CACNA2D2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2098728	NM_006030.4(CACNA2D2):c.2075ACA[2] (p.Asn694del)	CACNA2D2 (N694del +2 more)	Microsatellite (inframe_deletion +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 836243	NM_006030.4(CACNA2D2):c.2081A>C (p.Asn694Thr)	CACNA2D2 (N694T +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2142754	NM_006030.4(CACNA2D2):c.2072C>T (p.Ser691Leu)	CACNA2D2 (S622L +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1611287	NM_006030.4(CACNA2D2):c.2070C>T (p.Ala690=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 759908	NM_006030.4(CACNA2D2):c.2062C>T (p.Leu688=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1008434	NM_006030.4(CACNA2D2):c.2046A>G (p.Arg682=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1629247	NM_006030.4(CACNA2D2):c.2046-8A>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1540458	NM_006030.4(CACNA2D2):c.2046-9C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2121637	NM_006030.4(CACNA2D2):c.2046-16C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2007675	NM_006030.4(CACNA2D2):c.2045+20G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1531346	NM_006030.4(CACNA2D2):c.2045+16C>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1548825	NM_006030.4(CACNA2D2):c.2045+10G>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 461305	NM_006030.4(CACNA2D2):c.2045+10G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1419632	NM_006030.4(CACNA2D2):c.2045+9C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1467942	NM_006030.4(CACNA2D2):c.2045+1G>A	CACNA2D2	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1114296	NM_006030.4(CACNA2D2):c.2043C>T (p.Pro681=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1018046	NM_006030.4(CACNA2D2):c.2033T>C (p.Phe678Ser)	CACNA2D2 (F609S +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 699103	NM_006030.4(CACNA2D2):c.2029G>A (p.Val677Ile)	CACNA2D2 (V608I +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 416533	NM_006030.4(CACNA2D2):c.2028C>T (p.His676=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1418043	NM_006030.4(CACNA2D2):c.2022A>G (p.Glu674=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1414012	NM_006030.4(CACNA2D2):c.2008A>G (p.Ser670Gly)	CACNA2D2 (S670G +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1079007	NM_006030.4(CACNA2D2):c.2001C>T (p.Leu667=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1614965	NM_006030.4(CACNA2D2):c.1998G>C (p.Leu666=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2701646	NM_006030.4(CACNA2D2):c.1996del (p.Leu666fs)	CACNA2D2 (L673fs +2 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2824992	NM_006030.4(CACNA2D2):c.1985-10_1985-5del	CACNA2D2	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2843921	NM_006030.4(CACNA2D2):c.1985-7G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2892015	NM_006030.4(CACNA2D2):c.1985-13G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2195363	NM_006030.4(CACNA2D2):c.1985-14dup	CACNA2D2	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1622806	NM_006030.4(CACNA2D2):c.1985-14C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1590673	NM_006030.4(CACNA2D2):c.1985-14del	CACNA2D2	Deletion (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GBenign
Select item 1398692	NM_006030.4(CACNA2D2):c.1985-14C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2888278	NM_006030.4(CACNA2D2):c.1985-18C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2852028	NM_006030.4(CACNA2D2):c.1985-18C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1269344	NM_006030.4(CACNA2D2):c.1984+1844A>G	CACNA2D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1898377	NM_006030.4(CACNA2D2):c.1984+19G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2731954	NM_006030.4(CACNA2D2):c.1984+17C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2132128	NM_006030.4(CACNA2D2):c.1984+15C>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2421765	NM_006030.4(CACNA2D2):c.1984+14C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1591993	NM_006030.4(CACNA2D2):c.1984+12G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 1566741	NM_006030.4(CACNA2D2):c.1984+11C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2701253	NM_006030.4(CACNA2D2):c.1984+9C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1136196	NM_006030.4(CACNA2D2):c.1984+7dup	CACNA2D2	Duplication (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1629309	NM_006030.4(CACNA2D2):c.1984+8G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1129420	NM_006030.4(CACNA2D2):c.1962T>C (p.Ser654=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 570589	NM_006030.4(CACNA2D2):c.1956_1960del (p.Asn652fs)	CACNA2D2 (N583fs +1 more)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1104449	NM_006030.4(CACNA2D2):c.1953C>T (p.Ala651=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 575896	NM_006030.4(CACNA2D2):c.1945C>T (p.Leu649Phe)	CACNA2D2 (L649F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 530472	NM_006030.4(CACNA2D2):c.1942T>A (p.Tyr648Asn)	CACNA2D2 (Y648N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2036115	NM_006030.4(CACNA2D2):c.1941C>G (p.Phe647Leu)	CACNA2D2 (F647L +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2298159	NM_006030.4(CACNA2D2):c.1939T>G (p.Phe647Val)	CACNA2D2 (F578V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1060968	NM_006030.4(CACNA2D2):c.1937C>A (p.Thr646Asn)	CACNA2D2 (T577N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2919386	NM_006030.4(CACNA2D2):c.1923C>G (p.Leu641=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1152539	NM_006030.4(CACNA2D2):c.1923C>T (p.Leu641=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 837952	NM_006030.4(CACNA2D2):c.1913G>T (p.Gly638Val)	CACNA2D2 (G569V +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1621231	NM_006030.4(CACNA2D2):c.1909C>T (p.Leu637=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1484044	NM_006030.4(CACNA2D2):c.1908C>T (p.Ser636=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1011688	NM_006030.4(CACNA2D2):c.1908-3C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2151848	NM_006030.4(CACNA2D2):c.1908-4T>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 860857	NM_006030.4(CACNA2D2):c.1908-5C>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 411011	NM_006030.4(CACNA2D2):c.1908-5C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 2156882	NM_006030.4(CACNA2D2):c.1908-6C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1120271	NM_006030.4(CACNA2D2):c.1908-6C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 572771	NM_006030.4(CACNA2D2):c.1908-6C>G	CACNA2D2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1434642	NM_006030.4(CACNA2D2):c.1908-9C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1444768	NM_006030.4(CACNA2D2):c.1908-10C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1644630	NM_006030.4(CACNA2D2):c.1908-18G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1586286	NM_006030.4(CACNA2D2):c.1908-19C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1242667	NM_006030.4(CACNA2D2):c.1908-55G>A	CACNA2D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278394	NM_006030.4(CACNA2D2):c.1907+130T>C	CACNA2D2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2863042	NM_006030.4(CACNA2D2):c.1907+17C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2731909	NM_006030.4(CACNA2D2):c.1907+16G>C	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2879057	NM_006030.4(CACNA2D2):c.1907+11C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2043061	NM_006030.4(CACNA2D2):c.1907+9G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 797399	NM_006030.4(CACNA2D2):c.1907+8A>T	CACNA2D2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 530607	NM_006030.4(CACNA2D2):c.1907+7G>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2111499	NM_006030.4(CACNA2D2):c.1907+3A>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1029001	NM_006030.4(CACNA2D2):c.1907+3A>C	CACNA2D2	Single nucleotide variant (intron variant)	Cerebellar atrophy with seizures and variable developmental delay +1 more	GUncertain significance
Select item 2818776	NM_006030.4(CACNA2D2):c.1905C>G (p.Tyr635Ter)	CACNA2D2 (Y635* +1 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1132363	NM_006030.4(CACNA2D2):c.1899T>A (p.Thr633=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2005780	NM_006030.4(CACNA2D2):c.1896C>T (p.Ser632=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1002001	NM_006030.4(CACNA2D2):c.1895G>A (p.Ser632Asn)	CACNA2D2 (S563N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060613	NM_006030.4(CACNA2D2):c.1890A>G (p.Ile630Met)	CACNA2D2 (I561M +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 838143	NM_006030.4(CACNA2D2):c.1877C>T (p.Thr626Ile)	CACNA2D2 (T626I +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1547105	NM_006030.4(CACNA2D2):c.1875C>T (p.Tyr625=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1483446	NM_006030.4(CACNA2D2):c.1874A>G (p.Tyr625Cys)	CACNA2D2 (Y556C +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1416763	NM_006030.4(CACNA2D2):c.1868G>A (p.Arg623Gln)	CACNA2D2 (R554Q +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 2087120	NM_006030.4(CACNA2D2):c.1867C>T (p.Arg623Trp)	CACNA2D2 (R554W +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1143947	NM_006030.4(CACNA2D2):c.1863G>A (p.Val621=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1465676	NM_006030.4(CACNA2D2):c.1853T>C (p.Ile618Thr)	CACNA2D2 (I618T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1040481	NM_006030.4(CACNA2D2):c.1849T>A (p.Tyr617Asn)	CACNA2D2 (Y617N +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 530497	NM_006030.4(CACNA2D2):c.1847G>A (p.Arg616Lys)	CACNA2D2 (R616K +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 373439	NM_006030.4(CACNA2D2):c.1846-1G>A	CACNA2D2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2063941	NM_006030.4(CACNA2D2):c.1846-4C>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 3005284	NM_006030.4(CACNA2D2):c.1846-9C>G	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2791780	NM_006030.4(CACNA2D2):c.1846-16C>T	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 1558694	NM_006030.4(CACNA2D2):c.1845+12G>C	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 2849336	NM_006030.4(CACNA2D2):c.1845+10C>A	CACNA2D2	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign
Select item 847886	NM_006030.4(CACNA2D2):c.1845+1G>T	CACNA2D2	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1687585	NM_006030.4(CACNA2D2):c.1840del (p.Asp614fs)	CACNA2D2 (D545fs +1 more)	Deletion (frameshift variant)	Cerebellar atrophy with seizures and variable developmental delay	GPathogenic
Select item 1956565	NM_006030.4(CACNA2D2):c.1839G>A (p.Leu613=)	CACNA2D2	Single nucleotide variant (synonymous variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely benign

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