ClinVar for MedGen (Select 1413) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246783	NC_000003.11:g.(?_120393728)_(120394730_?)del	HGD	Deletion	Alkaptonuria	GPathogenic
Select item 3246782	NC_000003.11:g.(?_120394619)_(120394730_?)del	HGD	Deletion	Alkaptonuria	GLikely pathogenic
Select item 3246781	NC_000003.11:g.(?_120347227)_(120347417_?)del	HGD	Deletion	Alkaptonuria	GPathogenic
Select item 3246780	NC_000003.11:g.(?_120400924)_(120400958_?)del	HGD	Deletion	Alkaptonuria	GPathogenic
Select item 3065877	NM_000187.4(HGD):c.1034T>C (p.Leu345Pro)	HGD (L345P)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 3065793	NM_000187.4(HGD):c.342+2T>C	HGD	Single nucleotide variant (splice donor variant)	Alkaptonuria	GLikely pathogenic
Select item 3065524	NM_000187.4(HGD):c.804G>C (p.Trp268Cys)	HGD (W268C)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 3020208	NM_000187.4(HGD):c.774+20A>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3017544	NM_000187.4(HGD):c.177-19T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3014633	NM_000187.4(HGD):c.283-18T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3014284	NM_000187.4(HGD):c.666C>G (p.Ala222=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 3008342	NM_000187.4(HGD):c.470-18C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3007616	NM_000187.4(HGD):c.216C>T (p.Pro72=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 3007017	NM_000187.4(HGD):c.775-15G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3003051	NM_000187.4(HGD):c.1006+9C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 3002936	NM_000187.4(HGD):c.255G>A (p.Trp85Ter)	HGD (W85*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 3002045	NM_000187.4(HGD):c.176+14A>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2998305	NM_000187.4(HGD):c.525G>A (p.Gln175=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2990834	NM_000187.4(HGD):c.972T>G (p.Val324=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2983546	NM_000187.4(HGD):c.852T>C (p.Val284=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2973322	NM_000187.4(HGD):c.470-6del	HGD	Deletion (intron variant)	Alkaptonuria	GBenign
Select item 2962530	NM_000187.4(HGD):c.434+20G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2958656	NM_000187.4(HGD):c.1275G>A (p.Lys425=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2955081	NM_000187.4(HGD):c.470-11T>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2919345	NM_000187.4(HGD):c.891T>C (p.Ile297=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2919226	NM_000187.4(HGD):c.434+13G>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2918857	NM_000187.4(HGD):c.649+13T>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2918696	NM_000187.4(HGD):c.434+14T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2916481	NM_000187.4(HGD):c.177-17T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2916272	NM_000187.4(HGD):c.343-11G>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2912336	NM_000187.4(HGD):c.282+11C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2909927	NM_000187.4(HGD):c.1230G>A (p.Lys410=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2908483	NM_000187.4(HGD):c.1007-18C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2907204	NM_000187.4(HGD):c.879+14C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2906190	NM_000187.4(HGD):c.633T>C (p.Pro211=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2905488	NM_000187.4(HGD):c.1191A>G (p.Ala397=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2904583	NM_000187.4(HGD):c.343-11del	HGD	Deletion (intron variant)	Alkaptonuria	GLikely benign
Select item 2904401	NM_000187.4(HGD):c.105C>A (p.Cys35Ter)	HGD (C35*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 2901887	NM_000187.4(HGD):c.434+12A>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2901430	NM_000187.4(HGD):c.88-20T>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2895160	NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)	HGD (Q354P)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2890397	NM_000187.4(HGD):c.279C>T (p.Asn93=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2889971	NM_000187.4(HGD):c.880-23_880-18del	HGD	Deletion (intron variant)	Alkaptonuria	GLikely benign
Select item 2887853	NM_000187.4(HGD):c.1249A>C (p.Arg417=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2882821	NM_000187.4(HGD):c.177-4C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2879176	NM_000187.4(HGD):c.1110C>T (p.Pro370=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2878221	NM_000187.4(HGD):c.1098C>T (p.Ser366=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2872351	NM_000187.4(HGD):c.1242G>A (p.Lys414=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2870352	NM_000187.4(HGD):c.342+19C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2870226	NM_000187.4(HGD):c.165C>T (p.Thr55=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2850560	NM_000187.4(HGD):c.435-1G>C	HGD	Single nucleotide variant (splice acceptor variant)	Alkaptonuria	GLikely pathogenic
Select item 2842091	NM_000187.4(HGD):c.469+15C>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2841098	NM_000187.4(HGD):c.283-20T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2840099	NM_000187.4(HGD):c.717A>T (p.Val239=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2832437	NM_000187.4(HGD):c.95C>A (p.Pro32His)	HGD (P32H)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2828876	NM_000187.4(HGD):c.480A>G (p.Lys160=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2827123	NM_000187.4(HGD):c.672T>C (p.Pro224=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2826201	NM_000187.4(HGD):c.1320C>T (p.Asn440=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2824886	NM_000187.4(HGD):c.434+19G>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2813347	NM_000187.4(HGD):c.210C>T (p.His70=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2808049	NM_000187.4(HGD):c.100del (p.Val34fs)	HGD (V34fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 2802575	NM_000187.4(HGD):c.177-18G>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2802089	NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)	HGD (Y234*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 2796308	NM_000187.4(HGD):c.649+18G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2784686	NM_000187.4(HGD):c.684G>A (p.Leu228=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2783245	NM_000187.4(HGD):c.756G>A (p.Lys252=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2775920	NM_000187.4(HGD):c.900A>G (p.Val300=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2771767	NM_000187.4(HGD):c.550-7A>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2769360	NM_000187.4(HGD):c.879+14del	HGD	Deletion (intron variant)	Alkaptonuria	GLikely benign
Select item 2767349	NM_000187.4(HGD):c.1189-14G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2766875	NM_000187.4(HGD):c.880-20C>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2765839	NM_000187.4(HGD):c.342+20A>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2756214	NM_000187.4(HGD):c.499A>G (p.Thr167Ala)	HGD (T167A)	Single nucleotide variant (missense variant)	Alkaptonuria	GUncertain significance
Select item 2755237	NM_000187.4(HGD):c.588_597del (p.Arg197fs)	HGD (R197fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 2754353	NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)	HGD (C377*)	Single nucleotide variant (nonsense)	Alkaptonuria	GPathogenic
Select item 2753147	NM_000187.4(HGD):c.342+16_342+17del	HGD	Deletion (intron variant)	Alkaptonuria	GLikely benign
Select item 2747200	NM_000187.4(HGD):c.398del (p.Ile133fs)	HGD (I133fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic
Select item 2742045	NM_000187.4(HGD):c.342+15T>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2741955	NM_000187.4(HGD):c.15+16A>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2741214	NM_000187.4(HGD):c.735C>T (p.Val245=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2739007	NM_000187.4(HGD):c.649+13T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2737772	NM_000187.4(HGD):c.283-13A>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2736297	NM_000187.4(HGD):c.375A>T (p.Ile125=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2734554	NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)	HGD (P359L)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 2733428	NM_000187.4(HGD):c.87+13A>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2733019	NM_000187.4(HGD):c.963A>G (p.Arg321=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2731645	NM_000187.4(HGD):c.1189-20C>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2731345	NM_000187.4(HGD):c.57T>G (p.Pro19=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2729198	NM_000187.4(HGD):c.774+7T>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2727810	NM_000187.4(HGD):c.775-15G>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2725437	NM_000187.4(HGD):c.343-20_343-19del	HGD	Microsatellite (intron variant)	Alkaptonuria	GLikely benign
Select item 2722830	NM_000187.4(HGD):c.434+19G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2716429	NM_000187.4(HGD):c.660C>G (p.Gly220=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2716261	NM_000187.4(HGD):c.177-16A>G	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2711988	NM_000187.4(HGD):c.176+13G>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2709000	NM_000187.4(HGD):c.15+15G>A	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2702601	NM_000187.4(HGD):c.177-14_177-11del	HGD	Deletion (intron variant)	Alkaptonuria	GLikely benign
Select item 2693408	NM_000187.4(HGD):c.897A>G (p.Thr299=)	HGD	Single nucleotide variant (synonymous variant)	Alkaptonuria	GLikely benign
Select item 2692789	NM_000187.4(HGD):c.87+8C>T	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely benign
Select item 2683742	NM_000187.4(HGD):c.926G>T (p.Gly309Val)	HGD (G309V)	Single nucleotide variant (missense variant)	Alkaptonuria	GPathogenic

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