C4310716[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 860639	NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)	CACNA1A (H1832R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 68432	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	CACNA1A (R1664Q +3 more)	Single nucleotide variant (missense variant)	Enlarged cisterna magna +7 more	GPathogenic/Likely pathogenic
Select item 1526054	NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)	CACNA1A (G1517V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42	GUncertain significance
Select item 1320269	NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)	CACNA1A (G1517R +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 279951	NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)	CACNA1A (F1502del +2 more)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic
Select item 2572485	NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)	CACNA1A, LOC126862864 (C1405* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 195935	NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)	CACNA1A, LOC126862864 (V1393M +2 more)	Single nucleotide variant (missense variant)	Migraine, familial hemiplegic, 1 +7 more	GPathogenic/Likely pathogenic
Select item 1392781	NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)	CACNA1A, LOC126862864 (I1389T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GUncertain significance
Select item 195663	NM_001127222.2(CACNA1A):c.3822+1G>A	CACNA1A	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 1526068	NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)	CACNA1A (S1045* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 42	GLikely pathogenic
Select item 254268	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	CACNA1A (A713T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +7 more	GPathogenic/Likely pathogenic
Select item 8488	NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	CACNA1A (T666M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +4 more	GPathogenic