NM_024006.6(VKORC1):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000002290] |
Chr16:31091334 [GRCh38] Chr16:31102655 [GRCh37] Chr16:16p11.2 |
pathogenic |
NM_024006.6(VKORC1):c.85G>T (p.Val29Leu) |
single nucleotide variant |
Warfarin response [RCV000002291] |
Chr16:31094645 [GRCh38] Chr16:31105966 [GRCh37] Chr16:16p11.2 |
pathogenic |
NM_024006.6(VKORC1):c.134T>C (p.Val45Ala) |
single nucleotide variant |
Warfarin response [RCV000002292] |
Chr16:31094596 [GRCh38] Chr16:31105917 [GRCh37] Chr16:16p11.2 |
pathogenic |
NM_024006.6(VKORC1):c.172A>G (p.Arg58Gly) |
single nucleotide variant |
Warfarin response [RCV000002293] |
Chr16:31094558 [GRCh38] Chr16:31105879 [GRCh37] Chr16:16p11.2 |
pathogenic |
NM_024006.6(VKORC1):c.383T>G (p.Leu128Arg) |
single nucleotide variant |
Warfarin response [RCV000002294] |
Chr16:31091243 [GRCh38] Chr16:31102564 [GRCh37] Chr16:16p11.2 |
pathogenic|drug response |
NM_024006.4(VKORC1):c.-1639G>A |
single nucleotide variant |
See cases [RCV003993732]|Thrombus [RCV003996074]|VKORC1-related disorder [RCV003952337]|Venous thromboembolism [RCV003150805]|Warfarin response [RCV000002295]|acenocoumarol response - Dosage [RCV003227594]|not provided [RCV000377657]|not specified [RCV000603173]|phenprocoumon response - Dosage [RCV001787364]|phenprocoumon response - Toxicity [RCV001787365]|warfarin response - Dosage [RCV003227593]|warfarin response - Efficacy [RCV003227595]|warfarin response - Toxicity [RCV001787366] |
Chr16:31096368 [GRCh38] Chr16:31107689 [GRCh37] Chr16:16p11.2 |
pathogenic|benign|likely benign|drug response|protective|uncertain significance|other |
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) |
single nucleotide variant |
Thrombus [RCV002280858]|VKORC1-related disorder [RCV003944792]|Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001115529]|Warfarin response [RCV000002296]|not provided [RCV001521062]|not specified [RCV002247238]|warfarin response - Dosage [RCV003227596] |
Chr16:31094624 [GRCh38] Chr16:31105945 [GRCh37] Chr16:16p11.2 |
pathogenic|benign|likely benign|drug response|uncertain significance |
NM_024006.6(VKORC1):c.174-136C>T |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000291997]|Warfarin response [RCV000054531]|acenocoumarol response - Dosage [RCV000211275]|not provided [RCV005089325]|not specified [RCV000616307]|phenprocoumon response - Dosage [RCV001787818]|warfarin response - Dosage [RCV000211147] |
Chr16:31093557 [GRCh38] Chr16:31093557..31093558 [GRCh38] Chr16:31104878 [GRCh37] Chr16:31104878..31104879 [GRCh37] Chr16:16p11.2 |
pathogenic|benign|likely benign|drug response |
NM_024006.6(VKORC1):c.173+324T>G |
single nucleotide variant |
warfarin response - Dosage [RCV000211273] |
Chr16:31094233 [GRCh38] Chr16:31105554 [GRCh37] Chr16:16p11.2 |
drug response |
NM_024006.5(VKORC1):c.-1639G>T |
single nucleotide variant |
warfarin response - Toxicity/ADR [RCV000211327] |
Chr16:31096368 [GRCh38] Chr16:31107689 [GRCh37] Chr16:16p11.2 |
drug response |
NM_024006.6(VKORC1):c.*134G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000295118]|warfarin response - Dosage [RCV000211278] |
Chr16:31091000 [GRCh38] Chr16:31102321 [GRCh37] Chr16:16p11.2 |
benign|drug response |
NM_024006.6(VKORC1):c.173+525C>T |
single nucleotide variant |
not provided [RCV000835202] |
Chr16:31094032 [GRCh38] Chr16:31094032..31094033 [GRCh38] Chr16:31105353 [GRCh37] Chr16:31105353..31105354 [GRCh37] Chr16:16p11.2 |
benign|drug response |
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 |
copy number gain |
See cases [RCV000133811] |
Chr16:30691912..36160463 [GRCh38] Chr16:30703233..35147508 [GRCh37] Chr16:30610734..35005009 [NCBI36] Chr16:16p11.2-11.1 |
pathogenic |
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 |
copy number gain |
See cases [RCV000135339] |
Chr16:29909613..31438697 [GRCh38] Chr16:29920934..31450018 [GRCh37] Chr16:29828435..31357519 [NCBI36] Chr16:16p11.2 |
pathogenic |
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 |
copy number gain |
See cases [RCV000140341] |
Chr16:27311746..31193406 [GRCh38] Chr16:27323067..31204727 [GRCh37] Chr16:27230568..31112228 [NCBI36] Chr16:16p12.1-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 |
copy number gain |
See cases [RCV000141141] |
Chr16:23752047..31943755 [GRCh38] Chr16:23763368..31955076 [GRCh37] Chr16:23670869..31862577 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
NC_000016.10:g.31096368= |
single nucleotide variant |
Warfarin response [RCV000152659] |
Chr16:31096368 [GRCh38] Chr16:31107689 [GRCh37] Chr16:16p11.2 |
drug response |
NG_011564.1(VKORC1):g.3639dup |
duplication |
Warfarin response [RCV000054486] |
Chr16:31096316..31096317 [GRCh38] Chr16:31107637..31107638 [GRCh37] Chr16:16p11.2 |
