Position |
HGVS |
dbSNP id |
Phenotype List |
Distance |
Clinvar Significance |
2:176940017 |
GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1 |
NA |
See cases | -17770 |
Pathogenic |
2:176940017 |
GRCh38/hg38 2q31.1(chr2:176075289-176156257)x1 |
NA |
See cases | -17770 |
Pathogenic |
2:176945303 |
NM_001080458.2(EVX2):c.963C>G (p.Thr321=) |
rs200844347 |
not provided | -12484 |
Benign |
2:176950926 |
GRCh37/hg19 2q31.1(chr2:176950926-177047801)x3 |
NA |
not provided | -6861 |
Benign |
2:176951487 |
GRCh37/hg19 2q31.1(chr2:176951487-177070756)x3 |
NA |
not provided | -6300 |
Benign |
2:176951491 |
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 |
NA |
See cases | -6296 |
Pathogenic |
2:176951491 |
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 |
NA |
See cases | -6296 |
Pathogenic |
2:176955723 |
GRCh38/hg38 2q31.1(chr2:176090995-176108288)x3 |
NA |
See cases | -2064 |
Uncertain significance |
2:176955723 |
GRCh38/hg38 2q31.1(chr2:176090995-176108288)x3 |
NA |
See cases | -2064 |
Uncertain significance |
2:176957201 |
Single allele |
NA |
not provided | -586 |
Benign |
2:176957230 |
Single allele |
NA |
not provided | -557 |
Benign |
2:176957519 |
NM_000523.4(HOXD13):c.-100C>A |
NA |
not provided | -268 |
Likely benign |
2:176957580 |
NM_000523.4(HOXD13):c.-39G>C |
NA |
not provided | -207 |
Benign |
2:176957650 |
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) |
rs536639583 |
Synpolydactyly type 1|not provided | -137 |
Uncertain significance |
2:176957650 |
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) |
rs536639583 |
Synpolydactyly type 1|not provided | -137 |
Uncertain significance |
2:176957659 |
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) |
rs555136684 |
not specified|not provided | -128 |
Benign/Likely benign |
2:176957694 |
NM_000523.4(HOXD13):c.78CTC[2] (p.Ser30del) |
NA |
not provided | -93 |
Uncertain significance |
2:176957753 |
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) |
rs757175860 |
not provided | -34 |
Uncertain significance |
2:176957781 |
NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) |
rs587776824 |
VACTERL association | -6 |
Uncertain significance |
2:176957781 |
NM_000523.4(HOXD13):c.164_184del (p.Gly55_Ala61del) |
rs587776824 |
VACTERL association | -6 |
Uncertain significance |
2:176957785 |
NM_000523.4(HOXD13):c.168GGC[8] (p.Ala69_Ala71dup) |
rs3832095 |
not provided | -2 |
Uncertain significance |
2:176957785 |
NM_000523.4(HOXD13):c.168GGC[6] (p.Ala71dup) |
NA |
Brachydactyly-syndactyly syndrome | -2 |
Likely benign |
2:176957785 |
NM_000523.4(HOXD13):c.186_212dup (p.Ala63_Ala71dup) |
NA |
not provided | -2 |
Pathogenic |
2:176957785 |
NM_000523.4(HOXD13):c.167G>A (p.Arg56Gln) |
NA |
not provided | -2 |
Uncertain significance |
2:176957786 |
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup) |
NA |
not provided | -1 |
Pathogenic |
2:176957786 |
NM_000523.4(HOXD13):c.168GGC[1] (p.Ala68_Ala71del) |
NA |
not provided | -1 |
Uncertain significance |
2:176957788 |
NM_000523.4(HOXD13):c.170C>T (p.Ala57Val) |
NA |
not provided | 1 |
Uncertain significance |
2:176957790 |
NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del) |
rs878854346 |
Brachydactyly-syndactyly syndrome | 3 |
Pathogenic |
2:176957790 |
NM_000523.4(HOXD13):c.183_203del (p.Ala65_Ala71del) |
