Position |
HGVS |
dbSNP id |
Phenotype List |
Distance |
Clinvar Significance |
6:45341183 |
NC_000006.11:g.45308920_45413885dup |
NA |
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | -49305 |
Pathogenic |
6:45352106 |
GRCh37/hg19 6p21.1(chr6:45352106-45382450)x1 |
NA |
not provided | -38382 |
Uncertain significance |
6:45389289 |
NM_001024630.4(RUNX2):c.59-1041T>C |
NA |
not provided | -1199 |
Benign |
6:45389658 |
NM_001024630.4(RUNX2):c.59-672T>A |
NA |
not provided | -830 |
Benign |
6:45389841 |
NM_001024630.4(RUNX2):c.59-489G>A |
NA |
not provided | -647 |
Likely benign |
6:45390088 |
NM_001024630.4(RUNX2):c.59-242G>T |
NA |
not provided | -400 |
Likely benign |
6:45390324 |
NM_001024630.4(RUNX2):c.59-6C>T |
NA |
not provided | -164 |
Uncertain significance |
6:45390345 |
NM_001024630.4(RUNX2):c.74G>A (p.Arg25Gln) |
NA |
not provided | -143 |
Uncertain significance |
6:45390348 |
NM_001024630.4(RUNX2):c.77G>C (p.Arg26Pro) |
NA |
not provided | -140 |
Uncertain significance |
6:45390354 |
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) |
rs397515538 |
Cleidocranial dysostosis | -134 |
not provided |
6:45390354 |
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) |
rs397515538 |
Cleidocranial dysostosis | -134 |
not provided |
6:45390355 |
NM_001024630.4(RUNX2):c.90del (p.Ser31fs) |
rs397515538 |
Cleidocranial dysostosis | -133 |
Likely pathogenic |
6:45390359 |
NM_001024630.4(RUNX2):c.88C>G (p.Pro30Ala) |
NA |
not provided | -129 |
Uncertain significance |
6:45390380 |
NM_001024630.4(RUNX2):c.109G>T (p.Gly37Cys) |
NA |
not provided | -108 |
Uncertain significance |
6:45390395 |
NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu) |
rs753332305 |
Cleidocranial dysostosis | -93 |
Benign |
6:45390408 |
NM_001024630.4(RUNX2):c.138_175dup (p.Gln59fs) |
NA |
not provided | -80 |
Pathogenic |
6:45390414 |
NM_001024630.4(RUNX2):c.159_185dup (p.Gln63_Gln71dup) |
NA |
not provided | -74 |
Uncertain significance |
6:45390415 |
NM_001024630.4(RUNX2):c.159_185del (p.Gln63_Gln71del) |
rs747537373 |
not specified | -73 |
Likely benign |
6:45390415 |
NM_001024630.4(RUNX2):c.147ACAGCAGCAGCA[1] (p.Gln68_Gln71del) |
NA |
not provided | -73 |
Uncertain significance |
6:45390418 |
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) |
rs781355841 |
Cleidocranial dysostosis|not provided | -70 |
Uncertain significance |
6:45390419 |
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[1] (p.Gln67_Gln71del) |
rs781355841 |
not provided | -69 |
Uncertain significance |
6:45390422 |
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys) |
rs368475300 |
not specified | -66 |
Likely benign |
6:45390430 |
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[3] (p.Gln65_Gln71dup) |
rs774172072 |
not provided | -58 |
Uncertain significance |
6:45390431 |
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) |
rs774172072 |
not specified|not provided | -57 |
Conflicting interpretations of pathogenicity |
6:45390431 |
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) |
rs774172072 |
not specified|not provided | -57 |
Conflicting interpretations of pathogenicity |
6:45390433 |
NM_001024630.4(RUNX2):c.174_185dup (p.Gln68_Gln71dup) |
NA |
not provided | -55 |
Conflicting interpretations of pathogenicity |
6:45390445 |
NM_001024630.4(RUNX2):c.177GCA[8] (p.Gln70_Gln71dup) |
rs759395776 |
not provided | -43 |
Uncertain significance |
6:45390445 |
NM_001024630.4(RUNX2):c.174A>G (p.Gln58=) |
NA |
not provided | -43 |
Likely benign |
6:45390445 |
NM_001024630.4(RUNX2):c.177GCA[7] (p.Gln71dup) |
NA |
not provided | -43 |
Conflicting interpretations of pathogenicity |
6:45390445 |
NM_001024630.4(RUNX2):c.177GCA[11] (p.Gln67_Gln71dup) |
NA |
not provided | -43 |
Uncertain significance |
6:45390446 |
NM_001024630.4(RUNX2):c.190_213del (p.Gln64_Gln71del) |
NA |
not provided | -42 |
Uncertain significance |
6:45390447 |
NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg) |
rs779943223 |
Cleidocranial dysostosis|not provided | -41 |
Conflicting interpretations of pathogenicity |
6:45390448 |
NM_001024630.4(RUNX2):c.177G>A (p.Gln59=) |
NA |
not provided | -40 |
Likely benign |
6:45390451 |
NM_001024630.4(RUNX2):c.195_209dup (p.Gln67_Gln71dup) |
NA |
not provided | -37 |
Uncertain significance |
6:45390455 |
NM_001024630.4(RUNX2):c.184C>T (p.Gln62Ter) |
NA |
not provided | -33 |
Pathogenic |
6:45390460 |
NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) |
rs730880313 |
Cleidocranial dysostosis | -28 |
Pathogenic |
6:45390460 |
NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) |
rs730880313 |
Cleidocranial dysostosis | -28 |
Pathogenic |
6:45390466 |
NM_001024630.4(RUNX2):c.195A>G (p.Gln65=) |
NA |
not provided|not specified | -22 |
Likely benign |
6:45390466 |
NM_001024630.4(RUNX2):c.196CAG[7] (p.Gln71dup) |
NA |
not provided | -22 |
Uncertain significance |
6:45390470 |
NM_001024630.4(RUNX2):c.199_200del (p.Gln67fs) |
rs1798243337 |
not provided | -18 |
Uncertain significance |
6:45390471 |
NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG (p.Glu72fs) |
NA |
not provided | -17 |
Pathogenic |
6:45390472 |
NM_001024630.4(RUNX2):c.201G>A (p.Gln67=) |
NA |
not specified | -16 |
Likely benign |
6:45390474 |
NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs) |
rs1798243790 |
Cleidocranial dysostosis | -14 |
Likely pathogenic |
6:45390481 |
NM_001024630.4(RUNX2):c.210G>A (p.Gln70=) |
NA |
not provided | -7 |
Likely benign |
6:45390482 |
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter) |
rs774631263 |
Cleidocranial dysostosis|not provided | -6 |
Likely pathogenic |
6:45390486 |
NM_001024630.4(RUNX2):c.216GGC[6] (p.Ala89dup) |
rs746557318 |
not provided | -2 |
Uncertain significance |
6:45390486 |
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[3] (p.Ala84_Ala89dup) |
NA |
not provided | -2 |
Uncertain significance |
6:45390486 |
NM_001024630.4(RUNX2):c.216GGC[7] (p.Ala88_Ala89dup) |
NA |
not provided | -2 |
Uncertain significance |
6:45390487 |
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) |
rs1554384228 |
Cleidocranial dysostosis|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | -1 |
Conflicting interpretations of pathogenicity |
6:45390487 |
NM_001024630.4(RUNX2):c.228_260dup (p.Ala79_Ala89dup) |
NA |
not provided | -1 |
