ClinVar for MedGen (Select 146361) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382714	NM_024529.5(CDC73):c.127dup (p.Trp43fs)	CDC73 (W43fs)	Duplication (frameshift variant)	Hyperparathyroidism 1 +2 more	GLikely pathogenic
Select item 3247708	NC_000001.10:g.(?_193094317)_(193111354_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3247707	NC_000001.10:g.(?_193110960)_(193219842_?)dup	B3GALT2, CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 3247706	NC_000001.10:g.(?_193104511)_(193121584_?)dup	CDC73	Duplication	Parathyroid carcinoma	GLikely pathogenic
Select item 3247705	NC_000001.10:g.(?_193181185)_(193219842_?)dup	CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 3247704	NC_000001.10:g.(?_193172905)_(193219842_?)dup	CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 3247703	NC_000001.10:g.(?_193091331)_(193111206_?)dup	CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 3247701	NC_000001.10:g.(?_193091331)_(193099383_?)dup	CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 3247700	NC_000001.10:g.(?_193181185)_(193181617_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3247699	NC_000001.10:g.(?_193091331)_(193121594_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3247698	NC_000001.10:g.(?_193094232)_(193094357_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3247697	NC_000001.10:g.(?_193172915)_(193172992_?)del	CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 3020021	NM_024529.5(CDC73):c.132-7A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 3019200	NM_024529.5(CDC73):c.963A>G (p.Lys321=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3015579	NM_024529.5(CDC73):c.915A>G (p.Glu305=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 3014379	NM_024529.5(CDC73):c.807T>G (p.Pro269=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3011247	NM_024529.5(CDC73):c.907+2C>T	CDC73	Single nucleotide variant (splice donor variant)	Parathyroid carcinoma	GUncertain significance
Select item 3009647	NM_024529.5(CDC73):c.1317-17C>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 3007324	NM_024529.5(CDC73):c.1155-5C>T	CDC73	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3005321	NM_024529.5(CDC73):c.63G>T (p.Lys21Asn)	CDC73 (K21N)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 3002861	NM_024529.5(CDC73):c.1378C>T (p.Leu460Phe)	CDC73 (L460F)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 3001873	NM_024529.5(CDC73):c.1417+8T>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2997525	NM_024529.5(CDC73):c.907+19A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2996245	NM_024529.5(CDC73):c.1038A>G (p.Gln346=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2989268	NM_024529.5(CDC73):c.1021C>A (p.Pro341Thr)	CDC73 (P341T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2987662	NM_024529.5(CDC73):c.412C>G (p.Pro138Ala)	CDC73 (P138A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2986024	NM_024529.5(CDC73):c.369A>G (p.Gln123=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GUncertain significance
Select item 2983536	NM_024529.5(CDC73):c.1418-15C>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2981225	NM_024529.5(CDC73):c.1138C>T (p.Leu380Phe)	CDC73 (L380F)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2977058	NM_024529.5(CDC73):c.441C>T (p.Arg147=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2974256	NM_024529.5(CDC73):c.907+16C>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2973962	NM_024529.5(CDC73):c.307+15A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2973380	NM_024529.5(CDC73):c.972+19A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2965348	NM_024529.5(CDC73):c.1155-6dup	CDC73	Duplication (intron variant)	Parathyroid carcinoma	GBenign
Select item 2964770	NM_024529.5(CDC73):c.512+11T>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2963883	NM_024529.5(CDC73):c.1154+7A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2963196	NM_024529.5(CDC73):c.513-10T>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GUncertain significance
Select item 2920334	NM_024529.5(CDC73):c.114C>T (p.Thr38=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2917192	NM_024529.5(CDC73):c.374A>G (p.Lys125Arg)	CDC73 (K125R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2915844	NM_024529.5(CDC73):c.312A>T (p.Thr104=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2915842	NM_024529.5(CDC73):c.308-16C>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2914838	NM_024529.5(CDC73):c.102G>A (p.Lys34=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2905961	NM_024529.5(CDC73):c.1470G>C (p.Gln490His)	CDC73 (Q490H)	Single nucleotide variant (missense variant)	Parathyroid carcinoma +1 more	GUncertain significance
Select item 2895540	NM_024529.5(CDC73):c.1225A>C (p.Lys409Gln)	CDC73 (K409Q)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2895119	NM_024529.5(CDC73):c.513-18A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2893623	NM_024529.5(CDC73):c.973-20C>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2893201	NM_024529.5(CDC73):c.1100C>G (p.Ala367Gly)	CDC73 (A367G)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2888308	NM_024529.5(CDC73):c.132-16G>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2884150	NM_024529.5(CDC73):c.1528G>A (p.Val510Met)	CDC73 (V510M)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2883569	NM_024529.5(CDC73):c.1066+13A>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2879672	NM_024529.5(CDC73):c.829-13_829-8del	CDC73	Deletion (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2877207	NM_024529.5(CDC73):c.307+5G>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GUncertain significance
