| NM_006502.3(POLH):c.106_118del (p.Val36fs) |
deletion |
Xeroderma pigmentosum variant type [RCV000006242]|not provided [RCV005089189] |
Chr6:43582423..43582435 [GRCh38]
Chr6:43550160..43550172 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.54_57del (p.Val19fs) |
deletion |
Xeroderma pigmentosum variant type [RCV000006243] |
Chr6:43582371..43582374 [GRCh38]
Chr6:43550108..43550111 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| POLH, 2-BP DEL, NT770 |
deletion |
Xeroderma pigmentosum variant type [RCV000006244] |
Chr6:6p21.1-p12 |
pathogenic |
| NM_006502.3(POLH):c.916G>T (p.Glu306Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000006245] |
Chr6:43604646 [GRCh38]
Chr6:43572383 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| POLH, DEL AND TRP297TER |
complex |
Xeroderma pigmentosum variant type [RCV000006246] |
Chr6:6p21.1-p12 |
pathogenic |
| NM_006502.3(POLH):c.376C>T (p.Gln126Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000006247]|not provided [RCV003555934] |
Chr6:43587375 [GRCh38]
Chr6:43555112 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1117C>T (p.Gln373Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000006248]|not provided [RCV003555935] |
Chr6:43610596 [GRCh38]
Chr6:43578333 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.663_764+2del |
deletion |
Xeroderma pigmentosum variant type [RCV000006249] |
Chr6:6p21.1-p12 |
pathogenic |
| NM_006502.3(POLH):c.207del (p.Lys70fs) |
deletion |
Xeroderma pigmentosum variant type [RCV000006250]|not provided [RCV005089190] |
Chr6:43583076 [GRCh38]
Chr6:43550813 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.222TCT[1] (p.Leu77del) |
microsatellite |
Xeroderma pigmentosum variant type [RCV000006251] |
Chr6:43583091..43583093 [GRCh38]
Chr6:43550828..43550830 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) |
single nucleotide variant |
POLH-related disorder [RCV003944804]|Xeroderma pigmentosum [RCV002257357]|Xeroderma pigmentosum variant type [RCV000006252]|not provided [RCV000899778]|not specified [RCV002298435] |
Chr6:43614018 [GRCh38]
Chr6:43581755 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_006502.3(POLH):c.1766A>C (p.Lys589Thr) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000006253] |
Chr6:43614181 [GRCh38]
Chr6:43581918 [GRCh37]
Chr6:6p21.1 |
pathogenic|uncertain significance |
| GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1 |
copy number loss |
See cases [RCV000051011] |
Chr6:42368558..44590544 [GRCh38]
Chr6:42336296..44558281 [GRCh37]
Chr6:42444274..44666259 [NCBI36]
Chr6:6p21.1 |
pathogenic |
| GRCh38/hg38 6p21.1(chr6:42133625-44106194)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051899]|See cases [RCV000051899] |
Chr6:42133625..44106194 [GRCh38]
Chr6:42101363..44073931 [GRCh37]
Chr6:42209341..44181909 [NCBI36]
Chr6:6p21.1 |
pathogenic |
| GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 |
copy number loss |
See cases [RCV000052181] |
Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1 |
pathogenic |
| GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 |
copy number loss |
See cases [RCV000052182] |
Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3 |
pathogenic |
| NM_019096.4(GTPBP2):c.1397G>C (p.Cys466Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061437] |
Chr6:43622703 [GRCh38]
Chr6:43590440 [GRCh37]
Chr6:43698418 [NCBI36]
Chr6:6p21.1 |
not provided |
| NM_006502.3(POLH):c.1029A>C (p.Gln343His) |
single nucleotide variant |
Inborn genetic diseases [RCV003175441] |
Chr6:43605274 [GRCh38]
Chr6:43573011 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1876C>T (p.Leu626Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003205369] |
Chr6:43614291 [GRCh38]
Chr6:43582028 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.138-205C>T |
single nucleotide variant |
not provided [RCV001545780] |
Chr6:43582802 [GRCh38]
Chr6:43550539 [GRCh37]
Chr6:6p21.1 |
likely benign |
| GRCh38/hg38 6p21.1(chr6:43537357-43784452)x3 |
copy number gain |
See cases [RCV000138182] |
Chr6:43537357..43784452 [GRCh38]
Chr6:43505094..43752189 [GRCh37]
Chr6:43613072..43860167 [NCBI36]
Chr6:6p21.1 |
uncertain significance |
| GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3 |
pathogenic |
| NM_006502.3(POLH):c.660+10A>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000259489]|not provided [RCV003698781] |
Chr6:43597875 [GRCh38]
Chr6:43565612 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*2080G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000262427] |
Chr6:43616637 [GRCh38]
Chr6:43584374 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.764+1G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000208975]|not provided [RCV003556267] |
Chr6:43601092 [GRCh38]
Chr6:43568829 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic |
| NM_006502.3(POLH):c.907C>T (p.Arg303Ter) |
single nucleotide variant |
Xeroderma pigmentosum [RCV005055738]|Xeroderma pigmentosum variant type [RCV000209179]|not provided [RCV003556268] |
Chr6:43604637 [GRCh38]
Chr6:43572374 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.490G>T (p.Glu164Ter) |
single nucleotide variant |
Xeroderma pigmentosum [RCV001195542]|Xeroderma pigmentosum variant type [RCV000251879]|not provided [RCV003556274] |
Chr6:43587489 [GRCh38]
Chr6:43555226 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_006502.3(POLH):c.-5+3A>G |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257655]|Xeroderma pigmentosum variant type [RCV000267901]|not provided [RCV000998608] |
Chr6:43576443 [GRCh38]
Chr6:43544180 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4928T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000279984] |
Chr6:43619485 [GRCh38]
Chr6:43587222 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*4368C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000281874] |
Chr6:43618925 [GRCh38]
Chr6:43586662 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.725C>G (p.Ser242Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000243669]|not provided [RCV003556302] |
Chr6:43601052 [GRCh38]
Chr6:43568789 [GRCh37]
Chr6:6p21.1 |
pathogenic|not provided |
| NM_006502.3(POLH):c.626G>T (p.Gly209Val) |
single nucleotide variant |
Malignant tumor of breast [RCV001269501]|Xeroderma pigmentosum [RCV002257621]|Xeroderma pigmentosum variant type [RCV000615798]|not provided [RCV000953963]|not specified [RCV000241818] |
Chr6:43597831 [GRCh38]
Chr6:43565568 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.1939A>T (p.Met647Leu) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000408337]|not provided [RCV001660298]|not specified [RCV000251713] |
Chr6:43614354 [GRCh38]
Chr6:43582091 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.887C>T (p.Ser296Phe) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000274934] |
Chr6:43604617 [GRCh38]
Chr6:43572354 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1664del (p.Asn555fs) |
deletion |
Xeroderma pigmentosum variant type [RCV000244978] |
Chr6:43614076 [GRCh38]
Chr6:43581813 [GRCh37]
Chr6:6p21.1 |
pathogenic|not provided |
| NM_006502.3(POLH):c.1434G>A (p.Thr478=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000346093]|not provided [RCV001683057]|not specified [RCV000242577] |
Chr6:43613849 [GRCh38]
Chr6:43581586 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.1783A>G (p.Met595Val) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000677310]|not provided [RCV001668521]|not specified [RCV000247560] |
Chr6:43614198 [GRCh38]
Chr6:43581935 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.2(POLH):c.1075-?_1244+?del |
deletion |
Xeroderma pigmentosum variant type [RCV000248099] |
Chr6:43607987..43611911 [GRCh38]
Chr6:43578291..43578460 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.*2441T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000332611] |
Chr6:43616998 [GRCh38]
Chr6:43584735 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1841A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000351778] |
Chr6:43616398 [GRCh38]
Chr6:43584135 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4734G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000320708] |
Chr6:43619291 [GRCh38]
Chr6:43587028 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5697G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000344327] |
Chr6:43620254 [GRCh38]
Chr6:43587991 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr) |
single nucleotide variant |
POLH-related disorder [RCV003912527]|Xeroderma pigmentosum [RCV002258882]|Xeroderma pigmentosum variant type [RCV000299804]|not provided [RCV000911755] |
Chr6:43614439 [GRCh38]
Chr6:43582176 [GRCh37]
Chr6:6p21.1 |
benign|likely benign|uncertain significance |
| NM_006502.3(POLH):c.*290C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000334151]|not provided [RCV001636984] |
Chr6:43614847 [GRCh38]
Chr6:43582584 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*698C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000322447] |
Chr6:43615255 [GRCh38]
Chr6:43582992 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.491-4T>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000354571]|not provided [RCV000998609] |
Chr6:43597692 [GRCh38]
Chr6:43565429 [GRCh37]
Chr6:6p21.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.*3088G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000355289] |
Chr6:43617645 [GRCh38]
Chr6:43585382 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*4414dup |
duplication |
Xeroderma pigmentosum [RCV000399577] |
Chr6:43618961..43618962 [GRCh38]
Chr6:43586698..43586699 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*1364T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000323247] |
Chr6:43615921 [GRCh38]
Chr6:43583658 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.2(POLH):c.-282A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000371621] |
Chr6:43576163 [GRCh38]
Chr6:43543900 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1483G>A (p.Glu495Lys) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000398974]|not provided [RCV002524484] |
Chr6:43613898 [GRCh38]
Chr6:43581635 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1959A>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000301911] |
Chr6:43616516 [GRCh38]
Chr6:43584253 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-242C>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000336847] |
Chr6:43576203 [GRCh38]
Chr6:43543940 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5713T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000401447] |
Chr6:43620270 [GRCh38]
Chr6:43588007 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*3692G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000270570] |
Chr6:43618249 [GRCh38]
Chr6:43585986 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*537C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000270765] |
Chr6:43615094 [GRCh38]
Chr6:43582831 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*2901T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000305021] |
Chr6:43617458 [GRCh38]
Chr6:43585195 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1201C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000358094] |
Chr6:43615758 [GRCh38]
Chr6:43583495 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*1549C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000379942] |
Chr6:43616106 [GRCh38]
Chr6:43583843 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*2513A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000288440] |
Chr6:43617070 [GRCh38]
Chr6:43584807 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*4112C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000286997] |
Chr6:43618669 [GRCh38]
Chr6:43586406 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.698A>G (p.Asn233Ser) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000319612]|not provided [RCV000959617] |
Chr6:43601025 [GRCh38]
Chr6:43568762 [GRCh37]
Chr6:6p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.*2151A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000319854] |
Chr6:43616708 [GRCh38]
Chr6:43584445 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1858A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000307480] |
Chr6:43616415 [GRCh38]
Chr6:43584152 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*3744G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000328097] |
Chr6:43618301 [GRCh38]
Chr6:43586038 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000304368] |
Chr6:43583101 [GRCh38]
Chr6:43550838 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*693C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000290947] |
Chr6:43615250 [GRCh38]
Chr6:43582987 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.-195G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000308184] |
Chr6:43576250 [GRCh38]
Chr6:43543987 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-219T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000352515] |
Chr6:43576226 [GRCh38]
Chr6:43543963 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3847G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000379029] |
Chr6:43618404 [GRCh38]
Chr6:43586141 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*3800T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000322059] |
Chr6:43618357 [GRCh38]
Chr6:43586094 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2659T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000383909] |
Chr6:43617216 [GRCh38]
Chr6:43584953 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*50A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000274029]|not provided [RCV001613186] |
Chr6:43614607 [GRCh38]
Chr6:43582344 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*1179G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000310362] |
Chr6:43615736 [GRCh38]
Chr6:43583473 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.1896A>G (p.Gln632=) |
single nucleotide variant |
POLH-related disorder [RCV003957840]|Xeroderma pigmentosum [RCV002257657]|Xeroderma pigmentosum variant type [RCV000353662]|not provided [RCV003422348] |
Chr6:43614311 [GRCh38]
Chr6:43582048 [GRCh37]
Chr6:6p21.1 |
benign|likely benign|uncertain significance |
| NM_006502.3(POLH):c.1266T>C (p.Leu422=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV000380775]|not provided [RCV003669141] |
Chr6:43613681 [GRCh38]
Chr6:43581418 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*952C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000401669] |
Chr6:43615509 [GRCh38]
Chr6:43583246 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*4310G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000401690] |
Chr6:43618867 [GRCh38]
Chr6:43586604 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1110A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000307090] |
Chr6:43615667 [GRCh38]
Chr6:43583404 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.1721G>A (p.Cys574Tyr) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000343274] |
Chr6:43614136 [GRCh38]
Chr6:43581873 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2269C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000385894] |
Chr6:43616826 [GRCh38]
Chr6:43584563 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.738C>T (p.Leu246=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002257656]|Xeroderma pigmentosum variant type [RCV000355710]|not provided [RCV002524483] |
Chr6:43601065 [GRCh38]
Chr6:43568802 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.-232C>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000293002] |
Chr6:43576213 [GRCh38]
Chr6:43543950 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4531_*4532del |
deletion |
Xeroderma pigmentosum [RCV000307415] |
Chr6:43619088..43619089 [GRCh38]
Chr6:43586825..43586826 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2975C>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000343501] |
Chr6:43617532 [GRCh38]
Chr6:43585269 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.-117C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000344239] |
Chr6:43576328 [GRCh38]
Chr6:43544065 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*1129A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000363986] |
Chr6:43615686 [GRCh38]
Chr6:43583423 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*4624G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000364480] |
Chr6:43619181 [GRCh38]
Chr6:43586918 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3416G>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000276568] |
Chr6:43617973 [GRCh38]
Chr6:43585710 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*639G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000325782] |
Chr6:43615196 [GRCh38]
Chr6:43582933 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1074+7T>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000294499]|not provided [RCV003766053] |
Chr6:43605326 [GRCh38]
Chr6:43573063 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*4271G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000335856] |
Chr6:43618828 [GRCh38]
Chr6:43586565 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-62C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000359319] |
Chr6:43576383 [GRCh38]
Chr6:43544120 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4767C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000359072] |
Chr6:43619324 [GRCh38]
Chr6:43587061 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3753C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000384917] |
Chr6:43618310 [GRCh38]
Chr6:43586047 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3225G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000408239] |
Chr6:43617782 [GRCh38]
Chr6:43585519 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5936del |
deletion |
Xeroderma pigmentosum [RCV000309554]|not provided [RCV004695945] |
Chr6:43620493 [GRCh38]
Chr6:43588230 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2600C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000345722] |
Chr6:43617157 [GRCh38]
Chr6:43584894 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1916C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000346014] |
Chr6:43616473 [GRCh38]
Chr6:43584210 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2489C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000389503] |
Chr6:43617046 [GRCh38]
Chr6:43584783 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*998A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000389985] |
Chr6:43615555 [GRCh38]
Chr6:43583292 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.-239G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000386709] |
Chr6:43576206 [GRCh38]
Chr6:43543943 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.2028C>T (p.Ala676=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258883]|Xeroderma pigmentosum variant type [RCV000368635]|not provided [RCV001550335] |
Chr6:43614443 [GRCh38]
Chr6:43582180 [GRCh37]
Chr6:6p21.1 |
benign|likely benign|uncertain significance |
| NM_006502.3(POLH):c.*5630G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000296425] |
Chr6:43620187 [GRCh38]
Chr6:43587924 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*3685G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000362907] |
Chr6:43618242 [GRCh38]
Chr6:43585979 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*371A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000370169] |
Chr6:43614928 [GRCh38]
Chr6:43582665 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.*1615C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000317138] |
Chr6:43616172 [GRCh38]
Chr6:43583909 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2725G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000340041] |
Chr6:43617282 [GRCh38]
Chr6:43585019 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3238C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000311899] |
Chr6:43617795 [GRCh38]
Chr6:43585532 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000330096]|not provided [RCV000880605] |
Chr6:43604716 [GRCh38]
Chr6:43572453 [GRCh37]
Chr6:6p21.1 |
benign|likely benign|uncertain significance |
| NM_006502.2(POLH):c.-274C>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000281784] |
Chr6:43576171 [GRCh38]
Chr6:43543908 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4511T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000392506] |
Chr6:43619068 [GRCh38]
Chr6:43586805 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1055A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000313002] |
Chr6:43615612 [GRCh38]
Chr6:43583349 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.-98A>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000392821] |
Chr6:43576347 [GRCh38]
Chr6:43544084 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*1940G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000392915] |
Chr6:43616497 [GRCh38]
Chr6:43584234 [GRCh37]
Chr6:6p21.1 |
benign|uncertain significance |
| NM_006502.3(POLH):c.*1563dup |
duplication |
Xeroderma pigmentosum [RCV000259563] |
Chr6:43616119..43616120 [GRCh38]
Chr6:43583856..43583857 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*954C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000281708] |
Chr6:43615511 [GRCh38]
Chr6:43583248 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1735A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000282091] |
Chr6:43616292 [GRCh38]
Chr6:43584029 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1139C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000271815] |
Chr6:43615696 [GRCh38]
Chr6:43583433 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4633C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000272667] |
Chr6:43619190 [GRCh38]
Chr6:43586927 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1637A>G (p.Asn546Ser) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000283033] |
Chr6:43614052 [GRCh38]
Chr6:43581789 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3769T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000283329] |
Chr6:43618326 [GRCh38]
Chr6:43586063 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4413_*4414dup |
duplication |
Xeroderma pigmentosum [RCV000313702] |
Chr6:43618961..43618962 [GRCh38]
Chr6:43586698..43586699 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2280A>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000275126] |
Chr6:43616837 [GRCh38]
Chr6:43584574 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1219A>T |
single nucleotide variant |
Xeroderma pigmentosum [RCV000265785] |
Chr6:43615776 [GRCh38]
Chr6:43583513 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.2(POLH):c.-288C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000266411] |
Chr6:43576157 [GRCh38]
Chr6:43543894 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2043dup |
duplication |
Xeroderma pigmentosum [RCV000266624] |
Chr6:43616586..43616587 [GRCh38]
Chr6:43584323..43584324 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*4806del |
deletion |
Xeroderma pigmentosum [RCV000266697] |
Chr6:43619363 [GRCh38]
Chr6:43587100 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1234C>A (p.Gln412Lys) |
single nucleotide variant |
not specified [RCV002282881] |
Chr6:43610713 [GRCh38]
Chr6:43578450 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1244+1G>T |
single nucleotide variant |
not provided [RCV002284156] |
Chr6:43610724 [GRCh38]
Chr6:43578461 [GRCh37]
Chr6:6p21.1 |
not provided |
| NM_006502.3(POLH):c.1288T>C (p.Ser430Pro) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000291119] |
Chr6:43613703 [GRCh38]
Chr6:43581440 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3051_*3052del |
deletion |
Xeroderma pigmentosum [RCV000399092] |
Chr6:43617607..43617608 [GRCh38]
Chr6:43585344..43585345 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2692G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000291903] |
Chr6:43617249 [GRCh38]
Chr6:43584986 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-216C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000400586] |
Chr6:43576229 [GRCh38]
Chr6:43543966 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5142_*5146del |
deletion |
Xeroderma pigmentosum [RCV000293010] |
Chr6:43619695..43619699 [GRCh38]
Chr6:43587432..43587436 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.2(POLH):c.-285C>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000316874] |
Chr6:43576160 [GRCh38]
Chr6:43543897 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5007T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000318679] |
Chr6:43619564 [GRCh38]
Chr6:43587301 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3670C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000333990] |
Chr6:43618227 [GRCh38]
Chr6:43585964 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4388TATTT[1] |
microsatellite |
Xeroderma pigmentosum [RCV000348578] |
Chr6:43618942..43618946 [GRCh38]
Chr6:43586679..43586683 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1764C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000348808] |
Chr6:43616321 [GRCh38]
Chr6:43584058 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*671C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000385280] |
Chr6:43615228 [GRCh38]
Chr6:43582965 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1819A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000295023] |
Chr6:43616376 [GRCh38]
Chr6:43584113 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5199A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000350013] |
Chr6:43619756 [GRCh38]
Chr6:43587493 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*871G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000335462] |
Chr6:43615428 [GRCh38]
Chr6:43583165 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3335C>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000368885] |
Chr6:43617892 [GRCh38]
Chr6:43585629 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1815T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000386902] |
Chr6:43616372 [GRCh38]
Chr6:43584109 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*865G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000285154] |
Chr6:43615422 [GRCh38]
Chr6:43583159 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*985G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000336773] |
Chr6:43615542 [GRCh38]
Chr6:43583279 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1091T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000369970] |
Chr6:43615648 [GRCh38]
Chr6:43583385 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1074T>G (p.Asp358Glu) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000388890] |
Chr6:43605319 [GRCh38]
