LOC126807136[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 273

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992997, LOC129992998 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 57341	GRCh38/hg38 4q25-26(chr4:112689224-113436470)x3	ANK2, LOC112935975 +11 more	Copy number gain	See cases	GUncertain significance
Select item 514572	NM_001148.6(ANK2):c.5160A>G (p.Gln1720=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3220982	NM_001148.6(ANK2):c.5165G>A (p.Ser1722Asn)	ANK2, LOC126807136 (S1644N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519430	NM_001148.6(ANK2):c.5166T>C (p.Ser1722=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2969431	NM_001148.6(ANK2):c.5173A>G (p.Lys1725Glu)	ANK2, LOC126807136 (K1647E +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2918933	NM_001148.6(ANK2):c.5182C>T (p.Leu1728Phe)	ANK2, LOC126807136 (L1775F +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 838463	NM_001148.6(ANK2):c.5201A>G (p.Glu1734Gly)	ANK2, LOC126807136 (E1734G +4 more)	Single nucleotide variant (missense variant +1 more)	ANK2-related condition +1 more	GUncertain significance
Select item 2052709	NM_001148.6(ANK2):c.5205G>A (p.Glu1735=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1436893	NM_001148.6(ANK2):c.5210T>C (p.Leu1737Ser)	ANK2, LOC126807136 (L1659S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 838819	NM_001148.6(ANK2):c.5213_5215del (p.Gly1738del)	ANK2, LOC126807136 (G1738del +4 more)	Deletion (inframe_deletion +1 more)	Long QT syndrome	GUncertain significance
Select item 1320351	NM_001148.6(ANK2):c.5213G>C (p.Gly1738Ala)	ANK2, LOC126807136 (G1660A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715567	NM_001148.6(ANK2):c.5227T>G (p.Leu1743Val)	ANK2, LOC126807136 (L1665V +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 522004	NM_001148.6(ANK2):c.5230G>A (p.Ala1744Thr)	ANK2, LOC126807136 (A1744T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 264303	NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)	ANK2, LOC126807136 (A1744D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 519210	NM_001148.6(ANK2):c.5234C>G (p.Pro1745Arg)	ANK2, LOC126807136 (P1745R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1104817	NM_001148.6(ANK2):c.5235T>C (p.Pro1745=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 263614	NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg)	LOC126807136, ANK2 (P1747R +4 more)	Single nucleotide variant (intron variant +1 more)	not provided +4 more	GLikely benign
Select item 1416396	NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile)	ANK2, LOC126807136 (T1672I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1806765	NM_001148.6(ANK2):c.5263T>A (p.Ser1755Thr)	LOC126807136, ANK2 (S1677T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2565320	NM_001148.6(ANK2):c.5266C>G (p.Pro1756Ala)	ANK2, LOC126807136 (P556A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1316517	NM_001148.6(ANK2):c.5281A>T (p.Thr1761Ser)	ANK2, LOC126807136 (T1683S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812760	NM_001148.6(ANK2):c.5283T>C (p.Thr1761=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1746594	NM_001148.6(ANK2):c.5286C>T (p.Pro1762=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1292229	NM_001148.6(ANK2):c.5300A>G (p.Lys1767Arg)	ANK2, LOC126807136 (K1689R +4 more)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1435674	NM_001148.6(ANK2):c.5305A>G (p.Lys1769Glu)	ANK2, LOC126807136 (K1691E +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 264575	NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 945073	NM_001148.6(ANK2):c.5314G>A (p.Ala1772Thr)	ANK2, LOC126807136 (A1772T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 902916	NM_001148.6(ANK2):c.5326C>G (p.Arg1776Gly)	ANK2, LOC126807136 (R1776G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 1200651	NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln)	ANK2, LOC126807136 (R1698Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 3220983	NM_001148.6(ANK2):c.5328A>C (p.Arg1776=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 347325	NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)	ANK2, LOC126807136 (V1777L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1492848	NM_001148.6(ANK2):c.5351G>A (p.Arg1784Gln)	ANK2, LOC126807136 (R1831Q +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1040690	NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro)	ANK2, LOC126807136 (R1706P +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 934909	NM_001148.6(ANK2):c.5365A>C (p.Ile1789Leu)	ANK2, LOC126807136 (I1789L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1747093	NM_001148.6(ANK2):c.5369G>A (p.Arg1790Lys)	ANK2, LOC126807136 (R1712K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 191536	NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile)	ANK2, LOC126807136 (V1791I +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GLikely benign
Select item 1093350	NM_001148.6(ANK2):c.5376A>G (p.Lys1792=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1317290	NM_001148.6(ANK2):c.5377_5378del (p.Gly1793fs)	ANK2, LOC126807136 (G1715fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2805349	NM_001148.6(ANK2):c.5382G>C (p.Lys1794Asn)	ANK2, LOC126807136 (K1716N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2565299	NM_001148.6(ANK2):c.5385G>T (p.Glu1795Asp)	ANK2, LOC126807136 (E1717D +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1607114	NM_001148.6(ANK2):c.5388C>T (p.Asp1796=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1006977	NM_001148.6(ANK2):c.5390T>C (p.Val1797Ala)	ANK2, LOC126807136 (V1719A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1100781	NM_001148.6(ANK2):c.5391G>A (p.Val1797=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1747322	NM_001148.6(ANK2):c.5403C>T (p.Thr1801=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 698015	NM_001148.6(ANK2):c.5403C>G (p.Thr1801=)	LOC126807136, ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1998200	NM_001148.6(ANK2):c.5406C>T (p.Thr1802=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2565311	NM_001148.6(ANK2):c.5409C>T (p.His1803=)	LOC126807136, ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1969777	NM_001148.6(ANK2):c.5424T>A (p.Ala1808=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 633037	NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)	ANK2, LOC126807136 (A1809V +4 more)	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1747469	NM_001148.6(ANK2):c.5427G>A (p.Ala1809=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1047560	NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser)	ANK2, LOC126807136 (P1811S +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1017362	NM_001148.6(ANK2):c.5431C>A (p.Pro1811Thr)	ANK2, LOC126807136 (P1733T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 457041	NM_001148.6(ANK2):c.5438T>C (p.Leu1813Pro)	ANK2, LOC126807136 (L1813P +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2590762	NM_001148.6(ANK2):c.5441A>C (p.Lys1814Thr)	ANK2, LOC126807136 (K1814T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2590771	NM_001148.6(ANK2):c.5442G>T (p.Lys1814Asn)	ANK2, LOC126807136 (K1814N +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1432333	NM_001148.6(ANK2):c.5454T>G (p.His1818Gln)	ANK2, LOC126807136 (H618Q +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 902917	NM_001148.6(ANK2):c.5456C>T (p.Ala1819Val)	ANK2, LOC126807136 (A1819V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 457042	NM_001148.6(ANK2):c.5457G>A (p.Ala1819=)	LOC126807136, ANK2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 949439	NM_001148.6(ANK2):c.5461G>A (p.Gly1821Arg)	ANK2, LOC126807136 (G1821R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1107588	NM_001148.6(ANK2):c.5463G>A (p.Gly1821=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 257580	NM_001148.6(ANK2):c.5469C>T (p.Pro1823=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 67608	NM_001148.6(ANK2):c.5470T>C (p.Ser1824Pro)	ANK2, LOC126807136 (S1824P +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1747755	NM_001148.6(ANK2):c.5473C>T (p.Pro1825Ser)	ANK2, LOC126807136 (P1864S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2828350	NM_001148.6(ANK2):c.5484A>G (p.Glu1828=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1747823	NM_001148.6(ANK2):c.5486G>A (p.Arg1829Lys)	ANK2, LOC126807136 (R1829K +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1747831	NM_001148.6(ANK2):c.5489A>G (p.His1830Arg)	ANK2, LOC126807136 (H1830R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2153726	NM_001148.6(ANK2):c.5490C>T (p.His1830=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 3119485	NM_001148.6(ANK2):c.5491T>G (p.Ser1831Ala)	ANK2, LOC126807136 (S1870A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1318871	NM_001148.6(ANK2):c.5492C>T (p.Ser1831Phe)	ANK2, LOC126807136 (S1753F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 526991	NM_001148.6(ANK2):c.5495C>T (p.Thr1832Ile)	ANK2, LOC126807136 (T1832I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1025549	NM_001148.6(ANK2):c.5497C>T (p.Leu1833Phe)	ANK2, LOC126807136 (L1755F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 652097	NM_001148.6(ANK2):c.5497C>G (p.Leu1833Val)	ANK2, LOC126807136 (L1833V +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1384168	NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys)	ANK2, LOC126807136 (S1758C +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1144677	NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 222498	NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)	ANK2, LOC126807136 (A1837T +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 642528	NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)	ANK2, LOC126807136 (T1839P +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 2450641	NM_001148.6(ANK2):c.5517T>G (p.Thr1839=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2029629	NM_001148.6(ANK2):c.5517T>A (p.Thr1839=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 457043	NM_001148.6(ANK2):c.5523G>A (p.Arg1841=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome +1 more	GLikely benign
Select item 1088717	NM_001148.6(ANK2):c.5541A>G (p.Pro1847=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 943640	NM_001148.6(ANK2):c.5542T>G (p.Ser1848Ala)	ANK2, LOC126807136 (S1848A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1019570	NM_001148.6(ANK2):c.5571_5642del (p.Ala1861_Ser1884del)	ANK2, LOC126807136	Deletion (inframe_deletion +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 2505797	NM_001148.6(ANK2):c.5552C>T (p.Thr1851Ile)	ANK2, LOC126807136 (T1773I +4 more)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 1806567	NM_001148.6(ANK2):c.5566C>T (p.Pro1856Ser)	ANK2, LOC126807136 (P1778S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 406489	NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)	ANK2, LOC126807136 (V1857E +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1045442	NM_001148.6(ANK2):c.5575C>A (p.Pro1859Thr)	ANK2, LOC126807136 (P1781T +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 1145677	NM_001148.6(ANK2):c.5577C>T (p.Pro1859=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1403797	NM_001148.6(ANK2):c.5581G>A (p.Ala1861Thr)	ANK2, LOC126807136 (A1783T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 658634	NM_001148.6(ANK2):c.5582C>T (p.Ala1861Val)	ANK2, LOC126807136 (A1861V +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 809666	NM_001148.6(ANK2):c.5588C>T (p.Thr1863Met)	ANK2, LOC126807136 (T1863M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2565314	NM_001148.6(ANK2):c.5589G>A (p.Thr1863=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1748507	NM_001148.6(ANK2):c.5595A>T (p.Arg1865Ser)	ANK2, LOC126807136 (R665S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1009910	NM_001148.6(ANK2):c.5597A>T (p.His1866Leu)	ANK2, LOC126807136 (H1788L +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 457044	NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala)	ANK2, LOC126807136 (S1867A +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 2724226	NM_001148.6(ANK2):c.5603C>G (p.Pro1868Arg)	ANK2, LOC126807136 (P1868R +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2033555	NM_001148.6(ANK2):c.5604T>G (p.Pro1868=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 1904645	NM_001148.6(ANK2):c.5606C>T (p.Ala1869Val)	ANK2, LOC126807136 (A1791V +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GUncertain significance

<< First< Prev

Page of 3