661148 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.922G>A (p.Glu308Lys) |
single nucleotide variant |
not provided [RCV002604228] |
Chr6:89951184 [GRCh38] Chr6:90660903 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2044-7T>C |
single nucleotide variant |
not provided [RCV002613109] |
Chr6:89932897 [GRCh38] Chr6:90642616 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1189G>C (p.Val397Leu) |
single nucleotide variant |
not provided [RCV002587885]|not specified [RCV004614363] |
Chr6:89950917 [GRCh38] Chr6:90660636 [GRCh37] Chr6:6q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021813.4(BACH2):c.979G>A (p.Ala327Thr) |
single nucleotide variant |
not provided [RCV002612359] |
Chr6:89951127 [GRCh38] Chr6:90660846 [GRCh37] Chr6:6q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_021813.4(BACH2):c.2458G>C (p.Val820Leu) |
single nucleotide variant |
not specified [RCV004131625] |
Chr6:89932476 [GRCh38] Chr6:90642195 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2338C>T (p.Pro780Ser) |
single nucleotide variant |
not specified [RCV004280505] |
Chr6:89932596 [GRCh38] Chr6:90642315 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.140A>C (p.Glu47Ala) |
single nucleotide variant |
not specified [RCV004327097] |
Chr6:90008705 [GRCh38] Chr6:90718424 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1134G>C (p.Gln378His) |
single nucleotide variant |
Immunodeficiency 60 [RCV003142244]|not provided [RCV005099288] |
Chr6:89950972 [GRCh38] Chr6:90660691 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.801G>T (p.Lys267Asn) |
single nucleotide variant |
Immunodeficiency 60 [RCV003142417] |
Chr6:89951305 [GRCh38] Chr6:90661024 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1043C>A (p.Thr348Lys) |
single nucleotide variant |
not specified [RCV004270510] |
Chr6:89951063 [GRCh38] Chr6:90660782 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2416G>C (p.Glu806Gln) |
single nucleotide variant |
Immunodeficiency 60 [RCV003448823] |
Chr6:89932518 [GRCh38] Chr6:90642237 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.124A>G (p.Ile42Val) |
single nucleotide variant |
not provided [RCV003872633] |
Chr6:90008721 [GRCh38] Chr6:90718440 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1427G>T (p.Ser476Ile) |
single nucleotide variant |
Immunodeficiency 60 [RCV003333825]|not provided [RCV003720850]|not specified [RCV004334120] |
Chr6:89950679 [GRCh38] Chr6:90660398 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1354A>G (p.Ser452Gly) |
single nucleotide variant |
not specified [RCV004358116] |
Chr6:89950752 [GRCh38] Chr6:90660471 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.870G>A (p.Thr290=) |
single nucleotide variant |
not provided [RCV003569450] |
Chr6:89951236 [GRCh38] Chr6:90660955 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2326C>G (p.Pro776Ala) |
single nucleotide variant |
not provided [RCV003873036] |
Chr6:89932608 [GRCh38] Chr6:90642327 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1394_1402del (p.Gly465_Trp467del) |
deletion |
not provided [RCV003543700] |
Chr6:89950704..89950712 [GRCh38] Chr6:90660423..90660431 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1122G>A (p.Lys374=) |
single nucleotide variant |
not provided [RCV003875652] |
Chr6:89950984 [GRCh38] Chr6:90660703 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1669C>A (p.Leu557Ile) |
single nucleotide variant |
not provided [RCV003571128] |
Chr6:89950437 [GRCh38] Chr6:90660156 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2289G>A (p.Gly763=) |
single nucleotide variant |
not provided [RCV003712579] |
Chr6:89932645 [GRCh38] Chr6:90642364 [GRCh37] Chr6:6q15 |
likely benign |
GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1 |
copy number loss |
not provided [RCV003482926] |
Chr6:88018122..94565168 [GRCh37] Chr6:6q15-16.1 |
pathogenic |
GRCh37/hg19 6q15(chr6:90774790-91298146)x3 |
copy number gain |
not provided [RCV003484644] |
Chr6:90774790..91298146 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.909A>G (p.Arg303=) |
single nucleotide variant |
not provided [RCV003431955] |
Chr6:89951197 [GRCh38] Chr6:90660916 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1411G>A (p.Gly471Ser) |
single nucleotide variant |
BACH2-related disorder [RCV003399837]|not provided [RCV003778201] |
Chr6:89950695 [GRCh38] Chr6:90660414 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1629T>C (p.Cys543=) |
single nucleotide variant |
not provided [RCV003428899] |
Chr6:89950477 [GRCh38] Chr6:90660196 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.-13+50T>C |
single nucleotide variant |
not specified [RCV003489015] |
Chr6:90088911 [GRCh38] Chr6:90798630 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.2043+104C>G |