Chr6:43573056 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4414del |
deletion |
Xeroderma pigmentosum [RCV000370806] |
Chr6:43618962 [GRCh38]
Chr6:43586699 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2042_*2043dup |
duplication |
Xeroderma pigmentosum [RCV000297657] |
Chr6:43616586..43616587 [GRCh38]
Chr6:43584323..43584324 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3067A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000298068] |
Chr6:43617624 [GRCh38]
Chr6:43585361 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-87del |
deletion |
Xeroderma pigmentosum [RCV000309267] |
Chr6:43576356 [GRCh38]
Chr6:43544093 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4837dup |
duplication |
Xeroderma pigmentosum [RCV000371739] |
Chr6:43619364..43619365 [GRCh38]
Chr6:43587101..43587102 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1846G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000390380] |
Chr6:43616403 [GRCh38]
Chr6:43584140 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1870C>G (p.Pro624Ala) |
single nucleotide variant |
Xeroderma pigmentosum [RCV000298760] |
Chr6:43614285 [GRCh38]
Chr6:43582022 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4807del |
deletion |
Xeroderma pigmentosum [RCV000324073] |
Chr6:43619364 [GRCh38]
Chr6:43587101 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2074C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000354893] |
Chr6:43616631 [GRCh38]
Chr6:43584368 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1103A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000392274] |
Chr6:43615660 [GRCh38]
Chr6:43583397 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1650G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000374046] |
Chr6:43616207 [GRCh38]
Chr6:43583944 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) |
microsatellite |
Xeroderma pigmentosum [RCV000326191]|Xeroderma pigmentosum variant type [RCV000625435]|not provided [RCV002058614] |
Chr6:43613662..43613664 [GRCh38]
Chr6:43581399..43581401 [GRCh37]
Chr6:6p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.*5071AG[2] |
microsatellite |
Xeroderma pigmentosum [RCV000375724] |
Chr6:43619628..43619629 [GRCh38]
Chr6:43587365..43587366 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1984A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000359021] |
Chr6:43616541 [GRCh38]
Chr6:43584278 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*700T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000377107] |
Chr6:43615257 [GRCh38]
Chr6:43582994 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5349T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000396688] |
Chr6:43619906 [GRCh38]
Chr6:43587643 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2812_*2820delinsCC |
indel |
Xeroderma pigmentosum [RCV000398513] |
Chr6:43617369..43617377 [GRCh38]
Chr6:43585106..43585114 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006502.3(POLH):c.539T>C (p.Ile180Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003261859] |
Chr6:43597744 [GRCh38]
Chr6:43565481 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1318_1322del (p.Ile440fs) |
deletion |
not provided [RCV000518963] |
Chr6:43613731..43613735 [GRCh38]
Chr6:43581468..43581472 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.679T>C (p.Cys227Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003290248] |
Chr6:43601006 [GRCh38]
Chr6:43568743 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.512del (p.Leu171fs) |
deletion |
Inborn genetic diseases [RCV000624481] |
Chr6:43597716 [GRCh38]
Chr6:43565453 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.490+1del |
deletion |
Xeroderma pigmentosum variant type [RCV000680214] |
Chr6:43587489 [GRCh38]
Chr6:43555226 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27 |
pathogenic |
| NM_006502.3(POLH):c.890G>A (p.Trp297Ter) |
single nucleotide variant |
not provided [RCV001529082] |
Chr6:43604620 [GRCh38]
Chr6:43572357 [GRCh37]
Chr6:6p21.1 |
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 |
| NM_006502.3(POLH):c.248C>T (p.Ser83Phe) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164355] |
Chr6:43583117 [GRCh38]
Chr6:43550854 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3250G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164775] |
Chr6:43617807 [GRCh38]
Chr6:43585544 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.138-186G>A |
single nucleotide variant |
not provided [RCV001679209] |
Chr6:43582821 [GRCh38]
Chr6:43550558 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1751T>C (p.Leu584Pro) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164467]|not provided [RCV000970140] |
Chr6:43614166 [GRCh38]
Chr6:43581903 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.885-8C>T |
single nucleotide variant |
not provided [RCV000950706] |
Chr6:43604607 [GRCh38]
Chr6:43572344 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.-4-1G>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV000778795]|not provided [RCV003558582] |
Chr6:43582315 [GRCh38]
Chr6:43550052 [GRCh37]
Chr6:6p21.1 |
pathogenic|uncertain significance |
| NM_006502.3(POLH):c.1227T>C (p.Ser409=) |
single nucleotide variant |
not provided [RCV000940167] |
Chr6:43610706 [GRCh38]
Chr6:43578443 [GRCh37]
Chr6:6p21.1 |
likely benign |
| GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1 |
pathogenic |
| NM_006502.3(POLH):c.1473G>A (p.Gln491=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258047]|Xeroderma pigmentosum variant type [RCV001162425]|not provided [RCV000925879] |
Chr6:43613888 [GRCh38]
Chr6:43581625 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.149dup (p.Ser51fs) |
duplication |
Xeroderma pigmentosum variant type [RCV000778796]|not provided [RCV003558583] |
Chr6:43583017..43583018 [GRCh38]
Chr6:43550754..43550755 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic |
| NM_006502.3(POLH):c.396A>G (p.Leu132=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164359]|not provided [RCV003698847] |
Chr6:43587395 [GRCh38]
Chr6:43555132 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.272+4A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164357] |
Chr6:43583145 [GRCh38]
Chr6:43550882 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.447G>T (p.Gly149=) |
single nucleotide variant |
not provided [RCV000961717] |
Chr6:43587446 [GRCh38]
Chr6:43555183 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.490+9A>G |
single nucleotide variant |
not provided [RCV000894995] |
Chr6:43587498 [GRCh38]
Chr6:43555235 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.251G>A (p.Arg84His) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164356] |
Chr6:43583120 [GRCh38]
Chr6:43550857 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.341T>C (p.Ile114Thr) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164358] |
Chr6:43587340 [GRCh38]
Chr6:43555077 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1568G>T (p.Ser523Ile) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164465] |
Chr6:43613983 [GRCh38]
Chr6:43581720 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1925G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164675] |
Chr6:43616482 [GRCh38]
Chr6:43584219 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1140C>T (p.Ser380=) |
single nucleotide variant |
not provided [RCV000915440] |
Chr6:43610619 [GRCh38]
Chr6:43578356 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1299C>A (p.Ala433=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259086]|Xeroderma pigmentosum variant type [RCV001162422]|not provided [RCV003546668] |
Chr6:43613714 [GRCh38]
Chr6:43581451 [GRCh37]
Chr6:6p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.1406C>T (p.Ala469Val) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258147]|Xeroderma pigmentosum variant type [RCV001162423] |
Chr6:43613821 [GRCh38]
Chr6:43581558 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*546T>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162528] |
Chr6:43615103 [GRCh38]
Chr6:43582840 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*1778T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162617] |
Chr6:43616335 [GRCh38]
Chr6:43584072 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2573C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162719] |
Chr6:43617130 [GRCh38]
Chr6:43584867 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2844G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162721] |
Chr6:43617401 [GRCh38]
Chr6:43585138 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3842G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162828] |
Chr6:43618399 [GRCh38]
Chr6:43586136 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4159C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162831] |
Chr6:43618716 [GRCh38]
Chr6:43586453 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5786G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162931] |
Chr6:43620343 [GRCh38]
Chr6:43588080 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1249C>T (p.Pro417Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003247522] |
Chr6:43613664 [GRCh38]
Chr6:43581401 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1572A>C (p.Gln524His) |
single nucleotide variant |
POLH-related disorder [RCV003928763]|Xeroderma pigmentosum [RCV002258148]|Xeroderma pigmentosum variant type [RCV001164466]|not provided [RCV001549429] |
Chr6:43613987 [GRCh38]
Chr6:43581724 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1953G>A (p.Met651Ile) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159536] |
Chr6:43614368 [GRCh38]
Chr6:43582105 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.2091G>A (p.Arg697=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159538] |
Chr6:43614506 [GRCh38]
Chr6:43582243 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1156G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159649]|not provided [RCV004706048] |
Chr6:43615713 [GRCh38]
Chr6:43583450 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*2094T>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159756] |
Chr6:43616651 [GRCh38]
Chr6:43584388 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3472A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159862] |
Chr6:43618029 [GRCh38]
Chr6:43585766 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*3608A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159863] |
Chr6:43618165 [GRCh38]
Chr6:43585902 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4959T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159982] |
Chr6:43619516 [GRCh38]
Chr6:43587253 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.-252G>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160706] |
Chr6:43576193 [GRCh38]
Chr6:43543930 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.815T>C (p.Ile272Thr) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258146]|Xeroderma pigmentosum variant type [RCV001160807]|not provided [RCV002070990] |
Chr6:43603942 [GRCh38]
Chr6:43571679 [GRCh37]
Chr6:6p21.1 |
benign|likely benign|uncertain significance |
| NM_006502.3(POLH):c.*2423A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161159] |
Chr6:43616980 [GRCh38]
Chr6:43584717 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5140C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161388] |
Chr6:43619697 [GRCh38]
Chr6:43587434 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1750C>T (p.Leu584=) |
single nucleotide variant |
not provided [RCV003108960] |
Chr6:43614165 [GRCh38]
Chr6:43581902 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1833del (p.Lys611fs) |
deletion |
not specified [RCV003123459] |
Chr6:43614246 [GRCh38]
Chr6:43581983 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.885-136C>T |
single nucleotide variant |
not provided [RCV001564577] |
Chr6:43604479 [GRCh38]
Chr6:43572216 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NC_000006.11:g.(?_42162409)_(44154249_?)del |
deletion |
not provided [RCV003107587] |
Chr6:42162409..44154249 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1394G>A (p.Gly465Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003249611] |
Chr6:43613809 [GRCh38]
Chr6:43581546 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1100T>C (p.Val367Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003257237] |
Chr6:43610579 [GRCh38]
Chr6:43578316 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.765-224T>C |
single nucleotide variant |
not provided [RCV001610062] |
Chr6:43603668 [GRCh38]
Chr6:43603668..43603669 [GRCh38]
Chr6:43571405 [GRCh37]
Chr6:43571405..43571406 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.764+219C>T |
single nucleotide variant |
not provided [RCV001534487] |
Chr6:43601310 [GRCh38]
Chr6:43569047 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.137+71T>G |
single nucleotide variant |
not provided [RCV001569057] |
Chr6:43582527 [GRCh38]
Chr6:43550264 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1075-281del |
deletion |
not provided [RCV001561339] |
Chr6:43610272 [GRCh38]
Chr6:43578009 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.885-207A>G |
single nucleotide variant |
not provided [RCV001614361] |
Chr6:43604408 [GRCh38]
Chr6:43572145 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.765-248C>T |
single nucleotide variant |
not provided [RCV001614122] |
Chr6:43603644 [GRCh38]