rs878854346 |
Brachydactyly-syndactyly syndrome | 3 |
Pathogenic |
2:176957793 |
NM_000523.4(HOXD13):c.183_191del (p.Ala69_Ala71del) |
rs749930395 |
not specified|not provided | 6 |
Benign/Likely benign |
2:176957802 |
NM_000523.4(HOXD13):c.192_200del (p.Ala69_Ala71del) |
NA |
not provided | 15 |
Likely benign |
2:176957820 |
NM_000523.4(HOXD13):c.202G>C (p.Ala68Pro) |
NA |
not provided | 33 |
Uncertain significance |
2:176957821 |
NM_000523.4(HOXD13):c.203_204insA (p.Ala69fs) |
NA |
not provided | 34 |
Likely pathogenic |
2:176957822 |
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup) |
rs878854345 |
Syndactyly type 5|Synpolydactyly type 1 | 35 |
Pathogenic |
2:176957822 |
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) |
rs2518053 |
not specified|Syndactyly type 5|not provided|Synpolydactyly type 1|Brachydactyly type E1|Brachydactyly type D | 35 |
Benign |
2:176957822 |
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup) |
rs878854345 |
Syndactyly type 5|Synpolydactyly type 1 | 35 |
Pathogenic |
2:176957822 |
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) |
rs2518053 |
not specified|Syndactyly type 5|not provided|Synpolydactyly type 1|Brachydactyly type E1|Brachydactyly type D | 35 |
Benign |
2:176957822 |
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup) |
rs775525473 |
Synpolydactyly type 1|not provided | 35 |
Pathogenic |
2:176957835 |
NM_000523.4(HOXD13):c.217G>A (p.Gly73Ser) |
rs544449825 |
Brachydactyly-syndactyly syndrome | 48 |
Uncertain significance |
2:176957859 |
NM_000523.4(HOXD13):c.241G>A (p.Glu81Lys) |
NA |
not provided | 72 |
Uncertain significance |
2:176957878 |
NM_000523.4(HOXD13):c.260C>G (p.Ser87Trp) |
NA |
not provided | 91 |
Uncertain significance |
2:176957885 |
NM_000523.4(HOXD13):c.267G>A (p.Ser89=) |
rs772479524 |
not provided | 98 |
Benign |
2:176957914 |
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg) |
rs143487752 |
not provided | 127 |
Uncertain significance |
2:176957931 |
NM_000523.4(HOXD13):c.314_315del (p.Lys105fs) |
NA |
not provided | 144 |
Pathogenic |
2:176957932 |
NM_000523.4(HOXD13):c.314A>C (p.Lys105Thr) |
rs200514497 |
not provided | 145 |
Benign/Likely benign |
2:176957941 |
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs) |
rs878854343 |
Synpolydactyly type 1 | 154 |
Pathogenic |
2:176957941 |
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs) |
rs878854343 |
Synpolydactyly type 1 | 154 |
Pathogenic |
2:176958011 |
NM_000523.4(HOXD13):c.393C>T (p.Phe131=) |
rs847195 |
not specified|not provided | 224 |
Benign |
2:176958118 |
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) |
rs200067774 |
not specified|not provided | 331 |
Conflicting interpretations of pathogenicity |
2:176958118 |
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) |
rs200067774 |
not specified|not provided | 331 |
Conflicting interpretations of pathogenicity |
2:176958131 |
NM_000523.4(HOXD13):c.513A>G (p.Ser171=) |
rs1221715617 |
not provided | 344 |
Uncertain significance |
2:176958156 |
NM_000523.4(HOXD13):c.542_552del (p.Asn181fs) |
NA |
not provided | 369 |
Pathogenic |
2:176958159 |
NM_000523.4(HOXD13):c.541A>G (p.Asn181Asp) |
rs148979353 |
not specified | 372 |
Likely benign |
2:176958178 |
NM_000523.4(HOXD13):c.560C>G (p.Ala187Gly) |
rs1431472260 |
not provided | 391 |
Uncertain significance |
2:176958191 |
NM_000523.4(HOXD13):c.575_577del (p.Phe192del) |
rs1559108268 |
not provided | 404 |
Uncertain significance |
2:176958231 |
NM_000523.4(HOXD13):c.613G>A (p.Gly205Ser) |
NA |
not provided | 444 |
Uncertain significance |
2:176958235 |
NM_000523.4(HOXD13):c.617A>G (p.Tyr206Cys) |
NA |
not provided | 448 |
Likely benign |
2:176958241 |
NM_000523.4(HOXD13):c.623A>T (p.Asp208Val) |
NA |
Synpolydactyly type 1 | 454 |
Uncertain significance |
2:176958292 |
NM_000523.4(HOXD13):c.674C>G (p.Ser225Cys) |
rs367674921 |
not provided | 505 |
Uncertain significance |
2:176958301 |
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val) |
rs121912541 |
Synpolydactyly type 1 | 514 |
Pathogenic |
2:176958301 |
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala) |
rs121912541 |
Synpolydactyly type 1 | 514 |
Pathogenic |
2:176958301 |
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val) |
rs121912541 |
Synpolydactyly type 1 | 514 |
Pathogenic |
2:176958301 |
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala) |
rs121912541 |
Synpolydactyly type 1 | 514 |
Pathogenic |
2:176958326 |
NM_000523.4(HOXD13):c.708del (p.Asn236fs) |
NA |
Synpolydactyly type 1 | 539 |
Pathogenic |
2:176958327 |
NM_000523.4(HOXD13):c.709G>C (p.Gly237Arg) |
rs1689365853 |
Synpolydactyly type 1 | 540 |
Uncertain significance |
2:176958359 |
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs) |
rs1574943406 |
Brachydactyly type E1;Brachydactyly type D;Synpolydactyly type 1;Syndactyly type 5 | 572 |
Pathogenic |
2:176958360 |
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter) |
rs878854400 |
Synpolydactyly type 1 | 573 |
Pathogenic |
2:176958360 |
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter) |
rs878854400 |
Synpolydactyly type 1 | 573 |
Pathogenic |
2:176958400 |
NM_000523.4(HOXD13):c.781+1G>A |
rs886037831 |
Synpolydactyly type 1 | 613 |
Pathogenic |
2:176958400 |
NM_000523.4(HOXD13):c.781+1G>A |
rs886037831 |
Synpolydactyly type 1 | 613 |
Pathogenic |
2:176958450 |
NM_000523.4(HOXD13):c.781+51G>T |
NA |
not provided | 663 |
Likely benign |
2:176958701 |
NM_000523.4(HOXD13):c.781+302A>C |
NA |
not provided | 914 |
Benign |
2:176958962 |
NM_000523.4(HOXD13):c.782-246C>T |
NA |
not provided | 1175 |
Benign |
2:176959008 |
NM_000523.4(HOXD13):c.782-200A>G |
NA |
not provided | 1221 |
Benign |
2:176959079 |
NM_000523.4(HOXD13):c.782-129G>A |
NA |
not provided | 1292 |
Benign |
2:176959113 |
NM_000523.4(HOXD13):c.782-94CA[19] |
NA |
not provided | 1326 |
Benign |
2:176959113 |
NM_000523.4(HOXD13):c.782-94CA[17] |
NA |
not provided | 1326 |
Benign |
2:176959113 |
NM_000523.4(HOXD13):c.782-94CA[18] |
NA |
not provided | 1326 |
Benign |
2:176959114 |
NM_000523.4(HOXD13):c.782-94CA[15] |
NA |
not provided | 1327 |
Likely benign |
2:176959206 |
NM_000523.4(HOXD13):c.782-2del |
rs764838478 |
Synpolydactyly type 1 | 1419 |
Pathogenic |
2:176959206 |
NM_000523.4(HOXD13):c.782-2del |
rs764838478 |
Synpolydactyly type 1 | 1419 |
Pathogenic |
2:176959233 |
NM_000523.4(HOXD13):c.807C>T (p.Asp269=) |
NA |
not provided | 1446 |
Likely benign |
2:176959239 |
NM_000523.4(HOXD13):c.813C>T (p.Cys271=) |
NA |
not provided | 1452 |
Likely benign |
2:176959246 |
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) |
rs200750564 |
