84823[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 1245133	NM_032737.4(LMNB2):c.*272G>C	LMNB2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3043554	NM_032737.4(LMNB2):c.9_21del	LMNB2	Deletion (3 prime UTR variant)	LMNB2-related disorder	GLikely benign
Select item 3050568	NM_032737.4(LMNB2):c.*2C>A	LMNB2	Single nucleotide variant (3 prime UTR variant)	LMNB2-related disorder	GLikely benign
Select item 2648976	NM_032737.4(LMNB2):c.1859T>C (p.Met620Thr)	LMNB2 (M620T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510742	NM_032737.4(LMNB2):c.1855G>A (p.Val619Met)	LMNB2 (V619M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1132758	NM_032737.4(LMNB2):c.1854C>T (p.Tyr618=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1665539	NM_032737.4(LMNB2):c.1852T>C (p.Tyr618His)	LMNB2 (Y618H)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GConflicting classifications of pathogenicity
Select item 2001651	NM_032737.4(LMNB2):c.1847G>T (p.Gly616Val)	LMNB2 (G616V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 749456	NM_032737.4(LMNB2):c.1842A>G (p.Ser614=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2948361	NM_032737.4(LMNB2):c.1835C>T (p.Thr612Ile)	LMNB2 (T612I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 761604	NM_032737.4(LMNB2):c.1830G>A (p.Pro610=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 752635	NM_032737.4(LMNB2):c.1830G>T (p.Pro610=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1392330	NM_032737.4(LMNB2):c.1822G>A (p.Gly608Arg)	LMNB2 (G608R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 740622	NM_032737.4(LMNB2):c.1822-20TCCT[5]	LMNB2	Microsatellite (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 542446	NM_032737.4(LMNB2):c.1822-20TCCT[6]	LMNB2	Microsatellite (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2147637	NM_032737.4(LMNB2):c.1822-20TCCT[3]	LMNB2	Microsatellite (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2924653	NM_032737.4(LMNB2):c.1822-10C>G	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1599607	NM_032737.4(LMNB2):c.1822-17T>C	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 1229867	NM_032737.4(LMNB2):c.1822-220C>T	LMNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235386	NM_032737.4(LMNB2):c.1821+291C>T	LMNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248663	NM_032737.4(LMNB2):c.1821+274A>C	LMNB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2932644	NM_032737.4(LMNB2):c.1821+16C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2926939	NM_032737.4(LMNB2):c.1821+15C>G	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2007432	NM_032737.4(LMNB2):c.1821+15C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1654332	NM_032737.4(LMNB2):c.1821+13T>C	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935150	NM_032737.4(LMNB2):c.1821+8C>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1112156	NM_032737.4(LMNB2):c.1821+7C>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 475780	NM_032737.4(LMNB2):c.1821+4G>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 1392236	NM_032737.4(LMNB2):c.1797C>T (p.Gly599=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 772460	NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp)	LMNB2 (G599D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +2 more	GConflicting classifications of pathogenicity
Select item 1533135	NM_032737.4(LMNB2):c.1793T>C (p.Phe598Ser)	LMNB2 (F598S)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 662106	NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)	LMNB2 (E597K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1137710	NM_032737.4(LMNB2):c.1788C>T (p.Ala596=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2937888	NM_032737.4(LMNB2):c.1787C>G (p.Ala596Gly)	LMNB2 (A596G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1056437	NM_032737.4(LMNB2):c.1776GGA[2] (p.Glu595del)	LMNB2 (E595del)	Microsatellite (inframe_deletion)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1442294	NM_032737.4(LMNB2):c.1777G>C (p.Glu593Gln)	LMNB2 (E593Q)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GUncertain significance
Select item 542447	NM_032737.4(LMNB2):c.1776G>A (p.Glu592=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2936040	NM_032737.4(LMNB2):c.1755G>C (p.Glu585Asp)	LMNB2 (E585D)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 970745	NM_032737.4(LMNB2):c.1751G>A (p.Arg584His)	LMNB2 (R584H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 647572	NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)	LMNB2 (R584C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +3 more	GConflicting classifications of pathogenicity
Select item 1529654	NM_032737.4(LMNB2):c.1749G>A (p.Met583Ile)	LMNB2 (M583I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 861434	NM_032737.4(LMNB2):c.1749G>T (p.Met583Ile)	LMNB2 (M583I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2064424	NM_032737.4(LMNB2):c.1744G>A (p.Val582Met)	LMNB2 (V582M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +2 more	GUncertain significance
Select item 2921614	NM_032737.4(LMNB2):c.1743G>A (p.Ser581=)	LMNB2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 735804	NM_032737.4(LMNB2):c.1743G>C (p.Ser581=)	LMNB2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 971207	NM_032737.4(LMNB2):c.1742C>T (p.Ser581Leu)	LMNB2 (S581L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +2 more	GLikely benign