Chr6:43571381 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.491-178G>A |
single nucleotide variant |
not provided [RCV001541582] |
Chr6:43597518 [GRCh38]
Chr6:43565255 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.2070C>T (p.Ala690=) |
single nucleotide variant |
not provided [RCV000977360] |
Chr6:43614485 [GRCh38]
Chr6:43582222 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1990T>C (p.Leu664=) |
single nucleotide variant |
not provided [RCV000888322] |
Chr6:43614405 [GRCh38]
Chr6:43582142 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.189G>C (p.Met63Ile) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164353] |
Chr6:43583058 [GRCh38]
Chr6:43550795 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*720T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164561] |
Chr6:43615277 [GRCh38]
Chr6:43583014 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*884G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164562] |
Chr6:43615441 [GRCh38]
Chr6:43583178 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2289T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159757] |
Chr6:43616846 [GRCh38]
Chr6:43584583 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3022A>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164774] |
Chr6:43617579 [GRCh38]
Chr6:43585316 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3611T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159864] |
Chr6:43618168 [GRCh38]
Chr6:43585905 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*3630C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159865] |
Chr6:43618187 [GRCh38]
Chr6:43585924 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3631G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159866] |
Chr6:43618188 [GRCh38]
Chr6:43585925 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4845T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159980] |
Chr6:43619402 [GRCh38]
Chr6:43587139 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4791G>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159979] |
Chr6:43619348 [GRCh38]
Chr6:43587085 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4785G>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159978] |
Chr6:43619342 [GRCh38]
Chr6:43587079 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.791C>T (p.Ala264Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003363124]|Xeroderma pigmentosum variant type [RCV001160806] |
Chr6:43603918 [GRCh38]
Chr6:43571655 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*281T>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160917] |
Chr6:43614838 [GRCh38]
Chr6:43582575 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*408T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160918] |
Chr6:43614965 [GRCh38]
Chr6:43582702 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*429G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160919] |
Chr6:43614986 [GRCh38]
Chr6:43582723 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.288T>C (p.Ser96=) |
single nucleotide variant |
not provided [RCV000913579] |
Chr6:43587287 [GRCh38]
Chr6:43555024 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.104C>T (p.Ala35Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002540865]|not provided [RCV000913815] |
Chr6:43582423 [GRCh38]
Chr6:43550160 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.1433C>T (p.Thr478Met) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162424]|not provided [RCV000890100]|not specified [RCV001844245] |
Chr6:43613848 [GRCh38]
Chr6:43581585 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.137+275G>A |
single nucleotide variant |
not provided [RCV001715832] |
Chr6:43582731 [GRCh38]
Chr6:43550468 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.273-175T>C |
single nucleotide variant |
not provided [RCV001715851] |
Chr6:43587097 [GRCh38]
Chr6:43554834 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1244+206TTA[2] |
microsatellite |
not provided [RCV001677021] |
Chr6:43610929..43610931 [GRCh38]
Chr6:43578666..43578668 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.273-32T>C |
single nucleotide variant |
not provided [RCV001597937] |
Chr6:43587240 [GRCh38]
Chr6:43554977 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.765-74A>G |
single nucleotide variant |
not provided [RCV001672356] |
Chr6:43603818 [GRCh38]
Chr6:43571555 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1244+270A>G |
single nucleotide variant |
not provided [RCV001687230] |
Chr6:43610993 [GRCh38]
Chr6:43578730 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.764+152C>T |
single nucleotide variant |
not provided [RCV001638205] |
Chr6:43601243 [GRCh38]
Chr6:43568980 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1245-272G>A |
single nucleotide variant |
not provided [RCV001678081] |
Chr6:43613388 [GRCh38]
Chr6:43581125 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*3684C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161273] |
Chr6:43618241 [GRCh38]
Chr6:43585978 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3724G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161274] |
Chr6:43618281 [GRCh38]
Chr6:43586018 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5020G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161387] |
Chr6:43619577 [GRCh38]
Chr6:43587314 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5164T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161389] |
Chr6:43619721 [GRCh38]
Chr6:43587458 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4768G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159977] |
Chr6:43619325 [GRCh38]
Chr6:43587062 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-94A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162325] |
Chr6:43576351 [GRCh38]
Chr6:43544088 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*599T>C |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162529] |
Chr6:43615156 [GRCh38]
Chr6:43582893 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1594G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162615] |
Chr6:43616151 [GRCh38]
Chr6:43583888 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3828C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162827] |
Chr6:43618385 [GRCh38]
Chr6:43586122 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5933T>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162932] |
Chr6:43620490 [GRCh38]
Chr6:43588227 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1000C>T (p.Arg334Trp) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160808]|not provided [RCV002558524] |
Chr6:43604730 [GRCh38]
Chr6:43572467 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1535C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161037] |
Chr6:43616092 [GRCh38]
Chr6:43583829 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2454G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161160] |
Chr6:43617011 [GRCh38]
Chr6:43584748 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2499G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161161] |
Chr6:43617056 [GRCh38]
Chr6:43584793 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.525C>T (p.Leu175=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159433]|not provided [RCV003558726] |
Chr6:43597730 [GRCh38]
Chr6:43565467 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.709C>G (p.Leu237Val) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159434] |
Chr6:43601036 [GRCh38]
Chr6:43568773 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.2031A>T (p.Val677=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159537]|not provided [RCV001594410] |
Chr6:43614446 [GRCh38]
Chr6:43582183 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*31A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160915] |
Chr6:43614588 [GRCh38]
Chr6:43582325 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*181C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001160916]|not provided [RCV004695030] |
Chr6:43614738 [GRCh38]
Chr6:43582475 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1547G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161038] |
Chr6:43616104 [GRCh38]
Chr6:43583841 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.661-336T>C |
single nucleotide variant |
not provided [RCV001684852] |
Chr6:43600652 [GRCh38]
Chr6:43568389 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.660+94C>T |
single nucleotide variant |
not provided [RCV001583508] |
Chr6:43597959 [GRCh38]
Chr6:43565696 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*5934G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162933] |
Chr6:43620491 [GRCh38]
Chr6:43588228 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.765-38G>A |
single nucleotide variant |
not provided [RCV001681599] |
Chr6:43603854 [GRCh38]
Chr6:43571591 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV003132220]|not provided [RCV001090592]|not specified [RCV003155358] |
Chr6:43614489 [GRCh38]
Chr6:43582226 [GRCh37]
Chr6:6p21.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.25G>T (p.Val9Phe) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162327] |
Chr6:43582344 [GRCh38]
Chr6:43550081 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.34G>C (p.Val12Leu) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162328] |
Chr6:43582353 [GRCh38]
Chr6:43550090 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2814A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162720] |
Chr6:43617371 [GRCh38]
Chr6:43585108 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*3855A>G |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162829] |
Chr6:43618412 [GRCh38]
Chr6:43586149 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4160G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162832] |
Chr6:43618717 [GRCh38]
Chr6:43586454 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.229C>T (p.Leu77=) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164354]|not provided [RCV003558732] |
Chr6:43583098 [GRCh38]
Chr6:43550835 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.*3318G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164776] |
Chr6:43617875 [GRCh38]
Chr6:43585612 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*4208G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001164888] |
Chr6:43618765 [GRCh38]
Chr6:43586502 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*5731C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162930] |
Chr6:43620288 [GRCh38]
Chr6:43588025 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.409A>G (p.Ile137Val) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159431] |
Chr6:43587408 [GRCh38]
Chr6:43555145 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.458G>A (p.Gly153Asp) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159432]|not provided [RCV002558412] |
Chr6:43587457 [GRCh38]
Chr6:43555194 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159539] |
Chr6:43614559 [GRCh38]
Chr6:43582296 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*4857G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001159981] |
Chr6:43619414 [GRCh38]
Chr6:43587151 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1336G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161034] |
Chr6:43615893 [GRCh38]
Chr6:43583630 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.*1346C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161035] |
Chr6:43615903 [GRCh38]
Chr6:43583640 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1528G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161036] |
Chr6:43616085 [GRCh38]
Chr6:43583822 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2537G>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161162] |
Chr6:43617094 [GRCh38]
Chr6:43584831 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*2568G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001161163] |
Chr6:43617125 [GRCh38]
Chr6:43584862 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.7A>G (p.Thr3Ala) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162326] |
Chr6:43582326 [GRCh38]
Chr6:43550063 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1163C>A (p.Thr388Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003246736]|Xeroderma pigmentosum variant type [RCV001162421]|not provided [RCV003117791] |
Chr6:43610642 [GRCh38]
Chr6:43578379 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.*1679C>T |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162616] |
Chr6:43616236 [GRCh38]
Chr6:43583973 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.*4143G>A |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001162830] |
Chr6:43618700 [GRCh38]
Chr6:43586437 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1367T>G (p.Val456Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004664513] |
Chr6:43613782 [GRCh38]
Chr6:43581519 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.505C>T (p.Gln169Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001333542] |
Chr6:43597710 [GRCh38]
Chr6:43565447 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1640C>A (p.Ser547Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004664512] |
Chr6:43614055 [GRCh38]
Chr6:43581792 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1009-41G>A |
single nucleotide variant |
not provided [RCV001538313] |
Chr6:43605213 [GRCh38]
