CACNA1F[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1466063	NM_001256789.3(CACNA1F):c.5897T>G (p.Leu1966Arg)	CACNA1F (L1966R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090194	NM_001256789.3(CACNA1F):c.5893G>A (p.Ala1965Thr)	CACNA1F (A1965T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552568	NM_001256789.3(CACNA1F):c.5892C>T (p.His1964=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792690	NM_001256789.3(CACNA1F):c.5887G>A (p.Val1963Ile)	CACNA1F (V1963I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963738	NM_001256789.3(CACNA1F):c.5886C>T (p.Cys1962=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961526	NM_001256789.3(CACNA1F):c.5874C>G (p.Asp1958Glu)	CACNA1F (D1958E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1136539	NM_001256789.3(CACNA1F):c.5874C>T (p.Asp1958=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 958540	NM_001256789.3(CACNA1F):c.5863G>A (p.Asp1955Asn)	CACNA1F (D1901N +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 2A +1 more	GUncertain significance
Select item 1522637	NM_001256789.3(CACNA1F):c.5854G>C (p.Asp1952His)	CACNA1F (D1898H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485383	NM_001256789.3(CACNA1F):c.5854G>A (p.Asp1952Asn)	CACNA1F (D1898N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463654	NM_001256789.3(CACNA1F):c.5849G>T (p.Arg1950Leu)	CACNA1F (R1950L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855148	NM_001256789.3(CACNA1F):c.5849G>A (p.Arg1950His)	CACNA1F (R1961H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848969	NM_001256789.3(CACNA1F):c.5848C>T (p.Arg1950Cys)	CACNA1F (R1896C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942873	NM_001256789.3(CACNA1F):c.5847C>T (p.Ser1949=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168361	NM_001256789.3(CACNA1F):c.5846C>T (p.Ser1949Phe)	CACNA1F (S1895F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 937725	NM_001256789.3(CACNA1F):c.5836T>G (p.Ser1946Ala)	CACNA1F (S1946A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907715	NM_001256789.3(CACNA1F):c.5830G>A (p.Glu1944Lys)	CACNA1F (E1955K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282023	NM_001256789.3(CACNA1F):c.5829C>T (p.Asp1943=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1719128	NM_001256789.3(CACNA1F):c.5827G>C (p.Asp1943His)	CACNA1F (D1889H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197594	NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)	CACNA1F (D1954N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2056894	NM_001256789.3(CACNA1F):c.5826C>T (p.Ser1942=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1464182	NM_001256789.3(CACNA1F):c.5822A>C (p.Tyr1941Ser)	CACNA1F (Y1887S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014622	NM_001256789.3(CACNA1F):c.5810C>T (p.Thr1937Ile)	CACNA1F (T1883I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474283	NM_001256789.3(CACNA1F):c.5807G>A (p.Gly1936Glu)	CACNA1F (G1936E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010649	NM_001256789.3(CACNA1F):c.5775G>T (p.Met1925Ile)	CACNA1F (M1871I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165152	NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1586046	NM_001256789.3(CACNA1F):c.5756_5757delinsAT (p.Arg1919His)	CACNA1F (R1865H +2 more)	Indel (missense variant)	not provided	GLikely benign
Select item 752302	NM_001256789.3(CACNA1F):c.5757C>T (p.Arg1919=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 100576	NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His)	CACNA1F (R1930H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1956805	NM_001256789.3(CACNA1F):c.5733G>A (p.Lys1911=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009329	NM_001256789.3(CACNA1F):c.5729C>A (p.Ala1910Asp)	CACNA1F (A1910D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841523	NM_001256789.3(CACNA1F):c.5721G>A (p.Val1907=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511055	NM_001256789.3(CACNA1F):c.5714G>A (p.Arg1905His)	CACNA1F (R1851H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505522	NM_001256789.3(CACNA1F):c.5713C>T (p.Arg1905Cys)	CACNA1F (R1916C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479084	NM_001256789.3(CACNA1F):c.5705G>A (p.Arg1902Gln)	CACNA1F (R1902Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111065	NM_001256789.3(CACNA1F):c.5703T>C (p.Ala1901=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 197595	NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=)	CACNA1F	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 933864	NM_001256789.3(CACNA1F):c.5698T>G (p.Phe1900Val)	CACNA1F (F1911V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910746	NM_001256789.3(CACNA1F):c.5672T>C (p.Val1891Ala)	CACNA1F (V1837A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286867	NM_001256789.3(CACNA1F):c.5670+69C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2057417	NM_001256789.3(CACNA1F):c.5670+19T>C	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941833	NM_001256789.3(CACNA1F):c.5670+14G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2705094	NM_001256789.3(CACNA1F):c.5670+3G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1986328	NM_001256789.3(CACNA1F):c.5670+2_5670+3del	CACNA1F	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 1002505	NM_001256789.3(CACNA1F):c.5668G>A (p.Ala1890Thr)	CACNA1F (A1836T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042336	NM_001256789.3(CACNA1F):c.5653G>A (p.Asp1885Asn)	CACNA1F (D1831N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857058	NM_001256789.3(CACNA1F):c.5651C>G (p.Ala1884Gly)	CACNA1F (A1830G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717225	NM_001256789.3(CACNA1F):c.5622G>A (p.Ser1874=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369205	NM_001256789.3(CACNA1F):c.5621C>T (p.Ser1874Leu)	CACNA1F (S1885L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902667	NM_001256789.3(CACNA1F):c.5618A>G (p.His1873Arg)	CACNA1F (H1819R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934932	NM_001256789.3(CACNA1F):c.5617C>A (p.His1873Asn)	CACNA1F (H1873N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044359	