6 conditions|not provided|Inborn genetic diseases|Synpolydactyly type 1|Brachydactyly-syndactyly syndrome|Synpolydactyly | 1459 |
Pathogenic/Likely pathogenic |
2:176959260 |
NM_000523.4(HOXD13):c.834del (p.Lys279fs) |
rs878854344 |
Synpolydactyly type 1 | 1473 |
Pathogenic |
2:176959260 |
NM_000523.4(HOXD13):c.834del (p.Lys279fs) |
rs878854344 |
Synpolydactyly type 1 | 1473 |
Pathogenic |
2:176959285 |
NM_000523.4(HOXD13):c.859C>A (p.Gln287Lys) |
NA |
not provided | 1498 |
Uncertain significance |
2:176959318 |
NM_000523.4(HOXD13):c.894_896del (p.Asn298del) |
rs749985629 |
not provided | 1531 |
Conflicting interpretations of pathogenicity |
2:176959338 |
NM_000523.4(HOXD13):c.912C>G (p.Asp304Glu) |
rs1553517346 |
not provided | 1551 |
Uncertain significance |
2:176959342 |
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) |
rs28933082 |
Synpolydactyly type 1 | 1555 |
Likely pathogenic |
2:176959342 |
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly) |
rs28933082 |
Synpolydactyly type 1 | 1555 |
Pathogenic |
2:176959342 |
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp) |
rs28933082 |
Synpolydactyly type 1 | 1555 |
Likely pathogenic |
2:176959342 |
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly) |
rs28933082 |
Synpolydactyly type 1 | 1555 |
Pathogenic |
2:176959343 |
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln) |
rs879255265 |
Synpolydactyly type 1 | 1556 |
Pathogenic |
2:176959343 |
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln) |
rs879255265 |
Synpolydactyly type 1 | 1556 |
Pathogenic |
2:176959349 |
NM_000523.4(HOXD13):c.923G>A (p.Arg308His) |
NA |
not provided | 1562 |
Uncertain significance |
2:176959363 |
NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro) |
rs1301927745 |
Abnormality of finger | 1576 |
Uncertain significance |
2:176959373 |
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) |
rs28928892 |
Brachydactyly type E1|Brachydactyly type D | 1586 |
Pathogenic |
2:176959373 |
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys) |
rs28928892 |
Brachydactyly type E1|Brachydactyly type D | 1586 |
Pathogenic |
2:176959378 |
NM_000523.4(HOXD13):c.952A>G (p.Arg318Gly) |
NA |
not provided | 1591 |
Uncertain significance |
2:176959390 |
NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu) |
rs28928891 |
Brachydactyly type E1|Brachydactyly type D | 1603 |
Pathogenic |
2:176959390 |
NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu) |
rs28928891 |
Brachydactyly type E1|Brachydactyly type D | 1603 |
Pathogenic |
2:176959399 |
NM_000523.4(HOXD13):c.973C>A (p.Gln325Lys) |
rs875989842 |
Brachydactyly-syndactyly-oligodactyly syndrome | 1612 |
Pathogenic |
2:176959399 |
NM_000523.4(HOXD13):c.973C>A (p.Gln325Lys) |
rs875989842 |
Brachydactyly-syndactyly-oligodactyly syndrome | 1612 |
Pathogenic |
2:176959400 |
NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg) |
rs104893635 |
Syndactyly type 5 | 1613 |
Pathogenic |
2:176959400 |
NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg) |
rs104893635 |
Syndactyly type 5 | 1613 |
Pathogenic |
2:176959769 |
NM_000523.4(HOXD13):c.*311C>T |
NA |
not provided | 1982 |
Benign |
2:176973657 |
NM_021192.3(HOXD11):c.804A>G (p.Lys268=) |
rs142296120 |
not provided | 15870 |
Likely benign |
2:176973732 |
NM_021192.3(HOXD11):c.879A>G (p.Lys293=) |
rs78492630 |
not provided | 15945 |
Benign |
2:176973807 |
NM_021192.3(HOXD11):c.954G>A (p.Arg318=) |
rs138394594 |
not provided | 16020 |
Benign |
2:176981552 |
NM_002148.4(HOXD10):c.-10C>A |
rs781377305 |
Congenital vertical talus | 23765 |
Uncertain significance |
2:176981556 |
NM_002148.4(HOXD10):c.-6C>G |
rs538359875 |
Congenital vertical talus | 23769 |
Uncertain significance |
2:176981648 |
NM_002148.4(HOXD10):c.87C>T (p.Ser29=) |
rs752887490 |
Congenital vertical talus | 23861 |
Uncertain significance |
2:176981677 |
NM_002148.4(HOXD10):c.116C>T (p.Pro39Leu) |
rs886055157 |
Congenital vertical talus | 23890 |
Uncertain significance |
2:176981691 |
NM_002148.4(HOXD10):c.130G>A (p.Gly44Arg) |
rs145541578 |
not specified | 23904 |
Uncertain significance |
2:176981827 |
NM_002148.4(HOXD10):c.266G>A (p.Arg89Gln) |
rs374700658 |
Congenital vertical talus | 24040 |
Likely benign |
2:176981845 |
NM_002148.4(HOXD10):c.284C>A (p.Thr95Lys) |
rs1064797272 |
not provided | 24058 |
Uncertain significance |
2:176981853 |
NM_002148.4(HOXD10):c.292G>A (p.Val98Ile) |
rs760536872 |
not provided | 24066 |
Uncertain significance |
2:176981933 |
NM_002148.4(HOXD10):c.372T>G (p.Ile124Met) |
rs149038150 |
Congenital vertical talus | 24146 |
Benign |
2:176981981 |
NM_002148.4(HOXD10):c.420C>G (p.Pro140=) |
rs375702128 |
Congenital vertical talus | 24194 |
Uncertain significance |
2:176981990 |
NM_002148.4(HOXD10):c.429C>T (p.Asn143=) |
rs1222562257 |
not specified | 24203 |
Likely benign |
2:176982026 |
NM_002148.4(HOXD10):c.465T>C (p.Ser155=) |
rs141770128 |
Congenital vertical talus | 24239 |
Benign |
2:176982104 |
NM_002148.4(HOXD10):c.543C>A (p.Asn181Lys) |
rs886055158 |
Congenital vertical talus | 24317 |
Uncertain significance |
2:176982122 |
NM_002148.4(HOXD10):c.561G>A (p.Lys187=) |
rs143870330 |
Congenital vertical talus | 24335 |
Uncertain significance |
2:176982142 |
NM_002148.4(HOXD10):c.581A>G (p.Gln194Arg) |
rs769981285 |
Congenital vertical talus | 24355 |
Likely benign |
2:176982184 |
NM_002148.4(HOXD10):c.623A>G (p.Gln208Arg) |
rs575171191 |
Congenital vertical talus | 24397 |
Likely benign |
2:176982245 |
NM_002148.4(HOXD10):c.684G>C (p.Glu228Asp) |
rs1378675941 |
Congenital vertical talus | 24458 |
Uncertain significance |
2:176982325 |
NM_002148.4(HOXD10):c.745+19G>A |
rs114841233 |
not provided | 24538 |
Benign |
2:176983679 |
NM_002148.4(HOXD10):c.746-3T>C |
rs56941395 |
not provided | 25892 |
Benign |
2:176983704 |
NM_002148.4(HOXD10):c.768A>C (p.Pro256=) |
rs61740491 |
not provided | 25917 |
Benign |
2:176983722 |
NM_002148.4(HOXD10):c.786T>A (p.Thr262=) |
rs755118732 |
Congenital vertical talus | 25935 |
Uncertain significance |
2:176983892 |
NM_002148.4(HOXD10):c.956T>A (p.Met319Lys) |
rs104893634 |
Congenital vertical talus | 26105 |
Pathogenic |
2:176983892 |
NM_002148.4(HOXD10):c.956T>A (p.Met319Lys) |
rs104893634 |
Congenital vertical talus | 26105 |
Pathogenic |
2:176983923 |
NM_002148.4(HOXD10):c.987G>C (p.Arg329=) |
rs33913965 |
Congenital vertical talus|not provided | 26136 |
Benign |
2:176983934 |
NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro) |
rs144160937 |
Congenital vertical talus | 26147 |
Benign |
2:176983961 |
NM_002148.4(HOXD10):c.*2T>C |
rs116807022 |
Congenital vertical talus|not provided | 26174 |
Benign |
2:176983980 |
