ClinVar for Gene (Select 8131) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243564	NC_000016.9:g.(?_188152)_(189914_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243563	NC_000016.9:g.(?_159889)_(160561_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 3243562	NC_000016.9:g.(?_97132)_(148319_?)dup	SNRNP25, MPG +3 more	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243561	NC_000016.9:g.(?_138677)_(150527_?)dup	NPRL3	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243559	NC_000016.9:g.(?_136704)_(160624_?)dup	NPRL3	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243558	NC_000016.9:g.(?_148123)_(163851_?)dup	NPRL3	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243557	NC_000016.9:g.(?_136704)_(169274_?)dup	NPRL3	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243556	NC_000016.9:g.(?_136704)_(188266_?)dup	NPRL3	Duplication	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243555	NC_000016.9:g.(?_97132)_(150527_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243554	NC_000016.9:g.(?_97132)_(167394_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243553	NC_000016.9:g.(?_167280)_(169274_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243552	NC_000016.9:g.(?_167280)_(180610_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243551	NC_000016.9:g.(?_180501)_(188266_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243550	NC_000016.9:g.(?_97132)_(143343_?)del	MPG, NPRL3 +3 more	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243548	NC_000016.9:g.(?_169105)_(193701_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243547	NC_000016.9:g.(?_148123)_(148319_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3243546	NC_000016.9:g.(?_167280)_(167394_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3243545	NC_000016.9:g.(?_136704)_(188266_?)del	NPRL3	Deletion	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 3233477	NM_001077350.3(NPRL3):c.767+14C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3201829	NM_001015052.3(MPG):c.847G>A (p.Val283Ile)	MPG, NPRL3 (V283I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201791	NM_001015052.3(MPG):c.714G>T (p.Trp238Cys)	MPG, NPRL3 (W238C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201788	NM_001015052.3(MPG):c.697C>A (p.Gln233Lys)	MPG, NPRL3 (Q238K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201785	NM_001015052.3(MPG):c.688G>A (p.Asp230Asn)	MPG, NPRL3 (D218N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3201782	NM_001077350.3(NPRL3):c.28G>A (p.Val10Met)	HBA-LCR, NPRL3 (V10M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201781	NM_001077350.3(NPRL3):c.166G>A (p.Asp56Asn)	HBA-LCR, NPRL3 (D56N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201780	NM_001015052.3(MPG):c.586C>G (p.Arg196Gly)	MPG, NPRL3 (R201G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3064066	NM_001077350.3(NPRL3):c.1592A>C (p.Tyr531Ser)	NPRL3 (Y352S +3 more)	Single nucleotide variant (missense variant)	NPRL3-related disorder	Gnot provided
Select item 3063424	GRCh37/hg19 16p13.3(chr16:143863-186659)x1	NPRL3	Copy number loss	not specified	GPathogenic
Select item 3026069	NM_001077350.3(NPRL3):c.1693C>G (p.Gln565Glu)	NPRL3 (Q386E +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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

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