single nucleotide variant |
not specified [RCV003391184] |
Chr6:89938040 [GRCh38] Chr6:90647759 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1980C>T (p.Ala660=) |
single nucleotide variant |
not provided [RCV003428898] |
Chr6:89938207 [GRCh38] Chr6:90647926 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.215A>C (p.Asn72Thr) |
single nucleotide variant |
not provided [RCV003431957] |
Chr6:90008630 [GRCh38] Chr6:90718349 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.644A>C (p.Asp215Ala) |
single nucleotide variant |
not provided [RCV003431956] |
Chr6:89951462 [GRCh38] Chr6:90661181 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.931C>T (p.Arg311Trp) |
single nucleotide variant |
BACH2-related disorder [RCV003414137]|not provided [RCV003778199] |
Chr6:89951175 [GRCh38] Chr6:90660894 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.837G>A (p.Pro279=) |
single nucleotide variant |
not provided [RCV003828338] |
Chr6:89951269 [GRCh38] Chr6:90660988 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.230G>C (p.Ser77Thr) |
single nucleotide variant |
not provided [RCV003829931]|not specified [RCV004366826] |
Chr6:90008615 [GRCh38] Chr6:90718334 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.878T>G (p.Leu293Arg) |
single nucleotide variant |
not provided [RCV003716410] |
Chr6:89951228 [GRCh38] Chr6:90660947 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2386C>G (p.Leu796Val) |
single nucleotide variant |
not provided [RCV003849191] |
Chr6:89932548 [GRCh38] Chr6:90642267 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1785G>A (p.Ser595=) |
single nucleotide variant |
not provided [RCV003827907] |
Chr6:89950321 [GRCh38] Chr6:90660040 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.746G>A (p.Ser249Asn) |
single nucleotide variant |
not provided [RCV003824502] |
Chr6:89951360 [GRCh38] Chr6:90661079 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1578T>C (p.Tyr526=) |
single nucleotide variant |
not provided [RCV003572918] |
Chr6:89950528 [GRCh38] Chr6:90660247 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.678G>A (p.Thr226=) |
single nucleotide variant |
not provided [RCV003879041] |
Chr6:89951428 [GRCh38] Chr6:90661147 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1153T>G (p.Tyr385Asp) |
single nucleotide variant |
not provided [RCV003573033] |
Chr6:89950953 [GRCh38] Chr6:90660672 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1530A>C (p.Ser510=) |
single nucleotide variant |
not provided [RCV003690951] |
Chr6:89950576 [GRCh38] Chr6:90660295 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2411T>C (p.Phe804Ser) |
single nucleotide variant |
not provided [RCV003661409] |
Chr6:89932523 [GRCh38] Chr6:90642242 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2505G>A (p.Gln835=) |
single nucleotide variant |
not provided [RCV003549109]|not specified [RCV003489589] |
Chr6:89932429 [GRCh38] Chr6:90642148 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1371C>G (p.Asp457Glu) |
single nucleotide variant |
not provided [RCV003738723] |
Chr6:89950735 [GRCh38] Chr6:90660454 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1170G>T (p.Gly390=) |
single nucleotide variant |
not provided [RCV003544661] |
Chr6:89950936 [GRCh38] Chr6:90660655 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1059G>A (p.Leu353=) |
single nucleotide variant |
not provided [RCV003544692] |
Chr6:89951047 [GRCh38] Chr6:90660766 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.-13+26030T>G |
single nucleotide variant |
not specified [RCV003489251] |
Chr6:90062931 [GRCh38] Chr6:90772650 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.2191C>T (p.Pro731Ser) |
single nucleotide variant |
not provided [RCV003877939] |
Chr6:89932743 [GRCh38] Chr6:90642462 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1352T>C (p.Val451Ala) |
single nucleotide variant |
not provided [RCV003545235] |
Chr6:89950754 [GRCh38] Chr6:90660473 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.146G>C (p.Arg49Pro) |
single nucleotide variant |
not provided [RCV003543985] |
Chr6:90008699 [GRCh38] Chr6:90718418 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1778C>A (p.Ser593Tyr) |
single nucleotide variant |
not provided [RCV003695243] |
Chr6:89950328 [GRCh38] Chr6:90660047 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.586G>A (p.Ala196Thr) |
single nucleotide variant |
not provided [RCV003739740] |
Chr6:89951520 [GRCh38] Chr6:90661239 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.240G>A (p.Glu80=) |
single nucleotide variant |
not provided [RCV003880454] |
Chr6:90008605 [GRCh38] Chr6:90718324 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2511G>A (p.Arg837=) |
single nucleotide variant |
not provided [RCV003713580] |
Chr6:89932423 [GRCh38] Chr6:90642142 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2323G>A (p.Ala775Thr) |
single nucleotide variant |
not provided [RCV003686652] |
Chr6:89932611 [GRCh38] Chr6:90642330 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2424A>G (p.Gly808=) |
single nucleotide variant |
not provided [RCV003574581] |
Chr6:89932510 [GRCh38] Chr6:90642229 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.309A>T (p.Arg103Ser) |
single nucleotide variant |
not provided [RCV003693022] |
Chr6:89951797 [GRCh38] Chr6:90661516 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1815T>G (p.Pro605=) |
single nucleotide variant |
not provided [RCV003572624] |
Chr6:89950291 [GRCh38] Chr6:90660010 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2039A>G (p.Lys680Arg) |
single nucleotide variant |
not provided [RCV003661669] |
Chr6:89938148 [GRCh38] Chr6:90647867 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1726C>G (p.Arg576Gly) |
single nucleotide variant |
not provided [RCV003547828] |
Chr6:89950380 [GRCh38] Chr6:90660099 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.595G>A (p.Val199Ile) |
single nucleotide variant |
not provided [RCV003882129] |
Chr6:89951511 [GRCh38] Chr6:90661230 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1836+12A>C |
single nucleotide variant |
not provided [RCV003693728] |
Chr6:89950258 [GRCh38] Chr6:90659977 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1948G>A (p.Val650Ile) |
single nucleotide variant |
not provided [RCV003693744] |
Chr6:89938239 [GRCh38] Chr6:90647958 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.974G>A (p.Gly325Glu) |
single nucleotide variant |
not provided [RCV003545762] |
Chr6:89951132 [GRCh38] Chr6:90660851 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1444C>T (p.His482Tyr) |
single nucleotide variant |
not provided [RCV003575598] |
Chr6:89950662 [GRCh38] Chr6:90660381 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1206G>A (p.Val402=) |
single nucleotide variant |
not provided [RCV003826055] |
Chr6:89950900 [GRCh38] Chr6:90660619 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2445C>T (p.Ser815=) |
single nucleotide variant |
not provided [RCV003545178] |
Chr6:89932489 [GRCh38] Chr6:90642208 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2339C>T (p.Pro780Leu) |
single nucleotide variant |
not provided [RCV003824446] |
Chr6:89932595 [GRCh38] Chr6:90642314 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2228G>C (p.Ser743Thr) |
single nucleotide variant |
not provided [RCV003878275] |
Chr6:89932706 [GRCh38] Chr6:90642425 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2235C>T (p.Asn745=) |
single nucleotide variant |
not provided [RCV003835815] |
Chr6:89932699 [GRCh38] Chr6:90642418 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1032G>C (p.Leu344=) |
single nucleotide variant |
not provided [RCV003697680] |
Chr6:89951074 [GRCh38] Chr6:90660793 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.963G>T (p.Thr321=) |
single nucleotide variant |
not provided [RCV003672607] |
Chr6:89951143 [GRCh38] Chr6:90660862 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1913A>G (p.Lys638Arg) |
single nucleotide variant |
not provided [RCV003839186] |
Chr6:89938274 [GRCh38] Chr6:90647993 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1304C>T (p.Ser435Phe) |
single nucleotide variant |
not provided [RCV003697636] |
Chr6:89950802 [GRCh38] Chr6:90660521 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.340G>C (p.Glu114Gln) |
single nucleotide variant |
not provided [RCV003561628] |
Chr6:89951766 [GRCh38] Chr6:90661485 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1885G>A (p.Asp629Asn) |
single nucleotide variant |
not provided [RCV003815906] |
Chr6:89938302 [GRCh38] Chr6:90648021 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.782A>G (p.Asn261Ser) |
single nucleotide variant |
not provided [RCV003838861] |
Chr6:89951324 [GRCh38] Chr6:90661043 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1536C>T (p.Pro512=) |
single nucleotide variant |
not provided [RCV003671505] |
Chr6:89950570 [GRCh38] Chr6:90660289 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.932G>A (p.Arg311Gln) |
single nucleotide variant |
not provided [RCV003559190]|not specified [RCV004604969] |
Chr6:89951174 [GRCh38] Chr6:90660893 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1348G>T (p.Gly450Trp) |
single nucleotide variant |
not provided [RCV003836815] |
Chr6:89950758 [GRCh38] Chr6:90660477 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2331dup (p.Gly778fs) |
duplication |
not provided [RCV003817550] |