drug response |
NM_024006.6(VKORC1):c.283+124G>C |
single nucleotide variant |
not specified [RCV000610753]|warfarin response - Dosage [RCV000211369] |
Chr16:31093188 [GRCh38] Chr16:31093188..31093189 [GRCh38] Chr16:31104509 [GRCh37] Chr16:31104509..31104510 [GRCh37] Chr16:16p11.2 |
likely benign|drug response |
NM_024006.6(VKORC1):c.283+837T>C |
single nucleotide variant |
not provided [RCV000830170]|warfarin response - Dosage [RCV000211406] |
Chr16:31092475 [GRCh38] Chr16:31103796 [GRCh37] Chr16:16p11.2 |
benign|drug response |
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207028] |
Chr16:30391304..31122666 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.36G>A (p.Arg12=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000346857] |
Chr16:31094694 [GRCh38] Chr16:31106015 [GRCh37] Chr16:16p11.2 |
benign|likely benign |
NM_024006.6(VKORC1):c.358C>T (p.Leu120=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000350087]|not provided [RCV004715955] |
Chr16:31091268 [GRCh38] Chr16:31102589 [GRCh37] Chr16:16p11.2 |
benign|likely benign |
NM_024006.5(VKORC1):c.-160G>C |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000398380] |
Chr16:31094889 [GRCh38] Chr16:31106210 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV000281566] |
Chr16:31094727 [GRCh38] Chr16:31106048 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.267A>T (p.Thr89=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000385984] |
Chr16:31093328 [GRCh38] Chr16:31104649 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.*245G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV000316731] |
Chr16:31090889 [GRCh38] Chr16:31102210 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NC_000016.10:g.31087679C>T |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000362776]|not provided [RCV004715133] |
Chr16:31087679 [GRCh38] Chr16:31099000 [GRCh37] Chr16:16p11.2 |
benign |
NM_024006.6(VKORC1):c.*145T>C |
single nucleotide variant |
Vitamin K-Dependent Clotting Factors [RCV000389417] |
Chr16:31090989 [GRCh38] Chr16:31102310 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.*10C>G |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120144] |
Chr16:31091124 [GRCh38] Chr16:31102445 [GRCh37] Chr16:16p11.2 |
uncertain significance |
Single allele |
deletion |
Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] |
Chr16:30554158..31536880 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1 |
copy number loss |
See cases [RCV000446201] |
Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 |
copy number gain |
See cases [RCV000447708] |
Chr16:30830287..31827011 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 |
copy number loss |
See cases [RCV000448084] |
Chr16:28826162..29043901 [GRCh37] Chr16:16p11.2 |
likely pathogenic |
NC_000016.10:g.31099660G>A |
single nucleotide variant |
warfarin response - Dosage [RCV000211249] |
Chr16:31099660 [GRCh38] Chr16:31099660..31099661 [GRCh38] Chr16:31110981 [GRCh37] Chr16:31110981..31110982 [GRCh37] Chr16:16p11.2 |
drug response |
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1 |
copy number loss |
See cases [RCV000511906] |
Chr16:30952806..31177641 [GRCh37] Chr16:16p11.2 |
likely pathogenic |
GRCh37/hg19 16p11.2(chr16:30607048-31117069)x1 |
copy number loss |
See cases [RCV000511454] |
Chr16:30607048..31117069 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_024006.6(VKORC1):c.283+837= |
single nucleotide variant |
not specified [RCV000616506] |
Chr16:31092475 [GRCh38] Chr16:31103796 [GRCh37] Chr16:16p11.2 |
benign |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 |
copy number gain |
not provided [RCV000739123] |
Chr16:30738551..34194635 [GRCh37] Chr16:16p11.2 |
benign |
NM_024006.6(VKORC1):c.54G>T (p.Thr18=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001115530] |
Chr16:31094676 [GRCh38] Chr16:31105997 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.-45G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001115532] |
Chr16:31094774 [GRCh38] Chr16:31106095 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.129C>T (p.Cys43=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120433]|not provided [RCV000973971] |
Chr16:31094601 [GRCh38] Chr16:31105922 [GRCh37] Chr16:16p11.2 |
benign|likely benign |
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1 |
copy number loss |
not provided [RCV000848082] |
Chr16:30851860..31156762 [GRCh37] Chr16:16p11.2 |
pathogenic |
NM_024006.6(VKORC1):c.196G>A (p.Val66Met) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120431]|Warfarin response [RCV000853288] |
Chr16:31093399 [GRCh38] Chr16:31104720 [GRCh37] Chr16:16p11.2 |
pathogenic|benign |
NM_024006.6(VKORC1):c.117C>T (p.Tyr39=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001115528]|not provided [RCV004693707] |