Chr6:43572950 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1074+261C>T |
single nucleotide variant |
not provided [RCV001575545] |
Chr6:43605580 [GRCh38]
Chr6:43573317 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1078dup (p.Asp360fs) |
duplication |
Xeroderma pigmentosum [RCV002266426]|not provided [RCV003560904] |
Chr6:43610556..43610557 [GRCh38]
Chr6:43578293..43578294 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_42928506)_(43737486_?)del |
deletion |
not provided [RCV001384708] |
Chr6:42928506..43737486 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1074+178T>G |
single nucleotide variant |
not provided [RCV001670901] |
Chr6:43605497 [GRCh38]
Chr6:43573234 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.884+21A>T |
single nucleotide variant |
not provided [RCV001686911] |
Chr6:43604032 [GRCh38]
Chr6:43571769 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.137+72GTG[8] |
microsatellite |
not provided [RCV001613667] |
Chr6:43582527..43582528 [GRCh38]
Chr6:43550264..43550265 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) |
single nucleotide variant |
POLH-related disorder [RCV003960970]|Xeroderma pigmentosum [RCV002258726]|not provided [RCV003325597] |
Chr6:43604730 [GRCh38]
Chr6:43572467 [GRCh37]
Chr6:6p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_006502.3(POLH):c.1833A>G (p.Lys611=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258732]|not provided [RCV003546741] |
Chr6:43614248 [GRCh38]
Chr6:43581985 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.413C>T (p.Ser138Leu) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258735]|not provided [RCV003426371] |
Chr6:43587412 [GRCh38]
Chr6:43555149 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.638C>G (p.Ser213Ter) |
single nucleotide variant |
See cases [RCV002252782]|Xeroderma pigmentosum variant type [RCV002250252] |
Chr6:43597843 [GRCh38]
Chr6:43565580 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic |
| NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del) |
deletion |
Xeroderma pigmentosum [RCV002258728] |
Chr6:43613832..43613837 [GRCh38]
Chr6:43581569..43581574 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.424T>C (p.Leu142=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258736]|not provided [RCV005095911] |
Chr6:43587423 [GRCh38]
Chr6:43555160 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.764+2dup |
duplication |
Xeroderma pigmentosum [RCV002258739] |
Chr6:43601092..43601093 [GRCh38]
Chr6:43568829..43568830 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.134G>A (p.Gly45Asp) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259287] |
Chr6:43582453 [GRCh38]
Chr6:43550190 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.545A>G (p.Asn182Ser) |
single nucleotide variant |
not provided [RCV001767229] |
Chr6:43597750 [GRCh38]
Chr6:43565487 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1111C>T (p.Arg371Cys) |
single nucleotide variant |
not provided [RCV001768861] |
Chr6:43610590 [GRCh38]
Chr6:43578327 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.-4-3C>T |
single nucleotide variant |
not provided [RCV001769146] |
Chr6:43582313 [GRCh38]
Chr6:43550050 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.672_673insT (p.Leu225fs) |
insertion |
Xeroderma pigmentosum variant type [RCV001779220]|not provided [RCV003771422] |
Chr6:43600999..43601000 [GRCh38]
Chr6:43568736..43568737 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1561C>T (p.Gln521Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV001808275] |
Chr6:43613976 [GRCh38]
Chr6:43581713 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.332G>A (p.Arg111His) |
single nucleotide variant |
not specified [RCV001806749] |
Chr6:43587331 [GRCh38]
Chr6:43555068 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.568C>T (p.Leu190Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004664514] |
Chr6:43597773 [GRCh38]
Chr6:43565510 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.2009A>G (p.Asn670Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004953122]|not specified [RCV001844632] |
Chr6:43614424 [GRCh38]
Chr6:43582161 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.1066C>T (p.Arg356Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV003994368]|not provided [RCV001963029] |
Chr6:43605311 [GRCh38]
Chr6:43573048 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.2119T>G (p.Phe707Val) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258734] |
Chr6:43614534 [GRCh38]
Chr6:43582271 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.467C>T (p.Thr156Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003101434]|Xeroderma pigmentosum [RCV002258737] |
Chr6:43587466 [GRCh38]
Chr6:43555203 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1977G>A (p.Leu659=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259288]|not provided [RCV003774798] |
Chr6:43614392 [GRCh38]
Chr6:43582129 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NC_000006.11:g.(?_41126341)_(43752536_?)del |
deletion |
Peroxisome biogenesis disorder [RCV003110948] |
Chr6:41126341..43752536 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_41126341)_(43737486_?)dup |
duplication |
PRPH2-related disorder [RCV003111022] |
Chr6:41126341..43737486 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1491G>A (p.Ser497=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258729]|not provided [RCV003774797] |
Chr6:43613906 [GRCh38]
Chr6:43581643 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1635T>G (p.Asn545Lys) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258730] |
Chr6:43614050 [GRCh38]
Chr6:43581787 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1656C>G (p.Pro552=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258731]|not provided [RCV003095858] |
Chr6:43614071 [GRCh38]
Chr6:43581808 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1959T>C (p.Tyr653=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258733]|not provided [RCV003728057] |
Chr6:43614374 [GRCh38]
Chr6:43582111 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.723G>A (p.Gly241=) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258738]|not provided [RCV003679084] |
Chr6:43601050 [GRCh38]
Chr6:43568787 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002259286] |
Chr6:43610660 [GRCh38]
Chr6:43578397 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.112C>G (p.Gln38Glu) |
single nucleotide variant |
Xeroderma pigmentosum [RCV002258727] |
Chr6:43582431 [GRCh38]
Chr6:43550168 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.884+20dup |
duplication |
Xeroderma pigmentosum [RCV002258740]|not provided [RCV003101435] |
Chr6:43604023..43604024 [GRCh38]
Chr6:43571760..43571761 [GRCh37]
Chr6:6p21.1 |
benign|likely benign |
| NM_006502.3(POLH):c.210G>T (p.Lys70Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004958508]|Xeroderma pigmentosum [RCV002259289] |
Chr6:43583079 [GRCh38]
Chr6:43550816 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.490+3A>G |
single nucleotide variant |
not specified [RCV003231018] |
Chr6:43587492 [GRCh38]
Chr6:43555229 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1756G>C (p.Glu586Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002685012] |
Chr6:43614171 [GRCh38]
Chr6:43581908 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.490+12G>A |
single nucleotide variant |
not provided [RCV002776052] |
Chr6:43587501 [GRCh38]
Chr6:43555238 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1525A>G (p.Met509Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002732514] |
Chr6:43613940 [GRCh38]
Chr6:43581677 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1165C>T (p.Arg389Cys) |
single nucleotide variant |
not provided [RCV002775161] |
Chr6:43610644 [GRCh38]
Chr6:43578381 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3 |
copy number gain |
not provided [RCV002475643] |
Chr6:43571555..44154599 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1745C>T (p.Ser582Leu) |
single nucleotide variant |
not provided [RCV002967823] |
Chr6:43614160 [GRCh38]
Chr6:43581897 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1952T>C (p.Met651Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002734232]|not provided [RCV003111768] |
Chr6:43614367 [GRCh38]
Chr6:43582104 [GRCh37]
Chr6:6p21.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del |
deletion |
Xeroderma pigmentosum [RCV002510287] |
Chr6:43555008..43565603 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.736C>T (p.Leu246Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002925682] |
Chr6:43601063 [GRCh38]
Chr6:43568800 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1192G>T (p.Asp398Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002949765] |
Chr6:43610671 [GRCh38]
Chr6:43578408 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.902T>C (p.Met301Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002869718] |
Chr6:43604632 [GRCh38]
Chr6:43572369 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.884+20T>A |
single nucleotide variant |
not provided [RCV002576258] |
Chr6:43604031 [GRCh38]
Chr6:43571768 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.730C>G (p.Pro244Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002701641] |
Chr6:43601057 [GRCh38]
Chr6:43568794 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.661-16_661-9dup |
duplication |
not provided [RCV002574112] |
Chr6:43600971..43600972 [GRCh38]
Chr6:43568708..43568709 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.272+1G>C |
single nucleotide variant |
not provided [RCV002835185] |
Chr6:43583142 [GRCh38]
Chr6:43550879 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.544A>C (p.Asn182His) |
single nucleotide variant |
Inborn genetic diseases [RCV002677615] |
Chr6:43597749 [GRCh38]
Chr6:43565486 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1613T>C (p.Leu538Pro) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV003135092]|not provided [RCV003730403] |
Chr6:43614028 [GRCh38]
Chr6:43581765 [GRCh37]
Chr6:6p21.1 |
likely benign|uncertain significance |
| NM_006502.3(POLH):c.1222_1225del (p.Thr408fs) |
deletion |
POLH-related disorder [RCV003420564]|Xeroderma pigmentosum variant type [RCV003140440]|not provided [RCV003561181] |
Chr6:43610700..43610703 [GRCh38]
Chr6:43578437..43578440 [GRCh37]
Chr6:6p21.1 |
pathogenic|likely pathogenic |
| NM_006502.3(POLH):c.1463C>T (p.Ala488Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003199847] |
Chr6:43613878 [GRCh38]
Chr6:43581615 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1505C>T (p.Thr502Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003208799] |
Chr6:43613920 [GRCh38]
Chr6:43581657 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1075-6C>T |
single nucleotide variant |
not provided [RCV003709106] |
Chr6:43610548 [GRCh38]
Chr6:43578285 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.138-18T>G |
single nucleotide variant |
not provided [RCV003709858] |
Chr6:43582989 [GRCh38]
Chr6:43550726 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1539A>G (p.Pro513=) |
single nucleotide variant |
not provided [RCV003726415] |
Chr6:43613954 [GRCh38]
Chr6:43581691 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1615del (p.Leu538_Leu539insTer) |
deletion |
not provided [RCV003726668] |
Chr6:43614030 [GRCh38]
Chr6:43581767 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.884+20del |
deletion |
not provided [RCV003672739] |
Chr6:43604024 [GRCh38]
Chr6:43571761 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.24G>T (p.Val8=) |
single nucleotide variant |
not provided [RCV003673562] |
Chr6:43582343 [GRCh38]
Chr6:43550080 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.114G>A (p.Gln38=) |
single nucleotide variant |
not provided [RCV003873005] |
Chr6:43582433 [GRCh38]
Chr6:43550170 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.228A>G (p.Leu76=) |
single nucleotide variant |
not provided [RCV003709907] |
Chr6:43583097 [GRCh38]
Chr6:43550834 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.792C>T (p.Ala264=) |
single nucleotide variant |
not provided [RCV003710336] |
Chr6:43603919 [GRCh38]
Chr6:43571656 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.660+16A>G |
single nucleotide variant |
not provided [RCV003711752] |
Chr6:43597881 [GRCh38]
Chr6:43565618 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.9T>G (p.Thr3=) |
single nucleotide variant |
not provided [RCV003712500] |
Chr6:43582328 [GRCh38]
Chr6:43550065 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1257C>T (p.Leu419=) |
single nucleotide variant |
not provided [RCV003739804] |
Chr6:43613672 [GRCh38]
Chr6:43581409 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.884+1G>A |
single nucleotide variant |
not provided [RCV003714262] |
Chr6:43604012 [GRCh38]
Chr6:43571749 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.552C>G (p.Thr184=) |
single nucleotide variant |
not provided [RCV003729728] |
Chr6:43597757 [GRCh38]
Chr6:43565494 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.432C>T (p.Ser144=) |
single nucleotide variant |
not provided [RCV003664859] |
Chr6:43587431 [GRCh38]
Chr6:43555168 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1407G>A (p.Ala469=) |
single nucleotide variant |
not provided [RCV003715936] |
Chr6:43613822 [GRCh38]
Chr6:43581559 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.168A>G (p.Ala56=) |
single nucleotide variant |