Uncertain significance |
6:45390487 |
NM_001024630.4(RUNX2):c.228_248del (p.Ala83_Ala89del) |
NA |
not provided | -1 |
Uncertain significance |
6:45390487 |
NM_001024630.4(RUNX2):c.216GGC[4] (p.Ala89del) |
NA |
not provided | -1 |
Uncertain significance |
6:45390487 |
NM_001024630.4(RUNX2):c.216G>C (p.Glu72Asp) |
NA |
not provided | -1 |
Uncertain significance |
6:45390490 |
NM_001024630.4(RUNX2):c.231_260dup (p.Ala80_Ala89dup) |
rs606231174 |
Cleidocranial dysplasia, forme fruste, with brachydactyly | 2 |
Pathogenic |
6:45390490 |
NM_001024630.4(RUNX2):c.231_260dup (p.Ala80_Ala89dup) |
rs606231174 |
Cleidocranial dysplasia, forme fruste, with brachydactyly | 2 |
Pathogenic |
6:45390490 |
NM_001024630.4(RUNX2):c.219G>T (p.Ala73=) |
rs1022449962 |
not provided | 2 |
Likely benign |
6:45390490 |
NM_001024630.4(RUNX2):c.219G>A (p.Ala73=) |
NA |
not provided | 2 |
Likely benign |
6:45390492 |
NM_001024630.4(RUNX2):c.221C>A (p.Ala74Glu) |
NA |
not provided | 4 |
Uncertain significance |
6:45390493 |
NM_001024630.4(RUNX2):c.222G>C (p.Ala74=) |
NA |
not provided | 5 |
Likely benign |
6:45390493 |
NM_001024630.4(RUNX2):c.239_240insAGCGGCGGCTGCGGCGGC (p.Ala84_Ala89dup) |
NA |
not provided | 5 |
Uncertain significance |
6:45390493 |
NM_001024630.4(RUNX2):c.222G>A (p.Ala74=) |
NA |
not provided | 5 |
Likely benign |
6:45390496 |
NM_001024630.4(RUNX2):c.225G>A (p.Ala75=) |
NA |
not provided | 8 |
Likely benign |
6:45390497 |
NM_001024630.4(RUNX2):c.231_236del (p.Ala88_Ala89del) |
NA |
not provided | 9 |
Uncertain significance |
6:45390499 |
NM_001024630.4(RUNX2):c.228G>A (p.Ala76=) |
NA |
not provided | 11 |
Likely benign |
6:45390501 |
NM_001024630.4(RUNX2):c.230_231del (p.Ala77fs) |
NA |
not provided | 13 |
Pathogenic |
6:45390502 |
NM_001024630.4(RUNX2):c.234GGC[6] (p.Ala89dup) |
NA |
not provided | 14 |
Uncertain significance |
6:45390503 |
NM_001024630.4(RUNX2):c.234GGC[2] (p.Ala87_Ala89del) |
NA |
not provided | 15 |
Uncertain significance |
6:45390504 |
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) |
rs1338909353 |
Cleidocranial dysostosis|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome | 16 |
Uncertain significance |
6:45390505 |
NM_001024630.4(RUNX2):c.234G>A (p.Ala78=) |
rs886061493 |
Cleidocranial dysostosis | 17 |
Likely benign |
6:45390505 |
NM_001024630.4(RUNX2):c.246_260dup (p.Ala85_Ala89dup) |
NA |
not provided | 17 |
Uncertain significance |
6:45390511 |
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) |
rs6921145 |
not specified|Cleidocranial dysostosis|not provided | 23 |
Benign |
6:45390511 |
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) |
rs6921145 |
not specified|Cleidocranial dysostosis|not provided | 23 |
Benign |
6:45390514 |
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) |
rs11498192 |
not specified|not provided|Cleidocranial dysostosis | 26 |
Benign/Likely benign |
6:45390514 |
NM_001024630.4(RUNX2):c.249_254dup (p.Ala88_Ala89dup) |
NA |
not provided | 26 |
Uncertain significance |
6:45390525 |
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) |
rs372138746 |
not provided|not specified | 37 |
Benign/Likely benign |
6:45390541 |
