8131[geneid] - 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 3295676	NM_001015052.3(MPG):c.506G>T (p.Gly169Val)	MPG, NPRL3 (G157V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533028	NM_001015052.3(MPG):c.506G>C (p.Gly169Ala)	MPG, NPRL3 (G157A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2251275	NM_001015052.3(MPG):c.598G>A (p.Ala200Thr)	MPG, NPRL3 (A188T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507572	NM_001015052.3(MPG):c.613A>G (p.Lys205Glu)	MPG, NPRL3 (K205E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482627	NM_001015052.3(MPG):c.622G>A (p.Glu208Lys)	MPG, NPRL3 (E208K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553692	NM_001015052.3(MPG):c.641C>G (p.Ser214Cys)	MPG, NPRL3 (S219C +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 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 3251408	NM_001077350.3(NPRL3):c.*1096C>T	MPG, NPRL3 (W226* +2 more)	Single nucleotide variant (nonsense +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 2325128	NM_001015052.3(MPG):c.721C>T (p.Arg241Cys)	MPG, NPRL3 (R241C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319002	NM_001015052.3(MPG):c.764C>T (p.Ala255Val)	MPG, NPRL3 (A243V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400860	NM_001015052.3(MPG):c.766C>T (p.Arg256Trp)	MPG, NPRL3 (R244W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464870	NM_001015052.3(MPG):c.778G>A (p.Gly260Ser)	MPG, NPRL3 (G260S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233601	NM_001015052.3(MPG):c.799C>T (p.Arg267Trp)	MPG, NPRL3 (R255W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400630	NM_001015052.3(MPG):c.806C>T (p.Pro269Leu)	MPG, NPRL3 (P257L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375288	NM_001015052.3(MPG):c.812G>A (p.Arg271His)	MPG, NPRL3 (R259H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408517	NM_001015052.3(MPG):c.838G>A (p.Val280Ile)	MPG, NPRL3 (V268I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 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 542795	NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?)	NPRL3	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2049183	NM_001077350.3(NPRL3):c.1701G>C (p.Leu567=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
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 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 1043984	NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile)	NPRL3 (V384I +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 851585	NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr)	NPRL3 (I536T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1395447	NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe)	NPRL3 (V535F +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	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 723936	NM_001077350.3(NPRL3):c.1677T>C (p.Pro559=)	NPRL3	Single nucleotide variant (synonymous 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 853258	NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys)	NPRL3 (E557K +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1621946	NM_001077350.3(NPRL3):c.1668C>T (p.His556=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 861643	NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro)	NPRL3 (H531P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1517652	NM_001077350.3(NPRL3):c.1666del (p.His556fs)	NPRL3 (H377fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1084858	NM_001077350.3(NPRL3):c.1662C>T (p.Thr554=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1614538	NM_001077350.3(NPRL3):c.1656G>A (p.Val552=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2726601	NM_001077350.3(NPRL3):c.1654del (p.Val552fs)	NPRL3 (V474fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1426893	NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu)	NPRL3 (V472L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1424227	NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu)	NPRL3 (V472L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 851562	NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met)	NPRL3 (V472M +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GUncertain significance
Select item 2094802	NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)	NPRL3 (S524R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1586461	NM_001077350.3(NPRL3):c.1647C>T (p.Ser549=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3 +1 more	GLikely benign
Select item 1018115	NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg)	NPRL3 (S370R +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1502763	NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly)	NPRL3 (S370G +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1709488	NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)	NPRL3 (R369L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	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 1465514	NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del)	NPRL3	Deletion (inframe_deletion)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1417659	NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro)	NPRL3 (L518P +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	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 734491	NM_001077350.3(NPRL3):c.1623C>T (p.Leu541=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2109852	NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)	NPRL3 (R358S +3 more)	Indel (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1063971	NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His)	NPRL3 (R358H +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1984494	NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)	NPRL3 (R459C +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1552042	NM_001077350.3(NPRL3):c.1605G>A (p.Thr535=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 2043568	NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)	NPRL3 (T510M +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 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 1143395	NM_001077350.3(NPRL3):c.1596C>T (p.Asn532=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GLikely benign
Select item 1037271	NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser)	NPRL3 (N353S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2645770	NM_001077350.3(NPRL3):c.1594A>G (p.Asn532Asp)	NPRL3 (N353D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1468165	NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile)	NPRL3 (M351I +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 476221	NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr)	NPRL3 (M505T +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 2720220	NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)	NPRL3 (I504S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
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 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 738141	NM_001077350.3(NPRL3):c.1581G>A (p.Glu527=)	NPRL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105418	NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)	NPRL3	Single nucleotide variant (synonymous variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1395000	NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu)	NPRL3 (H447L +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	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 2713340	NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)	NPRL3 (R344fs +3 more)	Deletion (frameshift variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance
Select item 1397088	NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser)	NPRL3 (R523S +3 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 3	GUncertain significance

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