not provided [RCV003716605] |
Chr6:43583037 [GRCh38]
Chr6:43550774 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-8C>T |
single nucleotide variant |
not provided [RCV003716851] |
Chr6:43587264 [GRCh38]
Chr6:43555001 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1024T>C (p.Leu342=) |
single nucleotide variant |
not provided [RCV003717153] |
Chr6:43605269 [GRCh38]
Chr6:43573006 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.573C>A (p.Thr191=) |
single nucleotide variant |
not provided [RCV003730868] |
Chr6:43597778 [GRCh38]
Chr6:43565515 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1281A>G (p.Thr427=) |
single nucleotide variant |
not provided [RCV003739069] |
Chr6:43613696 [GRCh38]
Chr6:43581433 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1929G>A (p.Pro643=) |
single nucleotide variant |
not provided [RCV003733109] |
Chr6:43614344 [GRCh38]
Chr6:43582081 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.156T>C (p.Tyr52=) |
single nucleotide variant |
not provided [RCV003733365] |
Chr6:43583025 [GRCh38]
Chr6:43550762 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1548C>T (p.Pro516=) |
single nucleotide variant |
not provided [RCV003681521] |
Chr6:43613963 [GRCh38]
Chr6:43581700 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1500T>C (p.Ser500=) |
single nucleotide variant |
not provided [RCV003718825] |
Chr6:43613915 [GRCh38]
Chr6:43581652 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.381_384del (p.Glu127fs) |
microsatellite |
not provided [RCV003698594] |
Chr6:43587377..43587380 [GRCh38]
Chr6:43555114..43555117 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.137+13G>A |
single nucleotide variant |
not provided [RCV003698482] |
Chr6:43582469 [GRCh38]
Chr6:43550206 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.786A>G (p.Leu262=) |
single nucleotide variant |
not provided [RCV003733875] |
Chr6:43603913 [GRCh38]
Chr6:43571650 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2031A>G (p.Val677=) |
single nucleotide variant |
not provided [RCV003666064] |
Chr6:43614446 [GRCh38]
Chr6:43582183 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1770A>C (p.Ala590=) |
single nucleotide variant |
not provided [RCV003714040] |
Chr6:43614185 [GRCh38]
Chr6:43581922 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1650T>C (p.Ser550=) |
single nucleotide variant |
not provided [RCV003717124] |
Chr6:43614065 [GRCh38]
Chr6:43581802 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1749G>A (p.Lys583=) |
single nucleotide variant |
not provided [RCV003719019] |
Chr6:43614164 [GRCh38]
Chr6:43581901 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.678C>T (p.Ala226=) |
single nucleotide variant |
not provided [RCV003739602] |
Chr6:43601005 [GRCh38]
Chr6:43568742 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.996T>C (p.Ala332=) |
single nucleotide variant |
not provided [RCV003658981] |
Chr6:43604726 [GRCh38]
Chr6:43572463 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1293C>T (p.Ala431=) |
single nucleotide variant |
not provided [RCV003659797] |
Chr6:43613708 [GRCh38]
Chr6:43581445 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-10T>C |
single nucleotide variant |
not provided [RCV003663018] |
Chr6:43587262 [GRCh38]
Chr6:43554999 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1656C>T (p.Pro552=) |
single nucleotide variant |
not provided [RCV003685051] |
Chr6:43614071 [GRCh38]
Chr6:43581808 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1075-13T>G |
single nucleotide variant |
not provided [RCV003685413] |
Chr6:43610541 [GRCh38]
Chr6:43578278 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.764+17C>T |
single nucleotide variant |
not provided [RCV003681542] |
Chr6:43601108 [GRCh38]
Chr6:43568845 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1110T>C (p.Ile370=) |
single nucleotide variant |
not provided [RCV003667004] |
Chr6:43610589 [GRCh38]
Chr6:43578326 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.312T>A (p.Ser104=) |
single nucleotide variant |
not provided [RCV003667154] |
Chr6:43587311 [GRCh38]
Chr6:43555048 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.102T>C (p.Cys34=) |
single nucleotide variant |
not provided [RCV003667225] |
Chr6:43582421 [GRCh38]
Chr6:43550158 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1272C>T (p.Leu424=) |
single nucleotide variant |
not provided [RCV003688739] |
Chr6:43613687 [GRCh38]
Chr6:43581424 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1563A>G (p.Gln521=) |
single nucleotide variant |
not provided [RCV003693548] |
Chr6:43613978 [GRCh38]
Chr6:43581715 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1242A>G (p.Glu414=) |
single nucleotide variant |
not provided [RCV003695397] |
Chr6:43610721 [GRCh38]
Chr6:43578458 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1244+8C>A |
single nucleotide variant |
not provided [RCV003721096] |
Chr6:43610731 [GRCh38]
Chr6:43578468 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1755A>G (p.Glu585=) |
single nucleotide variant |
not provided [RCV003664307] |
Chr6:43614170 [GRCh38]
Chr6:43581907 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.120A>G (p.Lys40=) |
single nucleotide variant |
not provided [RCV003671566] |
Chr6:43582439 [GRCh38]
Chr6:43550176 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.764+13G>A |
single nucleotide variant |
not provided [RCV003671594] |
Chr6:43601104 [GRCh38]
Chr6:43568841 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1041A>G (p.Glu347=) |
single nucleotide variant |
not provided [RCV003691039] |
Chr6:43605286 [GRCh38]
Chr6:43573023 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.24G>A (p.Val8=) |
single nucleotide variant |
POLH-related disorder [RCV004750406]|not provided [RCV003691533] |
Chr6:43582343 [GRCh38]
Chr6:43550080 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.837C>T (p.Thr279=) |
single nucleotide variant |
not provided [RCV003691685] |
Chr6:43603964 [GRCh38]
Chr6:43571701 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.348G>A (p.Glu116=) |
single nucleotide variant |
not provided [RCV003692074] |
Chr6:43587347 [GRCh38]
Chr6:43555084 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.546C>T (p.Asn182=) |
single nucleotide variant |
not provided [RCV003697530] |
Chr6:43597751 [GRCh38]
Chr6:43565488 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1029A>G (p.Gln343=) |
single nucleotide variant |
not provided [RCV003731874] |
Chr6:43605274 [GRCh38]
Chr6:43573011 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-17A>G |
single nucleotide variant |
not provided [RCV003671902] |
Chr6:43600971 [GRCh38]
Chr6:43568708 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1659A>G (p.Gln553=) |
single nucleotide variant |
not provided [RCV003671992] |
Chr6:43614074 [GRCh38]
Chr6:43581811 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1413A>G (p.Thr471=) |
single nucleotide variant |
not provided [RCV003673317] |
Chr6:43613828 [GRCh38]
Chr6:43581565 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1008+18A>G |
single nucleotide variant |
not provided [RCV003693070] |
Chr6:43604756 [GRCh38]
Chr6:43572493 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.729C>T (p.Val243=) |
single nucleotide variant |
not provided [RCV003693479] |
Chr6:43601056 [GRCh38]
Chr6:43568793 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1398T>C (p.Ser466=) |
single nucleotide variant |
not provided [RCV003694018] |
Chr6:43613813 [GRCh38]
Chr6:43581550 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.759C>T (p.Arg253=) |
single nucleotide variant |
not provided [RCV003694038] |
Chr6:43601086 [GRCh38]
Chr6:43568823 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1195del (p.Ala399fs) |
deletion |
not provided [RCV003700302] |
Chr6:43610674 [GRCh38]
Chr6:43578411 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.490+7C>G |
single nucleotide variant |
not provided [RCV003679789] |
Chr6:43587496 [GRCh38]
Chr6:43555233 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1075-13T>C |
single nucleotide variant |
not provided [RCV003687450] |
Chr6:43610541 [GRCh38]
Chr6:43578278 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.885-17T>C |
single nucleotide variant |
not provided [RCV003675756] |
Chr6:43604598 [GRCh38]
Chr6:43572335 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.861G>A (p.Gln287=) |
single nucleotide variant |
not provided [RCV003677277] |
Chr6:43603988 [GRCh38]
Chr6:43571725 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.921T>C (p.His307=) |
single nucleotide variant |
not provided [RCV003678334] |
Chr6:43604651 [GRCh38]
Chr6:43572388 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.768T>C (p.Arg256=) |
single nucleotide variant |
not provided [RCV003700672] |
Chr6:43603895 [GRCh38]
Chr6:43571632 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1365A>G (p.Pro455=) |
single nucleotide variant |
not provided [RCV003701067] |
Chr6:43613780 [GRCh38]
Chr6:43581517 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.210G>A (p.Lys70=) |
single nucleotide variant |
not provided [RCV003702547] |
Chr6:43583079 [GRCh38]
Chr6:43550816 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.267C>A (p.Leu89=) |
single nucleotide variant |
not provided [RCV003697860] |
Chr6:43583136 [GRCh38]
Chr6:43550873 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1893C>T (p.Asp631=) |
single nucleotide variant |
not provided [RCV003701395] |
Chr6:43614308 [GRCh38]
Chr6:43582045 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-2A>T |
single nucleotide variant |
not provided [RCV003704464] |
Chr6:43600986 [GRCh38]
Chr6:43568723 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.1359G>A (p.Lys453=) |
single nucleotide variant |
not provided [RCV003709819] |
Chr6:43613774 [GRCh38]
Chr6:43581511 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.582A>T (p.Ala194=) |
single nucleotide variant |
not provided [RCV003722447] |
Chr6:43597787 [GRCh38]
Chr6:43565524 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.495G>C (p.Gly165=) |
single nucleotide variant |
not provided [RCV003665997] |
Chr6:43597700 [GRCh38]
Chr6:43565437 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1578A>G (p.Thr526=) |
single nucleotide variant |
not provided [RCV003702687] |
Chr6:43613993 [GRCh38]
Chr6:43581730 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.54del (p.Phe18fs) |
deletion |
not provided [RCV003704843] |
Chr6:43582367 [GRCh38]
Chr6:43550104 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.2004T>C (p.Ser668=) |
single nucleotide variant |
not provided [RCV003710604] |
Chr6:43614419 [GRCh38]
Chr6:43582156 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.894A>G (p.Leu298=) |
single nucleotide variant |
not provided [RCV003715922] |
Chr6:43604624 [GRCh38]
Chr6:43572361 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1608T>C (p.Ser536=) |
single nucleotide variant |
not provided [RCV003716630] |
Chr6:43614023 [GRCh38]
Chr6:43581760 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1074+15_1074+18del |
microsatellite |
not provided [RCV003723419] |
Chr6:43605327..43605330 [GRCh38]
Chr6:43573064..43573067 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-8G>C |
single nucleotide variant |
not provided [RCV003723652] |
Chr6:43600980 [GRCh38]
Chr6:43568717 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.562C>T (p.Leu188=) |
single nucleotide variant |
not provided [RCV003737221] |
Chr6:43597767 [GRCh38]
Chr6:43565504 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-7T>G |
single nucleotide variant |
not provided [RCV003705064] |
Chr6:43587265 [GRCh38]
Chr6:43555002 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.375A>G (p.Val125=) |
single nucleotide variant |
not provided [RCV003705674] |
Chr6:43587374 [GRCh38]
Chr6:43555111 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.885-6T>A |
single nucleotide variant |
not provided [RCV003706667] |
Chr6:43604609 [GRCh38]
Chr6:43572346 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2076T>G (p.Thr692=) |
single nucleotide variant |
not provided [RCV003436556] |
Chr6:43614491 [GRCh38]
Chr6:43582228 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2007A>G (p.Ser669=) |
single nucleotide variant |
POLH-related disorder [RCV003946606]|not provided [RCV003436555] |
Chr6:43614422 [GRCh38]
Chr6:43582159 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.571A>C (p.Thr191Pro) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV003479531]|not provided [RCV003779188] |
Chr6:43597776 [GRCh38]
Chr6:43565513 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.660+7G>A |
single nucleotide variant |
not provided [RCV003882491] |
Chr6:43597872 [GRCh38]
Chr6:43565609 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1008+20A>G |
single nucleotide variant |
not provided [RCV003831200] |
Chr6:43604758 [GRCh38]
Chr6:43572495 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-5C>T |
single nucleotide variant |
not provided [RCV003879667] |
Chr6:43587267 [GRCh38]
Chr6:43555004 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.388C>T (p.Gln130Ter) |
single nucleotide variant |
not provided [RCV003542976] |
Chr6:43587387 [GRCh38]
Chr6:43555124 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1725C>T (p.Val575=) |
single nucleotide variant |
not provided [RCV003547329] |
Chr6:43614140 [GRCh38]
