"GeneDx"[submitter] AND "LOC126806652"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262921	NM_001349253.2(SCN11A):c.3759+175_3759+176insA	LOC126806652, SCN11A	Insertion (intron variant)	not provided	GBenign
Select item 1167870	NM_001349253.2(SCN11A):c.3759+10G>A	LOC126806652, SCN11A	Single nucleotide variant (intron variant)	Familial episodic pain syndrome with predominantly lower limb involvement +2 more	GBenign
Select item 1503941	NM_001349253.2(SCN11A):c.3746C>T (p.Ala1249Val)	LOC126806652, SCN11A (A1249V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 474722	NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp)	LOC126806652, SCN11A (N1242D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3372981	NM_001349253.2(SCN11A):c.3532A>G (p.Ile1178Val)	LOC126806652, SCN11A (I1178V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213380	NM_001349253.2(SCN11A):c.3496-125A>G	LOC126806652, SCN11A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289857	NM_001349253.2(SCN11A):c.3495+115C>A	SCN11A, LOC126806652	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar