"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931816	NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)	CACNA1A (H2216P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 523409	NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)	CACNA1A (A1808S +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 68432	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	CACNA1A (R1664Q +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely 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 931950	NM_001127222.2(CACNA1A):c.4089+18T>G	CACNA1A	Single nucleotide variant (intron variant)	Migraine, familial hemiplegic, 1	GUncertain significance
Select item 388053	NM_001127222.2(CACNA1A):c.3989+11T>C	CACNA1A, LOC126862865	Single nucleotide variant (intron variant)	Episodic ataxia type 2 +3 more	GLikely benign
Select item 930351	NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)	CACNA1A, LOC126862865 (V1305I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 585567	NM_001127222.2(CACNA1A):c.3692+1G>A	CACNA1A	Single nucleotide variant (splice donor variant)	Episodic ataxia type 2 +2 more	GPathogenic/Likely pathogenic
Select item 931418	NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)	CACNA1A (E1212* +2 more)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1	GLikely pathogenic
Select item 931618	NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)	CACNA1A (R936Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 931379	NM_001127222.2(CACNA1A):c.1555+3_1555+6del	CACNA1A	Deletion (splice donor variant)	not provided +2 more	GUncertain significance
Select item 931951	NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)	CACNA1A (L389P)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GUncertain significance
Select item 373933	NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)	CACNA1A (R192W)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity