"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931454	NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)	SCN9A, SCN1A-AS1 (M1852T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 931881	NM_001365536.1(SCN9A):c.4243G>A (p.Ala1415Thr)	SCN9A, SCN1A-AS1 (A1415T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 194737	NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)	SCN1A-AS1, SCN9A (V1106L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 523455	NM_001365536.1(SCN9A):c.3328T>C (p.Ser1110Pro)	SCN1A-AS1, SCN9A (S1099P +1 more)	Single nucleotide variant (missense variant)	Generalized non-motor (absence) seizure +1 more	GUncertain significance
Select item 194498	NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val)	SCN1A-AS1, SCN9A (M787V +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 931317	NM_001365536.1(SCN9A):c.2299C>T (p.Pro767Ser)	SCN1A-AS1, SCN9A (P756S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A	GUncertain significance
Select item 408580	NM_001365536.1(SCN9A):c.2129G>A (p.Cys710Tyr)	SCN1A-AS1, SCN9A (C699Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 6367	NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	SCN1A-AS1, SCN9A (K666R)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
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 198153	NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	SCN9A (I228M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +8 more	GConflicting classifications of pathogenicity
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