"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "SCN - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 852108	NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr)	SCN1A-AS1, SCN9A (M1582T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 856918	NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1053830	NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly)	SCN1A-AS1, SCN9A (D1100G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 421969	NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)	SCN1A-AS1, SCN9A (R896W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 451326	NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)	SCN1A-AS1, SCN9A (P756T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 6366	NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr)	SCN1A-AS1, SCN9A (N641Y)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GConflicting classifications of pathogenicity
Select item 433099	NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg)	SCN1A-AS1, SCN9A (G616R)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GUncertain significance
Select item 245738	NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu)	SCN9A (F98L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GUncertain significance