"GeneDx"[submitter] AND "NPRL3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151635	GRCh38/hg38 16p13.3(chr16:16203-129081)x3	HBA-LCR, LOC121530606 +14 more	Copy number gain	See cases	GBenign
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 1195638	NM_001077350.3(NPRL3):c.*185G>A	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1187214	NM_001077350.3(NPRL3):c.*75G>A	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1240682	NM_001077350.3(NPRL3):c.*68T>G	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1211903	NM_001077350.3(NPRL3):c.*43C>T	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1265007	NM_001077350.3(NPRL3):c.*38G>C	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1219556	NM_001077350.3(NPRL3):c.*8C>T	NPRL3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 542795	NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?)	NPRL3	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 3253305	NM_001077350.3(NPRL3):c.1676_1677del (p.Pro559fs)	NPRL3 (P380fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 579166	NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His)	NPRL3 (R548H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2864006	NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)	NPRL3 (R369C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 542810	NM_001077350.3(NPRL3):c.1625T>C (p.Met542Thr)	NPRL3 (M517T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 542806	NM_001077350.3(NPRL3):c.1593C>T (p.Tyr531=)	NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1314644	NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del)	NPRL3 (E349del +3 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1326091	NM_001077350.3(NPRL3):c.1568G>A (p.Arg523His)	NPRL3 (R344H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373202	NM_001077350.3(NPRL3):c.1553A>G (p.His518Arg)	NPRL3 (H339R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 542804	NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr)	HBA-LCR, NPRL3 (N481Y +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1313313	NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val)	HBA-LCR, NPRL3 (I319V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1700553	NM_001077350.3(NPRL3):c.1488A>G (p.Ala496=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 445596	NM_001077350.3(NPRL3):c.1486G>A (p.Ala496Thr)	HBA-LCR, NPRL3 (A471T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign/Likely benign
Select item 572036	NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)	HBA-LCR, NPRL3 (R470H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3367531	NM_001077350.3(NPRL3):c.1472C>T (p.Ser491Leu)	HBA-LCR, NPRL3 (S312L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186271	NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu)	HBA-LCR, NPRL3 (S297L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1311950	NM_001077350.3(NPRL3):c.1380C>A (p.Ser460Arg)	HBA-LCR, NPRL3 (S281R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +1 more	GUncertain significance
Select item 542808	NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 524129	NM_001077350.2(NPRL3):c.1353_1356delCAGC	HBA-LCR, NPRL3	Microsatellite	not provided	GPathogenic
Select item 1202924	NM_001077350.3(NPRL3):c.1352-148G>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250590	NM_001077350.3(NPRL3):c.1352-179C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260401	NM_001077350.3(NPRL3):c.1352-198A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208877	NM_001077350.3(NPRL3):c.1352-244C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269065	NM_001077350.3(NPRL3):c.1351+274C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282055	NM_001077350.3(NPRL3):c.1351+110G>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205099	NM_001077350.3(NPRL3):c.1351+94G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247905	NM_001077350.3(NPRL3):c.1351+77G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1185296	NM_001077350.3(NPRL3):c.1351+75T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1197444	NM_001077350.3(NPRL3):c.1351+35_1351+36del	HBA-LCR, NPRL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1222841	NM_001077350.3(NPRL3):c.1351+19C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 733575	NM_001077350.3(NPRL3):c.1351+7C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 +1 more	GUncertain significance
Select item 1500544	NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met)	HBA-LCR, NPRL3 (T262M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GUncertain significance
Select item 2499712	NM_001077350.3(NPRL3):c.1303G>A (p.Gly435Ser)	HBA-LCR, NPRL3 (G256S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787717	NM_001077350.3(NPRL3):c.1302C>T (p.Val434=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign
Select item 2574189	NM_001077350.3(NPRL3):c.1300G>T (p.Val434Phe)	HBA-LCR, NPRL3 (V255F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022748	NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp)	HBA-LCR, NPRL3 (R254W +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 476219	NM_001077350.3(NPRL3):c.1278C>G (p.Asp426Glu)	HBA-LCR, NPRL3 (D426E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 254360	NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)	HBA-LCR, NPRL3 (R424* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3 +1 more	GPathogenic/Likely pathogenic
Select item 476218	NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys)	HBA-LCR, NPRL3 (E418K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GConflicting classifications of pathogenicity
Select item 1804241	NM_001077350.3(NPRL3):c.1241C>A (p.Ala414Asp)	HBA-LCR, NPRL3 (A235D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392471	NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile)	HBA-LCR, NPRL3 (M388I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1396110	NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val)	HBA-LCR, NPRL3 (M335V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1393387	NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro)	HBA-LCR, NPRL3 (L325P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 662248	NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln)	HBA-LCR, NPRL3 (R222Q +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 640170	NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp)	HBA-LCR, NPRL3 (R222W +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1053945	NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His)	HBA-LCR, NPRL3 (R221H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 542811	NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 620361	NM_001077350.3(NPRL3):c.1195C>T (p.Gln399Ter)	HBA-LCR, NPRL3 (Q374* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373249	NM_001077350.3(NPRL3):c.1175A>C (p.Gln392Pro)	HBA-LCR, NPRL3 (Q213P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208253	NM_001077350.3(NPRL3):c.1161+38T>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205075	NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr)	HBA-LCR, NPRL3 (A205T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1092053	NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1189162	NM_001077350.3(NPRL3):c.1123T>G (p.Ser375Ala)	HBA-LCR, NPRL3 (S196A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 957562	NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup)	HBA-LCR, NPRL3	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1704744	NM_001077350.3(NPRL3):c.1118C>T (p.Ser373Phe)	HBA-LCR, NPRL3 (S194F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307490	NM_001077350.3(NPRL3):c.1081C>A (p.Leu361Met)	HBA-LCR, NPRL3 (L182M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142763	NM_001077350.3(NPRL3):c.1047C>T (p.Ala349=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +2 more	GLikely benign
Select item 476213	NM_001077350.3(NPRL3):c.1041G>A (p.Pro347=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign
Select item 1904857	NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)	HBA-LCR, NPRL3 (P347L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 1052227	NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser)	HBA-LCR, NPRL3 (P168S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1243039	NM_001077350.3(NPRL3):c.1032-47C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183344	NM_001077350.3(NPRL3):c.1032-102A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1218293	NM_001077350.3(NPRL3):c.1031+34C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 542809	NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu)	HBA-LCR, NPRL3 (V317L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 841458	NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu)	HBA-LCR, NPRL3 (M156L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 504291	NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del)	HBA-LCR, NPRL3 (N307del +3 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1308949	NM_001077350.3(NPRL3):c.995A>C (p.Asn332Thr)	HBA-LCR, NPRL3 (N153T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847490	NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)	HBA-LCR, NPRL3 (P302L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GConflicting classifications of pathogenicity
Select item 938089	NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser)	HBA-LCR, NPRL3 (G320S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307481	NM_001077350.3(NPRL3):c.952T>C (p.Tyr318His)	HBA-LCR, NPRL3 (Y139H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687697	NM_001077350.3(NPRL3):c.949G>A (p.Val317Met)	HBA-LCR, NPRL3 (V138M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3363893	NM_001077350.3(NPRL3):c.933G>C (p.Gln311His)	HBA-LCR, NPRL3 (Q132H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264042	NM_001077350.3(NPRL3):c.925-180G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268306	NM_001077350.3(NPRL3):c.925-258dup	HBA-LCR, NPRL3	Duplication (intron variant)	not provided	GBenign
Select item 1220317	NM_001077350.3(NPRL3):c.925-258_925-257dup	HBA-LCR, NPRL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1275630	NM_001077350.3(NPRL3):c.924+296G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235808	NM_001077350.3(NPRL3):c.924+278G>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268622	NM_001077350.3(NPRL3):c.924+210C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219743	NM_001077350.3(NPRL3):c.924+173C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195540	NM_001077350.3(NPRL3):c.924+134G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181953	NM_001077350.3(NPRL3):c.924+109G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 542807	NM_001077350.3(NPRL3):c.924+7C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign
Select item 476230	NM_001077350.3(NPRL3):c.919C>T (p.Leu307=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3371350	NM_001077350.3(NPRL3):c.818A>G (p.Glu273Gly)	HBA-LCR, NPRL3 (E195G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504171	NM_001077350.3(NPRL3):c.794G>A (p.Ser265Asn)	HBA-LCR, NPRL3 (S187N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185372	NM_001077350.3(NPRL3):c.768-53C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1210963	NM_001077350.3(NPRL3):c.768-135A>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231298	NM_001077350.3(NPRL3):c.768-168C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided	GBenign

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