ClinVar for MedGen (Select 333554) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241018	NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)	CDC73 (I237T)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1	GUncertain significance
Select item 3241017	NM_024529.5(CDC73):c.762A>C (p.Gln254His)	CDC73 (Q254H)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1	GUncertain significance
Select item 3241016	NM_024529.5(CDC73):c.388G>A (p.Glu130Lys)	CDC73 (E130K)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1	GUncertain significance
Select item 3241015	NM_024529.5(CDC73):c.520_523del (p.Ser174fs)	CDC73 (S174fs)	Deletion (frameshift variant)	Hyperparathyroidism 1	GPathogenic
Select item 2691860	NM_024529.5(CDC73):c.192TAA[1] (p.Asn66del)	CDC73 (N66del)	Microsatellite (inframe deletion)	Hyperparathyroidism 1 +1 more	GUncertain significance
Select item 2680424	NM_024529.5(CDC73):c.424-12G>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +1 more	GConflicting classifications of pathogenicity
Select item 2680422	NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)	CDC73 (Q398K)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 2680420	NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)	CDC73 (F250L)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1	GUncertain significance
Select item 2585772	NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)	CDC73 (R229*)	Single nucleotide variant (nonsense)	Hyperparathyroidism 1 +1 more	GPathogenic
Select item 1951182	NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)	CDC73 (E400D)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1912898	NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)	CDC73 (V496I)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1798502	NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)	CDC73 (G100S)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +1 more	GUncertain significance
Select item 1794894	NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)	CDC73 (A337T)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1743172	NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)	CDC73 (K16R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1731906	NM_024529.5(CDC73):c.348A>G (p.Ile116Met)	CDC73 (I116M)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1698842	NM_024529.5(CDC73):c.69C>G (p.Asp23Glu)	CDC73 (D23E)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1	GUncertain significance
Select item 1659259	NM_024529.5(CDC73):c.829-5dup	CDC73	Duplication (intron variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GBenign/Likely benign
Select item 1658427	NM_024529.5(CDC73):c.730-14C>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 1635774	NM_024529.5(CDC73):c.132-17T>G	CDC73	Single nucleotide variant (intron variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GLikely benign
Select item 1626823	NM_024529.5(CDC73):c.908-6del	CDC73	Deletion (intron variant)	Hyperparathyroidism 1 +2 more	GLikely benign
Select item 1607766	NM_024529.5(CDC73):c.370+17A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 1587133	NM_024529.5(CDC73):c.1559+20A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 1489857	NM_024529.5(CDC73):c.818C>T (p.Ala273Val)	CDC73 (A273V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1457825	NM_024529.5(CDC73):c.626_629del (p.Lys209fs)	CDC73 (K209fs)	Deletion (frameshift variant)	Hyperparathyroidism 1 +1 more	GPathogenic
Select item 1357038	NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile)	CDC73 (T368I)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 1194275	NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)	CDC73 (R268*)	Single nucleotide variant (nonsense)	Parathyroid carcinoma +3 more	GPathogenic/Likely pathogenic
Select item 1150036	NM_024529.5(CDC73):c.519G>A (p.Leu173=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 1044459	NM_024529.5(CDC73):c.314C>T (p.Ser105Leu)	CDC73 (S105L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1035493	NM_024529.5(CDC73):c.1421A>G (p.Lys474Arg)	CDC73 (K474R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 1031373	NM_024529.5(CDC73):c.973-23487G>A	B3GALT2, CDC73 (R419C)	Single nucleotide variant (missense variant +1 more)	Hyperparathyroidism 1	GUncertain significance
Select item 1026535	NM_024529.5(CDC73):c.811C>G (p.Pro271Ala)	CDC73 (P271A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 1025146	NM_024529.5(CDC73):c.823C>T (p.Pro275Ser)	CDC73 (P275S)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 965501	NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser)	CDC73 (P335S)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +1 more	GUncertain significance
Select item 965212	NM_024529.5(CDC73):c.1255A>G (p.Ile419Val)	CDC73 (I419V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 950658	NM_024529.5(CDC73):c.754A>G (p.Ile252Val)	CDC73 (I252V)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 950136	NM_024529.5(CDC73):c.842G>A (p.Arg281His)	CDC73 (R281H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 947349	NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)	CDC73 (N244S)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 876699	NM_024529.5(CDC73):c.*2801A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 876609	NM_024529.5(CDC73):c.*1660A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 876559	NM_024529.5(CDC73):c.*1292C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 876517	NM_024529.5(CDC73):c.*948C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 876378	NM_024529.5(CDC73):c.-167A>G	CDC73	Single nucleotide variant (5 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 875803	NM_024529.5(CDC73):c.*3887G>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 875802	NM_024529.5(CDC73):c.*3875A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 875756	NM_024529.5(CDC73):c.*3342G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 875612	NM_024529.5(CDC73):c.*1644C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 875611	NM_024529.5(CDC73):c.*1535A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 875556	NM_024529.5(CDC73):c.*1132G>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 875503	NM_024529.5(CDC73):c.*683G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 875447	NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)	CDC73 (V442I)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GUncertain significance
