C3827273[trait identifier] AND "Robert's Program, Boston Children's Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327141	NM_001165963.4(SCN1A):c.4357T>G (p.Tyr1453Asp)	LOC102724058, SCN1A (Y1424D +5 more)	Single nucleotide variant (missense variant +1 more)	Sudden unexplained death in childhood	GLikely pathogenic
Select item 1327140	NM_001165963.4(SCN1A):c.182T>C (p.Leu61Pro)	SCN1A (L61P)	Single nucleotide variant (missense variant +2 more)	Sudden unexplained death in childhood	GLikely pathogenic
Select item 810669	NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)	BRPF1 (A396fs)	Deletion (frameshift variant +1 more)	Global developmental delay +3 more	GPathogenic
Select item 1327139	NM_198904.4(GABRG2):c.327+1G>A	GABRG2	Single nucleotide variant (splice donor variant)	Sudden unexplained death in childhood	GLikely pathogenic
Select item 985348	NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	ANKRD11 (R2512W)	Single nucleotide variant (missense variant)	Sudden unexplained death in childhood +3 more	GPathogenic/Likely pathogenic
Select item 658229	NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)	FLNA (P1591L)	Single nucleotide variant (missense variant)	Sudden unexplained death in childhood +5 more	GConflicting classifications of pathogenicity

ClinVar