NM_001024630.4(RUNX2):c.274dup (p.Arg92fs) |
NA |
not provided | 53 |
Pathogenic |
6:45390542 |
NM_001024630.4(RUNX2):c.274del (p.Arg92fs) |
NA |
not provided | 54 |
Pathogenic |
6:45390546 |
NM_001024630.4(RUNX2):c.275G>A (p.Arg92Gln) |
rs772777645 |
not provided | 58 |
Uncertain significance |
6:45390547 |
NM_001024630.4(RUNX2):c.276G>A (p.Arg92=) |
NA |
not provided | 59 |
Likely benign |
6:45390549 |
NM_001024630.4(RUNX2):c.278T>A (p.Leu93Ter) |
rs1798255831 |
not provided | 61 |
Pathogenic |
6:45390562 |
NM_001024630.4(RUNX2):c.291C>A (p.His97Gln) |
NA |
not provided | 74 |
Uncertain significance |
6:45390569 |
NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser) |
rs754711247 |
Cleidocranial dysostosis | 81 |
Uncertain significance |
6:45390574 |
NM_001024630.4(RUNX2):c.303C>A (p.Thr101=) |
NA |
not provided | 86 |
Likely benign |
6:45390575 |
NM_001024630.4(RUNX2):c.304A>G (p.Met102Val) |
rs376849024 |
not provided | 87 |
Uncertain significance |
6:45390598 |
NM_001024630.4(RUNX2):c.329del (p.Pro110fs) |
rs1798259380 |
not provided | 110 |
Pathogenic |
6:45390607 |
NM_001024630.4(RUNX2):c.336A>G (p.Glu112=) |
NA |
not provided | 119 |
Benign |
6:45390611 |
NM_001024630.4(RUNX2):c.340G>A (p.Val114Ile) |
NA |
Craniosynostosis syndrome | 123 |
Uncertain significance |
6:45390639 |
NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr) |
rs1582095105 |
Cleidocranial dysostosis | 151 |
Uncertain significance |
6:45390642 |
NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter) |
rs1582095109 |
Cleidocranial dysostosis | 154 |
Pathogenic |
6:45390642 |
NM_001024630.4(RUNX2):c.371C>G (p.Ser124Trp) |
rs1582095109 |
not provided | 154 |
Uncertain significance |
6:45390648 |
NM_001024630.4(RUNX2):c.377T>A (p.Leu126Gln) |
NA |
not provided | 160 |
Uncertain significance |
6:45390651 |
NM_001024630.4(RUNX2):c.380C>G (p.Pro127Arg) |
NA |
not provided | 163 |
Uncertain significance |
6:45390659 |
NM_001024630.4(RUNX2):c.388T>C (p.Trp130Arg) |
NA |
not provided | 171 |
Uncertain significance |
6:45390675 |
NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs) |
NA |
Cleidocranial dysostosis | 187 |
Pathogenic |
6:45390678 |
NM_001024630.4(RUNX2):c.407T>C (p.Leu136Pro) |
NA |
not provided | 190 |
Pathogenic |
6:45390682 |
NM_001024630.4(RUNX2):c.411C>A (p.Pro137=) |
NA |
not provided | 194 |
Likely benign |
6:45390691 |
NM_001024630.4(RUNX2):c.422dup (p.Val142fs) |
NA |
not provided | 203 |
Pathogenic |
6:45390692 |
NM_001024630.4(RUNX2):c.423+1_423+5del |
NA |
not provided | 204 |
Pathogenic |
6:45390696 |
NM_001024630.4(RUNX2):c.423+2del |
rs1798262516 |
Cleidocranial dysostosis | 208 |
Likely pathogenic |
6:45390696 |
NM_001024630.4(RUNX2):c.423+2T>G |
NA |
not provided | 208 |
Pathogenic |
6:45390711 |
NM_001024630.4(RUNX2):c.423+17C>T |
NA |
not provided | 223 |
Benign |
6:45390712 |
NM_001024630.4(RUNX2):c.423+18C>T |
NA |
not provided | 224 |
Likely benign |
6:45390733 |
NM_001024630.4(RUNX2):c.423+39G>C |
rs3749864 |
not specified|not provided | 245 |
Benign |
6:45390838 |
NM_001024630.4(RUNX2):c.423+146_423+147dup |
NA |
not provided | 350 |
Benign |
6:45390949 |
