"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258888	NM_001365536.1(SCN9A):c.4774+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GBenign
Select item 195816	NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 195592	NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	SCN1A-AS1, SCN9A (L1267V +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 440255	NM_001365536.1(SCN9A):c.3481T>C (p.Trp1161Arg)	SCN1A-AS1, SCN9A (W1161R +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +5 more	GBenign
Select item 1174918	NM_001365536.1(SCN9A):c.2874+12G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1284450	NM_001365536.1(SCN9A):c.2332A>G (p.Ile778Val)	SCN1A-AS1, SCN9A (I767V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167659	NM_001365536.1(SCN9A):c.2105-14C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not provided +7 more	GBenign
Select item 130258	NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)	SCN1A-AS1, SCN9A (S490N)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +7 more	GBenign/Likely benign
Select item 130257	NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 130256	NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 130254	NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 130269	NM_001365536.1(SCN9A):c.444A>G (p.Pro148=)	SCN9A	Single nucleotide variant (synonymous variant)	Small fiber neuropathy +7 more	GBenign
Select item 538472	NM_001365536.1(SCN9A):c.361A>C (p.Lys121Gln)	SCN9A (K121Q)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 130259	NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)	SCN9A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign