11280[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 665052	NC_000003.12:g.(?_37452365)_(38950372_?)del	CTDSPL, DLEC1 +51 more	Deletion	Brugada syndrome	GPathogenic
Select item 1273152	NM_001349253.2(SCN11A):c.*215A>T	SCN11A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178114	NM_001349253.2(SCN11A):c.*164A>G	SCN11A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1201052	NM_001349253.2(SCN11A):c.*100C>A	SCN11A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2951554	NM_001349253.2(SCN11A):c.5371G>C (p.Asp1791His)	SCN11A (D1791H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1402950	NM_001349253.2(SCN11A):c.5368T>C (p.Cys1790Arg)	SCN11A (C1790R)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 2942969	NM_001349253.2(SCN11A):c.5366A>G (p.His1789Arg)	SCN11A (H1789R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 474749	NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu)	SCN11A (K1787E)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GConflicting classifications of pathogenicity
Select item 1058787	NM_001349253.2(SCN11A):c.5358C>T (p.Gly1786=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 1747031	NM_001349253.2(SCN11A):c.5357G>A (p.Gly1786Asp)	SCN11A (G1786D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1100366	NM_001349253.2(SCN11A):c.5346G>A (p.Gly1782=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2953021	NM_001349253.2(SCN11A):c.5341T>A (p.Phe1781Ile)	SCN11A (F1781I)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 474748	NM_001349253.2(SCN11A):c.5334G>A (p.Leu1778=)	SCN11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2949801	NM_001349253.2(SCN11A):c.5326G>C (p.Gly1776Arg)	SCN11A (G1776R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2946220	NM_001349253.2(SCN11A):c.5319_5320del (p.Cys1774fs)	SCN11A (C1774fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2935086	NM_001349253.2(SCN11A):c.5320T>C (p.Cys1774Arg)	SCN11A (C1774R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 541558	NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg)	SCN11A (Q1771R)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GUncertain significance
Select item 2142189	NM_001349253.2(SCN11A):c.5311C>T (p.Gln1771Ter)	SCN11A (Q1771*)	Single nucleotide variant (nonsense)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2941732	NM_001349253.2(SCN11A):c.5309T>C (p.Leu1770Pro)	SCN11A (L1770P)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 641428	NM_001349253.2(SCN11A):c.5306C>T (p.Pro1769Leu)	SCN11A (P1769L)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2557053	NM_001349253.2(SCN11A):c.5299C>T (p.His1767Tyr)	SCN11A (H1767Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763550	NM_001349253.2(SCN11A):c.5292C>T (p.Asn1764=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2941264	NM_001349253.2(SCN11A):c.5282A>C (p.Asp1761Ala)	SCN11A (D1761A)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1718213	NM_001349253.2(SCN11A):c.5282A>G (p.Asp1761Gly)	SCN11A (D1761G)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 703369	NM_001349253.2(SCN11A):c.5280T>A (p.Asn1760Lys)	SCN11A (N1760K)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GBenign/Likely benign
Select item 2080654	NM_001349253.2(SCN11A):c.5279A>G (p.Asn1760Ser)	SCN11A (N1760S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2093875	NM_001349253.2(SCN11A):c.5277A>G (p.Gln1759=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 474747	NM_001349253.2(SCN11A):c.5261_5270dup (p.Gly1757_Asp1758insTer)	SCN11A	Microsatellite (nonsense +1 more)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 999954	NM_001349253.2(SCN11A):c.5266C>G (p.Gln1756Glu)	SCN11A (Q1756E)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 641460	NM_001349253.2(SCN11A):c.5242A>G (p.Met1748Val)	SCN11A (M1748V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1581795	NM_001349253.2(SCN11A):c.5238G>A (p.Lys1746=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 938736	NM_001349253.2(SCN11A):c.5234G>A (p.Arg1745Gln)	SCN11A (R1745Q)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 956120	NM_001349253.2(SCN11A):c.5233C>T (p.Arg1745Ter)	SCN11A (R1745*)	Single nucleotide variant (nonsense)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 1357356	NM_001349253.2(SCN11A):c.5232T>G (p.Phe1744Leu)	SCN11A (F1744L)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 474746	NM_001349253.2(SCN11A):c.5229C>G (p.Ala1743=)	SCN11A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1402599	NM_001349253.2(SCN11A):c.5227del (p.Ala1743fs)	SCN11A (A1743fs)	Deletion (frameshift variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 1402600	NM_001349253.2(SCN11A):c.5225A>T (p.Lys1742Met)	SCN11A (K1742M)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 541583	NM_001349253.2(SCN11A):c.5215A>G (p.Ile1739Val)	SCN11A (I1739V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1746114	NM_001349253.2(SCN11A):c.5209GCT[1] (p.Ala1738del)	SCN11A (A1738del)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2044969	NM_001349253.2(SCN11A):c.5212G>T (p.Ala1738Ser)	SCN11A (A1738S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 474745	NM_001349253.2(SCN11A):c.5207G>T (p.Gly1736Val)	SCN11A (G1736V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 998947	NM_001349253.2(SCN11A):c.5206G>A (p.Gly1736Ser)	SCN11A (G1736S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2682227	NM_001349253.2(SCN11A):c.5201A>G (p.Glu1734Gly)	SCN11A (E1734G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2144936	NM_001349253.2(SCN11A):c.5184C>T (p.Thr1728=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 1976202	NM_001349253.2(SCN11A):c.5169_5181del (p.Ile1724fs)	SCN11A (I1724fs)	Deletion (frameshift variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1984026	NM_001349253.2(SCN11A):c.5170A>G (p.Ile1724Val)	SCN11A (I1724V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 474744	NM_001349253.2(SCN11A):c.5169C>T (p.Pro1723=)	SCN11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2582144	NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys)	SCN11A (Y1721C)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +3 more	GUncertain significance
Select item 1601838	NM_001349253.2(SCN11A):c.5154G>A (p.Lys1718=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 951076	NM_001349253.2(SCN11A):c.5147C>G (p.Pro1716Arg)	SCN11A (P1716R)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2614204	NM_001349253.2(SCN11A):c.5144_5146delinsTAGTTGTATGAACTCTATGAA (p.Asn1715_Pro1716delinsIleValValTer)	SCN11A	Indel (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2195597	NM_001349253.2(SCN11A):c.5145T>C (p.Asn1715=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GLikely benign
Select item 581267	NM_001349253.2(SCN11A):c.5135T>C (p.Met1712Thr)	SCN11A (M1712T)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 541554	NM_001349253.2(SCN11A):c.5127_5128dup (p.Lys1710fs)	SCN11A (K1710fs)	Microsatellite (frameshift variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 703232	NM_001349253.2(SCN11A):c.5124A>G (p.Glu1708=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GLikely benign
Select item 1017963	NM_001349253.2(SCN11A):c.5116A>G (p.Met1706Val)	SCN11A (M1706V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 1373139	NM_001349253.2(SCN11A):c.5114C>A (p.Ala1705Glu)	SCN11A (A1705E)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2171366	NM_001349253.2(SCN11A):c.5110A>G (p.Lys1704Glu)	SCN11A (K1704E)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1058076	NM_001349253.2(SCN11A):c.5108T>A (p.Met1703Lys)	SCN11A (M1703K)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GUncertain significance
Select item 852134	NM_001349253.2(SCN11A):c.5107A>G (p.Met1703Val)	SCN11A (M1703V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2483105	NM_001349253.2(SCN11A):c.5105G>A (p.Ser1702Asn)	SCN11A (S1702N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069738	NM_001349253.2(SCN11A):c.5101G>T (p.Asp1701Tyr)	SCN11A (D1701Y)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 2935383	NM_001349253.2(SCN11A):c.5094T>C (p.Asp1698=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 3438182	NM_001349253.2(SCN11A):c.5087G>C (p.Gly1696Ala)	SCN11A (G1696A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440843	NM_001349253.2(SCN11A):c.5087G>A (p.Gly1696Asp)	SCN11A (G1696D)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 541574	NM_001349253.2(SCN11A):c.5086G>A (p.Gly1696Ser)	SCN11A (G1696S)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GLikely benign
