"Revvity Omics, Revvity"[submitter] AND "SCN11A"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435665	NM_001349253.2(SCN11A):c.4433G>C (p.Arg1478Pro)	SCN11A (R1478P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838511	NM_001349253.2(SCN11A):c.3790T>C (p.Tyr1264His)	SCN11A (Y1264H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 644563	NM_001349253.2(SCN11A):c.3421A>G (p.Met1141Val)	SCN11A (M1141V)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 2435666	NM_001349253.2(SCN11A):c.2702C>A (p.Thr901Asn)	SCN11A (T901N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435668	NM_001349253.2(SCN11A):c.2237T>G (p.Leu746Ter)	SCN11A (L746*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 582088	NM_001349253.2(SCN11A):c.2095G>A (p.Gly699Arg)	SCN11A (G699R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 852625	NM_001349253.2(SCN11A):c.881C>T (p.Pro294Leu)	SCN11A (P294L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 968422	NM_001349253.2(SCN11A):c.743G>A (p.Arg248His)	SCN11A (R248H)	Single nucleotide variant (missense variant)	Hereditary sensory and autonomic neuropathy type 7 +2 more	GUncertain significance
Select item 2435667	NM_001349253.2(SCN11A):c.193C>T (p.Leu65Phe)	SCN11A (L65F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1056448	NM_001349253.2(SCN11A):c.89G>A (p.Arg30Gln)	SCN11A (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity