ClinVar for MedGen (Select 934675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065951	NM_001077350.3(NPRL3):c.187_188del (p.Arg63fs)	HBA-LCR, NPRL3 (R63fs)	Deletion (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3023976	NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)	HBA-LCR, NPRL3	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3019172	NM_001077350.3(NPRL3):c.630-16C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3017669	NM_001077350.3(NPRL3):c.1162-13C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3016735	NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)	HBA-LCR, NPRL3	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3015870	NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)	HBA-LCR, NPRL3 (K209T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3014893	NM_001077350.3(NPRL3):c.630-13C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3012042	NM_001077350.3(NPRL3):c.630-15G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3011289	NM_001077350.3(NPRL3):c.767+12G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 3003477	NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)	HBA-LCR, NPRL3 (E185Q +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3002263	NM_001077350.3(NPRL3):c.1031+7G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3001757	NM_001077350.3(NPRL3):c.629+8A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2999730	NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)	NPRL3	Single nucleotide variant (stop lost)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2999601	NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)	HBA-LCR, NPRL3 (R245Q +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2986038	NM_001077350.3(NPRL3):c.1686C>T (p.Ala562=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2985702	NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)	HBA-LCR, NPRL3 (T164S +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2985682	NM_001077350.3(NPRL3):c.1161+20G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2985629	NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)	HBA-LCR, NPRL3 (C253G +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2980326	NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2978072	NM_001077350.3(NPRL3):c.1032-14T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2977332	NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)	HBA-LCR, NPRL3 (A167V +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2976528	NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)	HBA-LCR, NPRL3 (L271P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2972097	NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)	HBA-LCR, NPRL3 (R140Q +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2965015	NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)	HBA-LCR, NPRL3 (L195S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2964423	NM_001077350.3(NPRL3):c.1352-17A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2962802	NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)	HBA-LCR, NPRL3 (T75I)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2918384	NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)	HBA-LCR, NPRL3 (C198F +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2911670	NM_001077350.3(NPRL3):c.318+18C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2909193	NM_001077350.3(NPRL3):c.118+19G>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2897132	NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)	HBA-LCR, NPRL3 (R133C +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2897124	NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)	HBA-LCR, NPRL3 (L367P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2891022	NM_001077350.3(NPRL3):c.767+12G>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2890144	NM_001077350.3(NPRL3):c.630-21_630-20dup	HBA-LCR, NPRL3	Duplication (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2881624	NM_001077350.3(NPRL3):c.394-11C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2879394	NM_001077350.3(NPRL3):c.1351+9C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2873449	NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)	NPRL3 (D379G +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2869006	NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)	NPRL3 (E455Q +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2864006	NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)	NPRL3 (R369C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2861865	NM_001077350.3(NPRL3):c.1351+3A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2860852	NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)	HBA-LCR, NPRL3 (P323L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2853432	NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2850730	NM_001077350.3(NPRL3):c.319-18A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2849102	NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)	HBA-LCR, NPRL3 (G449A +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2846659	NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)	NPRL3 (F442L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2843089	NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)	HBA-LCR, NPRL3 (L22V)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2837481	NM_001077350.3(NPRL3):c.394-16_394-15delinsTT	HBA-LCR, NPRL3	Indel (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2834892	NM_001077350.3(NPRL3):c.763_766dup (p.Arg256fs)	HBA-LCR, NPRL3 (R231fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2834858	NM_001077350.3(NPRL3):c.318+16G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2832824	NM_001077350.3(NPRL3):c.925-10T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2828940	NM_001077350.3(NPRL3):c.667_670del (p.Ser223fs)	HBA-LCR, NPRL3 (S198fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2825158	NM_001077350.3(NPRL3):c.394-9C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2820516	NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)	HBA-LCR, NPRL3 (M431I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2818975	NM_001077350.3(NPRL3):c.1159del (p.Glu387fs)	HBA-LCR, NPRL3 (E387fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2818410	NM_001077350.3(NPRL3):c.118+18_118+40del	HBA-LCR, NPRL3	Deletion (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2818282	NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2815858	NM_001077350.3(NPRL3):c.1352-10_1368del	HBA-LCR, NPRL3	Deletion (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2814047	NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)	NPRL3 (E450G +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2813825	NM_001077350.3(NPRL3):c.1161+15C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2812906	NM_001077350.3(NPRL3):c.118+1G>A	HBA-LCR, NPRL3	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2811369	NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)	HBA-LCR, NPRL3 (L153R +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2808098	NM_001077350.3(NPRL3):c.1161+5G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2806006	NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)	HBA-LCR, NPRL3 (P11L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2805369	NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)	HBA-LCR, NPRL3 (N485K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2800501	NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)	NPRL3 (L388V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2797523	NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)	HBA-LCR, NPRL3 (Q58P)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2796889	NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)	HBA-LCR, NPRL3 (Q361E +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2796006	NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)	HBA-LCR, NPRL3	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2792507	NM_001077350.3(NPRL3):c.1352-10T>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2792502	NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2791290	NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)	HBA-LCR, NPRL3 (D275N +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2788230	NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)	HBA-LCR, NPRL3 (L179F +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2782721	NM_001077350.3(NPRL3):c.1563C>A (p.Arg521=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2781637	NM_001077350.3(NPRL3):c.767+15C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2781100	NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)	HBA-LCR, NPRL3 (R133S +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2777982	NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2776218	NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)	NPRL3 (E354K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2775623	NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2775611	NM_001077350.3(NPRL3):c.188+13C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2770602	NM_001077350.3(NPRL3):c.526G>T (p.Glu176Ter)	HBA-LCR, NPRL3 (E98* +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2770594	NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)	HBA-LCR, NPRL3 (S187R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2770150	NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)	HBA-LCR, NPRL3 (P165S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2769875	NM_001077350.3(NPRL3):c.434_453del (p.Leu145fs)	HBA-LCR, NPRL3 (L120fs +2 more)	Deletion (5 prime UTR variant +1 more)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2769794	NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)	HBA-LCR, NPRL3 (A203V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2766953	NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)	HBA-LCR, NPRL3 (D386E +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2764247	NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2764246	NM_001077350.3(NPRL3):c.1034del (p.Tyr345fs)	HBA-LCR, NPRL3 (Y320fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2761100	NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)	HBA-LCR, NPRL3 (G81D +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2756861	NM_001077350.3(NPRL3):c.118+6T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2754512	NM_001077350.3(NPRL3):c.1031+5G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2753488	NM_001077350.3(NPRL3):c.781del (p.Leu261fs)	HBA-LCR, NPRL3 (L183fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2746587	NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)	HBA-LCR, NPRL3 (L377P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2743201	NM_001077350.3(NPRL3):c.547+2T>A	HBA-LCR, NPRL3	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2743082	NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)	HBA-LCR, NPRL3 (M79T +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2741172	NM_001077350.3(NPRL3):c.1351+11C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2740939	NM_001077350.3(NPRL3):c.767+17A>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2740938	NM_001077350.3(NPRL3):c.767+19del	HBA-LCR, NPRL3	Deletion (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2737984	NM_001077350.3(NPRL3):c.188+5A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2734935	NM_001077350.3(NPRL3):c.1427del (p.Ser476fs)	HBA-LCR, NPRL3 (S398fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2733315	NM_001077350.3(NPRL3):c.1161+6T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2732275	NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)	HBA-LCR, NPRL3 (V255D +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance

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