Chr6:89932602..89932603 [GRCh38] Chr6:90642321..90642322 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1021T>C (p.Leu341=) |
single nucleotide variant |
not provided [RCV003671081] |
Chr6:89951085 [GRCh38] Chr6:90660804 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1375T>C (p.Ser459Pro) |
single nucleotide variant |
not provided [RCV003811738] |
Chr6:89950731 [GRCh38] Chr6:90660450 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.959C>G (p.Pro320Arg) |
single nucleotide variant |
not provided [RCV003835750] |
Chr6:89951147 [GRCh38] Chr6:90660866 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2175C>A (p.Ala725=) |
single nucleotide variant |
not provided [RCV003659282] |
Chr6:89932759 [GRCh38] Chr6:90642478 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1560C>T (p.Ser520=) |
single nucleotide variant |
not provided [RCV003699790] |
Chr6:89950546 [GRCh38] Chr6:90660265 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.584C>T (p.Ala195Val) |
single nucleotide variant |
not provided [RCV003671644] |
Chr6:89951522 [GRCh38] Chr6:90661241 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.267G>A (p.Pro89=) |
single nucleotide variant |
not provided [RCV003842670] |
Chr6:89951839 [GRCh38] Chr6:90661558 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.305G>A (p.Ser102Asn) |
single nucleotide variant |
not provided [RCV003845792] |
Chr6:89951801 [GRCh38] Chr6:90661520 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.254G>C (p.Arg85Thr) |
single nucleotide variant |
not provided [RCV003732779] |
Chr6:89951852 [GRCh38] Chr6:90661571 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.388C>A (p.Gln130Lys) |
single nucleotide variant |
not provided [RCV003857193] |
Chr6:89951718 [GRCh38] Chr6:90661437 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.921C>T (p.Val307=) |
single nucleotide variant |
not provided [RCV003861825] |
Chr6:89951185 [GRCh38] Chr6:90660904 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.773G>A (p.Arg258Gln) |
single nucleotide variant |
not provided [RCV003819927]|not specified [RCV004366749] |
Chr6:89951333 [GRCh38] Chr6:90661052 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.943A>G (p.Ser315Gly) |
single nucleotide variant |
not provided [RCV003677899] |
Chr6:89951163 [GRCh38] Chr6:90660882 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1227G>A (p.Ser409=) |
single nucleotide variant |
not provided [RCV003858838] |
Chr6:89950879 [GRCh38] Chr6:90660598 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2337C>A (p.Pro779=) |
single nucleotide variant |
not provided [RCV003704483] |
Chr6:89932597 [GRCh38] Chr6:90642316 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.408T>C (p.Ser136=) |
single nucleotide variant |
not provided [RCV003852971] |
Chr6:89951698 [GRCh38] Chr6:90661417 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1970G>T (p.Arg657Leu) |
single nucleotide variant |
not provided [RCV003542025] |
Chr6:89938217 [GRCh38] Chr6:90647936 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1848T>C (p.Pro616=) |
single nucleotide variant |
not provided [RCV003728144] |
Chr6:89938339 [GRCh38] Chr6:90648058 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.530A>G (p.Lys177Arg) |
single nucleotide variant |
not provided [RCV003729483] |
Chr6:89951576 [GRCh38] Chr6:90661295 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1105G>C (p.Ala369Pro) |
single nucleotide variant |
not provided [RCV003680704] |
Chr6:89951001 [GRCh38] Chr6:90660720 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1732C>A (p.Gln578Lys) |
single nucleotide variant |
not provided [RCV003712170] |
Chr6:89950374 [GRCh38] Chr6:90660093 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.914G>A (p.Gly305Glu) |
single nucleotide variant |
not provided [RCV003856986] |
Chr6:89951192 [GRCh38] Chr6:90660911 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.979G>C (p.Ala327Pro) |
single nucleotide variant |
not provided [RCV003711013] |
Chr6:89951127 [GRCh38] Chr6:90660846 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1427G>A (p.Ser476Asn) |
single nucleotide variant |
not provided [RCV003861060] |
Chr6:89950679 [GRCh38] Chr6:90660398 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2522C>G (p.Thr841Ser) |
single nucleotide variant |
not provided [RCV003737192] |
Chr6:89932412 [GRCh38] Chr6:90642131 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.835C>A (p.Pro279Thr) |
single nucleotide variant |
not provided [RCV003685280] |
Chr6:89951271 [GRCh38] Chr6:90660990 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.803C>T (p.Pro268Leu) |
single nucleotide variant |
not provided [RCV003737482] |
Chr6:89951303 [GRCh38] Chr6:90661022 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.590T>A (p.Ile197Asn) |
