ClinVar for PubMed (Select 19225109) - 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 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 5919	NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	GH-LCR, SCN4A (R675Q)	Single nucleotide variant (missense variant)	Myopathy +4 more	GPathogenic
Select item 5916	NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)	SCN4A (R672S)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GPathogenic
Select item 5913	NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SCN4A (R672G)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GPathogenic
Select item 5912	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A (R672H)	Single nucleotide variant (missense variant)	Acetazolamide-responsive myotonia +7 more	GConflicting classifications of pathogenicity