Select item 2869482	NM_024529.5(CDC73):c.34A>C (p.Asn12His)	CDC73 (N12H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2867782	NM_024529.5(CDC73):c.908-4G>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2867772	NM_024529.5(CDC73):c.436G>C (p.Val146Leu)	CDC73 (V146L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2864026	NM_024529.5(CDC73):c.1257T>C (p.Ile419=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2861495	NM_024529.5(CDC73):c.1248C>G (p.Gly416=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2860729	NM_024529.5(CDC73):c.829-20C>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2860009	NM_024529.5(CDC73):c.972+17G>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2859704	NM_024529.5(CDC73):c.308-20G>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2856495	NM_024529.5(CDC73):c.730A>G (p.Asn244Asp)	CDC73 (N244D)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2851102	NM_024529.5(CDC73):c.104A>G (p.Asn35Ser)	CDC73 (N35S)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2849521	NM_024529.5(CDC73):c.307+16A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2848129	NM_024529.5(CDC73):c.1066+19T>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2847407	NM_024529.5(CDC73):c.34A>G (p.Asn12Asp)	CDC73 (N12D)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2846164	NM_024529.5(CDC73):c.828+18C>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2843579	NM_024529.5(CDC73):c.92C>T (p.Ser31Phe)	CDC73 (S31F)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2840999	NM_024529.5(CDC73):c.238-10T>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2838581	NM_024529.5(CDC73):c.599A>G (p.Asp200Gly)	CDC73 (D200G)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2837800	NM_024529.5(CDC73):c.516T>C (p.Ser172=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2836552	NM_024529.5(CDC73):c.1155-14_1155-13del	CDC73	Microsatellite (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2836016	NM_024529.5(CDC73):c.371-11T>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2835971	NM_024529.5(CDC73):c.1202_1207del (p.Asn401_Glu402del)	CDC73	Deletion (inframe_deletion)	Parathyroid carcinoma	GUncertain significance
Select item 2834965	NM_024529.5(CDC73):c.1558A>C (p.Arg520=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2834712	NM_024529.5(CDC73):c.1455G>T (p.Leu485=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2834377	NM_024529.5(CDC73):c.288A>T (p.Gly96=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2832988	NM_024529.5(CDC73):c.1030+9A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2832278	NM_024529.5(CDC73):c.308-7T>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2831363	NM_024529.5(CDC73):c.1147G>C (p.Asp383His)	CDC73 (D383H)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2830878	NM_024529.5(CDC73):c.1550C>A (p.Thr517Lys)	CDC73 (T517K)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2828339	NM_024529.5(CDC73):c.678C>T (p.Ser226=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +1 more	GLikely benign
Select item 2820972	NM_024529.5(CDC73):c.53T>C (p.Ile18Thr)	CDC73 (I18T)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2820831	NM_024529.5(CDC73):c.131+15G>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2820778	NM_024529.5(CDC73):c.753A>T (p.Ala251=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2820242	NM_024529.5(CDC73):c.131+16C>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2820229	NM_024529.5(CDC73):c.497A>T (p.Gln166Leu)	CDC73 (Q166L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2819807	NM_024529.5(CDC73):c.1236dup (p.Gln413fs)	CDC73 (Q413fs)	Duplication (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 2818838	NM_024529.5(CDC73):c.2dup (p.Met1fs)	CDC73 (M1fs)	Duplication (frameshift variant +1 more)	Parathyroid carcinoma	GPathogenic
Select item 2816365	NM_024529.5(CDC73):c.528T>C (p.Ala176=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma	GLikely benign
Select item 2814783	NM_024529.5(CDC73):c.1030+14A>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2814161	NM_024529.5(CDC73):c.423+14A>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2813552	NM_024529.5(CDC73):c.1155-14C>G	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2812745	NM_024529.5(CDC73):c.644A>C (p.Asp215Ala)	CDC73 (D215A)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2811926	NM_024529.5(CDC73):c.423+14A>T	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign
Select item 2810869	NM_024529.5(CDC73):c.512+6A>C	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GUncertain significance
Select item 2810313	NM_024529.5(CDC73):c.96del (p.Trp32fs)	CDC73 (W32fs)	Deletion (frameshift variant)	Parathyroid carcinoma	GPathogenic
Select item 2809506	NM_024529.5(CDC73):c.121G>C (p.Val41Leu)	CDC73 (V41L)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2809114	NM_024529.5(CDC73):c.18C>A (p.Ser6Arg)	CDC73 (S6R)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2806022	NM_024529.5(CDC73):c.1462A>C (p.Asn488His)	CDC73 (N488H)	Single nucleotide variant (missense variant)	Parathyroid carcinoma	GUncertain significance
Select item 2806021	NM_024529.5(CDC73):c.423+10C>A	CDC73	Single nucleotide variant (intron variant)	Parathyroid carcinoma	GLikely benign

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