ClinVar for MedGen (Select 3486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578418	NM_001024630.4(RUNX2):c.571A>G (p.Ser191Gly)	RUNX2 (S177G +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 2573103	NM_001024630.4(RUNX2):c.300_316del (p.Thr101fs)	RUNX2 (T101fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 2572649	NM_001024630.4(RUNX2):c.173_227del (p.Gln58fs)	LOC109611589, RUNX2 (Q44fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 2444284	NM_001024630.4(RUNX2):c.1127del (p.Phe376fs)	RUNX2 (F340fs +3 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 1712334	NM_001024630.4(RUNX2):c.424-1G>C	RUNX2	Single nucleotide variant (splice acceptor variant)	Cleidocranial dysostosis	GPathogenic
Select item 1708145	NM_001024630.4(RUNX2):c.360C>A (p.Asn120Lys)	RUNX2 (N106K +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GPathogenic
Select item 1705657	NM_001024630.4(RUNX2):c.400A>G (p.Lys134Glu)	RUNX2 (K120E +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 1698843	NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln)	RUNX2 (R155Q +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GPathogenic
Select item 1698804	NM_001024630.4(RUNX2):c.884del (p.Pro295fs)	RUNX2 (P281fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 1691336	NM_001024630.4(RUNX2):c.407_411del (p.Leu136fs)	RUNX2 (L122fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 1686134	NM_001024630.4(RUNX2):c.581-1G>A	RUNX2	Single nucleotide variant (splice acceptor variant)	Cleidocranial dysostosis	GPathogenic
Select item 1339339	NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu)	RUNX2 (R211L +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	Gnot provided
Select item 1328236	NM_001024630.4(RUNX2):c.935C>T (p.Ser312Phe)	RUNX2 (S298F +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 1185699	NM_001024630.4(RUNX2):c.739del (p.Ser247fs)	RUNX2 (S233fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 1185698	NM_001024630.4(RUNX2):c.901C>T (p.Gln301Ter)	RUNX2 (Q287* +1 more)	Single nucleotide variant (nonsense)	Cleidocranial dysostosis	GPathogenic
Select item 1185697	NM_001024630.4(RUNX2):c.1081C>T (p.Gln361Ter)	RUNX2 (Q347* +1 more)	Single nucleotide variant (nonsense +1 more)	Cleidocranial dysostosis	GPathogenic
Select item 1175725	NM_001024630.4(RUNX2):c.539C>A (p.Ala180Glu)	RUNX2 (A166E +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GPathogenic
Select item 1071563	NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)	RUNX2 (R176W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 1032545	NM_001024630.4(RUNX2):c.863C>T (p.Pro288Leu)	RUNX2 (P288L +1 more)	Single nucleotide variant (missense variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GUncertain significance
Select item 978698	NM_001024630.4(RUNX2):c.636dup (p.Tyr213fs)	RUNX2 (Y199fs +1 more)	Duplication (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 978697	NM_001024630.4(RUNX2):c.423+2del	RUNX2	Deletion (splice donor variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 978473	NM_001024630.4(RUNX2):c.1191del (p.Phe398fs)	RUNX2 (F362fs +3 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 976311	NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter)	LOC109611589, RUNX2 (Q57* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 929063	NM_001024630.4(RUNX2):c.90del (p.Ser31fs)	RUNX2 (S17fs +1 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 916708	NM_001024630.4(RUNX2):c.594_595delinsG (p.Thr198_Leu199insTer)	RUNX2	Indel (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 916707	NM_001024630.4(RUNX2):c.29dup (p.Thr11fs)	RUNX2, SUPT3H (T11fs)	Duplication (frameshift variant +2 more)	Cleidocranial dysostosis	GPathogenic
Select item 916706	NM_001024630.4(RUNX2):c.443_454delinsG (p.Val148fs)	RUNX2 (V148fs +1 more)	Indel (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 916705	NM_001024630.4(RUNX2):c.1281del (p.Gly428fs)	RUNX2 (G392fs +3 more)	Deletion (frameshift variant)	Cleidocranial dysostosis	GPathogenic
Select item 916704	NM_001024630.4(RUNX2):c.1088G>T (p.Gly363Val)	RUNX2 (G327V +3 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 916703	NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp)	RUNX2 (R155W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 916702	NM_001024630.4(RUNX2):c.203delinsCG (p.Gln68fs)	LOC109611589, RUNX2 (Q54fs +1 more)	Indel (frameshift variant)	Cleidocranial dysostosis	GLikely pathogenic
Select item 916701	NM_001024630.4(RUNX2):c.685+5G>A	RUNX2	Single nucleotide variant (intron variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911488	NM_001024630.4(RUNX2):c.*3111T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911487	NM_001024630.4(RUNX2):c.*3052C>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911486	NM_001024630.4(RUNX2):c.*3047A>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911425	NM_001024630.4(RUNX2):c.*1708T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911424	NM_001024630.4(RUNX2):c.*1696C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911423	NM_001024630.4(RUNX2):c.*1673G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911422	NM_001024630.4(RUNX2):c.*1648T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911358	NM_001024630.4(RUNX2):c.1204C>T (p.Pro402Ser)	RUNX2 (P366S +3 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911357	NM_001024630.4(RUNX2):c.938C>A (p.Pro313Gln)	RUNX2 (P299Q +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GUncertain significance
Select item 911356	NM_001024630.4(RUNX2):c.613A>G (p.Thr205Ala)	RUNX2 (T191A +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911225	NM_001024630.4(RUNX2):c.*1376C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911224	NM_001024630.4(RUNX2):c.*1174A>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911223	NM_001024630.4(RUNX2):c.*1133A>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 911156	NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)	RUNX2 (M161V +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GConflicting classifications of pathogenicity
Select item 911155	NM_001024630.4(RUNX2):c.481G>A (p.Asp161Asn)	RUNX2 (D147N +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GUncertain significance
Select item 911154	NM_001024630.4(RUNX2):c.298C>A (p.Arg100Ser)	RUNX2 (R100S +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 911153	NM_001024630.4(RUNX2):c.176A>G (p.Gln59Arg)	LOC109611589, RUNX2 (Q45R +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis +1 more	GConflicting classifications of pathogenicity
Select item 911152	NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu)	RUNX2 (V42L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 911151	NM_001024630.4(RUNX2):c.54T>C (p.Phe18=)	RUNX2, SUPT3H	Single nucleotide variant (synonymous variant +2 more)	Cleidocranial dysostosis	GUncertain significance
Select item 910268	NM_001024630.4(RUNX2):c.*2619A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 910267	NM_001024630.4(RUNX2):c.*2520T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 909293	NM_001024630.4(RUNX2):c.*2381C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 909292	NM_001024630.4(RUNX2):c.*2236T>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 909230	NM_001024630.4(RUNX2):c.*801G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 909229	NM_001024630.4(RUNX2):c.*549C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908517	NM_001024630.4(RUNX2):c.*3543T>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908516	NM_001024630.4(RUNX2):c.*3426C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 908450	NM_001024630.4(RUNX2):c.*1948G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908449	NM_001024630.4(RUNX2):c.*1917G>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908448	NM_001024630.4(RUNX2):c.*1876A>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908447	NM_001024630.4(RUNX2):c.*1816C>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908382	NM_001024630.4(RUNX2):c.*278G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis +1 more	GBenign/Likely benign
Select item 908381	NM_001024630.4(RUNX2):c.*262A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908380	NM_001024630.4(RUNX2):c.*155A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 908379	NM_001024630.4(RUNX2):c.*56A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 829868	NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)	RUNX2 (R179* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 828169	NM_001024630.4(RUNX2):c.368G>A (p.Cys123Tyr)	RUNX2 (C123Y +1 more)	Single nucleotide variant (missense variant)	Cleidocranial dysostosis	GUncertain significance
Select item 802220	NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter)	RUNX2 (S124* +1 more)	Single nucleotide variant (nonsense)	Cleidocranial dysostosis	GPathogenic
Select item 694720	NM_001024630.4(RUNX2):c.738C>T (p.Leu246=)	RUNX2	Single nucleotide variant (synonymous variant)	Cleidocranial dysostosis	GPathogenic
Select item 634441	NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu)	RUNX2 (P460L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 548612	NM_001024630.4(RUNX2):c.217del (p.Ala73fs)	LOC109611589, RUNX2 (A59fs +1 more)	Deletion (frameshift variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GConflicting classifications of pathogenicity
Select item 548611	NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs)	LOC109611589, RUNX2 (A79fs +1 more)	Insertion (frameshift variant)	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome +1 more	GUncertain significance
Select item 548496	NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup)	LOC109611589, RUNX2	Microsatellite (inframe_insertion)	Cleidocranial dysostosis +1 more	GUncertain significance
Select item 437934	Single allele	RUNX2	Single nucleotide variant	Cleidocranial dysostosis	GPathogenic
Select item 381546	NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln)	RUNX2 (R190Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 357148	NM_001024630.4(RUNX2):c.*3693A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357147	NM_001024630.4(RUNX2):c.*3642C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357146	NM_001024630.4(RUNX2):c.*3605C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357145	NM_001024630.4(RUNX2):c.*3592A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357144	NM_001024630.4(RUNX2):c.*3345G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357143	NM_001024630.4(RUNX2):c.*3329T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357142	NM_001024630.4(RUNX2):c.*3218A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357141	NM_001024630.4(RUNX2):c.*3160G>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357140	NM_001024630.4(RUNX2):c.*3159C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357139	NM_001024630.4(RUNX2):c.*3030C>T	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357138	NM_001024630.4(RUNX2):c.*2890A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357137	NM_001024630.4(RUNX2):c.*2880C>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357136	NM_001024630.4(RUNX2):c.*2845A>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis +1 more	GConflicting classifications of pathogenicity
Select item 357135	NM_001024630.4(RUNX2):c.*2826G>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357134	NM_001024630.4(RUNX2):c.*2786A>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357133	NM_001024630.4(RUNX2):c.*2712del	RUNX2	Deletion (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357132	NM_001024630.4(RUNX2):c.*2697del	RUNX2	Deletion (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357131	NM_001024630.4(RUNX2):c.*2689CTTT[2]	RUNX2	Microsatellite (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357130	NM_001024630.4(RUNX2):c.*2657T>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357129	NM_001024630.4(RUNX2):c.*2622G>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance
Select item 357128	NM_001024630.4(RUNX2):c.*2612C>G	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GBenign
Select item 357127	NM_001024630.4(RUNX2):c.*2479C>A	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GLikely benign
Select item 357126	NM_001024630.4(RUNX2):c.*2435T>C	RUNX2	Single nucleotide variant (3 prime UTR variant)	Cleidocranial dysostosis	GUncertain significance

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