Select item 641838	NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp)	SCN11A (G1695D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 567946	NM_001349253.2(SCN11A):c.5083G>A (p.Gly1695Ser)	SCN11A (G1695S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 1596722	NM_001349253.2(SCN11A):c.5079A>C (p.Val1693=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 1393812	NM_001349253.2(SCN11A):c.5077G>T (p.Val1693Leu)	SCN11A (V1693L)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1023035	NM_001349253.2(SCN11A):c.5075G>T (p.Arg1692Met)	SCN11A (R1692M)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 582919	NM_001349253.2(SCN11A):c.5071G>A (p.Ala1691Thr)	SCN11A (A1691T)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1113093	NM_001349253.2(SCN11A):c.5070C>T (p.Thr1690=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 474743	NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)	SCN11A (F1689L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 474742	NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val)	SCN11A (A1688V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2927704	NM_001349253.2(SCN11A):c.5062G>T (p.Ala1688Ser)	SCN11A (A1688S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1745116	NM_001349253.2(SCN11A):c.5062G>A (p.Ala1688Thr)	SCN11A (A1688T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 474741	NM_001349253.2(SCN11A):c.5061C>T (p.Phe1687=)	SCN11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2186937	NM_001349253.2(SCN11A):c.5053A>G (p.Ile1685Val)	SCN11A (I1685V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 972941	NM_001349253.2(SCN11A):c.5051A>T (p.Asp1684Val)	SCN11A (D1684V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 858944	NM_001349253.2(SCN11A):c.5046C>T (p.Cys1682=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2009061	NM_001349253.2(SCN11A):c.5041C>T (p.His1681Tyr)	SCN11A (H1681Y)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly lower limb involvement +1 more	GUncertain significance
Select item 474740	NM_001349253.2(SCN11A):c.5037C>T (p.Arg1679=)	SCN11A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 641532	NM_001349253.2(SCN11A):c.5036G>A (p.Arg1679His)	SCN11A (R1679H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1362091	NM_001349253.2(SCN11A):c.5035C>T (p.Arg1679Cys)	SCN11A (R1679C)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 2467060	NM_001349253.2(SCN11A):c.5022G>A (p.Met1674Ile)	SCN11A (M1674I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2931610	NM_001349253.2(SCN11A):c.5020A>G (p.Met1674Val)	SCN11A (M1674V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1744790	NM_001349253.2(SCN11A):c.5017C>G (p.Pro1673Ala)	SCN11A (P1673A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 648557	NM_001349253.2(SCN11A):c.5015T>C (p.Leu1672Ser)	SCN11A (L1672S)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1124130	NM_001349253.2(SCN11A):c.5013C>T (p.Asp1671=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 759108	NM_001349253.2(SCN11A):c.5007A>G (p.Val1669=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 1536794	NM_001349253.2(SCN11A):c.4998A>G (p.Gln1666=)	SCN11A	Single nucleotide variant (synonymous variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GLikely benign
Select item 2038430	NM_001349253.2(SCN11A):c.4990A>G (p.Lys1664Glu)	SCN11A (K1664E)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +1 more	GUncertain significance
Select item 1744546	NM_001349253.2(SCN11A):c.4985C>T (p.Pro1662Leu)	SCN11A (P1662L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1014224	NM_001349253.2(SCN11A):c.4978G>A (p.Ala1660Thr)	SCN11A (A1660T)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GConflicting classifications of pathogenicity
Select item 474739	NM_001349253.2(SCN11A):c.4977C>T (p.Val1659=)	SCN11A	Single nucleotide variant (synonymous variant)	Familial episodic pain syndrome with predominantly lower limb involvement +3 more	GLikely benign
Select item 3045939	NM_001349253.2(SCN11A):c.4974T>A (p.Arg1658=)	SCN11A	Single nucleotide variant (synonymous variant)	SCN11A-related disorder	GLikely benign

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