NM_001256789.3(CACNA1F):c.5612G>C (p.Gly1871Ala)	CACNA1F (G1817A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403035	NM_001256789.3(CACNA1F):c.5608C>G (p.Pro1870Ala)	CACNA1F (P1816A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901586	NM_001256789.3(CACNA1F):c.5605G>A (p.Val1869Met)	CACNA1F (V1815M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1111362	NM_001256789.3(CACNA1F):c.5604C>T (p.His1868=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507155	NM_001256789.3(CACNA1F):c.5602C>T (p.His1868Tyr)	CACNA1F (H1814Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960793	NM_001256789.3(CACNA1F):c.5597G>T (p.Cys1866Phe)	CACNA1F (C1866F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834485	NM_001256789.3(CACNA1F):c.5596T>C (p.Cys1866Arg)	CACNA1F (C1866R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722081	NM_001256789.3(CACNA1F):c.5594C>G (p.Thr1865Ser)	CACNA1F (T1811S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091319	NM_001256789.3(CACNA1F):c.5586C>T (p.Arg1862=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977877	NM_001256789.3(CACNA1F):c.5585G>A (p.Arg1862His)	CACNA1F (R1862H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502276	NM_001256789.3(CACNA1F):c.5584C>G (p.Arg1862Gly)	CACNA1F (R1808G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019757	NM_001256789.3(CACNA1F):c.5583G>A (p.Leu1861=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938079	NM_001256789.3(CACNA1F):c.5577C>G (p.Gly1859=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 281511	NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=)	CACNA1F	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1495310	NM_001256789.3(CACNA1F):c.5572A>G (p.Ser1858Gly)	CACNA1F (S1804G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 840496	NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser)	CACNA1F (G1855S +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1584340	NM_001256789.3(CACNA1F):c.5562C>T (p.Leu1854=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601983	NM_001256789.3(CACNA1F):c.5560C>A (p.Leu1854Ile)	CACNA1F (L1800I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1996759	NM_001256789.3(CACNA1F):c.5551G>A (p.Glu1851Lys)	CACNA1F (E1797K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579564	NM_001256789.3(CACNA1F):c.5550G>A (p.Gly1850=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1025356	NM_001256789.3(CACNA1F):c.5548G>A (p.Gly1850Arg)	CACNA1F (G1796R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917490	NM_001256789.3(CACNA1F):c.5547G>A (p.Ala1849=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936401	NM_001256789.3(CACNA1F):c.5546C>T (p.Ala1849Val)	CACNA1F (A1849V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433885	NM_001256789.3(CACNA1F):c.5542G>A (p.Ala1848Thr)	CACNA1F (A1859T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166283	NM_001256789.3(CACNA1F):c.5541C>T (p.Gly1847=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3262741	NM_001256789.3(CACNA1F):c.5519C>T (p.Pro1840Leu)	CACNA1F (P1840L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1128606	NM_001256789.3(CACNA1F):c.5505G>C (p.Arg1835=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347248	NM_001256789.3(CACNA1F):c.5504G>A (p.Arg1835Gln)	CACNA1F (R1781Q +2 more)	Single nucleotide variant (missense variant)	Ocular albinism, type II +1 more	GConflicting classifications of pathogenicity
Select item 871504	NM_001256789.3(CACNA1F):c.5481G>A (p.Trp1827Ter)	CACNA1F (W1827* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2000833	NM_001256789.3(CACNA1F):c.5473-1G>A	CACNA1F	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 957194	NM_001256789.3(CACNA1F):c.5447G>A (p.Arg1816Gln)	CACNA1F (R1762Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988790	NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter)	CACNA1F (R1762* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 967237	NM_001256789.3(CACNA1F):c.5441G>A (p.Arg1814His)	CACNA1F (R1825H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136350	NM_001256789.3(CACNA1F):c.5440C>T (p.Arg1814Cys)	CACNA1F (R1814C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2799222	NM_001256789.3(CACNA1F):c.5432C>T (p.Thr1811Ile)	CACNA1F (T1822I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996303	NM_001256789.3(CACNA1F):c.5417_5423del (p.Leu1806fs)	CACNA1F (L1752fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1616553	NM_001256789.3(CACNA1F):c.5406T>C (p.Ser1802=)	CACNA1F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957039	NM_001256789.3(CACNA1F):c.5402_5403delinsAA (p.Gly1801Glu)	CACNA1F (G1747E +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1912597	NM_001256789.3(CACNA1F):c.5396G>A (p.Arg1799His)	CACNA1F (R1799H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901730	NM_001256789.3(CACNA1F):c.5395C>T (p.Arg1799Cys)	CACNA1F (R1810C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1013918	NM_001256789.3(CACNA1F):c.5386T>C (p.Cys1796Arg)	CACNA1F (C1742R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792420	NM_001256789.3(CACNA1F):c.5372C>G (p.Ser1791Cys)	CACNA1F (S1802C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810596	NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe)	CACNA1F (S1791F +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness +1 more	GConflicting classifications of pathogenicity
Select item 860599	NM_001256789.3(CACNA1F):c.5369C>T (p.Pro1790Leu)	CACNA1F (P1736L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356960	NM_001256789.3(CACNA1F):c.5362C>T (p.Arg1788Trp)	CACNA1F (R1734W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971418	NM_001256789.3(CACNA1F):c.5360-14C>T	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918546	NM_001256789.3(CACNA1F):c.5360-19G>C	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668142	NM_001256789.3(CACNA1F):c.5360-19G>A	CACNA1F	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 852220	NM_001256789.3(CACNA1F):c.5359+1G>A	CACNA1F	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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