"Center for Pediatric Genomic Medicine, Children's Mercy Hospital and - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 377142	NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser)	CACNA1H (P673S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 377295	NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys)	CACNA1H (E819K)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 376824	NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)	CACNA1H (C847F)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GConflicting classifications of pathogenicity
Select item 376802	NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)	CACNA1H (T920M)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +3 more	GBenign/Likely benign
Select item 235710	NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln)	CACNA1H (R1069Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 377182	NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 445312	NM_021098.3(CACNA1H):c.4038+12C>T	CACNA1H	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 445468	NM_021098.3(CACNA1H):c.4038+15G>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +3 more	GBenign/Likely benign
Select item 96013	NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)	CACNA1H (T1606M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 377230	NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)	CACNA1H (A1705T +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GBenign/Likely benign
Select item 445683	NM_021098.3(CACNA1H):c.5173+10C>T	CACNA1H	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign