"CACNA1C-related disorder"[Disease/phenotype] AND "Undiagnosed Disease - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 190670	NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val)	CACNA1C (L1360V +8 more)	Single nucleotide variant (missense variant)	CACNA1C-related disorder	GUncertain significance
Select item 522828	NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)	CACNA1C (V1363L +8 more)	Single nucleotide variant (missense variant)	CACNA1C-related disorder	GLikely pathogenic