ClinVar for MedGen (Select 488855) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374104	NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter)	SCN9A, SCN1A-AS1 (R548*)	Single nucleotide variant (nonsense)	Pain insensitivity +3 more	GPathogenic
Select item 374103	NM_001365536.1(SCN9A):c.377+5C>T	SCN9A	Single nucleotide variant (intron variant)	Pain insensitivity +3 more	GConflicting classifications of pathogenicity