C0752124[trait identifier] AND "UniProtKB/Swiss-Prot"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 68440	NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	CACNA1A (R2135C +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +5 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)	Developmental and epileptic encephalopathy, 42 +7 more	GConflicting classifications of pathogenicity
Select item 8495	NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	CACNA1A (R1666H +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +3 more	GPathogenic/Likely pathogenic
Select item 68428	NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)	CACNA1A (G1105S +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GBenign/Likely benign
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
Select item 8505	NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	CACNA1A (R583Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +5 more	GPathogenic
Select item 68420	NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)	CACNA1A (A454T +1 more)	Single nucleotide variant (missense variant)	CACNA1A-related disorder +7 more	GBenign/Likely benign
Select item 8496	NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	CACNA1A (G293R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GPathogenic