SCN3A[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1694

<< First< Prev

Page of 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 148507	GRCh38/hg38 2q24.3(chr2:163419387-165682938)x1	COBLL1, CSRNP3 +26 more	Copy number loss	See cases	GLikely pathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153729	GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3	CSRNP3, GALNT3 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	CSRNP3, GALNT3 +17 more	Deletion	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	LOC129935046, LOC129935047 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 533507	NC_000002.11:g.(?_165946640)_(166246354_?)dup	LOC120977013, LOC129935043 +2 more	Duplication	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	CSRNP3, GALNT3 +17 more	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GPathogenic
Select item 584355	NC_000002.11:g.(?_165946660)_(166246334_?)dup	LOC120977013, LOC129935043 +2 more	Duplication	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 2902159	NM_006922.4(SCN3A):c.6000G>A (p.Lys2000=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968485	NM_006922.4(SCN3A):c.5998A>C (p.Lys2000Gln)	SCN3A (K1951Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 665545	NM_006922.4(SCN3A):c.5998A>G (p.Lys2000Glu)	SCN3A (K1951E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800264	NM_006922.4(SCN3A):c.5997A>C (p.Gln1999His)	SCN3A (Q1950H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 403874	NM_006922.4(SCN3A):c.5996A>C (p.Gln1999Pro)	SCN3A (Q1999P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520898	NM_006922.4(SCN3A):c.5993A>G (p.Asn1998Ser)	SCN3A (N1949S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413097	NM_006922.4(SCN3A):c.5989G>T (p.Glu1997Ter)	SCN3A (E1948* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1429785	NM_006922.4(SCN3A):c.5987G>C (p.Arg1996Thr)	SCN3A (R1947T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720758	NM_006922.4(SCN3A):c.5984T>A (p.Val1995Asp)	SCN3A (V1946D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331216	NM_006922.4(SCN3A):c.5983G>A (p.Val1995Ile)	SCN3A (V1946I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720543	NM_006922.4(SCN3A):c.5975G>T (p.Gly1992Val)	SCN3A (G1943V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446096	NM_006922.4(SCN3A):c.5970C>G (p.Ser1990Arg)	SCN3A (S1941R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977509	NM_006922.4(SCN3A):c.5968A>G (p.Ser1990Gly)	SCN3A (S1941G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161211	NM_006922.4(SCN3A):c.5965G>A (p.Glu1989Lys)	SCN3A (E1940K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 863826	NM_006922.4(SCN3A):c.5956C>A (p.Pro1986Thr)	SCN3A (P1986T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498232	NM_006922.4(SCN3A):c.5952C>T (p.Asp1984=)	SCN3A	Single nucleotide variant (synonymous variant)	SCN3A-related condition +2 more	GBenign/Likely benign
Select item 1110316	NM_006922.4(SCN3A):c.5949A>G (p.Lys1983=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339140	NM_006922.4(SCN3A):c.5947A>C (p.Lys1983Gln)	SCN3A (K1934Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GUncertain significance
Select item 1063741	NM_006922.4(SCN3A):c.5947A>G (p.Lys1983Glu)	SCN3A (K1934E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565319	NM_006922.4(SCN3A):c.5940G>A (p.Lys1980=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100233	NM_006922.4(SCN3A):c.5935G>A (p.Glu1979Lys)	SCN3A (E1979K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396447	NM_006922.4(SCN3A):c.5929G>C (p.Asp1977His)	SCN3A (D1977H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777605	NM_006922.4(SCN3A):c.5925dup (p.Pro1976fs)	SCN3A (P1927fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2090092	NM_006922.4(SCN3A):c.5926C>T (p.Pro1976Ser)	SCN3A (P1927S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095832	NM_006922.4(SCN3A):c.5919A>G (p.Val1973=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038401	NM_006922.4(SCN3A):c.5916T>C (p.Ser1972=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142826	NM_006922.4(SCN3A):c.5911G>C (p.Asp1971His)	SCN3A (D1922H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288551	NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1470293	NM_006922.4(SCN3A):c.5888C>T (p.Ser1963Phe)	SCN3A (S1963F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004238	NM_006922.4(SCN3A):c.5882G>A (p.Ser1961Asn)	SCN3A (S1912N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431902	NM_006922.4(SCN3A):c.5881A>T (p.Ser1961Cys)	SCN3A (S1961C +1 more)	Single nucleotide variant (missense variant)	Epilepsy, familial focal, with variable foci 4 +1 more	GUncertain significance
Select item 1143580	NM_006922.4(SCN3A):c.5880G>A (p.Gly1960=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2435699	NM_006922.4(SCN3A):c.5878G>A (p.Gly1960Arg)	SCN3A (G1911R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708711	NM_006922.4(SCN3A):c.5873C>G (p.Thr1958Arg)	SCN3A (T1909R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179102	NM_006922.4(SCN3A):c.5867A>G (p.Glu1956Gly)	SCN3A (E1907G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 936975	NM_006922.4(SCN3A):c.5863C>T (p.Pro1955Ser)	SCN3A (P1955S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767772	NM_006922.4(SCN3A):c.5862T>C (p.Thr1954=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 412600	NM_006922.4(SCN3A):c.5859C>T (p.Ser1953=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3017384	NM_006922.4(SCN3A):c.5856C>T (p.Asn1952=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580787	NM_006922.4(SCN3A):c.5852G>A (p.Gly1951Glu)	SCN3A (G1902E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1132094	NM_006922.4(SCN3A):c.5845C>T (p.Leu1949=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1144696	NM_006922.4(SCN3A):c.5843A>C (p.Lys1948Thr)	SCN3A (K1899T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 702410	NM_006922.4(SCN3A):c.5841C>T (p.Asp1947=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732119	NM_006922.4(SCN3A):c.5837T>C (p.Ile1946Thr)	SCN3A (I1897T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819697	NM_006922.4(SCN3A):c.5834T>G (p.Ile1945Ser)	SCN3A (I1896S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307404	NM_006922.4(SCN3A):c.5834T>C (p.Ile1945Thr)	SCN3A (I1896T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363543	NM_006922.4(SCN3A):c.5831T>C (p.Met1944Thr)	SCN3A (M1944T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289275	NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg)	SCN3A (Q1942R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2891396	NM_006922.4(SCN3A):c.5824C>G (p.Gln1942Glu)	SCN3A (Q1893E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140311	NM_006922.4(SCN3A):c.5818A>G (p.Ile1940Val)	SCN3A (I1891V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331297	NM_006922.4(SCN3A):c.5813T>C (p.Leu1938Ser)	SCN3A (L1889S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865005	NM_006922.4(SCN3A):c.5811C>T (p.Asp1937=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377561	NM_006922.4(SCN3A):c.5809G>T (p.Asp1937Tyr)	SCN3A (D1888Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607967	NM_006922.4(SCN3A):c.5801G>A (p.Gly1934Glu)	SCN3A (G1885E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675800	NM_006922.4(SCN3A):c.5800G>A (p.Gly1934Arg)	SCN3A (G1885R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057683	NM_006922.4(SCN3A):c.5797A>T (p.Lys1933Ter)	SCN3A (K1933* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1806724	NM_006922.4(SCN3A):c.5792C>T (p.Ala1931Val)	SCN3A (A1882V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035940	NM_006922.4(SCN3A):c.5791G>A (p.Ala1931Thr)	SCN3A (A1931T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403126	NM_006922.4(SCN3A):c.5789A>G (p.Glu1930Gly)	SCN3A (E1930G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811286	NM_006922.4(SCN3A):c.5787A>G (p.Lys1929=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1023400	NM_006922.4(SCN3A):c.5784C>A (p.Asn1928Lys)	SCN3A (N1879K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189106	NM_006922.4(SCN3A):c.5781T>C (p.Tyr1927=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946323	NM_006922.4(SCN3A):c.5778C>G (p.Asn1926Lys)	SCN3A (N1877K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 662730	NM_006922.4(SCN3A):c.5774G>A (p.Ser1925Asn)	SCN3A (S1876N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002168	NM_006922.4(SCN3A):c.5773A>G (p.Ser1925Gly)	SCN3A (S1876G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950671	NM_006922.4(SCN3A):c.5768T>C (p.Ile1923Thr)	SCN3A (I1874T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1124321	NM_006922.4(SCN3A):c.5760A>G (p.Leu1920=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412488	NM_006922.4(SCN3A):c.5755A>T (p.Arg1919Trp)	SCN3A (R1870W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361347	NM_006922.4(SCN3A):c.5755A>G (p.Arg1919Gly)	SCN3A (R1919G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571091	NM_006922.4(SCN3A):c.5741_5743delinsTTT (p.Tyr1914_Leu1915delinsPhePhe)	SCN3A	Indel (missense variant)	not provided	GUncertain significance
Select item 2716688	NM_006922.4(SCN3A):c.5739T>C (p.Cys1913=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675128	NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=)	SCN3A	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 1368855	NM_006922.4(SCN3A):c.5726G>T (p.Arg1909Leu)	SCN3A (R1860L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059130	NM_006922.4(SCN3A):c.5726G>A (p.Arg1909His)	SCN3A (R1860H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 652912	NM_006922.4(SCN3A):c.5725C>T (p.Arg1909Cys)	SCN3A (R1909C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 661987	NM_006922.4(SCN3A):c.5713G>A (p.Ala1905Thr)	SCN3A (A1856T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2962192	NM_006922.4(SCN3A):c.5711C>T (p.Ala1904Val)	SCN3A (A1904V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385153	NM_006922.4(SCN3A):c.5707T>A (p.Ser1903Thr)	SCN3A (S1854T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840057	NM_006922.4(SCN3A):c.5702A>G (p.Glu1901Gly)	SCN3A (E1852G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026928	NM_006922.4(SCN3A):c.5701G>A (p.Glu1901Lys)	SCN3A (E1852K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095136	NM_006922.4(SCN3A):c.5700G>A (p.Glu1900=)	SCN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805386	NM_006922.4(SCN3A):c.5699A>G (p.Glu1900Gly)	SCN3A (E1851G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206641	NM_006922.4(SCN3A):c.5696A>T (p.Gln1899Leu)	SCN3A (Q1850L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 654817	NM_006922.4(SCN3A):c.5690G>A (p.Arg1897His)	SCN3A (R1848H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 17