Select item 874870	NM_024529.5(CDC73):c.*3783C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 874776	NM_024529.5(CDC73):c.*2639C>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 874775	NM_024529.5(CDC73):c.*2625A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 874579	NM_024529.5(CDC73):c.*298A>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 874426	NM_024529.5(CDC73):c.-135C>T	CDC73	Single nucleotide variant (5 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 873925	NM_024529.5(CDC73):c.*3695C>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 873869	NM_024529.5(CDC73):c.*3063G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GBenign/Likely benign
Select item 873765	NM_024529.5(CDC73):c.*1821G>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 873764	NM_024529.5(CDC73):c.*1789G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 873696	NM_024529.5(CDC73):c.*1442C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 873695	NM_024529.5(CDC73):c.*1296C>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 873578	NM_024529.5(CDC73):c.*244T>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 864409	NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn)	CDC73 (D379N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 860535	NM_024529.5(CDC73):c.728A>T (p.Lys243Met)	CDC73 (K243M)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance
Select item 858341	NM_024529.5(CDC73):c.709A>G (p.Ile237Val)	CDC73 (I237V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 855632	NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)	CDC73 (D3G)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +3 more	GUncertain significance
Select item 848147	NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)	CDC73 (T122A)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GUncertain significance
Select item 846304	NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)	CDC73 (R91*)	Single nucleotide variant (nonsense)	Hyperparathyroidism 1 +2 more	GPathogenic
Select item 844706	NM_024529.5(CDC73):c.450A>G (p.Lys150=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 822485	NM_024529.5(CDC73):c.847A>G (p.Lys283Glu)	CDC73 (K283E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 658835	NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)	CDC73 (R222*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 653129	NM_024529.5(CDC73):c.138A>T (p.Gly46=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 651582	NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala)	CDC73 (T417A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 651407	NM_024529.5(CDC73):c.1248C>T (p.Gly416=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 649933	NM_024529.5(CDC73):c.1066+5G>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 648869	NM_024529.5(CDC73):c.320G>A (p.Ser107Asn)	CDC73 (S107N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 640791	NM_024529.5(CDC73):c.1575T>G (p.His525Gln)	CDC73 (H525Q)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 576255	NM_024529.5(CDC73):c.380C>T (p.Ala127Val)	CDC73 (A127V)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 531646	NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser)	CDC73 (P462S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 531645	NM_024529.5(CDC73):c.648T>A (p.Ala216=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 515469	NM_024529.5(CDC73):c.534A>G (p.Ser178=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 2 with jaw tumors +4 more	GConflicting classifications of pathogenicity
Select item 462770	NM_024529.5(CDC73):c.844A>G (p.Thr282Ala)	CDC73 (T282A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +4 more	GUncertain significance
Select item 462767	NM_024529.5(CDC73):c.803G>A (p.Arg268Gln)	CDC73 (R268Q)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 462757	NM_024529.5(CDC73):c.315G>A (p.Ser105=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 462756	NM_024529.5(CDC73):c.280C>T (p.Leu94=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 462752	NM_024529.5(CDC73):c.1551A>G (p.Thr517=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 462751	NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln)	CDC73 (R513Q)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 462742	NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)	CDC73 (M412I)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +4 more	GConflicting classifications of pathogenicity
Select item 412634	NM_024529.5(CDC73):c.333C>T (p.Ser111=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GLikely benign
Select item 412627	NM_024529.5(CDC73):c.873C>T (p.Asn291=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GBenign/Likely benign
Select item 412622	NM_024529.5(CDC73):c.1011C>T (p.Ala337=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 403896	NM_024529.5(CDC73):c.1018G>A (p.Val340Ile)	CDC73 (V340I)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +3 more	GUncertain significance
Select item 403895	NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)	CDC73 (I361V)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +4 more	GConflicting classifications of pathogenicity
Select item 403894	NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)	CDC73 (R330Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 403889	NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu)	CDC73 (D379E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 403881	NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)	CDC73 (R513W)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 403879	NM_024529.5(CDC73):c.680G>A (p.Arg227Lys)	CDC73 (R227K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 375573	NM_024529.5(CDC73):c.132-2A>G	CDC73	Single nucleotide variant (splice acceptor variant)	Hyperparathyroidism 1	GLikely pathogenic
Select item 294471	NM_024529.5(CDC73):c.*3791T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance

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