Chr16:31094613 [GRCh38] Chr16:31105934 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.*172T>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120143] |
Chr16:31090962 [GRCh38] Chr16:31102283 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.352G>C (p.Val118Leu) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120427] |
Chr16:31091274 [GRCh38] Chr16:31102595 [GRCh37] Chr16:16p11.2 |
likely benign |
NM_024006.6(VKORC1):c.203A>G (p.His68Arg) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120429] |
Chr16:31093392 [GRCh38] Chr16:31104713 [GRCh37] Chr16:16p11.2 |
benign |
NM_024006.6(VKORC1):c.447T>C (p.Ser149=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120145] |
Chr16:31091179 [GRCh38] Chr16:31102500 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.342C>G (p.Leu114=) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120428] |
Chr16:31091284 [GRCh38] Chr16:31102605 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.202C>T (p.His68Tyr) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120430] |
Chr16:31093393 [GRCh38] Chr16:31104714 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.*243G>A |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120142] |
Chr16:31090891 [GRCh38] Chr16:31102212 [GRCh37] Chr16:16p11.2 |
likely benign |
NM_024006.6(VKORC1):c.379G>A (p.Val127Met) |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120146] |
Chr16:31091247 [GRCh38] Chr16:31102568 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.173+11G>T |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001120432] |
Chr16:31094546 [GRCh38] Chr16:31105867 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.-2T>C |
single nucleotide variant |
Vitamin K-dependent clotting factors, combined deficiency of, type 2 [RCV001115531] |
Chr16:31094731 [GRCh38] Chr16:31106052 [GRCh37] Chr16:16p11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 |
copy number gain |
not provided [RCV001258619] |
Chr16:30350747..31905898 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.283+124G>A |
single nucleotide variant |
not provided [RCV001757700] |
Chr16:31093188 [GRCh38] Chr16:31104509 [GRCh37] Chr16:16p11.2 |
likely benign |
GRCh37/hg19 16p11.2(chr16:30943854-31171177) |
copy number loss |
not specified [RCV002052525] |
Chr16:30943854..31171177 [GRCh37] Chr16:16p11.2 |
likely pathogenic |
NM_024006.6(VKORC1):c.40G>A (p.Ala14Thr) |
single nucleotide variant |
not specified [RCV004361448] |
Chr16:31094690 [GRCh38] Chr16:31106011 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.283+460C>T |
single nucleotide variant |
VKORC1-related disorder [RCV003402489] |
Chr16:31092852 [GRCh38] Chr16:31104173 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.64C>T (p.Leu22Phe) |
single nucleotide variant |
not provided [RCV003426679] |
Chr16:31094666 [GRCh38] Chr16:31105987 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.36G>T (p.Arg12=) |
single nucleotide variant |
VKORC1-related disorder [RCV003399954] |
Chr16:31094694 [GRCh38] Chr16:31106015 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.283+448A>G |
single nucleotide variant |
VKORC1-related disorder [RCV003909254] |
Chr16:31092864 [GRCh38] Chr16:31104185 [GRCh37] Chr16:16p11.2 |
benign |
NM_024006.6(VKORC1):c.174-10C>T |
single nucleotide variant |
VKORC1-related disorder [RCV003959806] |
Chr16:31093431 [GRCh38] Chr16:31104752 [GRCh37] Chr16:16p11.2 |
likely benign |
NM_024006.6(VKORC1):c.283+458G>A |
single nucleotide variant |
VKORC1-related disorder [RCV003942221] |
Chr16:31092854 [GRCh38] Chr16:31104175 [GRCh37] Chr16:16p11.2 |
likely benign |
NM_024006.6(VKORC1):c.112G>C (p.Asp38His) |
single nucleotide variant |
not specified [RCV004482560] |
Chr16:31094618 [GRCh38] Chr16:31105939 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.14G>C (p.Trp5Ser) |
single nucleotide variant |
not specified [RCV004482561] |
Chr16:31094716 [GRCh38] Chr16:31106037 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.182G>A (p.Arg61Lys) |
single nucleotide variant |
not specified [RCV004482562] |
Chr16:31093413 [GRCh38] Chr16:31104734 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NC_000016.9:g.(?_28889993)_(31202759_?)del |
deletion |
Dilated Cardiomyopathy, Dominant [RCV004582801] |
Chr16:28889993..31202759 [GRCh37] Chr16:16p11.2 |
uncertain significance |
NM_024006.6(VKORC1):c.229A>T (p.Asn77Tyr) |
single nucleotide variant |
not provided [RCV004792304] |
Chr16:31093366 [GRCh38] Chr16:31104687 [GRCh37] Chr16:16p11.2 |
likely pathogenic |
GRCh37/hg19 16p11.2(chr16:30907349-31334236)x1 |
copy number loss |
not provided [RCV004819387] |
Chr16:30907349..31334236 [GRCh37] Chr16:16p11.2 |
pathogenic |