NM_002148.4(HOXD10):c.*21C>T |
rs570165195 |
Congenital vertical talus | 26193 |
Uncertain significance |
2:176983993 |
NM_002148.4(HOXD10):c.*34G>A |
rs1689824324 |
Congenital vertical talus | 26206 |
Uncertain significance |
2:176984006 |
NM_002148.4(HOXD10):c.*47G>T |
rs114746583 |
Congenital vertical talus | 26219 |
Benign |
2:176984014 |
NM_002148.4(HOXD10):c.*55G>T |
rs61070787 |
Congenital vertical talus | 26227 |
Benign |
2:176984035 |
NM_002148.4(HOXD10):c.*76G>C |
rs558709855 |
Congenital vertical talus | 26248 |
Uncertain significance |
2:176984042 |
NM_002148.4(HOXD10):c.*83G>A |
rs1008365837 |
Congenital vertical talus | 26255 |
Uncertain significance |
2:176984163 |
NM_002148.4(HOXD10):c.*205TA[21] |
rs6147035 |
Congenital vertical talus | 26376 |
Uncertain significance |
2:176984163 |
NM_002148.4(HOXD10):c.*205TA[23] |
rs6147035 |
Congenital vertical talus | 26376 |
Uncertain significance |
2:176984163 |
NM_002148.4(HOXD10):c.*205TA[18] |
rs6147035 |
Congenital vertical talus | 26376 |
Uncertain significance |
2:176984163 |
NM_002148.4(HOXD10):c.*205TA[17] |
rs6147035 |
Congenital vertical talus | 26376 |
Uncertain significance |
2:176984164 |
NM_002148.4(HOXD10):c.*205TA[14] |
rs6147035 |
Congenital vertical talus | 26377 |
Uncertain significance |
2:176984164 |
NM_002148.4(HOXD10):c.*205TA[13] |
rs6147035 |
Congenital vertical talus | 26377 |
Uncertain significance |
2:176984167 |
NM_002148.4(HOXD10):c.*208A>G |
rs867143553 |
Congenital vertical talus | 26380 |
Uncertain significance |
2:176984192 |
NM_002148.4(HOXD10):c.*233T>A |
rs867263804 |
Congenital vertical talus | 26405 |
Uncertain significance |
2:176984192 |
NM_002148.4(HOXD10):c.*234AT[8]AAA[1] |
NA |
not provided | 26405 |
Benign |
2:176984194 |
NM_002148.4(HOXD10):c.*235delinsTATATATATATATATAT |
rs886055161 |
Congenital vertical talus | 26407 |
Uncertain significance |
2:176984194 |
NM_002148.4(HOXD10):c.*235delinsTATATATATAT |
rs886055161 |
Congenital vertical talus | 26407 |
Uncertain significance |
2:176984194 |
NM_002148.4(HOXD10):c.*235A>T |
rs76652386 |
Congenital vertical talus | 26407 |
Uncertain significance |
2:176984229 |
NM_002148.4(HOXD10):c.*270G>A |
rs779201977 |
Congenital vertical talus | 26442 |
Uncertain significance |
2:176984237 |
NM_002148.4(HOXD10):c.*278G>A |
rs565659273 |
Congenital vertical talus | 26450 |
Uncertain significance |
2:176984238 |
NM_002148.4(HOXD10):c.*279G>A |
rs150556295 |
Congenital vertical talus | 26451 |
Benign |
2:176984427 |
NM_002148.4(HOXD10):c.*468A>T |
rs532592274 |
Congenital vertical talus | 26640 |
Uncertain significance |
2:176984454 |
NM_002148.4(HOXD10):c.*495A>T |
rs13403839 |
Congenital vertical talus | 26667 |
Benign |
2:176984544 |
NM_002148.4(HOXD10):c.*585C>T |
rs72923454 |
Congenital vertical talus | 26757 |
Benign |
2:176984602 |
NM_002148.4(HOXD10):c.*643C>T |
rs552102680 |
Congenital vertical talus | 26815 |
Benign |
2:176987516 |
NM_014213.4(HOXD9):c.20G>C (p.Gly7Ala) |
rs186057872 |
not provided | 29729 |
Benign |
2:176988765 |
NM_014213.4(HOXD9):c.921C>T (p.Asn307=) |
rs35649704 |
not provided | 30978 |
Benign |
2:176989222 |
GRCh38/hg38 2q31.1(chr2:176124494-176124918)x3 |
NA |
See cases | 31435 |
Benign |
2:176989222 |
GRCh38/hg38 2q31.1(chr2:176124494-176124918)x3 |
NA |
See cases | 31435 |
Benign |