single nucleotide variant |
not provided [RCV003866886] |
Chr6:89951516 [GRCh38] Chr6:90661235 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
not provided [RCV003869385] |
Chr6:89951250 [GRCh38] Chr6:90660969 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1308C>T (p.Ser436=) |
single nucleotide variant |
not provided [RCV003841015] |
Chr6:89950798 [GRCh38] Chr6:90660517 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.736TCA[1] (p.Ser247del) |
microsatellite |
not provided [RCV003566949] |
Chr6:89951365..89951367 [GRCh38] Chr6:90661084..90661086 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.372C>T (p.Ser124=) |
single nucleotide variant |
not provided [RCV003721340] |
Chr6:89951734 [GRCh38] Chr6:90661453 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1994A>G (p.Lys665Arg) |
single nucleotide variant |
not provided [RCV003711419] |
Chr6:89938193 [GRCh38] Chr6:90647912 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.498A>G (p.Glu166=) |
single nucleotide variant |
not provided [RCV003557348] |
Chr6:89951608 [GRCh38] Chr6:90661327 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1259G>C (p.Cys420Ser) |
single nucleotide variant |
not provided [RCV003869874] |
Chr6:89950847 [GRCh38] Chr6:90660566 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2301C>G (p.Pro767=) |
single nucleotide variant |
not provided [RCV003682552] |
Chr6:89932633 [GRCh38] Chr6:90642352 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.621G>T (p.Leu207=) |
single nucleotide variant |
not provided [RCV003853234] |
Chr6:89951485 [GRCh38] Chr6:90661204 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2144G>A (p.Arg715Gln) |
single nucleotide variant |
not provided [RCV003720487] |
Chr6:89932790 [GRCh38] Chr6:90642509 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15(chr6:90131062-90675512)x3 |
copy number gain |
not specified [RCV003986672] |
Chr6:90131062..90675512 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.171A>G (p.Ala57=) |
single nucleotide variant |
not provided [RCV003862195] |
Chr6:90008674 [GRCh38] Chr6:90718393 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.781A>G (p.Asn261Asp) |
single nucleotide variant |
not provided [RCV003843136] |
Chr6:89951325 [GRCh38] Chr6:90661044 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1294A>G (p.Ile432Val) |
single nucleotide variant |
not provided [RCV003705318]|not specified [RCV004887734] |
Chr6:89950812 [GRCh38] Chr6:90660531 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.631G>A (p.Asp211Asn) |
single nucleotide variant |
not provided [RCV003563608] |
Chr6:89951475 [GRCh38] Chr6:90661194 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1420C>G (p.Leu474Val) |
single nucleotide variant |
not provided [RCV003846940] |
Chr6:89950686 [GRCh38] Chr6:90660405 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.594C>T (p.Pro198=) |
single nucleotide variant |
not provided [RCV003843712] |
Chr6:89951512 [GRCh38] Chr6:90661231 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1499G>T (p.Cys500Phe) |
single nucleotide variant |
not provided [RCV003680265] |
Chr6:89950607 [GRCh38] Chr6:90660326 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2043+11C>T |
single nucleotide variant |
not provided [RCV003843800] |
Chr6:89938133 [GRCh38] Chr6:90647852 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.742C>G (p.His248Asp) |
single nucleotide variant |
not specified [RCV004423703] |
Chr6:89951364 [GRCh38] Chr6:90661083 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.589A>G (p.Ile197Val) |
single nucleotide variant |
BACH2-related disorder [RCV003907281] |
Chr6:89951517 [GRCh38] Chr6:90661236 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1481T>C (p.Met494Thr) |
single nucleotide variant |
not specified [RCV004423701] |
Chr6:89950625 [GRCh38] Chr6:90660344 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.*10T>A |
single nucleotide variant |
BACH2-related disorder [RCV003937364] |
Chr6:89932398 [GRCh38] Chr6:90642117 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.*7G>A |
single nucleotide variant |
BACH2-related disorder [RCV003924273] |
Chr6:89932401 [GRCh38] Chr6:90642120 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.969A>C (p.Pro323=) |
single nucleotide variant |
BACH2-related disorder [RCV003913840] |
Chr6:89951137 [GRCh38] Chr6:90660856 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1009T>C (p.Ser337Pro) |
single nucleotide variant |
BACH2-related disorder [RCV003901523] |
Chr6:89951097 [GRCh38] Chr6:90660816 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1649G>T (p.Cys550Phe) |
single nucleotide variant |
Immunodeficiency 60 [RCV004566608] |
Chr6:89950457 [GRCh38] Chr6:90660176 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1760C>A (p.Thr587Asn) |
single nucleotide variant |
not specified [RCV004606925] |
Chr6:89950346 [GRCh38] Chr6:90660065 [GRCh37] Chr6:6q15 |
uncertain significance |
NC_000006.11:g.(?_90518279)_(91296602_?)del |
deletion |
not provided [RCV004578882] |
Chr6:90518279..91296602 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1475G>T (p.Gly492Val) |
single nucleotide variant |
not provided [RCV005059603]|not specified [RCV004603739] |
Chr6:89950631 [GRCh38] Chr6:90660350 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1512C>G (p.Ile504Met) |
single nucleotide variant |
not specified [RCV004603718] |
Chr6:89950594 [GRCh38] Chr6:90660313 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.655A>G (p.Ser219Gly) |
single nucleotide variant |
not specified [RCV004886107] |
Chr6:89951451 [GRCh38] Chr6:90661170 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1015T>C (p.Ser339Pro) |
single nucleotide variant |
not specified [RCV004886081] |
Chr6:89951091 [GRCh38] Chr6:90660810 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.83A>G (p.Asn28Ser) |
single nucleotide variant |
not specified [RCV004886097] |
Chr6:90008762 [GRCh38] Chr6:90718481 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.536C>T (p.Ala179Val) |
single nucleotide variant |
not specified [RCV004886128] |
Chr6:89951570 [GRCh38] Chr6:90661289 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.534G>T (p.Met178Ile) |
single nucleotide variant |
not specified [RCV004886117] |
Chr6:89951572 [GRCh38] Chr6:90661291 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.56A>T (p.His19Leu) |
single nucleotide variant |
not specified [RCV004886090] |
Chr6:90008789 [GRCh38] Chr6:90718508 [GRCh37] Chr6:6q15 |
uncertain significance |
GRCh37/hg19 6q15(chr6:90813117-91709556)x3 |
copy number gain |
not provided [RCV004819507] |
Chr6:90813117..91709556 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1431G>T (p.Ser477=) |
single nucleotide variant |
not provided [RCV005147873] |
Chr6:89950675 [GRCh38] Chr6:90660394 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.748A>C (p.Thr250Pro) |
single nucleotide variant |
not provided [RCV005175489] |
Chr6:89951358 [GRCh38] Chr6:90661077 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.444G>T (p.Ala148=) |
single nucleotide variant |
not provided [RCV005170373] |
Chr6:89951662 [GRCh38] Chr6:90661381 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1227G>T (p.Ser409=) |
single nucleotide variant |
not provided [RCV005173947] |
Chr6:89950879 [GRCh38] Chr6:90660598 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1313G>A (p.Cys438Tyr) |
single nucleotide variant |
not provided [RCV005178098] |
Chr6:89950793 [GRCh38] Chr6:90660512 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.244-20T>C |
single nucleotide variant |
not provided [RCV005130587] |
Chr6:89951882 [GRCh38] Chr6:90661601 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.315C>T (p.Asn105=) |
single nucleotide variant |
not provided [RCV005132852] |
Chr6:89951791 [GRCh38] Chr6:90661510 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2066T>G (p.Leu689Trp) |
single nucleotide variant |
not provided [RCV005117130] |
Chr6:89932868 [GRCh38] Chr6:90642587 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.113A>G (p.Asp38Gly) |
single nucleotide variant |
not provided [RCV005122201] |
Chr6:90008732 [GRCh38] Chr6:90718451 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1582T>A (p.Tyr528Asn) |
single nucleotide variant |
not provided [RCV005127080] |
Chr6:89950524 [GRCh38] Chr6:90660243 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.346C>T (p.Leu116=) |
single nucleotide variant |
not provided [RCV005156156] |
Chr6:89951760 [GRCh38] Chr6:90661479 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1286G>A (p.Arg429Lys) |
single nucleotide variant |
not provided [RCV005121038] |
Chr6:89950820 [GRCh38] Chr6:90660539 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1531C>T (p.Pro511Ser) |
single nucleotide variant |
not provided [RCV005160360] |
Chr6:89950575 [GRCh38] Chr6:90660294 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.644A>G (p.Asp215Gly) |
single nucleotide variant |
not provided [RCV005178233] |
Chr6:89951462 [GRCh38] Chr6:90661181 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2125C>G (p.Leu709Val) |
single nucleotide variant |
not provided [RCV005151493] |
Chr6:89932809 [GRCh38] Chr6:90642528 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2339C>G (p.Pro780Arg) |
single nucleotide variant |
not provided [RCV005192846] |
Chr6:89932595 [GRCh38] Chr6:90642314 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2257C>G (p.Gln753Glu) |
