"Clinical Genetics, Academic Medical Center"[submitter] AND "SCN9A"[ge - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287829	NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)	SCN9A, SCN1A-AS1 (V1428I +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
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 130266	NM_001365536.1(SCN9A):c.3802-4A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GBenign
Select item 130267	NM_001365536.1(SCN9A):c.3802-8T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 130265	NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SCN1A-AS1, SCN9A (N1245S +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 130264	NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +7 more	GBenign
Select item 130262	NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln)	SCN1A-AS1, SCN9A (R1110Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GBenign/Likely benign
Select item 387818	NM_001365536.1(SCN9A):c.3207C>T (p.His1069=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GLikely benign
Select item 94090	NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu)	SCN1A-AS1, SCN9A (V1002L)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +7 more	GConflicting classifications of pathogenicity
Select item 130260	NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	SCN1A-AS1, SCN9A (Y990C +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 331980	NM_001365536.1(SCN9A):c.2517+6C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	SCN9A-related disorder +8 more	GBenign/Likely benign
Select item 1284569	NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val)	SCN9A, SCN1A-AS1 (L812V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
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 451326	NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr)	SCN1A-AS1, SCN9A (P756T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 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 provided +8 more	GBenign/Likely benign
Select item 331984	NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 194207	NM_001365536.1(SCN9A):c.1975-3del	SCN9A, SCN1A-AS1	Deletion (intron variant)	Small fiber neuropathy +9 more	GBenign/Likely benign
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 130258	NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn)	SCN1A-AS1, SCN9A (S490N)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GBenign/Likely benign
Select item 291185	NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	SCN9A-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 167662	NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Small fiber neuropathy +8 more	GBenign/Likely benign
Select item 130255	NM_001365536.1(SCN9A):c.1155G>T (p.Val385=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Paroxysmal extreme pain disorder +7 more	GBenign
Select item 471078	NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Primary erythromelalgia +7 more	GConflicting classifications of pathogenicity
Select item 511675	NM_001365536.1(SCN9A):c.966-8G>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
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 130259	NM_001365536.1(SCN9A):c.174G>A (p.Gln58=)	SCN9A	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 332001	NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)	SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related disorder +8 more	GConflicting classifications of pathogenicity

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Items: 28