| NM_005630.3(SLCO2A1):c.830dup (p.Phe278fs) |
duplication |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000030778] |
Chr3:133951238..133951239 [GRCh38]
Chr3:133670082..133670083 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.97-1G>A |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000023104] |
Chr3:133979619 [GRCh38]
Chr3:133698463 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1634del (p.Asn545fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000023106] |
Chr3:133938485 [GRCh38]
Chr3:133657329 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| SLCO2A1, GLY222ARG |
variation |
Primary hypertrophic osteoarthropathy, autosomal recessive 2 [RCV000023107] |
Chr3:3q21 |
pathogenic |
| SLCO2A1, IVS7, G-A, +1 |
single nucleotide variant |
Primary hypertrophic osteoarthropathy, autosomal recessive 2 [RCV000023108] |
Chr3:3q21 |
pathogenic |
| NM_005630.3(SLCO2A1):c.861+2T>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527660]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003642961] |
Chr3:133951206 [GRCh38]
Chr3:133670050 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.764G>A (p.Gly255Glu) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000023105] |
Chr3:133951305 [GRCh38]
Chr3:133670149 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.754C>T (p.Arg252Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003642868] |
Chr3:133951315 [GRCh38]
Chr3:133670159 [GRCh37]
Chr3:3q22.1 |
pathogenic|uncertain significance |
| NM_005630.3(SLCO2A1):c.1259G>T (p.Cys420Phe) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000030780]|not provided [RCV002223177] |
Chr3:133947292 [GRCh38]
Chr3:133666136 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.253A>T (p.Ile85Phe) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000030781] |
Chr3:133973807 [GRCh38]
Chr3:133692651 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.310G>T (p.Gly104Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527661]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000030782]|not provided [RCV002513277] |
Chr3:133973750 [GRCh38]
Chr3:133692594 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| GRCh38/hg38 3q22.1-23(chr3:132690641-141064444)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051570]|See cases [RCV000051570] |
Chr3:132690641..141064444 [GRCh38]
Chr3:132409485..140783286 [GRCh37]
Chr3:133892175..142265976 [NCBI36]
Chr3:3q22.1-23 |
pathogenic |
| GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1 |
copy number loss |
See cases [RCV000051571] |
Chr3:132972567..136894498 [GRCh38]
Chr3:132691411..136613340 [GRCh37]
Chr3:134174101..138096030 [NCBI36]
Chr3:3q22.1-22.3 |
pathogenic |
| GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 |
copy number gain |
See cases [RCV000134948] |
Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29 |
pathogenic |
| GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1 |
copy number loss |
See cases [RCV000136558] |
Chr3:129817243..143381624 [GRCh38]
Chr3:129536086..143100466 [GRCh37]
Chr3:131018776..144583156 [NCBI36]
Chr3:3q22.1-24 |
pathogenic |
| GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1 |
copy number loss |
See cases [RCV000139240] |
Chr3:130401265..139005019 [GRCh38]
Chr3:130120109..138723861 [GRCh37]
Chr3:131602799..140206551 [NCBI36]
Chr3:3q22.1-23 |
pathogenic |
| GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1 |
copy number loss |
See cases [RCV000140995] |
Chr3:129817243..141425155 [GRCh38]
Chr3:129536086..141143997 [GRCh37]
Chr3:131018776..142626687 [NCBI36]
Chr3:3q22.1-23 |
pathogenic |
| GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 |
copy number gain |
See cases [RCV000142010] |
Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23 |
uncertain significance |
| GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 |
copy number gain |
See cases [RCV000142340] |
Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24 |
pathogenic |
| GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1 |
copy number loss |
See cases [RCV000143634] |
Chr3:132716978..144784743 [GRCh38]
Chr3:132435822..144503585 [GRCh37]
Chr3:133918512..145986275 [NCBI36]
Chr3:3q22.1-24 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1243T>C (p.Leu415=) |
single nucleotide variant |
not provided [RCV000958708] |
Chr3:133947308 [GRCh38]
Chr3:133666152 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1807C>T (p.Arg603Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527663]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000490280]|not provided [RCV002517444] |
Chr3:133935781 [GRCh38]
Chr3:133654625 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.940+1G>A |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000490351]|not provided [RCV001389437] |
Chr3:133948892 [GRCh38]
Chr3:133667736 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1279_1290del (p.Glu427_Pro430del) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000490458] |
Chr3:133947261..133947272 [GRCh38]
Chr3:133666105..133666116 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.664G>A (p.Gly222Arg) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527659]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV000505666]|not provided [RCV002527331] |
Chr3:133953723 [GRCh38]
Chr3:133672567 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1084G>C (p.Ala362Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003250224]|SLCO2A1-related disorder [RCV003973788] |
Chr3:133948557 [GRCh38]
Chr3:133667401 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| NM_005630.3(SLCO2A1):c.257T>C (p.Ile86Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003248081] |
Chr3:133973803 [GRCh38]
Chr3:133692647 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1 |
copy number loss |
Intellectual disability, autosomal dominant 47 [RCV000680253] |
Chr3:132642704..136360844 [GRCh37]
Chr3:3q22.1-22.3 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.397+10T>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001810071]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001810070]|not provided [RCV001595091]|not specified [RCV001530003] |
Chr3:133973653 [GRCh38]
Chr3:133692497 [GRCh37]
Chr3:3q22.1 |
benign |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| Single allele |
deletion |
Deafness-lymphedema-leukemia syndrome [RCV001541925] |
Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3 |
pathogenic |
| NM_005630.3(SLCO2A1):c.309C>T (p.Ile103=) |
single nucleotide variant |
not provided [RCV000940544] |
Chr3:133973751 [GRCh38]
Chr3:133692595 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1626-295A>G |
single nucleotide variant |
not provided [RCV001708540] |
Chr3:133938788 [GRCh38]
Chr3:133657632 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.270C>G (p.Tyr90Ter) |
single nucleotide variant |
not provided [RCV000760766] |
Chr3:133973790 [GRCh38]
Chr3:133692634 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1186G>A (p.Ala396Thr) |
single nucleotide variant |
not provided [RCV001645187] |
Chr3:133947365 [GRCh38]
Chr3:133666209 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.495G>T (p.Glu165Asp) |
single nucleotide variant |
not provided [RCV000905080] |
Chr3:133955096 [GRCh38]
Chr3:133673940 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.618G>T (p.Leu206=) |
single nucleotide variant |
not provided [RCV000900714] |
Chr3:133954973 [GRCh38]
Chr3:133673817 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.855A>C (p.Gly285=) |
single nucleotide variant |
not provided [RCV000919949] |
Chr3:133951214 [GRCh38]
Chr3:133670058 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1691-5T>C |
single nucleotide variant |
not provided [RCV000892337] |
Chr3:133935902 [GRCh38]
Chr3:133654746 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.77C>T (p.Ser26Leu) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003910626]|not provided [RCV000892765] |
Chr3:134029726 [GRCh38]
Chr3:133748570 [GRCh37]
Chr3:3q22.2 |
benign|likely benign |
| NM_005630.3(SLCO2A1):c.1291C>A (p.Pro431Thr) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003955851]|not provided [RCV000882598] |
Chr3:133947260 [GRCh38]
Chr3:133666104 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1370C>T (p.Pro457Leu) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003316898] |
Chr3:133945186 [GRCh38]
Chr3:133664030 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.862-6C>T |
single nucleotide variant |
not provided [RCV000961476] |
Chr3:133948977 [GRCh38]
Chr3:133667821 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1755G>A (p.Ser585=) |
single nucleotide variant |
not provided [RCV000970825] |
Chr3:133935833 [GRCh38]
Chr3:133654677 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.657G>A (p.Pro219=) |
single nucleotide variant |
not provided [RCV000981812] |
Chr3:133953730 [GRCh38]
Chr3:133672574 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1020C>T (p.Ser340=) |
single nucleotide variant |
not provided [RCV000902786] |
Chr3:133948621 [GRCh38]
Chr3:133667465 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1288C>T (p.Pro430Ser) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003960553]|not provided [RCV000943095] |
Chr3:133947263 [GRCh38]
Chr3:133666107 [GRCh37]
Chr3:3q22.1 |
benign|likely benign |
| NM_005630.3(SLCO2A1):c.1657A>G (p.Ile553Val) |
single nucleotide variant |
not provided [RCV000908797] |
Chr3:133938462 [GRCh38]
Chr3:133657306 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1166G>A (p.Arg389His) |
single nucleotide variant |
not provided [RCV000903272] |
Chr3:133947385 [GRCh38]
Chr3:133666229 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.736T>C (p.Leu246=) |
single nucleotide variant |
not provided [RCV000940375] |
Chr3:133951333 [GRCh38]
Chr3:133670177 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1923C>T (p.Gly641=) |
single nucleotide variant |
not provided [RCV000962056] |
Chr3:133934722 [GRCh38]
Chr3:133653566 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1812C>T (p.Asp604=) |
single nucleotide variant |
not provided [RCV000919234] |
Chr3:133935776 [GRCh38]
Chr3:133654620 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.81C>G (p.Val27=) |
single nucleotide variant |
not provided [RCV000922205] |
Chr3:134029722 [GRCh38]
Chr3:133748566 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.1440C>T (p.Ser480=) |
single nucleotide variant |
not provided [RCV000976618] |
Chr3:133945116 [GRCh38]
Chr3:133663960 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.86del (p.Gly29fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001029816] |
Chr3:134029717 [GRCh38]
Chr3:133748561 [GRCh37]
Chr3:3q22.2 |
likely pathogenic |
| GRCh37/hg19 3q22.1(chr3:133588698-133662948)x3 |
copy number gain |
not provided [RCV000846541] |
Chr3:133588698..133662948 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.290G>A (p.Arg97His) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001198034] |
Chr3:133973770 [GRCh38]
Chr3:133692614 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.1691-105C>T |
single nucleotide variant |
not provided [RCV001533789] |
Chr3:133936002 [GRCh38]
Chr3:133654846 [GRCh37]
Chr3:3q22.1 |
benign |
| NC_000003.12:g.134030188C>G |
single nucleotide variant |
not provided [RCV001639879] |
Chr3:134030188 [GRCh38]
Chr3:133749032 [GRCh37]
Chr3:3q22.2 |
benign |
| NM_005630.3(SLCO2A1):c.235-74G>A |
single nucleotide variant |
not provided [RCV001669916] |
Chr3:133973899 [GRCh38]
Chr3:133692743 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1461+258T>C |
single nucleotide variant |
not provided [RCV001682610] |
Chr3:133944837 [GRCh38]
Chr3:133663681 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1625+97C>A |
single nucleotide variant |
not provided [RCV001724696] |
Chr3:133942508 [GRCh38]
Chr3:133661352 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.234+45G>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001810288]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001810287]|not provided [RCV001714936] |
Chr3:133979436 [GRCh38]
Chr3:133698280 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1333C>T (p.Arg445Cys) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001029821]|SLCO2A1-related disorder [RCV003903257]|not provided [RCV000954250] |
Chr3:133945223 [GRCh38]
Chr3:133664067 [GRCh37]
Chr3:3q22.1 |
benign|likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.174C>T (p.Thr58=) |
single nucleotide variant |
not provided [RCV000885306] |
Chr3:133979541 [GRCh38]
Chr3:133698385 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.573G>A (p.Gly191=) |
single nucleotide variant |
not provided [RCV000918832] |
Chr3:133955018 [GRCh38]
Chr3:133673862 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.672G>A (p.Leu224=) |
single nucleotide variant |
not provided [RCV000883774] |
Chr3:133953715 [GRCh38]
Chr3:133672559 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1581G>C (p.Leu527=) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003932931]|not provided [RCV000908104] |
Chr3:133942649 [GRCh38]
Chr3:133661493 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1797C>T (p.Asn599=) |
single nucleotide variant |
not provided [RCV000908695] |
Chr3:133935791 [GRCh38]
Chr3:133654635 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1905C>T (p.Asn635=) |
single nucleotide variant |
not provided [RCV000917398] |
Chr3:133934740 [GRCh38]
Chr3:133653584 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.484C>G (p.Pro162Ala) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001335307]|not provided [RCV000902042] |
Chr3:133955107 [GRCh38]
Chr3:133673951 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.1385A>G (p.Asn462Ser) |
single nucleotide variant |
not provided [RCV000962985] |
Chr3:133945171 [GRCh38]
Chr3:133664015 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.682G>A (p.Val228Ile) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003923100]|not provided [RCV000907656] |
Chr3:133953705 [GRCh38]
Chr3:133672549 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.367G>A (p.Glu123Lys) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003923197]|not provided [RCV000913911] |
Chr3:133973693 [GRCh38]
Chr3:133692537 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1691-260C>T |
single nucleotide variant |
not provided [RCV001596539] |
Chr3:133936157 [GRCh38]
Chr3:133655001 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.234+1G>A |
single nucleotide variant |
not provided [RCV001561613] |
Chr3:133979480 [GRCh38]
Chr3:133698324 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 |
copy number gain |
not provided [RCV002472621] |
Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1461+105AC[6] |
microsatellite |
not provided [RCV001650177] |
Chr3:133944980..133944981 [GRCh38]
Chr3:133663824..133663825 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1237_1246del (p.Val413fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001533517] |
Chr3:133947305..133947314 [GRCh38]
Chr3:133666149..133666158 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.397+314A>C |
single nucleotide variant |
not provided [RCV001667269] |
Chr3:133973349 [GRCh38]
Chr3:133692193 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.840A>G (p.Arg280=) |
single nucleotide variant |
not provided [RCV001652196] |
Chr3:133951229 [GRCh38]
Chr3:133670073 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.725-203T>G |
single nucleotide variant |
not provided [RCV001649865] |
Chr3:133951547 [GRCh38]
Chr3:133670391 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.96+218GT[10] |
microsatellite |
not provided [RCV001651843] |
Chr3:134029473..134029474 [GRCh38]
Chr3:133748317..133748318 [GRCh37]
Chr3:3q22.2 |
benign |
| NM_005630.3(SLCO2A1):c.940+91G>A |
single nucleotide variant |
not provided [RCV001714044] |
Chr3:133948802 [GRCh38]
Chr3:133667646 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1106-1G>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001029822] |
Chr3:133947446 [GRCh38]
Chr3:133666290 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.1524del (p.Val509fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001255883] |
Chr3:133942706 [GRCh38]
Chr3:133661550 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.547G>A (p.Gly183Arg) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001255886]|not provided [RCV001879945] |
Chr3:133955044 [GRCh38]
Chr3:133673888 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.830del (p.Phe277fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001255885] |
Chr3:133951239 [GRCh38]
Chr3:133670083 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.725-37A>G |
single nucleotide variant |
not provided [RCV001641986] |
Chr3:133951381 [GRCh38]
Chr3:133670225 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.398-5T>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001255884] |
Chr3:133955198 [GRCh38]
Chr3:133674042 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1931G>C (p.Ter644Ser) |
single nucleotide variant |
not provided [RCV001957827] |
Chr3:133934714 [GRCh38]
Chr3:133653558 [GRCh37]
Chr3:3q22.1 |
pathogenic|uncertain significance |
| NM_005630.3(SLCO2A1):c.621C>A (p.Tyr207Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001527664] |
Chr3:133954970 [GRCh38]
Chr3:133673814 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1660G>A (p.Gly554Arg) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527665]|Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001527666]|not provided [RCV003558833] |
Chr3:133938459 [GRCh38]
Chr3:133657303 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.1814+1G>A |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001527667] |
Chr3:133935773 [GRCh38]
Chr3:133654617 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.614C>T (p.Pro205Leu) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001533515] |
Chr3:133954977 [GRCh38]
Chr3:133673821 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.529C>T (p.Gln177Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV001533516] |
Chr3:133955062 [GRCh38]
Chr3:133673906 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.302T>G (p.Ile101Ser) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal dominant [RCV001527662] |
Chr3:133973758 [GRCh38]
Chr3:133692602 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NC_000003.12:g.134030326T>G |
single nucleotide variant |
not provided [RCV001652110] |
Chr3:134030326 [GRCh38]
Chr3:133749170 [GRCh37]
Chr3:3q22.2 |
benign |
| NM_005630.3(SLCO2A1):c.1106-214G>A |
single nucleotide variant |
not provided [RCV001655129] |
Chr3:133947659 [GRCh38]
Chr3:133666503 [GRCh37]
Chr3:3q22.1 |
benign |
| NC_000003.12:g.134029945T>C |
single nucleotide variant |
not provided [RCV001708915] |
Chr3:134029945 [GRCh38]
Chr3:133748789 [GRCh37]
Chr3:3q22.2 |
benign |
| NM_005630.3(SLCO2A1):c.834C>T (p.Phe278=) |
single nucleotide variant |
not provided [RCV003108733] |
Chr3:133951235 [GRCh38]
Chr3:133670079 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1370C>G (p.Pro457Arg) |
single nucleotide variant |
not provided [RCV001755458] |
Chr3:133945186 [GRCh38]
Chr3:133664030 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1625G>A (p.Arg542His) |
single nucleotide variant |
not provided [RCV001757464] |
Chr3:133942605 [GRCh38]
Chr3:133661449 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.744G>A (p.Pro248=) |
single nucleotide variant |
SLCO2A1-related disorder [RCV004731218]|not provided [RCV001964269] |
Chr3:133951325 [GRCh38]
Chr3:133670169 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.1279G>A (p.Glu427Lys) |
single nucleotide variant |
not provided [RCV001970772] |
Chr3:133947272 [GRCh38]
Chr3:133666116 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1516T>A (p.Ser506Thr) |
single nucleotide variant |
not provided [RCV001929602] |
Chr3:133942714 [GRCh38]
Chr3:133661558 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.640A>T (p.Ile214Phe) |
single nucleotide variant |
not provided [RCV002025283] |
Chr3:133953747 [GRCh38]
Chr3:133672591 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.74G>T (p.Arg25Leu) |
single nucleotide variant |
not provided [RCV002022257] |
Chr3:134029729 [GRCh38]
Chr3:133748573 [GRCh37]
Chr3:3q22.2 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1291C>G (p.Pro431Ala) |
single nucleotide variant |
not provided [RCV001988014] |
Chr3:133947260 [GRCh38]
Chr3:133666104 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.398-9T>G |
single nucleotide variant |
not provided [RCV002008505] |
Chr3:133955202 [GRCh38]
Chr3:133674046 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.332G>A (p.Gly111Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004044054]|not provided [RCV001914142] |
Chr3:133973728 [GRCh38]
Chr3:133692572 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1755G>T (p.Ser585=) |
single nucleotide variant |
not provided [RCV001983116] |
Chr3:133935833 [GRCh38]
Chr3:133654677 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.234G>A (p.Glu78=) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV002052131] |
Chr3:133979481 [GRCh38]
Chr3:133698325 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1154T>C (p.Ile385Thr) |
single nucleotide variant |
not provided [RCV001968412] |
Chr3:133947397 [GRCh38]
Chr3:133666241 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1783G>A (p.Ala595Thr) |
single nucleotide variant |
not provided [RCV001946204] |
Chr3:133935805 [GRCh38]
Chr3:133654649 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1166G>T (p.Arg389Leu) |
single nucleotide variant |
not provided [RCV002024037] |
Chr3:133947385 [GRCh38]
Chr3:133666229 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1798G>A (p.Asp600Asn) |
single nucleotide variant |
not provided [RCV001928837] |
Chr3:133935790 [GRCh38]
Chr3:133654634 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1196G>A (p.Arg399His) |
single nucleotide variant |
not provided [RCV001946082] |
Chr3:133947355 [GRCh38]
Chr3:133666199 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.133C>T (p.Gln45Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV002052072] |
Chr3:133979582 [GRCh38]
Chr3:133698426 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.310G>A (p.Gly104Arg) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003642981]|not provided [RCV002042148] |
Chr3:133973750 [GRCh38]
Chr3:133692594 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005630.3(SLCO2A1):c.295C>T (p.Arg99Cys) |
single nucleotide variant |
not provided [RCV001909705] |
Chr3:133973765 [GRCh38]
Chr3:133692609 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.572G>C (p.Gly191Ala) |
single nucleotide variant |
not provided [RCV001996774] |
Chr3:133955019 [GRCh38]
Chr3:133673863 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1115A>G (p.Asn372Ser) |
single nucleotide variant |
not provided [RCV001888044] |
Chr3:133947436 [GRCh38]
Chr3:133666280 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1837T>C (p.Tyr613His) |
single nucleotide variant |
not provided [RCV001992509] |
Chr3:133934808 [GRCh38]
Chr3:133653652 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.185G>A (p.Arg62His) |
single nucleotide variant |
not provided [RCV002028599] |
Chr3:133979530 [GRCh38]
Chr3:133698374 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.209C>T (p.Ser70Leu) |
single nucleotide variant |
not provided [RCV002029896] |
Chr3:133979506 [GRCh38]
Chr3:133698350 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1844C>T (p.Ala615Val) |
single nucleotide variant |
not provided [RCV001887500] |
Chr3:133934801 [GRCh38]
Chr3:133653645 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1690+6T>C |
single nucleotide variant |
not provided [RCV001897426] |
Chr3:133938423 [GRCh38]
Chr3:133657267 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1815-2A>T |
single nucleotide variant |
not provided [RCV002000667] |
Chr3:133934832 [GRCh38]
Chr3:133653676 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1691-10C>A |
single nucleotide variant |
not provided [RCV001989847] |
Chr3:133935907 [GRCh38]
Chr3:133654751 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.1264_1265del (p.Thr422fs) |
deletion |
not provided [RCV001937176] |
Chr3:133947286..133947287 [GRCh38]
Chr3:133666130..133666131 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1165C>T (p.Arg389Cys) |
single nucleotide variant |
not provided [RCV001952216] |
Chr3:133947386 [GRCh38]
Chr3:133666230 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.409C>T (p.Arg137Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004043557]|not provided [RCV001936024] |
Chr3:133955182 [GRCh38]
Chr3:133674026 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.941-10C>A |
single nucleotide variant |
not provided [RCV001996101] |
Chr3:133948710 [GRCh38]
Chr3:133667554 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1808G>C (p.Arg603Pro) |
single nucleotide variant |
not provided [RCV001930956] |
Chr3:133935780 [GRCh38]
Chr3:133654624 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1718G>T (p.Gly573Val) |
single nucleotide variant |
not provided [RCV001995724] |
Chr3:133935870 [GRCh38]
Chr3:133654714 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.940C>T (p.Arg314Trp) |
single nucleotide variant |
not provided [RCV001905342] |
Chr3:133948893 [GRCh38]
Chr3:133667737 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1624C>T (p.Arg542Cys) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003642982]|not provided [RCV001973193] |
Chr3:133942606 [GRCh38]
Chr3:133661450 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.750C>A (p.Asp250Glu) |
single nucleotide variant |
not provided [RCV001959389] |
Chr3:133951319 [GRCh38]
Chr3:133670163 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.281G>A (p.Arg94Gln) |
single nucleotide variant |
not provided [RCV002047892] |
Chr3:133973779 [GRCh38]
Chr3:133692623 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.904G>C (p.Ala302Pro) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV004720353]|not provided [RCV002030634] |
Chr3:133948929 [GRCh38]
Chr3:133667773 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.1106G>A (p.Gly369Asp) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003642983]|not provided [RCV001998798] |
Chr3:133947445 [GRCh38]
Chr3:133666289 [GRCh37]
Chr3:3q22.1 |
pathogenic|likely pathogenic |
| NM_005630.3(SLCO2A1):c.1742T>G (p.Ile581Ser) |
single nucleotide variant |
not provided [RCV001955397] |
Chr3:133935846 [GRCh38]
Chr3:133654690 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.402C>A (p.Asn134Lys) |
single nucleotide variant |
not provided [RCV001870477] |
Chr3:133955189 [GRCh38]
Chr3:133674033 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1316C>T (p.Pro439Leu) |
single nucleotide variant |
not provided [RCV002027240] |
Chr3:133945240 [GRCh38]
Chr3:133664084 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1625+6T>C |
single nucleotide variant |
not provided [RCV001937572] |
Chr3:133942599 [GRCh38]
Chr3:133661443 [GRCh37]
Chr3:3q22.1 |
likely pathogenic|uncertain significance |
| NM_005630.3(SLCO2A1):c.619T>C (p.Tyr207His) |
single nucleotide variant |
Inborn genetic diseases [RCV004671565]|not provided [RCV001993083] |
Chr3:133954972 [GRCh38]
Chr3:133673816 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1462-9C>T |
single nucleotide variant |
not provided [RCV002186131] |
Chr3:133942777 [GRCh38]
Chr3:133661621 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.12G>A (p.Leu4=) |
single nucleotide variant |
not provided [RCV002071804] |
Chr3:134029791 [GRCh38]
Chr3:133748635 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.1815-111A>G |
single nucleotide variant |
not provided [RCV002223634] |
Chr3:133934941 [GRCh38]
Chr3:133653785 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.847C>T (p.Pro283Ser) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003903349]|not provided [RCV002107719] |
Chr3:133951222 [GRCh38]
Chr3:133670066 [GRCh37]
Chr3:3q22.1 |
benign|likely benign |
| NM_005630.3(SLCO2A1):c.1434C>A (p.Asn478Lys) |
single nucleotide variant |
not provided [RCV002089612] |
Chr3:133945122 [GRCh38]
Chr3:133663966 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1041C>G (p.Thr347=) |
single nucleotide variant |
not provided [RCV002092307] |
Chr3:133948600 [GRCh38]
Chr3:133667444 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.366C>T (p.Ser122=) |
single nucleotide variant |
not provided [RCV002085446] |
Chr3:133973694 [GRCh38]
Chr3:133692538 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1551G>A (p.Pro517=) |
single nucleotide variant |
not provided [RCV002166319] |
Chr3:133942679 [GRCh38]
Chr3:133661523 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1782C>T (p.Cys594=) |
single nucleotide variant |
not provided [RCV002151286] |
Chr3:133935806 [GRCh38]
Chr3:133654650 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1815-14C>T |
single nucleotide variant |
not provided [RCV002169154] |
Chr3:133934844 [GRCh38]
Chr3:133653688 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.744G>C (p.Pro248=) |
single nucleotide variant |
not provided [RCV002080984] |
Chr3:133951325 [GRCh38]
Chr3:133670169 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.798T>G (p.Ala266=) |
single nucleotide variant |
not provided [RCV002091682] |
Chr3:133951271 [GRCh38]
Chr3:133670115 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1371G>C (p.Pro457=) |
single nucleotide variant |
not provided [RCV002115411] |
Chr3:133945185 [GRCh38]
Chr3:133664029 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.97-7C>T |
single nucleotide variant |
not provided [RCV002151681] |
Chr3:133979625 [GRCh38]
Chr3:133698469 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1815-11C>T |
single nucleotide variant |
not provided [RCV002205744] |
Chr3:133934841 [GRCh38]
Chr3:133653685 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.398-7G>A |
single nucleotide variant |
not provided [RCV002078125] |
Chr3:133955200 [GRCh38]
Chr3:133674044 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.978A>G (p.Ser326=) |
single nucleotide variant |
not provided [RCV002149016] |
Chr3:133948663 [GRCh38]
Chr3:133667507 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.235-18C>T |
single nucleotide variant |
not provided [RCV002150773] |
Chr3:133973843 [GRCh38]
Chr3:133692687 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1299A>G (p.Thr433=) |
single nucleotide variant |
not provided [RCV002078486] |
Chr3:133945257 [GRCh38]
Chr3:133664101 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.625+8A>G |
single nucleotide variant |
not provided [RCV002170991] |
Chr3:133954958 [GRCh38]
Chr3:133673802 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.12G>T (p.Leu4=) |
single nucleotide variant |
not provided [RCV002185723] |
Chr3:134029791 [GRCh38]
Chr3:133748635 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.862-16C>A |
single nucleotide variant |
not provided [RCV002128624] |
Chr3:133948987 [GRCh38]
Chr3:133667831 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.724+7A>G |
single nucleotide variant |
not provided [RCV002139291] |
Chr3:133953656 [GRCh38]
Chr3:133672500 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1814+11A>T |
single nucleotide variant |
not provided [RCV002219913] |
Chr3:133935763 [GRCh38]
Chr3:133654607 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1498G>A (p.Ala500Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004671642]|not provided [RCV002083477] |
Chr3:133942732 [GRCh38]
Chr3:133661576 [GRCh37]
Chr3:3q22.1 |
likely benign|uncertain significance |
| NM_005630.3(SLCO2A1):c.663C>T (p.Phe221=) |
single nucleotide variant |
not provided [RCV002143023] |
Chr3:133953724 [GRCh38]
Chr3:133672568 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1625+17T>C |
single nucleotide variant |
not provided [RCV002199538] |
Chr3:133942588 [GRCh38]
Chr3:133661432 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1672T>C (p.Leu558=) |
single nucleotide variant |
not provided [RCV002177733] |
Chr3:133938447 [GRCh38]
Chr3:133657291 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1814+7G>A |
single nucleotide variant |
not provided [RCV002217126] |
Chr3:133935767 [GRCh38]
Chr3:133654611 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1296-16C>T |
single nucleotide variant |
not provided [RCV002098920] |
Chr3:133945276 [GRCh38]
Chr3:133664120 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.398-17A>G |
single nucleotide variant |
not provided [RCV002158881] |
Chr3:133955210 [GRCh38]
Chr3:133674054 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.210G>A (p.Ser70=) |
single nucleotide variant |
not provided [RCV002217650] |
Chr3:133979505 [GRCh38]
Chr3:133698349 [GRCh37]
Chr3:3q22.1 |
benign |
| NC_000003.11:g.(?_133661429)_(133698482_?)dup |
duplication |
not provided [RCV003116405] |
Chr3:133661429..133698482 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NC_000003.11:g.(?_133653557)_(133674057_?)dup |
duplication |
not provided [RCV003116406] |
Chr3:133653557..133674057 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1509G>T (p.Lys503Asn) |
single nucleotide variant |
not provided [RCV003112480] |
Chr3:133942721 [GRCh38]
Chr3:133661565 [GRCh37]
Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005630.3(SLCO2A1):c.1282G>T (p.Val428Phe) |
single nucleotide variant |
not provided [RCV003118538] |
Chr3:133947269 [GRCh38]
Chr3:133666113 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1371G>A (p.Pro457=) |
single nucleotide variant |
not provided [RCV003120010] |
Chr3:133945185 [GRCh38]
Chr3:133664029 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1381G>C (p.Asp461His) |
single nucleotide variant |
Inborn genetic diseases [RCV004683903] |
Chr3:133945175 [GRCh38]
Chr3:133664019 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.389C>T (p.Ala130Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004683904] |
Chr3:133973671 [GRCh38]
Chr3:133692515 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1162A>G (p.Lys388Glu) |
single nucleotide variant |
not provided [RCV002303813] |
Chr3:133947389 [GRCh38]
Chr3:133666233 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1873A>T (p.Ser625Cys) |
single nucleotide variant |
not provided [RCV002299887] |
Chr3:133934772 [GRCh38]
Chr3:133653616 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1382A>G (p.Asp461Gly) |
single nucleotide variant |
not provided [RCV002296026] |
Chr3:133945174 [GRCh38]
Chr3:133664018 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1745G>A (p.Arg582Gln) |
single nucleotide variant |
not provided [RCV002903382] |
Chr3:133935843 [GRCh38]
Chr3:133654687 [GRCh37]
Chr3:3q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005630.3(SLCO2A1):c.1768del (p.Arg590fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003776900]|not provided [RCV002774969] |
Chr3:133935820 [GRCh38]
Chr3:133654664 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.651T>C (p.Phe217=) |
single nucleotide variant |
not provided [RCV002615470] |
Chr3:133953736 [GRCh38]
Chr3:133672580 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.398-14C>T |
single nucleotide variant |
not provided [RCV002681555] |
Chr3:133955207 [GRCh38]
Chr3:133674051 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.964C>T (p.Leu322Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002865202] |
Chr3:133948677 [GRCh38]
Chr3:133667521 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1476C>T (p.Cys492=) |
single nucleotide variant |
not provided [RCV002838364] |
Chr3:133942754 [GRCh38]
Chr3:133661598 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1205C>T (p.Thr402Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002732396] |
Chr3:133947346 [GRCh38]
Chr3:133666190 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.56G>C (p.Arg19Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002689690] |
Chr3:134029747 [GRCh38]
Chr3:133748591 [GRCh37]
Chr3:3q22.2 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.878C>T (p.Ala293Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002777560] |
Chr3:133948955 [GRCh38]
Chr3:133667799 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.356A>G (p.His119Arg) |
single nucleotide variant |
not provided [RCV002780942] |
Chr3:133973704 [GRCh38]
Chr3:133692548 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1615A>G (p.Met539Val) |
single nucleotide variant |
not provided [RCV002948842] |
Chr3:133942615 [GRCh38]
Chr3:133661459 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.63C>T (p.Gly21=) |
single nucleotide variant |
not provided [RCV002570008] |
Chr3:134029740 [GRCh38]
Chr3:133748584 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.1345T>C (p.Ser449Pro) |
single nucleotide variant |
not provided [RCV003053715] |
Chr3:133945211 [GRCh38]
Chr3:133664055 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1728T>A (p.Ile576=) |
single nucleotide variant |
not provided [RCV002824727] |
Chr3:133935860 [GRCh38]
Chr3:133654704 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1626-17C>G |
single nucleotide variant |
not provided [RCV002570902] |
Chr3:133938510 [GRCh38]
Chr3:133657354 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1845G>A (p.Ala615=) |
single nucleotide variant |
not provided [RCV002592338] |
Chr3:133934800 [GRCh38]
Chr3:133653644 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1799A>T (p.Asp600Val) |
single nucleotide variant |
not provided [RCV002694893] |
Chr3:133935789 [GRCh38]
Chr3:133654633 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.941-14C>T |
single nucleotide variant |
not provided [RCV002569728] |
Chr3:133948714 [GRCh38]
Chr3:133667558 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1550C>T (p.Pro517Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002980607]|not provided [RCV003108206] |
Chr3:133942680 [GRCh38]
Chr3:133661524 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.817T>C (p.Phe273Leu) |
single nucleotide variant |
not provided [RCV002619512] |
Chr3:133951252 [GRCh38]
Chr3:133670096 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.517A>C (p.Met173Leu) |
single nucleotide variant |
not provided [RCV002706701] |
Chr3:133955074 [GRCh38]
Chr3:133673918 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.456C>T (p.Pro152=) |
single nucleotide variant |
not provided [RCV003042621] |
Chr3:133955135 [GRCh38]
Chr3:133673979 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1851C>G (p.Gly617=) |
single nucleotide variant |
not provided [RCV003056420] |
Chr3:133934794 [GRCh38]
Chr3:133653638 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.184C>T (p.Arg62Cys) |
single nucleotide variant |
not provided [RCV002595455] |
Chr3:133979531 [GRCh38]
Chr3:133698375 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.23G>A (p.Gly8Asp) |
single nucleotide variant |
not provided [RCV002957369] |
Chr3:134029780 [GRCh38]
Chr3:133748624 [GRCh37]
Chr3:3q22.2 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1537C>G (p.His513Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003269217]|not provided [RCV002625991] |
Chr3:133942693 [GRCh38]
Chr3:133661537 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.602C>T (p.Pro201Leu) |
single nucleotide variant |
not provided [RCV002593639] |
Chr3:133954989 [GRCh38]
Chr3:133673833 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.398-8C>T |
single nucleotide variant |
not provided [RCV002573747] |
Chr3:133955201 [GRCh38]
Chr3:133674045 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1417G>A (p.Gly473Ser) |
single nucleotide variant |
not provided [RCV002573789] |
Chr3:133945139 [GRCh38]
Chr3:133663983 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1489G>A (p.Gly497Arg) |
single nucleotide variant |
not provided [RCV002593564] |
Chr3:133942741 [GRCh38]
Chr3:133661585 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.570T>G (p.Phe190Leu) |
single nucleotide variant |
not provided [RCV002982788] |
Chr3:133955021 [GRCh38]
Chr3:133673865 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1373T>C (p.Val458Ala) |
single nucleotide variant |
not provided [RCV002928462] |
Chr3:133945183 [GRCh38]
Chr3:133664027 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.96+7G>T |
single nucleotide variant |
not provided [RCV002894465] |
Chr3:134029700 [GRCh38]
Chr3:133748544 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.1573G>A (p.Val525Met) |
single nucleotide variant |
not provided [RCV002623513] |
Chr3:133942657 [GRCh38]
Chr3:133661501 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1021G>A (p.Val341Ile) |
single nucleotide variant |
not provided [RCV003085418] |
Chr3:133948620 [GRCh38]
Chr3:133667464 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.941-13G>A |
single nucleotide variant |
not provided [RCV002786627] |
Chr3:133948713 [GRCh38]
Chr3:133667557 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.823T>A (p.Phe275Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003250526]|not provided [RCV002596792] |
Chr3:133951246 [GRCh38]
Chr3:133670090 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.943T>C (p.Phe315Leu) |
single nucleotide variant |
not provided [RCV002811348] |
Chr3:133948698 [GRCh38]
Chr3:133667542 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.896T>C (p.Leu299Ser) |
single nucleotide variant |
not provided [RCV003049035] |
Chr3:133948937 [GRCh38]
Chr3:133667781 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1488C>T (p.Thr496=) |
single nucleotide variant |
not provided [RCV002602900] |
Chr3:133942742 [GRCh38]
Chr3:133661586 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1291C>T (p.Pro431Ser) |
single nucleotide variant |
not provided [RCV003091603] |
Chr3:133947260 [GRCh38]
Chr3:133666104 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.626-15T>A |
single nucleotide variant |
not provided [RCV002580566] |
Chr3:133953776 [GRCh38]
Chr3:133672620 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.379T>C (p.Tyr127His) |
single nucleotide variant |
Inborn genetic diseases [RCV002668491] |