NM_001024630.4(RUNX2):c.423+255G>C |
NA |
not provided | 461 |
Benign |
6:45390962 |
NM_001024630.4(RUNX2):c.423+268C>T |
NA |
not provided | 474 |
Benign |
6:45390973 |
NM_001024630.4(RUNX2):c.423+279C>T |
NA |
not provided | 485 |
Likely benign |
6:45392982 |
GRCh37/hg19 6p21.1(chr6:45392982-45402917)x3 |
NA |
not provided | 2494 |
Benign |
6:45394329 |
GRCh37/hg19 6p21.1(chr6:45394329-45396544)x4 |
NA |
not provided | 3841 |
Benign |
6:45399580 |
NC_000006.11:g.(?_45399580)_(45399776_?)del |
NA |
not provided | 9092 |
Pathogenic |
6:45399580 |
NC_000006.11:g.(?_45399580)_(45405808_?)del |
NA |
not provided | 9092 |
Pathogenic |
6:45399598 |
NM_001024630.4(RUNX2):c.424-2A>G |
NA |
not provided | 9110 |
Likely pathogenic |
6:45399619 |
NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs) |
rs1798551566 |
Cleidocranial dysostosis | 9131 |
Pathogenic |
6:45399635 |
NM_001024630.4(RUNX2):c.459G>A (p.Val153=) |
NA |
not provided | 9147 |
Likely benign |
6:45399652 |
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) |
rs864621970 |
Cleidocranial dysostosis | 9164 |
Pathogenic |
6:45399652 |
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) |
rs864621970 |
Cleidocranial dysostosis | 9164 |
Pathogenic |
6:45399656 |
NM_001024630.4(RUNX2):c.480C>T (p.Asn160=) |
NA |
not provided | 9168 |
Likely benign |
6:45399657 |
NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn) |
rs1477047335 |
Cleidocranial dysostosis|not provided | 9169 |
Uncertain significance |
6:45399657 |
NM_001024630.4(RUNX2):c.483_485del (p.Asp161del) |
NA |
Cleidocranial dysostosis | 9169 |
Likely pathogenic |
6:45399681 |
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp) |
rs1203066173 |
Cleidocranial dysostosis|not provided | 9193 |
Likely pathogenic |
6:45399682 |
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro) |
rs104893995 |
Cleidocranial dysostosis | 9194 |
Pathogenic |
6:45399682 |
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro) |
rs104893995 |
Cleidocranial dysostosis | 9194 |
Pathogenic |
6:45399682 |
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) |
NA |
Cleidocranial dysostosis | 9194 |
Pathogenic |
6:45399691 |
NM_001024630.4(RUNX2):c.516dup (p.Ala173fs) |
NA |
not provided | 9203 |
Pathogenic |
6:45399699 |
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) |
rs201647225 |
Cleidocranial dysostosis | 9211 |
Conflicting interpretations of pathogenicity |
6:45399700 |
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) |
rs104893989 |
Cleidocranial dysostosis | 9212 |
Pathogenic |
6:45399700 |
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) |
rs104893989 |
Cleidocranial dysostosis | 9212 |
Pathogenic |
6:45399707 |
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys) |
rs147359883 |
not provided | 9219 |
Conflicting interpretations of pathogenicity |
6:45399715 |
NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu) |
NA |
Cleidocranial dysostosis | 9227 |
Pathogenic |
6:45399725 |
NM_001024630.4(RUNX2):c.549C>T (p.Asn183=) |
rs115974315 |
not provided | 9237 |
Benign |
6:45399744 |
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp) |
NA |
