SCN4A[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1198661	NM_000334.4(SCN4A):c.2019+188C>T	SCN4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642142	NM_000334.4(SCN4A):c.2019+13C>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 3052876	NM_000334.4(SCN4A):c.2019+10A>C	SCN4A	Single nucleotide variant (intron variant)	SCN4A-related disorder	GLikely benign
Select item 1140806	NM_000334.4(SCN4A):c.2019+10del	SCN4A	Deletion (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 644610	NM_000334.4(SCN4A):c.2019+8A>G	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 477402	NM_000334.4(SCN4A):c.2019+5A>G	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 692293	NM_000334.4(SCN4A):c.2018T>C (p.Leu673Pro)	SCN4A (L673P)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GLikely pathogenic
Select item 2580953	NM_000334.4(SCN4A):c.2017C>G (p.Leu673Val)	SCN4A (L673V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +1 more	GUncertain significance
Select item 744504	NM_000334.4(SCN4A):c.2016T>C (p.Arg672=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 5912	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A (R672H)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GConflicting classifications of pathogenicity
Select item 21151	NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	SCN4A (R672C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 5916	NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)	SCN4A (R672S)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 5913	NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SCN4A (R672G)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GPathogenic
Select item 931479	NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)	SCN4A (F671C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GLikely pathogenic
Select item 391923	NM_000334.4(SCN4A):c.2011T>C (p.Phe671Leu)	SCN4A (F671L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2792755	NM_000334.4(SCN4A):c.2010C>A (p.Ser670=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1458757	NM_000334.4(SCN4A):c.2010C>T (p.Ser670=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2896596	NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)	SCN4A	Indel (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 617484	NM_000334.4(SCN4A):c.2009C>A (p.Ser670Tyr)	SCN4A (S670Y)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia	GPathogenic
Select item 5911	NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	SCN4A (R669H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 843445	NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys)	SCN4A (R669C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GLikely pathogenic
Select item 420227	NM_000334.4(SCN4A):c.1996_2001dup (p.Ser666_Val667dup)	SCN4A	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 2075878	NM_000334.4(SCN4A):c.2001G>A (p.Val667=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1359091	NM_000334.4(SCN4A):c.1999G>A (p.Val667Met)	SCN4A (V667M)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 2028195	NM_000334.4(SCN4A):c.1995G>A (p.Leu665=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 725396	NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)	SCN4A	Single nucleotide variant (synonymous variant)	Paramyotonia congenita of Von Eulenburg +4 more	GConflicting classifications of pathogenicity
Select item 1702769	NM_000334.4(SCN4A):c.1988A>G (p.Gln663Arg)	SCN4A (Q663R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989197	NM_000334.4(SCN4A):c.1986A>C (p.Val662=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1053551	NM_000334.4(SCN4A):c.1984G>A (p.Val662Ile)	SCN4A (V662I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1930180	NM_000334.4(SCN4A):c.1983C>A (p.Asn661Lys)	SCN4A (N661K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 740016	NM_000334.4(SCN4A):c.1983C>T (p.Asn661=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 639647	NM_000334.4(SCN4A):c.1981A>G (p.Asn661Asp)	SCN4A (N661D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 543818	NM_000334.4(SCN4A):c.1975C>T (p.Leu659=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 643164	NM_000334.4(SCN4A):c.1974C>T (p.Gly658=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1595965	NM_000334.4(SCN4A):c.1947C>A (p.Ile649=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 387494	NM_000334.4(SCN4A):c.1947C>T (p.Ile649=)	SCN4A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 591813	NM_000334.4(SCN4A):c.1946T>C (p.Ile649Thr)	SCN4A (I649T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026615	NM_000334.4(SCN4A):c.1945A>G (p.Ile649Val)	SCN4A (I649V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2328866	NM_000334.4(SCN4A):c.1943T>C (p.Ile648Thr)	SCN4A (I648T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448264	NM_000334.4(SCN4A):c.1935C>T (p.Phe645=)	SCN4A	Single nucleotide variant (synonymous variant)	Potassium-aggravated myotonia +6 more	GBenign/Likely benign
Select item 1613748	NM_000334.4(SCN4A):c.1929T>C (p.Asn643=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 575671	NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys)	SCN4A (W642C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1980672	NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)	SCN4A (W642*)	Single nucleotide variant (nonsense)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 543825	NM_000334.4(SCN4A):c.1923T>C (p.Gly641=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis +5 more	GBenign/Likely benign