single nucleotide variant |
not provided [RCV005159081] |
Chr6:89932677 [GRCh38] Chr6:90642396 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.708T>A (p.Leu236=) |
single nucleotide variant |
not provided [RCV005203344] |
Chr6:89951398 [GRCh38] Chr6:90661117 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1744G>A (p.Glu582Lys) |
single nucleotide variant |
not provided [RCV005074807] |
Chr6:89950362 [GRCh38] Chr6:90660081 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1268A>T (p.Glu423Val) |
single nucleotide variant |
not provided [RCV005185455] |
Chr6:89950838 [GRCh38] Chr6:90660557 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.36T>C (p.Tyr12=) |
single nucleotide variant |
not provided [RCV005074107] |
Chr6:90008809 [GRCh38] Chr6:90718528 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2212T>C (p.Leu738=) |
single nucleotide variant |
not provided [RCV005116390] |
Chr6:89932722 [GRCh38] Chr6:90642441 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1442C>A (p.Ser481Tyr) |
single nucleotide variant |
not provided [RCV005131479] |
Chr6:89950664 [GRCh38] Chr6:90660383 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2082A>G (p.Gln694=) |
single nucleotide variant |
not provided [RCV005081543] |
Chr6:89932852 [GRCh38] Chr6:90642571 [GRCh37] Chr6:6q15 |
benign |
NM_021813.4(BACH2):c.1283G>A (p.Arg428Gln) |
single nucleotide variant |
not provided [RCV005077707] |
Chr6:89950823 [GRCh38] Chr6:90660542 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.650A>C (p.Lys217Thr) |
single nucleotide variant |
not provided [RCV005168705] |
Chr6:89951456 [GRCh38] Chr6:90661175 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2485A>T (p.Lys829Ter) |
single nucleotide variant |
not provided [RCV005149390] |
Chr6:89932449 [GRCh38] Chr6:90642168 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.342G>A (p.Glu114=) |
single nucleotide variant |
not provided [RCV005144299] |
Chr6:89951764 [GRCh38] Chr6:90661483 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.946C>A (p.Pro316Thr) |
single nucleotide variant |
not provided [RCV005084440] |
Chr6:89951160 [GRCh38] Chr6:90660879 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1706A>G (p.Asp569Gly) |
single nucleotide variant |
not provided [RCV005137004] |
Chr6:89950400 [GRCh38] Chr6:90660119 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2184G>A (p.Arg728=) |
single nucleotide variant |
not provided [RCV005167183] |
Chr6:89932750 [GRCh38] Chr6:90642469 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1417T>C (p.Ser473Pro) |
single nucleotide variant |
not provided [RCV005169374] |
Chr6:89950689 [GRCh38] Chr6:90660408 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.681G>A (p.Gln227=) |
single nucleotide variant |
not provided [RCV005162525] |
Chr6:89951425 [GRCh38] Chr6:90661144 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2417A>G (p.Glu806Gly) |
single nucleotide variant |
not provided [RCV005076752] |
Chr6:89932517 [GRCh38] Chr6:90642236 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.319C>T (p.Arg107Cys) |
single nucleotide variant |
not provided [RCV005166822] |
Chr6:89951787 [GRCh38] Chr6:90661506 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.10G>T (p.Asp4Tyr) |
single nucleotide variant |
not provided [RCV005132036] |
Chr6:90008835 [GRCh38] Chr6:90718554 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.958C>T (p.Pro320Ser) |
single nucleotide variant |
not provided [RCV005186316] |
Chr6:89951148 [GRCh38] Chr6:90660867 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.41A>G (p.Tyr14Cys) |
single nucleotide variant |
not provided [RCV005119929] |
Chr6:90008804 [GRCh38] Chr6:90718523 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1188C>T (p.His396=) |
single nucleotide variant |
not provided [RCV005136806] |
Chr6:89950918 [GRCh38] Chr6:90660637 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.828A>T (p.Lys276Asn) |
single nucleotide variant |
not provided [RCV005160282] |
Chr6:89951278 [GRCh38] Chr6:90660997 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.669C>T (p.Asp223=) |
single nucleotide variant |
not provided [RCV005160901] |
Chr6:89951437 [GRCh38] Chr6:90661156 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.492G>T (p.Glu164Asp) |
single nucleotide variant |
not provided [RCV005137929] |
Chr6:89951614 [GRCh38] Chr6:90661333 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2186A>G (p.Tyr729Cys) |
single nucleotide variant |
not provided [RCV005139925] |
Chr6:89932748 [GRCh38] Chr6:90642467 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1124G>A (p.Gly375Glu) |
single nucleotide variant |
not provided [RCV005166553] |
Chr6:89950982 [GRCh38] Chr6:90660701 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1920C>T (p.Thr640=) |
single nucleotide variant |
not provided [RCV005162957] |
Chr6:89938267 [GRCh38] Chr6:90647986 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2379GAG[1] (p.Arg795del) |
microsatellite |
not provided [RCV005164823] |
Chr6:89932550..89932552 [GRCh38] Chr6:90642269..90642271 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2256G>A (p.Glu752=) |
single nucleotide variant |
not provided [RCV005135586] |
Chr6:89932678 [GRCh38] Chr6:90642397 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.609A>G (p.Glu203=) |
single nucleotide variant |
not provided [RCV005188817] |
Chr6:89951497 [GRCh38] Chr6:90661216 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.995C>A (p.Ser332Tyr) |
single nucleotide variant |
not provided [RCV005164882] |
Chr6:89951111 [GRCh38] Chr6:90660830 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.376T>C (p.Phe126Leu) |
single nucleotide variant |
not provided [RCV005140988] |
Chr6:89951730 [GRCh38] Chr6:90661449 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2352C>G (p.Ser784Arg) |
single nucleotide variant |
not provided [RCV005073383] |
Chr6:89932582 [GRCh38] Chr6:90642301 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2275C>A (p.Gln759Lys) |
single nucleotide variant |
not provided [RCV005082740] |
Chr6:89932659 [GRCh38] Chr6:90642378 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2424A>C (p.Gly808=) |
single nucleotide variant |
not provided [RCV005158814] |
Chr6:89932510 [GRCh38] Chr6:90642229 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1699A>G (p.Met567Val) |
single nucleotide variant |
not provided [RCV005084247] |
Chr6:89950407 [GRCh38] Chr6:90660126 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.443C>T (p.Ala148Val) |
single nucleotide variant |
not provided [RCV005140312] |
Chr6:89951663 [GRCh38] Chr6:90661382 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.225G>A (p.Val75=) |
single nucleotide variant |
not provided [RCV005164308] |
Chr6:90008620 [GRCh38] Chr6:90718339 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.671C>T (p.Ala224Val) |
single nucleotide variant |
not provided [RCV005083911] |
Chr6:89951435 [GRCh38] Chr6:90661154 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1545C>A (p.Thr515=) |
single nucleotide variant |
not provided [RCV005126141] |
Chr6:89950561 [GRCh38] Chr6:90660280 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2054A>G (p.Lys685Arg) |
single nucleotide variant |
not provided [RCV005130571] |
Chr6:89932880 [GRCh38] Chr6:90642599 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2408C>T (p.Thr803Ile) |
single nucleotide variant |
not provided [RCV005071571] |
Chr6:89932526 [GRCh38] Chr6:90642245 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1638C>T (p.Ser546=) |
single nucleotide variant |
not provided [RCV005183688] |
Chr6:89950468 [GRCh38] Chr6:90660187 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1157C>T (p.Thr386Ile) |
single nucleotide variant |
not provided [RCV005068841] |
Chr6:89950949 [GRCh38] Chr6:90660668 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.983G>C (p.Cys328Ser) |
single nucleotide variant |
not provided [RCV005069771] |
Chr6:89951123 [GRCh38] Chr6:90660842 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1336C>T (p.His446Tyr) |
single nucleotide variant |
not provided [RCV005129736] |
Chr6:89950770 [GRCh38] Chr6:90660489 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.2445C>A (p.Ser815Arg) |
single nucleotide variant |
not provided [RCV005074326] |
Chr6:89932489 [GRCh38] Chr6:90642208 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1431G>A (p.Ser477=) |
single nucleotide variant |
not provided [RCV005074414] |
Chr6:89950675 [GRCh38] Chr6:90660394 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1080T>C (p.Ser360=) |
single nucleotide variant |
not provided [RCV005202539] |
Chr6:89951026 [GRCh38] Chr6:90660745 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.2393G>A (p.Gly798Asp) |
single nucleotide variant |
not provided [RCV005178327] |
Chr6:89932541 [GRCh38] Chr6:90642260 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.253A>C (p.Arg85=) |
single nucleotide variant |
not provided [RCV005200251] |
Chr6:89951853 [GRCh38] Chr6:90661572 [GRCh37] Chr6:6q15 |
likely benign |
NM_021813.4(BACH2):c.1510A>G (p.Ile504Val) |
single nucleotide variant |
not provided [RCV005075114] |
Chr6:89950596 [GRCh38] Chr6:90660315 [GRCh37] Chr6:6q15 |
uncertain significance |
NM_021813.4(BACH2):c.1542G>C (p.Glu514Asp) |
single nucleotide variant |
not provided [RCV005071930] |
Chr6:89950564 [GRCh38] Chr6:90660283 [GRCh37] Chr6:6q15 |
uncertain significance |