not provided|not specified | 9256 |
Pathogenic |
6:45399745 |
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln) |
rs1057521068 |
not provided|Cleidocranial dysostosis | 9257 |
Pathogenic/Likely pathogenic |
6:45399748 |
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn) |
rs104893990 |
Cleidocranial dysostosis | 9260 |
Pathogenic |
6:45399748 |
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn) |
rs104893990 |
Cleidocranial dysostosis | 9260 |
Pathogenic |
6:45399753 |
NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter) |
rs1582105417 |
Cleidocranial dysostosis|not provided | 9265 |
Pathogenic |
6:45399754 |
NM_001024630.4(RUNX2):c.578G>A (p.Arg193Gln) |
NA |
not provided | 9266 |
Uncertain significance |
6:45399768 |
NM_001024630.4(RUNX2):c.580+12A>G |
NA |
not provided | 9280 |
Benign |
6:45405590 |
NM_001024630.4(RUNX2):c.581-94A>T |
NA |
not provided | 15102 |
Benign |
6:45405664 |
NC_000006.11:g.(?_45405664)_(45480164_?)del |
NA |
not provided | 15176 |
Pathogenic |
6:45405675 |
NM_001024630.4(RUNX2):c.581-9T>C |
rs374414428 |
Cleidocranial dysostosis|not provided | 15187 |
Benign/Likely benign |
6:45405679 |
NM_001024630.4(RUNX2):c.581-5T>C |
NA |
not provided | 15191 |
Likely benign |
6:45405683 |
NM_001024630.4(RUNX2):c.581-1G>A |
NA |
Cleidocranial dysostosis | 15195 |
Pathogenic |
6:45405689 |
NM_001024630.4(RUNX2):c.586A>G (p.Ser196Gly) |
NA |
not provided | 15201 |
Uncertain significance |
6:45405697 |
NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer) |
rs1798733144 |
Cleidocranial dysostosis | 15209 |
Pathogenic |
6:45405700 |
NM_001024630.4(RUNX2):c.597G>T (p.Leu199Phe) |
NA |
not provided | 15212 |
Likely pathogenic |
6:45405701 |
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) |
rs104893993 |
Cleidocranial dysostosis|Cleidocranial dysplasia, forme fruste, dental anomalies only | 15213 |
Pathogenic |
6:45405701 |
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) |
rs104893993 |
Cleidocranial dysostosis|Cleidocranial dysplasia, forme fruste, dental anomalies only | 15213 |
Pathogenic |
6:45405706 |
NM_001024630.4(RUNX2):c.604del (p.Thr202fs) |
NA |
not provided | 15218 |
Pathogenic |
6:45405710 |
NM_001024630.4(RUNX2):c.607G>A (p.Val203Ile) |
NA |
not provided | 15222 |
Uncertain significance |
6:45405716 |
NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala) |
rs762910660 |
Cleidocranial dysostosis | 15228 |
Uncertain significance |
6:45405718 |
NM_001024630.4(RUNX2):c.617del (p.Asn206fs) |
NA |
not provided | 15230 |
Pathogenic |
6:45405734 |
NM_001024630.4(RUNX2):c.631G>C (p.Ala211Pro) |
NA |
not provided | 15246 |
Uncertain significance |
6:45405737 |
NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs) |
rs1798735440 |
Cleidocranial dysostosis | 15249 |
Pathogenic |
6:45405750 |
NM_001024630.4(RUNX2):c.647C>A (p.Ala216Glu) |
rs1798735983 |
not provided | 15262 |
Uncertain significance |
6:45405753 |
NM_001024630.4(RUNX2):c.650T>G (p.Ile217Ser) |
NA |
not provided | 15265 |
Uncertain significance |
6:45405755 |
NM_001024630.4(RUNX2):c.652A>G (p.Lys218Glu) |
NA |
not provided | 15267 |
Pathogenic |
6:45405762 |
NM_001024630.4(RUNX2):c.659C>T (p.Thr220Ile) |
NA |
not provided | 15274 |
Pathogenic |
6:45405763 |
NM_001024630.4(RUNX2):c.660A>G (p.Thr220=) |
NA |
not provided | 15275 |
Likely benign |
6:45405766 |
NM_001024630.4(RUNX2):c.663A>G (p.Val221=) |
rs115763613 |
Cleidocranial dysostosis|not provided | 15278 |
Benign/Likely benign |
6:45405767 |
NM_001024630.4(RUNX2):c.664G>C (p.Asp222His) |
rs1798736907 |
not provided | 15279 |
Likely pathogenic |
6:45405768 |
NM_001024630.4(RUNX2):c.665A>G (p.Asp222Gly) |
NA |
not provided | 15280 |
Likely pathogenic |
6:45405776 |
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) |
rs104893992 |
Cleidocranial dysostosis|not provided | 15288 |
Pathogenic |
6:45405776 |
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) |
rs104893992 |
Cleidocranial dysostosis|not provided | 15288 |
Pathogenic |
6:45405777 |
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) |
rs104893991 |
Cleidocranial dysostosis|not provided | 15289 |
Pathogenic |
6:45405777 |
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) |
rs104893991 |
Cleidocranial dysostosis|not provided | 15289 |
Pathogenic |
6:45405777 |
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu) |
NA |
Cleidocranial dysostosis | 15289 |
not provided |
6:45405793 |
NM_001024630.4(RUNX2):c.685+5G>A |
rs1798738030 |
Cleidocranial dysostosis | 15305 |
Uncertain significance |
6:45422617 |
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs) |
rs397515538 |
Cleidocranial dysostosis | 32129 |
not provided |
6:45422694 |
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) |
rs774172072 |
not specified|not provided | 32206 |
Conflicting interpretations of pathogenicity |
6:45422723 |
NM_001024630.4(RUNX2):c.189_203delinsACAGCAGCAGCAGCAGCAGCAACAGCAGCCG (p.Glu72fs) |
rs730880313 |
Cleidocranial dysostosis | 32235 |
Pathogenic |
6:45422753 |
NM_001024630.4(RUNX2):c.231_260dup (p.Ala80_Ala89dup) |
rs606231174 |
Cleidocranial dysplasia, forme fruste, with brachydactyly | 32265 |
Pathogenic |
6:45422774 |
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) |
rs6921145 |
not specified|Cleidocranial dysostosis|not provided | 32286 |
Benign |
6:45431915 |
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp) |
rs864621970 |
Cleidocranial dysostosis | 41427 |
Pathogenic |
6:45431945 |
NM_001024630.4(RUNX2):c.506G>C (p.Arg169Pro) |
rs104893995 |
Cleidocranial dysostosis | 41457 |
Pathogenic |
6:45431963 |
NM_001024630.4(RUNX2):c.524T>G (p.Met175Arg) |
rs104893989 |
Cleidocranial dysostosis | 41475 |
Pathogenic |
6:45432011 |
NM_001024630.4(RUNX2):c.572G>A (p.Ser191Asn) |
rs104893990 |
Cleidocranial dysostosis | 41523 |
Pathogenic |
6:45437964 |
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala) |
rs104893993 |
Cleidocranial dysostosis|Cleidocranial dysplasia, forme fruste, dental anomalies only | 47476 |
Pathogenic |
6:45438039 |
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp) |
rs104893992 |
Cleidocranial dysostosis|not provided | 47551 |
Pathogenic |
6:45438040 |
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) |
rs104893991 |
Cleidocranial dysostosis|not provided | 47552 |
Pathogenic |