ClinVar for PubMed (Select 7847370) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2166438	NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)	CACNA1S (R1239C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1698500	NM_002693.3(POLG):c.[1760C>T;752C>T]	POLG, POLGARF (T251I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 849085	NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	CACNA1S (R528C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis +3 more	GLikely pathogenic
Select item 473965	NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	CACNA1S (R528L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 17625	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S (R528H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GPathogenic
Select item 17624	NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	CACNA1S (R1239G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GPathogenic
Select item 17623	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S (R1239H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	not provided +14 more	GConflicting classifications of pathogenicity