C0014805[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6352	NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)	SCN1A-AS1, SCN9A (F1449V +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GPathogenic
Select item 21347	NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)	SCN1A-AS1, SCN9A (R1150W)	Single nucleotide variant (no sequence alteration +1 more)	not provided +2 more	GBenign
Select item 21346	NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro)	SCN1A-AS1, SCN9A (A863P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary erythromelalgia	Gnot provided
Select item 6349	NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His)	SCN1A-AS1, SCN9A (L858H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 6364	NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe)	SCN1A-AS1, SCN9A (L858F +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GPathogenic
Select item 6350	NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	SCN1A-AS1, SCN9A (I848T +1 more)	Single nucleotide variant (missense variant)	SCN9A-related peripheral neuropathies associated with increased pain +3 more	GPathogenic
Select item 21345	NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg)	SCN1A-AS1, SCN9A (L823R +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GLikely pathogenic
Select item 21344	NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)	SCN1A-AS1, SCN9A (P610T)	Single nucleotide variant (missense variant)	Inherited Erythromelalgia +7 more	GBenign/Likely benign
Select item 538468	NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)	SCN1A-AS1, SCN9A (V400M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 21343	NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys)	SCN9A, SCN1A-AS1 (N395K)	Single nucleotide variant (missense variant)	Primary erythromelalgia	Gnot provided
Select item 6351	NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)	SCN9A (S241T)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GConflicting classifications of pathogenicity
Select item 915877	NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	SCN9A (I234T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GPathogenic
Select item 6365	NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)	SCN9A (F216S)	Single nucleotide variant (missense variant)	Primary erythromelalgia	GPathogenic
Select item 21350	NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp)	SCN9A (N206D)	Single nucleotide variant (missense variant)	Primary erythromelalgia	Gnot provided
Select item 21349	NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val)	SCN9A (L201V)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 21348	NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val)	SCN9A (I136V)	Single nucleotide variant (missense variant)	Primary erythromelalgia	Gnot provided