ClinVar for MedGen (Select 310065) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2691855	NM_024529.5(CDC73):c.131+1del	CDC73	Deletion (splice donor variant)	Hyperparathyroidism 2 with jaw tumors	GPathogenic
Select item 1704640	NM_024529.5(CDC73):c.584del (p.Ser195fs)	CDC73 (S195fs)	Deletion (frameshift variant)	Hyperparathyroidism 2 with jaw tumors	GLikely pathogenic
Select item 1659259	NM_024529.5(CDC73):c.829-5dup	CDC73	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +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 1449272	NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)	CDC73 (R399*)	Single nucleotide variant (nonsense)	Hyperparathyroidism 2 with jaw tumors +1 more	GPathogenic/Likely pathogenic
Select item 1231125	NM_024529.5(CDC73):c.237+28T>C	CDC73	Single nucleotide variant (intron variant)	Hyperparathyroidism 2 with jaw tumors +1 more	GBenign
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 1076788	NM_024529.5(CDC73):c.687_688del (p.Arg229fs)	CDC73 (R229fs)	Microsatellite (frameshift variant)	Hyperparathyroidism 2 with jaw tumors +1 more	GPathogenic
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)	Hereditary cancer-predisposing syndrome +3 more	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 947349	NM_024529.5(CDC73):c.731A>G (p.Asn244Ser)	CDC73 (N244S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +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 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)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 855632	NM_024529.5(CDC73):c.8A>G (p.Asp3Gly)	CDC73 (D3G)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GUncertain significance
Select item 848147	NM_024529.5(CDC73):c.364A>G (p.Thr122Ala)	CDC73 (T122A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 844706	NM_024529.5(CDC73):c.450A>G (p.Lys150=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 658835	NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)	CDC73 (R222*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 653129	NM_024529.5(CDC73):c.138A>T (p.Gly46=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GConflicting classifications of pathogenicity
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)	Hereditary cancer-predisposing syndrome +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 +2 more	GUncertain significance
Select item 581596	NM_024529.5(CDC73):c.876A>G (p.Arg292=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 576255	NM_024529.5(CDC73):c.380C>T (p.Ala127Val)	CDC73 (A127V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 531645	NM_024529.5(CDC73):c.648T>A (p.Ala216=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 515469	NM_024529.5(CDC73):c.534A>G (p.Ser178=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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)	Hereditary cancer-predisposing syndrome +4 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)	Parathyroid carcinoma +3 more	GLikely benign
Select item 462752	NM_024529.5(CDC73):c.1551A>G (p.Thr517=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 462742	NM_024529.5(CDC73):c.1236G>A (p.Met412Ile)	CDC73 (M412I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412634	NM_024529.5(CDC73):c.333C>T (p.Ser111=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 412627	NM_024529.5(CDC73):c.873C>T (p.Asn291=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 2 with jaw tumors +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)	Parathyroid carcinoma +3 more	GUncertain significance
Select item 403895	NM_024529.5(CDC73):c.1081A>G (p.Ile361Val)	CDC73 (I361V)	Single nucleotide variant (missense variant)	Hyperparathyroidism 1 +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	GUncertain significance
Select item 403881	NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp)	CDC73 (R513W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 294472	NM_024529.5(CDC73):c.*3808TTG[1]	CDC73	Microsatellite (3 prime UTR variant)	Isolated Hyperparathyroidism +2 more	GLikely benign
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
Select item 294470	NM_024529.5(CDC73):c.*3786T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GBenign/Likely benign
Select item 294469	NM_024529.5(CDC73):c.*3786T>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GBenign
Select item 294468	NM_024529.5(CDC73):c.*3785A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Isolated Hyperparathyroidism +2 more	GUncertain significance
Select item 294467	NM_024529.5(CDC73):c.*3714T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294466	NM_024529.5(CDC73):c.*3641G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GLikely benign
Select item 294465	NM_024529.5(CDC73):c.*3542A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294464	NM_024529.5(CDC73):c.*3524A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GBenign/Likely benign
Select item 294463	NM_024529.5(CDC73):c.*3507G>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GBenign
Select item 294462	NM_024529.5(CDC73):c.*3419T>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294461	NM_024529.5(CDC73):c.3409_3410del	CDC73	Deletion (3 prime UTR variant)	Isolated Hyperparathyroidism +2 more	GUncertain significance
Select item 294460	NM_024529.5(CDC73):c.*3266A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294459	NM_024529.5(CDC73):c.*3257A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294458	NM_024529.5(CDC73):c.*3086C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294457	NM_024529.5(CDC73):c.*2982T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294456	NM_024529.5(CDC73):c.*2963A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294455	NM_024529.5(CDC73):c.*2962T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294454	NM_024529.5(CDC73):c.*2950A>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GBenign
Select item 294453	NM_024529.5(CDC73):c.*2677G>A	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GBenign/Likely benign
Select item 294452	NM_024529.5(CDC73):c.*2651T>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294451	NM_024529.5(CDC73):c.*2455C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GUncertain significance
Select item 294450	NM_024529.5(CDC73):c.*2446C>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294449	NM_024529.5(CDC73):c.*2427T>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GBenign/Likely benign
Select item 294448	NM_024529.5(CDC73):c.*2420A>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294447	NM_024529.5(CDC73):c.*2304T>G	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 1 +2 more	GBenign/Likely benign
Select item 294446	NM_024529.5(CDC73):c.*2131A>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GUncertain significance
Select item 294445	NM_024529.5(CDC73):c.*2085G>C	CDC73	Single nucleotide variant (3 prime UTR variant)	Parathyroid carcinoma +2 more	GBenign/Likely benign
Select item 294444	NM_024529.5(CDC73):c.*2043A>T	CDC73	Single nucleotide variant (3 prime UTR variant)	Hyperparathyroidism 2 with jaw tumors +2 more	GUncertain significance

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