HBA-LCR[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 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
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 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152889	GRCh38/hg38 16p13.3(chr16:43722-308914)x3	ARHGDIG, AXIN1 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	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 58387	GRCh38/hg38 16p13.3(chr16:46766-168972)x3	HBA-LCR, HBM +13 more	Copy number gain	See cases	GUncertain significance
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 144374	GRCh38/hg38 16p13.3(chr16:64296-135757)x3	HBA-LCR, LOC121530606 +7 more	Copy number gain	See cases	GBenign
Select item 1615224	NM_001077350.3(NPRL3):c.1544+20T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1455390	NM_001077350.3(NPRL3):c.1544+19G>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GLikely benign
Select item 446045	NM_001077350.3(NPRL3):c.1544+18C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GBenign/Likely benign
Select item 1632875	NM_001077350.3(NPRL3):c.1544+12T>C	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 863785	NM_001077350.3(NPRL3):c.1544+3_1544+5del	HBA-LCR, NPRL3	Deletion (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1002237	NM_001077350.3(NPRL3):c.1544+1del	HBA-LCR, NPRL3	Deletion (splice donor variant)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 2106716	NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1606480	NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1059376	NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val)	HBA-LCR, NPRL3 (M333V +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1139799	NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1422500	NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His)	HBA-LCR, NPRL3 (R332H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1417315	NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys)	HBA-LCR, NPRL3 (R332C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1407261	NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile)	HBA-LCR, NPRL3 (L485I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 542797	NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs)	HBA-LCR, NPRL3 (Q505fs +3 more)	Indel (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
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 1059077	NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del)	HBA-LCR, NPRL3	Deletion (inframe_deletion)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2004618	NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)	HBA-LCR, NPRL3 (A426S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1413638	NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr)	HBA-LCR, NPRL3 (A425T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1090731	NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 1117657	NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely 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 542793	NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely 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 659557	NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)	HBA-LCR, NPRL3 (R316C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1452513	NM_001077350.3(NPRL3):c.1480G>T (p.Glu494Ter)	HBA-LCR, NPRL3 (E416* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1961976	NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 1531803	NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1164852	NM_001077350.3(NPRL3):c.1468dup (p.Leu490fs)	HBA-LCR, NPRL3 (L311fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GBenign
Select item 2016572	NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)	HBA-LCR, NPRL3 (L311fs +3 more)	Insertion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1166782	NM_001077350.3(NPRL3):c.1466_1467= (p.Ser489=)	HBA-LCR, NPRL3	Variation (no sequence alteration)	Epilepsy, familial focal, with variable foci 3	GBenign
Select item 1592802	NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 1097721	NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 580875	NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)	HBA-LCR, NPRL3 (T458M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 834118	NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser)	HBA-LCR, NPRL3 (R456S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 3251992	NM_001077350.3(NPRL3):c.1438C>T (p.Gln480Ter)	HBA-LCR, NPRL3 (Q301* +3 more)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 3	GLikely pathogenic
Select item 1501103	NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys)	HBA-LCR, NPRL3 (N300K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1015443	NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg)	HBA-LCR, NPRL3 (L453R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1395514	NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu)	HBA-LCR, NPRL3 (P399L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 744454	NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 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 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 1041645	NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg)	HBA-LCR, NPRL3 (G474R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 542812	NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GLikely benign
Select item 2714645	NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1547058	NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 643202	NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)	HBA-LCR, NPRL3 (A443T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1142303	NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 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 254359	NM_001077350.3(NPRL3):c.1375_1376dup (p.Ser460fs)	HBA-LCR, NPRL3 (S460fs +3 more)	Duplication (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 1991078	NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 944018	NM_001077350.3(NPRL3):c.1372del (p.Leu458fs)	HBA-LCR, NPRL3 (L380fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
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 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 2130272	NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)	HBA-LCR, NPRL3 (M431I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1088365	NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=)	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 +1 more	GUncertain significance
Select item 930426	NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	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 1551880	NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=)	HBA-LCR, NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 254358	NM_001077350.3(NPRL3):c.1352-4_1352-1delinsTGACCCATCC	HBA-LCR, NPRL3	Indel (splice acceptor variant)	Epilepsy, familial focal, with variable foci 3	GPathogenic
Select item 2716517	NM_001077350.3(NPRL3):c.1352-5C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1043003	NM_001077350.3(NPRL3):c.1352-5C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2143888	NM_001077350.3(NPRL3):c.1352-6C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1158841	NM_001077350.3(NPRL3):c.1352-9C>A	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1096315	NM_001077350.3(NPRL3):c.1352-9C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	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 1656587	NM_001077350.3(NPRL3):c.1352-14C>G	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1618561	NM_001077350.3(NPRL3):c.1352-15C>T	HBA-LCR, NPRL3	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 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

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