Chr6:43581877 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.838C>T (p.Gln280Ter) |
single nucleotide variant |
not provided [RCV003549163] |
Chr6:43603965 [GRCh38]
Chr6:43571702 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1035C>T (p.Ala345=) |
single nucleotide variant |
not provided [RCV003549497] |
Chr6:43605280 [GRCh38]
Chr6:43573017 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.491-8C>G |
single nucleotide variant |
not provided [RCV003543964] |
Chr6:43597688 [GRCh38]
Chr6:43565425 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.764+15A>G |
single nucleotide variant |
not provided [RCV003550652] |
Chr6:43601106 [GRCh38]
Chr6:43568843 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1239A>G (p.Thr413=) |
single nucleotide variant |
not provided [RCV003559460] |
Chr6:43610718 [GRCh38]
Chr6:43578455 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.855G>A (p.Gln285=) |
single nucleotide variant |
not provided [RCV003564849] |
Chr6:43603982 [GRCh38]
Chr6:43571719 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-11C>T |
single nucleotide variant |
not provided [RCV003567261] |
Chr6:43600977 [GRCh38]
Chr6:43568714 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.272+9A>T |
single nucleotide variant |
not provided [RCV003573056] |
Chr6:43583150 [GRCh38]
Chr6:43550887 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1019G>A (p.Trp340Ter) |
single nucleotide variant |
not provided [RCV003573149] |
Chr6:43605264 [GRCh38]
Chr6:43573001 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.490+20C>A |
single nucleotide variant |
not provided [RCV003573718] |
Chr6:43587509 [GRCh38]
Chr6:43555246 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1212G>A (p.Lys404=) |
single nucleotide variant |
not provided [RCV003571302] |
Chr6:43610691 [GRCh38]
Chr6:43578428 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1815C>T (p.His605=) |
single nucleotide variant |
not provided [RCV003575933] |
Chr6:43614230 [GRCh38]
Chr6:43581967 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1890G>A (p.Glu630=) |
single nucleotide variant |
not provided [RCV003826740] |
Chr6:43614305 [GRCh38]
Chr6:43582042 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2007A>C (p.Ser669=) |
single nucleotide variant |
not provided [RCV003577425] |
Chr6:43614422 [GRCh38]
Chr6:43582159 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1969T>C (p.Leu657=) |
single nucleotide variant |
not provided [RCV003548196] |
Chr6:43614384 [GRCh38]
Chr6:43582121 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.499C>T (p.Arg167Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV003991058]|not provided [RCV003555256] |
Chr6:43597704 [GRCh38]
Chr6:43565441 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1657dup (p.Gln553fs) |
duplication |
not provided [RCV003555260] |
Chr6:43614066..43614067 [GRCh38]
Chr6:43581803..43581804 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1497A>G (p.Ser499=) |
single nucleotide variant |
not provided [RCV003559480] |
Chr6:43613912 [GRCh38]
Chr6:43581649 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.942A>G (p.Gln314=) |
single nucleotide variant |
not provided [RCV003561732] |
Chr6:43604672 [GRCh38]
Chr6:43572409 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1009-18G>A |
single nucleotide variant |
not provided [RCV003562279] |
Chr6:43605236 [GRCh38]
Chr6:43572973 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1244+19C>T |
single nucleotide variant |
not provided [RCV003550822] |
Chr6:43610742 [GRCh38]
Chr6:43578479 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2055C>G (p.Pro685=) |
single nucleotide variant |
not provided [RCV003551587] |
Chr6:43614470 [GRCh38]
Chr6:43582207 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.437dup (p.Tyr146Ter) |
duplication |
not provided [RCV003555255] |
Chr6:43587435..43587436 [GRCh38]
Chr6:43555172..43555173 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.897T>G (p.Tyr299Ter) |
single nucleotide variant |
not provided [RCV003555259] |
Chr6:43604627 [GRCh38]
Chr6:43572364 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.88A>C (p.Arg30=) |
single nucleotide variant |
not provided [RCV003825272] |
Chr6:43582407 [GRCh38]
Chr6:43550144 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1665C>T (p.Asn555=) |
single nucleotide variant |
not provided [RCV003559975] |
Chr6:43614080 [GRCh38]
Chr6:43581817 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.885-7T>C |
single nucleotide variant |
not provided [RCV003563065] |
Chr6:43604608 [GRCh38]
Chr6:43572345 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1038G>A (p.Gln346=) |
single nucleotide variant |
not provided [RCV003563863] |
Chr6:43605283 [GRCh38]
Chr6:43573020 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1806A>G (p.Gln602=) |
single nucleotide variant |
not provided [RCV003564154] |
Chr6:43614221 [GRCh38]
Chr6:43581958 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.417A>T (p.Ala139=) |
single nucleotide variant |
not provided [RCV003560737] |
Chr6:43587416 [GRCh38]
Chr6:43555153 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.764+18A>G |
single nucleotide variant |
not provided [RCV003560464] |
Chr6:43601109 [GRCh38]
Chr6:43568846 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1995G>A (p.Gln665=) |
single nucleotide variant |
not provided [RCV003829445] |
Chr6:43614410 [GRCh38]
Chr6:43582147 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.807C>A (p.Ile269=) |
single nucleotide variant |
not provided [RCV003569890] |
Chr6:43603934 [GRCh38]
Chr6:43571671 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1899G>T (p.Val633=) |
single nucleotide variant |
not provided [RCV003572243] |
Chr6:43614314 [GRCh38]
Chr6:43582051 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-9A>G |
single nucleotide variant |
not provided [RCV003572914] |
Chr6:43587263 [GRCh38]
Chr6:43555000 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.202dup (p.Ala68fs) |
duplication |
not provided [RCV003571750] |
Chr6:43583070..43583071 [GRCh38]
Chr6:43550807..43550808 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.765-21_765-18del |
deletion |
not provided [RCV003579013] |
Chr6:43603869..43603872 [GRCh38]
Chr6:43571606..43571609 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.651A>C (p.Ser217=) |
single nucleotide variant |
not provided [RCV003831050] |
Chr6:43597856 [GRCh38]
Chr6:43565593 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.990T>C (p.Ala330=) |
single nucleotide variant |
not provided [RCV003547737] |
Chr6:43604720 [GRCh38]
Chr6:43572457 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1075-4A>G |
single nucleotide variant |
not provided [RCV003549540] |
Chr6:43610550 [GRCh38]
Chr6:43578287 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1671G>A (p.Trp557Ter) |
single nucleotide variant |
not provided [RCV003580385] |
Chr6:43614086 [GRCh38]
Chr6:43581823 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.138-10C>T |
single nucleotide variant |
not provided [RCV003579335] |
Chr6:43582997 [GRCh38]
Chr6:43550734 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1074+8T>A |
single nucleotide variant |
not provided [RCV003541789] |
Chr6:43605327 [GRCh38]
Chr6:43573064 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.137+16A>T |
single nucleotide variant |
not provided [RCV003879861] |
Chr6:43582472 [GRCh38]
Chr6:43550209 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.273-10T>A |
single nucleotide variant |
not provided [RCV003551961] |
Chr6:43587262 [GRCh38]
Chr6:43554999 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.918A>G (p.Glu306=) |
single nucleotide variant |
not provided [RCV003546968] |
Chr6:43604648 [GRCh38]
Chr6:43572385 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1092C>G (p.Thr364=) |
single nucleotide variant |
not provided [RCV003548482] |
Chr6:43610571 [GRCh38]
Chr6:43578308 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.798C>A (p.Val266=) |
single nucleotide variant |
not provided [RCV003550199] |
Chr6:43603925 [GRCh38]
Chr6:43571662 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.353dup (p.Tyr118Ter) |
duplication |
not provided [RCV003555254] |
Chr6:43587351..43587352 [GRCh38]
Chr6:43555088..43555089 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.764+1G>C |
single nucleotide variant |
not provided [RCV003555257] |
Chr6:43601092 [GRCh38]
Chr6:43568829 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.1605A>G (p.Lys535=) |
single nucleotide variant |
not provided [RCV003826282] |
Chr6:43614020 [GRCh38]
Chr6:43581757 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.491-17T>C |
single nucleotide variant |
not provided [RCV003562414] |
Chr6:43597679 [GRCh38]
Chr6:43565416 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-19A>G |
single nucleotide variant |
not provided [RCV003567490] |
Chr6:43600969 [GRCh38]
Chr6:43568706 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.138-12T>G |
single nucleotide variant |
not provided [RCV003579197] |
Chr6:43582995 [GRCh38]
Chr6:43550732 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1746G>A (p.Ser582=) |
single nucleotide variant |
not provided [RCV003825372] |
Chr6:43614161 [GRCh38]
Chr6:43581898 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1007del (p.Gln336fs) |
deletion |
not provided [RCV003570219] |
Chr6:43604737 [GRCh38]
Chr6:43572474 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.885-15del |
deletion |
not provided [RCV003852214] |
Chr6:43604595 [GRCh38]
Chr6:43572332 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.138-11del |
deletion |
not provided [RCV003835852] |
Chr6:43582989 [GRCh38]
Chr6:43550726 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.675G>A (p.Leu225=) |
single nucleotide variant |
not provided [RCV003831935] |
Chr6:43601002 [GRCh38]
Chr6:43568739 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.319del (p.Ala107fs) |
deletion |
not provided [RCV005170457] |
Chr6:43587318 [GRCh38]
Chr6:43555055 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.297G>A (p.Val99=) |
single nucleotide variant |
not provided [RCV003832215] |
Chr6:43587296 [GRCh38]
Chr6:43555033 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1074+11C>A |
single nucleotide variant |
not provided [RCV003810900] |
Chr6:43605330 [GRCh38]
Chr6:43573067 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.957T>A (p.Ile319=) |
single nucleotide variant |
not provided [RCV003832495] |
Chr6:43604687 [GRCh38]
Chr6:43572424 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.701G>A (p.Arg234His) |
single nucleotide variant |
Inborn genetic diseases [RCV004512228] |
Chr6:43601028 [GRCh38]
Chr6:43568765 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1113T>C (p.Arg371=) |
single nucleotide variant |
not provided [RCV003840475] |
Chr6:43610592 [GRCh38]
Chr6:43578329 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1021C>T (p.Leu341=) |
single nucleotide variant |
not provided [RCV003840351] |
Chr6:43605266 [GRCh38]
Chr6:43573003 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1863C>A (p.Thr621=) |
single nucleotide variant |
not provided [RCV003833192] |
Chr6:43614278 [GRCh38]
Chr6:43582015 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.146C>T (p.Ala49Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004512223] |
Chr6:43583015 [GRCh38]
Chr6:43550752 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.767G>A (p.Arg256His) |
single nucleotide variant |
Inborn genetic diseases [RCV004512230] |
Chr6:43603894 [GRCh38]
Chr6:43571631 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.950A>G (p.Lys317Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004512231] |
Chr6:43604680 [GRCh38]
Chr6:43572417 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.165T>C (p.Arg55=) |
single nucleotide variant |
not provided [RCV003834701] |
Chr6:43583034 [GRCh38]
Chr6:43550771 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.33C>T (p.Leu11=) |
single nucleotide variant |
not provided [RCV003849736] |
Chr6:43582352 [GRCh38]
Chr6:43550089 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.138-11dup |
duplication |
not provided [RCV003832006] |
Chr6:43582988..43582989 [GRCh38]
Chr6:43550725..43550726 [GRCh37]
Chr6:6p21.1 |
benign |
| NM_006502.3(POLH):c.885-4T>C |
single nucleotide variant |
not provided [RCV003836882] |
Chr6:43604611 [GRCh38]
Chr6:43572348 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1836T>C (p.Ser612=) |
single nucleotide variant |
not provided [RCV003835236] |
Chr6:43614251 [GRCh38]
Chr6:43581988 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.354C>T (p.Tyr118=) |
single nucleotide variant |
not provided [RCV003832020] |
Chr6:43587353 [GRCh38]
Chr6:43555090 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1860A>C (p.Ala620=) |
single nucleotide variant |
not provided [RCV003838040] |
Chr6:43614275 [GRCh38]
Chr6:43582012 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1244+16G>A |
single nucleotide variant |
not provided [RCV003854676] |
Chr6:43610739 [GRCh38]
Chr6:43578476 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.468G>A (p.Thr156=) |
single nucleotide variant |
not provided [RCV003849762] |
Chr6:43587467 [GRCh38]
Chr6:43555204 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.438C>T (p.Tyr146=) |
single nucleotide variant |
not provided [RCV003816422] |
Chr6:43587437 [GRCh38]
Chr6:43555174 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.137+11T>C |