Chr3:133973681 [GRCh38]
Chr3:133692525 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.473C>A (p.Thr158Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002855120] |
Chr3:133955118 [GRCh38]
Chr3:133673962 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1542C>T (p.Phe514=) |
single nucleotide variant |
not provided [RCV002746390] |
Chr3:133942688 [GRCh38]
Chr3:133661532 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.538G>T (p.Ala180Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002920780] |
Chr3:133955053 [GRCh38]
Chr3:133673897 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1771C>T (p.Arg591Ter) |
single nucleotide variant |
not provided [RCV002651747] |
Chr3:133935817 [GRCh38]
Chr3:133654661 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.743C>T (p.Pro248Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003308376]|not provided [RCV002961932] |
Chr3:133951326 [GRCh38]
Chr3:133670170 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.842C>T (p.Ala281Val) |
single nucleotide variant |
not provided [RCV002631921] |
Chr3:133951227 [GRCh38]
Chr3:133670071 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.226T>C (p.Leu76=) |
single nucleotide variant |
not provided [RCV003091459] |
Chr3:133979489 [GRCh38]
Chr3:133698333 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1815-17CCT[2] |
microsatellite |
not provided [RCV002676056] |
Chr3:133934839..133934841 [GRCh38]
Chr3:133653683..133653685 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.234+19T>C |
single nucleotide variant |
not provided [RCV002899527] |
Chr3:133979462 [GRCh38]
Chr3:133698306 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.97-3C>T |
single nucleotide variant |
not provided [RCV002942720] |
Chr3:133979621 [GRCh38]
Chr3:133698465 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.159G>A (p.Lys53=) |
single nucleotide variant |
not provided [RCV002726152] |
Chr3:133979556 [GRCh38]
Chr3:133698400 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.392G>A (p.Ser131Asn) |
single nucleotide variant |
not provided [RCV002609856] |
Chr3:133973668 [GRCh38]
Chr3:133692512 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1815-15T>G |
single nucleotide variant |
not provided [RCV002589105] |
Chr3:133934845 [GRCh38]
Chr3:133653689 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.626-17C>T |
single nucleotide variant |
not provided [RCV003852667] |
Chr3:133953778 [GRCh38]
Chr3:133672622 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.289C>T (p.Arg97Cys) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003229536] |
Chr3:133973771 [GRCh38]
Chr3:133692615 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.234+5G>A |
single nucleotide variant |
not provided [RCV003136860] |
Chr3:133979476 [GRCh38]
Chr3:133698320 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1772G>A (p.Arg591Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003176074] |
Chr3:133935816 [GRCh38]
Chr3:133654660 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.659C>T (p.Ala220Val) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003447863] |
Chr3:133953728 [GRCh38]
Chr3:133672572 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.83_96+8del |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003389097] |
Chr3:134029699..134029720 [GRCh38]
Chr3:133748543..133748564 [GRCh37]
Chr3:3q22.2 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.663del (p.Phe221fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003447855] |
Chr3:133953724 [GRCh38]
Chr3:133672568 [GRCh37]
Chr3:3q22.1 |
likely pathogenic |
| NM_005630.3(SLCO2A1):c.1295+20G>C |
single nucleotide variant |
not provided [RCV003579292] |
Chr3:133947236 [GRCh38]
Chr3:133666080 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.421G>T (p.Glu141Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643500] |
Chr3:133955170 [GRCh38]
Chr3:133674014 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1668G>C (p.Gln556His) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643507] |
Chr3:133938451 [GRCh38]
Chr3:133657295 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.763G>A (p.Gly255Arg) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643508] |
Chr3:133951306 [GRCh38]
Chr3:133670150 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1372G>T (p.Val458Phe) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643511] |
Chr3:133945184 [GRCh38]
Chr3:133664028 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.625+11G>A |
single nucleotide variant |
not provided [RCV003880164] |
Chr3:133954955 [GRCh38]
Chr3:133673799 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.234+8G>A |
single nucleotide variant |
not provided [RCV003578615] |
Chr3:133979473 [GRCh38]
Chr3:133698317 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1296-20G>A |
single nucleotide variant |
not provided [RCV003849105] |
Chr3:133945280 [GRCh38]
Chr3:133664124 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.626-5del |
deletion |
not provided [RCV003694348] |
Chr3:133953766 [GRCh38]
Chr3:133672610 [GRCh37]
Chr3:3q22.1 |
benign |
| NM_005630.3(SLCO2A1):c.1497dup (p.Ala500fs) |
duplication |
not provided [RCV003545150] |
Chr3:133942732..133942733 [GRCh38]
Chr3:133661576..133661577 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.234+17G>T |
single nucleotide variant |
not provided [RCV003877292] |
Chr3:133979464 [GRCh38]
Chr3:133698308 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1106-1G>A |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643501] |
Chr3:133947446 [GRCh38]
Chr3:133666290 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.794del (p.Ser264_Ser265insTer) |
deletion |
not provided [RCV003876329] |
Chr3:133951275 [GRCh38]
Chr3:133670119 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.336C>T (p.Ala112=) |
single nucleotide variant |
not provided [RCV003579095] |
Chr3:133973724 [GRCh38]
Chr3:133692568 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.625+10C>T |
single nucleotide variant |
not provided [RCV003828922] |
Chr3:133954956 [GRCh38]
Chr3:133673800 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.178G>A (p.Glu60Lys) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643502] |
Chr3:133979537 [GRCh38]
Chr3:133698381 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.759G>A (p.Trp253Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643503] |
Chr3:133951310 [GRCh38]
Chr3:133670154 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.855del (p.Ala286fs) |
deletion |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643509] |
Chr3:133951214 [GRCh38]
Chr3:133670058 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.440G>A (p.Trp147Ter) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643504] |
Chr3:133955151 [GRCh38]
Chr3:133673995 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1095C>A (p.Asn365Lys) |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643505] |
Chr3:133948546 [GRCh38]
Chr3:133667390 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1461+1G>C |
single nucleotide variant |
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 [RCV003643510] |
Chr3:133945094 [GRCh38]
Chr3:133663938 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.1767G>A (p.Gly589=) |
single nucleotide variant |
not provided [RCV003828187] |
Chr3:133935821 [GRCh38]
Chr3:133654665 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.120C>T (p.Leu40=) |
single nucleotide variant |
not provided [RCV003852355] |
Chr3:133979595 [GRCh38]
Chr3:133698439 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.900G>A (p.Glu300=) |
single nucleotide variant |
not provided [RCV003698370] |
Chr3:133948933 [GRCh38]
Chr3:133667777 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.546C>T (p.Ile182=) |
single nucleotide variant |
not provided [RCV003726425] |
Chr3:133955045 [GRCh38]
Chr3:133673889 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1917G>A (p.Ala639=) |
single nucleotide variant |
not provided [RCV003548793] |
Chr3:133934728 [GRCh38]
Chr3:133653572 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1625+8G>C |
single nucleotide variant |
not provided [RCV003855785] |
Chr3:133942597 [GRCh38]
Chr3:133661441 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1827G>A (p.Leu609=) |
single nucleotide variant |
not provided [RCV003851454] |
Chr3:133934818 [GRCh38]
Chr3:133653662 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.582T>C (p.Tyr194=) |
single nucleotide variant |
not provided [RCV003665654] |
Chr3:133955009 [GRCh38]
Chr3:133673853 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1347G>A (p.Ser449=) |
single nucleotide variant |
not provided [RCV003815827] |
Chr3:133945209 [GRCh38]
Chr3:133664053 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.861+13G>C |
single nucleotide variant |
not provided [RCV003680026] |
Chr3:133951195 [GRCh38]
Chr3:133670039 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.645T>G (p.Ser215=) |
single nucleotide variant |
not provided [RCV003708048] |
Chr3:133953742 [GRCh38]
Chr3:133672586 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.147C>T (p.Ser49=) |
single nucleotide variant |
not provided [RCV003844127] |
Chr3:133979568 [GRCh38]
Chr3:133698412 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.918C>T (p.Gly306=) |
single nucleotide variant |
not provided [RCV003709983] |
Chr3:133948915 [GRCh38]
Chr3:133667759 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.139C>G (p.Leu47Val) |
single nucleotide variant |
not provided [RCV003568186] |
Chr3:133979576 [GRCh38]
Chr3:133698420 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.626-4C>T |
single nucleotide variant |
not provided [RCV003847407] |
Chr3:133953765 [GRCh38]
Chr3:133672609 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1296-17dup |
duplication |
not provided [RCV003819178] |
Chr3:133945276..133945277 [GRCh38]
Chr3:133664120..133664121 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1497C>T (p.Ser499=) |
single nucleotide variant |
not provided [RCV003553250] |
Chr3:133942733 [GRCh38]
Chr3:133661577 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.862-4T>C |
single nucleotide variant |
not provided [RCV003720439] |
Chr3:133948975 [GRCh38]
Chr3:133667819 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.724+8T>C |
single nucleotide variant |
not provided [RCV003857769] |
Chr3:133953655 [GRCh38]
Chr3:133672499 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.732T>C (p.Val244=) |
single nucleotide variant |
not provided [RCV003681930] |
Chr3:133951337 [GRCh38]
Chr3:133670181 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1572C>T (p.Phe524=) |
single nucleotide variant |
not provided [RCV003728136] |
Chr3:133942658 [GRCh38]
Chr3:133661502 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1899G>A (p.Glu633=) |
single nucleotide variant |
not provided [RCV003554100] |
Chr3:133934746 [GRCh38]
Chr3:133653590 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.873C>T (p.Ala291=) |
single nucleotide variant |
not provided [RCV003732396] |
Chr3:133948960 [GRCh38]
Chr3:133667804 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.102T>C (p.Phe34=) |
single nucleotide variant |
not provided [RCV003678438] |
Chr3:133979613 [GRCh38]
Chr3:133698457 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.1278C>T (p.Ala426=) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003954371] |
Chr3:133947273 [GRCh38]
Chr3:133666117 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.126G>A (p.Gln42=) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003911936] |
Chr3:133979589 [GRCh38]
Chr3:133698433 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.209_210insA (p.Leu72fs) |
insertion |
Pachydermoperiostosis syndrome [RCV003994633] |
Chr3:133979505..133979506 [GRCh38]
Chr3:133698349..133698350 [GRCh37]
Chr3:3q22.1 |
pathogenic |
| NM_005630.3(SLCO2A1):c.252C>T (p.Leu84=) |
single nucleotide variant |
SLCO2A1-related disorder [RCV003961429] |
Chr3:133973808 [GRCh38]
Chr3:133692652 [GRCh37]
Chr3:3q22.1 |
likely benign |
| NM_005630.3(SLCO2A1):c.388G>T (p.Ala130Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004457156] |
Chr3:133973672 [GRCh38]
Chr3:133692516 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1153A>C (p.Ile385Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004457152] |
Chr3:133947398 [GRCh38]
Chr3:133666242 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1297A>G (p.Thr433Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004457153] |
Chr3:133945259 [GRCh38]
Chr3:133664103 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.28T>C (p.Ser10Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004457155] |
Chr3:134029775 [GRCh38]
Chr3:133748619 [GRCh37]
Chr3:3q22.2 |
likely benign |
| NM_005630.3(SLCO2A1):c.1534G>C (p.Ala512Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004457154] |
Chr3:133942696 [GRCh38]
Chr3:133661540 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.613C>T (p.Pro205Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004667412] |
Chr3:133954978 [GRCh38]
Chr3:133673822 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.124C>G (p.Gln42Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004667413] |
Chr3:133979591 [GRCh38]
Chr3:133698435 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1133T>C (p.Leu378Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004667411] |
Chr3:133947418 [GRCh38]
Chr3:133666262 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.656C>T (p.Pro219Leu) |
single nucleotide variant |
not specified [RCV004597518] |
Chr3:133953731 [GRCh38]
Chr3:133672575 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.1099C>G (p.Leu367Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004667410] |
Chr3:133948542 [GRCh38]
Chr3:133667386 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
| NM_005630.3(SLCO2A1):c.398G>A (p.Gly133Glu) |
single nucleotide variant |
not provided [RCV004773971] |
Chr3:133955193 [GRCh38]
Chr3:133674037 [GRCh37]
Chr3:3q22.1 |
uncertain significance |