Select item 1352586	NM_000334.4(SCN4A):c.1922G>A (p.Gly641Asp)	SCN4A (G641D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435717	NM_000334.4(SCN4A):c.1921G>A (p.Gly641Ser)	SCN4A (G641S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 859712	NM_000334.4(SCN4A):c.1917G>T (p.Gln639His)	SCN4A (Q639H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2067127	NM_000334.4(SCN4A):c.1906G>A (p.Glu636Lys)	SCN4A (E636K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 2017990	NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)	SCN4A (Y635*)	Single nucleotide variant (nonsense)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 794230	NM_000334.4(SCN4A):c.1905C>T (p.Tyr635=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2908506	NM_000334.4(SCN4A):c.1903T>G (p.Tyr635Asp)	SCN4A (Y635D)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 586505	NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)	SCN4A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2002940	NM_000334.4(SCN4A):c.1900C>G (p.Pro634Ala)	SCN4A (P634A)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2745703	NM_000334.4(SCN4A):c.1897G>A (p.Asp633Asn)	SCN4A (D633N)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 543800	NM_000334.4(SCN4A):c.1895T>C (p.Met632Thr)	SCN4A (M632T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1516616	NM_000334.4(SCN4A):c.1894A>G (p.Met632Val)	SCN4A (M632V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 859327	NM_000334.4(SCN4A):c.1876G>T (p.Val626Phe)	SCN4A (V626F)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1401147	NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr)	SCN4A (M625T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +5 more	GUncertain significance
Select item 1474599	NM_000334.4(SCN4A):c.1873A>C (p.Met625Leu)	SCN4A (M625L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 3019674	NM_000334.4(SCN4A):c.1868C>T (p.Ala623Val)	SCN4A (A623V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1918175	NM_000334.4(SCN4A):c.1862T>A (p.Phe621Tyr)	SCN4A (F621Y)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2035400	NM_000334.4(SCN4A):c.1848C>A (p.Val616=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 703776	NM_000334.4(SCN4A):c.1846-6C>A	SCN4A	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1998986	NM_000334.4(SCN4A):c.1846-19G>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1212269	NM_000334.4(SCN4A):c.1846-275C>T	SCN4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283774	NM_000334.4(SCN4A):c.1845+319G>C	SCN4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296139	NM_000334.4(SCN4A):c.1845+166del	SCN4A	Deletion (intron variant)	not provided	GBenign
Select item 678979	NM_000334.4(SCN4A):c.1845+57C>T	SCN4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605757	NM_000334.4(SCN4A):c.1845+18A>C	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1549486	NM_000334.4(SCN4A):c.1845+18A>T	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis +6 more	GLikely benign
Select item 1272025	NM_000334.4(SCN4A):c.1845+18A>G	SCN4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2118228	NM_000334.4(SCN4A):c.1845+17G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2043685	NM_000334.4(SCN4A):c.1845+16G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 2835201	NM_000334.4(SCN4A):c.1845+14G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 1664800	NM_000334.4(SCN4A):c.1845+12del	SCN4A	Deletion (intron variant)	Potassium-aggravated myotonia +5 more	GLikely benign
Select item 1238333	NM_000334.4(SCN4A):c.1845+12C>G	SCN4A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1664801	NM_000334.4(SCN4A):c.1845+11G>T	SCN4A	Single nucleotide variant (intron variant)	Potassium-aggravated myotonia +5 more	GLikely benign
Select item 324536	NM_000334.4(SCN4A):c.1845+7A>C	SCN4A	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 16 +4 more	GConflicting classifications of pathogenicity
Select item 193809	NM_000334.4(SCN4A):c.1845+7A>G	SCN4A	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 944856	NM_000334.4(SCN4A):c.1845+4G>A	SCN4A	Single nucleotide variant (intron variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1205952	NM_000334.4(SCN4A):c.1845+3A>G	SCN4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897720	NM_000334.4(SCN4A):c.1843C>G (p.Leu615Val)	SCN4A (L615V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 935726	NM_000334.4(SCN4A):c.1843C>A (p.Leu615Met)	SCN4A (L615M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2867637	NM_000334.4(SCN4A):c.1836G>A (p.Val612=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2912466	NM_000334.4(SCN4A):c.1835T>C (p.Val612Ala)	SCN4A (V612A)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 426575	NM_000334.4(SCN4A):c.1835T>A (p.Val612Glu)	SCN4A (V612E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 656888	NM_000334.4(SCN4A):c.1832C>T (p.Thr611Ile)	SCN4A (T611I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2078335	NM_000334.4(SCN4A):c.1825G>T (p.Val609Leu)	SCN4A (V609L)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 2104061	NM_000334.4(SCN4A):c.1824C>T (p.Asn608=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2995738	NM_000334.4(SCN4A):c.1814A>C (p.His605Pro)	SCN4A (H605P)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1371513	NM_000334.4(SCN4A):c.1814A>G (p.His605Arg)	SCN4A (H605R)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 1368980	NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr)	SCN4A (H605Y)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +5 more	GUncertain significance
Select item 1046180	NM_000334.4(SCN4A):c.1811A>T (p.Glu604Val)	SCN4A (E604V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance
Select item 2417638	NM_000334.4(SCN4A):c.1809G>A (p.Thr603=)	SCN4A	Single nucleotide variant (synonymous variant)	Familial hyperkalemic periodic paralysis	GLikely benign
Select item 647124	NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg)	SCN4A (T603R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GUncertain significance
Select item 1420693	NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter)	SCN4A (Y600*)	Single nucleotide variant (nonsense)	Familial hyperkalemic periodic paralysis	GPathogenic
Select item 448263	NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=)	SCN4A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 324537	NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	SCN4A (H599R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 16 +5 more	GConflicting classifications of pathogenicity
Select item 1329682	NM_000334.4(SCN4A):c.1791G>A (p.Met597Ile)	SCN4A (M597I)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 1442297	NM_000334.4(SCN4A):c.1790T>C (p.Met597Thr)	SCN4A (M597T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GUncertain significance

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