single nucleotide variant |
not provided [RCV003837406] |
Chr6:43582467 [GRCh38]
Chr6:43550204 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1245-8C>T |
single nucleotide variant |
not provided [RCV003846143] |
Chr6:43613652 [GRCh38]
Chr6:43581389 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.272+11A>C |
single nucleotide variant |
not provided [RCV003848400] |
Chr6:43583152 [GRCh38]
Chr6:43550889 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.884+18T>C |
single nucleotide variant |
not provided [RCV003858532] |
Chr6:43604029 [GRCh38]
Chr6:43571766 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.490+17A>G |
single nucleotide variant |
not provided [RCV003821080] |
Chr6:43587506 [GRCh38]
Chr6:43555243 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.272+8A>G |
single nucleotide variant |
not provided [RCV003841658] |
Chr6:43583149 [GRCh38]
Chr6:43550886 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.885-14G>A |
single nucleotide variant |
not provided [RCV003844478] |
Chr6:43604601 [GRCh38]
Chr6:43572338 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1965T>C (p.Phe655=) |
single nucleotide variant |
not provided [RCV003863503] |
Chr6:43614380 [GRCh38]
Chr6:43582117 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1008+15T>C |
single nucleotide variant |
not provided [RCV003841633] |
Chr6:43604753 [GRCh38]
Chr6:43572490 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.387A>C (p.Leu129=) |
single nucleotide variant |
not provided [RCV003868873] |
Chr6:43587386 [GRCh38]
Chr6:43555123 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1776T>A (p.Pro592=) |
single nucleotide variant |
not provided [RCV003867158] |
Chr6:43614191 [GRCh38]
Chr6:43581928 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.661-10A>C |
single nucleotide variant |
not provided [RCV003867934] |
Chr6:43600978 [GRCh38]
Chr6:43568715 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.387A>G (p.Leu129=) |
single nucleotide variant |
not provided [RCV003872064] |
Chr6:43587386 [GRCh38]
Chr6:43555123 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1244+1G>A |
single nucleotide variant |
not provided [RCV003867115] |
Chr6:43610724 [GRCh38]
Chr6:43578461 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.272+18_272+21del |
deletion |
not provided [RCV003846986] |
Chr6:43583156..43583159 [GRCh38]
Chr6:43550893..43550896 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.385C>T (p.Leu129=) |
single nucleotide variant |
not provided [RCV003819198] |
Chr6:43587384 [GRCh38]
Chr6:43555121 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.168A>T (p.Ala56=) |
single nucleotide variant |
not provided [RCV003864101] |
Chr6:43583037 [GRCh38]
Chr6:43550774 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.303G>A (p.Glu101=) |
single nucleotide variant |
not provided [RCV003820855] |
Chr6:43587302 [GRCh38]
Chr6:43555039 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.2115A>G (p.Glu705=) |
single nucleotide variant |
not provided [RCV003840820] |
Chr6:43614530 [GRCh38]
Chr6:43582267 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.673C>T (p.Leu225=) |
single nucleotide variant |
not provided [RCV003863081] |
Chr6:43601000 [GRCh38]
Chr6:43568737 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.138-11T>C |
single nucleotide variant |
not provided [RCV003859965] |
Chr6:43582996 [GRCh38]
Chr6:43550733 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1332G>A (p.Leu444=) |
single nucleotide variant |
not provided [RCV003822653] |
Chr6:43613747 [GRCh38]
Chr6:43581484 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1075-10C>A |
single nucleotide variant |
not provided [RCV003866435] |
Chr6:43610544 [GRCh38]
Chr6:43578281 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1911G>A (p.Lys637=) |
single nucleotide variant |
not provided [RCV003857501] |
Chr6:43614326 [GRCh38]
Chr6:43582063 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.897T>C (p.Tyr299=) |
single nucleotide variant |
not provided [RCV003822699] |
Chr6:43604627 [GRCh38]
Chr6:43572364 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1936G>T (p.Asp646Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004512225] |
Chr6:43614351 [GRCh38]
Chr6:43582088 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1940T>G (p.Met647Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004512227] |
Chr6:43614355 [GRCh38]
Chr6:43582092 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1484A>C (p.Glu495Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004512224] |
Chr6:43613899 [GRCh38]
Chr6:43581636 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1393G>C (p.Gly465Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004512222] |
Chr6:43613808 [GRCh38]
Chr6:43581545 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.727G>T (p.Val243Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004512229] |
Chr6:43601054 [GRCh38]
Chr6:43568791 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1131C>T (p.Arg377=) |
single nucleotide variant |
not provided [RCV003887570] |
Chr6:43610610 [GRCh38]
Chr6:43578347 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NC_000006.11:g.(?_43568705)_(43568848_?)del |
deletion |
not provided [RCV004578848] |
Chr6:43568705..43568848 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43565413)_(43568848_?)del |
deletion |
not provided [RCV004578849] |
Chr6:43565413..43568848 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43571609)_(43573076_?)del |
deletion |
not provided [RCV004578850] |
Chr6:43571609..43573076 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43571609)_(43573076_?)dup |
duplication |
not provided [RCV004578852] |
Chr6:43571609..43573076 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.271A>G (p.Lys91Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004653740] |
Chr6:43583140 [GRCh38]
Chr6:43550877 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1001G>A (p.Arg334Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004653741] |
Chr6:43604731 [GRCh38]
Chr6:43572468 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NC_000006.11:g.(?_43578271)_(43578480_?)del |
deletion |
not provided [RCV004578845] |
Chr6:43578271..43578480 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43581377)_(43582294_?)del |
deletion |
not provided [RCV004578846] |
Chr6:43581377..43582294 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43554989)_(43555246_?)del |
deletion |
not provided [RCV004578847] |
Chr6:43554989..43555246 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NC_000006.11:g.(?_43565413)_(43573076_?)dup |
duplication |
not provided [RCV004578851] |
Chr6:43565413..43573076 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.1541C>G (p.Ser514Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004954343] |
Chr6:43613956 [GRCh38]
Chr6:43581693 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.364A>T (p.Thr122Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004954345] |
Chr6:43587363 [GRCh38]
Chr6:43555100 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1684G>C (p.Ala562Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004954340] |
Chr6:43614099 [GRCh38]
Chr6:43581836 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1156G>C (p.Ala386Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004954341] |
Chr6:43610635 [GRCh38]
Chr6:43578372 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1418C>T (p.Thr473Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004954342] |
Chr6:43613833 [GRCh38]
Chr6:43581570 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1579G>A (p.Gly527Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004954339] |
Chr6:43613994 [GRCh38]
Chr6:43581731 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1948C>G (p.His650Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004954344] |
Chr6:43614363 [GRCh38]
Chr6:43582100 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.19C>T (p.Arg7Ter) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV005045697] |
Chr6:43582338 [GRCh38]
Chr6:43550075 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.788G>T (p.Gly263Val) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV005045698] |
Chr6:43603915 [GRCh38]
Chr6:43571652 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.1727_1728del (p.Pro576fs) |
deletion |
Xeroderma pigmentosum variant type [RCV005045699] |
Chr6:43614142..43614143 [GRCh38]
Chr6:43581879..43581880 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.2130dup (p.Leu711fs) |
duplication |
Xeroderma pigmentosum variant type [RCV005045700] |
Chr6:43614544..43614545 [GRCh38]
Chr6:43582281..43582282 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.948C>G (p.Pro316=) |
single nucleotide variant |
not provided [RCV005170210] |
Chr6:43604678 [GRCh38]
Chr6:43572415 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.790G>C (p.Ala264Pro) |
single nucleotide variant |
not specified [RCV005088426] |
Chr6:43603917 [GRCh38]
Chr6:43571654 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.522G>T (p.Trp174Cys) |
single nucleotide variant |
not specified [RCV005088553] |
Chr6:43597727 [GRCh38]
Chr6:43565464 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.53_54del (p.Phe18fs) |
deletion |
Xeroderma pigmentosum variant type [RCV005039789] |
Chr6:43582367..43582368 [GRCh38]
Chr6:43550104..43550105 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.133G>A (p.Gly45Ser) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV005039790] |
Chr6:43582452 [GRCh38]
Chr6:43550189 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.533_534del (p.Leu178fs) |
deletion |
Xeroderma pigmentosum variant type [RCV005039791] |
Chr6:43597738..43597739 [GRCh38]
Chr6:43565475..43565476 [GRCh37]
Chr6:6p21.1 |
likely pathogenic |
| NM_006502.3(POLH):c.1490C>T (p.Ser497Leu) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV005039793] |
Chr6:43613905 [GRCh38]
Chr6:43581642 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.390A>G (p.Gln130=) |
single nucleotide variant |
not provided [RCV005124362] |
Chr6:43587389 [GRCh38]
Chr6:43555126 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1053A>G (p.Arg351=) |
single nucleotide variant |
not provided [RCV005117741] |
Chr6:43605298 [GRCh38]
Chr6:43573035 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1446A>T (p.Ser482=) |
single nucleotide variant |
not provided [RCV005122027] |
Chr6:43613861 [GRCh38]
Chr6:43581598 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.873G>A (p.Gly291=) |
single nucleotide variant |
not provided [RCV005118345] |
Chr6:43604000 [GRCh38]
Chr6:43571737 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1008+19C>T |
single nucleotide variant |
not provided [RCV005120068] |
Chr6:43604757 [GRCh38]
Chr6:43572494 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1707A>C (p.Thr569=) |
single nucleotide variant |
not provided [RCV005121812] |
Chr6:43614122 [GRCh38]
Chr6:43581859 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.273-20A>G |
single nucleotide variant |
not provided [RCV005166804] |
Chr6:43587252 [GRCh38]
Chr6:43554989 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.660+14G>A |
single nucleotide variant |
not provided [RCV005119576] |
Chr6:43597879 [GRCh38]
Chr6:43565616 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.573C>T (p.Thr191=) |
single nucleotide variant |
not provided [RCV005192889] |
Chr6:43597778 [GRCh38]
Chr6:43565515 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1009-6T>C |
single nucleotide variant |
not provided [RCV005119222] |
Chr6:43605248 [GRCh38]
Chr6:43572985 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.828T>C (p.Gly276=) |
single nucleotide variant |
not provided [RCV005120083] |
Chr6:43603955 [GRCh38]
Chr6:43571692 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1290T>G (p.Ser430=) |
single nucleotide variant |
not provided [RCV005117457] |
Chr6:43613705 [GRCh38]
Chr6:43581442 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1518G>A (p.Gln506=) |
single nucleotide variant |
not provided [RCV005084097] |
Chr6:43613933 [GRCh38]
Chr6:43581670 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.985dup (p.Thr329fs) |
duplication |
not provided [RCV005165977] |
Chr6:43604710..43604711 [GRCh38]
Chr6:43572447..43572448 [GRCh37]
Chr6:6p21.1 |
pathogenic |
| NM_006502.3(POLH):c.661-10A>G |
single nucleotide variant |
not provided [RCV005113374] |
Chr6:43600978 [GRCh38]
Chr6:43568715 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.272+14A>G |
single nucleotide variant |
not provided [RCV005073257] |
Chr6:43583155 [GRCh38]
Chr6:43550892 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.835A>G (p.Thr279Ala) |
single nucleotide variant |
not provided [RCV005126396] |
Chr6:43603962 [GRCh38]
Chr6:43571699 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
| NM_006502.3(POLH):c.1074+11C>T |
single nucleotide variant |
not provided [RCV005124378] |
Chr6:43605330 [GRCh38]
Chr6:43573067 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.225T>C (p.Leu75=) |
single nucleotide variant |
not provided [RCV005154788] |
Chr6:43583094 [GRCh38]
Chr6:43550831 [GRCh37]
Chr6:6p21.1 |
likely benign |
| NM_006502.3(POLH):c.1619A>G (p.Lys540Arg) |
single nucleotide variant |
Xeroderma pigmentosum variant type [RCV005039794] |
Chr6:43614034 [GRCh38]
Chr6:43581771 [GRCh37]
Chr6:6p21.1 |
uncertain significance |