Select item 1159918	NM_032737.4(LMNB2):c.1740C>T (p.Ser580=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1560132	NM_032737.4(LMNB2):c.1737G>C (p.Lys579Asn)	LMNB2 (K579N)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 3056931	NM_032737.4(LMNB2):c.1731G>A (p.Val577=)	LMNB2	Single nucleotide variant (synonymous variant)	LMNB2-related disorder	GLikely benign
Select item 2106383	NM_032737.4(LMNB2):c.1729G>A (p.Val577Met)	LMNB2 (V577M)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 842363	NM_032737.4(LMNB2):c.1720A>G (p.Met574Val)	LMNB2 (M574V)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1383768	NM_032737.4(LMNB2):c.1711-3C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 1807129	NM_032737.4(LMNB2):c.1711-6G>C	LMNB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 749825	NM_032737.4(LMNB2):c.1711-6G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1167420	NM_032737.4(LMNB2):c.1711-7C>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 1146506	NM_032737.4(LMNB2):c.1711-8C>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2944823	NM_032737.4(LMNB2):c.1711-16G>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1961097	NM_032737.4(LMNB2):c.1711-16G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935577	NM_032737.4(LMNB2):c.1711-18G>A	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 2935064	NM_032737.4(LMNB2):c.1711-19C>T	LMNB2	Single nucleotide variant (intron variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1564695	NM_032737.4(LMNB2):c.1710+14G>T	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1586051	NM_032737.4(LMNB2):c.1710+7G>A	LMNB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1043976	NM_032737.4(LMNB2):c.1708G>A (p.Glu570Lys)	LMNB2 (E570K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 475779	NM_032737.4(LMNB2):c.1707C>T (p.Gly569=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1356074	NM_032737.4(LMNB2):c.1706G>A (p.Gly569Asp)	LMNB2 (G569D)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1007451	NM_032737.4(LMNB2):c.1701G>A (p.Ala567=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1420413	NM_032737.4(LMNB2):c.1700C>T (p.Ala567Val)	LMNB2 (A567V)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 435781	NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr)	LMNB2 (A567T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +2 more	GUncertain significance
Select item 475778	NM_032737.4(LMNB2):c.1698C>T (p.Asn566=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 2149190	NM_032737.4(LMNB2):c.1693G>C (p.Val565Leu)	LMNB2 (V565L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1024614	NM_032737.4(LMNB2):c.1687G>A (p.Val563Ile)	LMNB2 (V563I)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 740505	NM_032737.4(LMNB2):c.1686C>T (p.Thr562=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 845039	NM_032737.4(LMNB2):c.1682G>A (p.Arg561His)	LMNB2 (R561H)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 542434	NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu)	LMNB2 (R561L)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 644067	NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)	LMNB2 (R561C)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 2100666	NM_032737.4(LMNB2):c.1677C>G (p.Ser559Arg)	LMNB2 (S559R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 2205842	NM_032737.4(LMNB2):c.1667C>T (p.Thr556Met)	LMNB2 (T556M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2946924	NM_032737.4(LMNB2):c.1658G>T (p.Ser553Ile)	LMNB2 (S553I)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2628719	NM_032737.4(LMNB2):c.1648G>C (p.Gly550Arg)	LMNB2 (G550R)	Single nucleotide variant (missense variant)	LMNB2-related disorder	GUncertain significance
Select item 1389668	NM_032737.4(LMNB2):c.1634C>T (p.Thr545Met)	LMNB2 (T545M)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1088149	NM_032737.4(LMNB2):c.1632G>A (p.Ser544=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +1 more	GLikely benign
Select item 1518701	NM_032737.4(LMNB2):c.1631C>T (p.Ser544Leu)	LMNB2 (S544L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1582057	NM_032737.4(LMNB2):c.1629C>G (p.Pro543=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GBenign
Select item 1088110	NM_032737.4(LMNB2):c.1629C>T (p.Pro543=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +2 more	GLikely benign
Select item 2936550	NM_032737.4(LMNB2):c.1624C>T (p.Pro542Ser)	LMNB2 (P542S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1502401	NM_032737.4(LMNB2):c.1624C>A (p.Pro542Thr)	LMNB2 (P542T)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 2936041	NM_032737.4(LMNB2):c.1623C>A (p.Ser541Arg)	LMNB2 (S541R)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 1099687	NM_032737.4(LMNB2):c.1623C>T (p.Ser541=)	LMNB2	Single nucleotide variant (synonymous variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign
Select item 1040528	NM_032737.4(LMNB2):c.1618del (p.His540fs)	LMNB2 (H540fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy type 9 +1 more	GUncertain significance
Select item 1560818	NM_032737.4(LMNB2):c.1612G>C (p.Val538Leu)	LMNB2 (V538L)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy type 9 +1 more	GBenign
Select item 721580	NM_032737.4(LMNB2):c.1608G>A (p.Ala536=)	LMNB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy type 9 +2 more	GLikely benign
Select item 1624348	NM_032737.4(LMNB2):c.1607C>T (p.Ala536Val)	LMNB2 (A536V)	Single nucleotide variant (missense variant)	Lipodystrophy, partial, acquired, susceptibility to +1 more	GLikely benign

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