"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SCN9A"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 471159	NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly)	SCN1A-AS1, SCN9A (S1975G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 646093	NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)	SCN1A-AS1, SCN9A (D1982V +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 956459	NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg)	SCN1A-AS1, SCN9A (T1935R +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GUncertain significance
Select item 945950	NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser)	SCN1A-AS1, SCN9A (P1722S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426795	NM_001365536.1(SCN9A):c.4892G>T (p.Arg1631Leu)	SCN1A-AS1, SCN9A (R1620L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 130271	NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)	SCN1A-AS1, SCN9A (T1596I +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 538443	NM_001365536.1(SCN9A):c.4561A>G (p.Ile1521Val)	SCN1A-AS1, SCN9A (I1510V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1097347	NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GConflicting classifications of pathogenicity
Select item 1018448	NM_001365536.1(SCN9A):c.4228A>T (p.Ile1410Phe)	SCN1A-AS1, SCN9A (I1399F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 566261	NM_001365536.1(SCN9A):c.4100G>A (p.Arg1367His)	SCN1A-AS1, SCN9A (R1356H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 195676	NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln)	SCN1A-AS1, SCN9A (R1347Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 846537	NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter)	SCN1A-AS1, SCN9A (W1249* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1163420	NM_001365536.1(SCN9A):c.3706A>G (p.Ile1236Val)	SCN1A-AS1, SCN9A (I1225V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 471114	NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)	SCN1A-AS1, SCN9A (R1150Q +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 471112	NM_001365536.1(SCN9A):c.3448G>A (p.Glu1150Lys)	SCN1A-AS1, SCN9A (E1139K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	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 423474	NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu)	SCN1A-AS1, SCN9A (S1099L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 579570	NM_001365536.1(SCN9A):c.3123T>A (p.His1041Gln)	SCN1A-AS1, SCN9A (H1030Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 130260	NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	SCN1A-AS1, SCN9A (Y990C +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1163421	NM_001365536.1(SCN9A):c.2504G>A (p.Arg835Gln)	SCN1A-AS1, SCN9A (R824Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 499529	NM_001365536.1(SCN9A):c.2422T>C (p.Trp808Arg)	SCN1A-AS1, SCN9A (W797R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 408588	NM_001365536.1(SCN9A):c.2365G>A (p.Ala789Thr)	SCN1A-AS1, SCN9A (A778T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 1163422	NM_001365536.1(SCN9A):c.2322T>A (p.Asn774Lys)	SCN1A-AS1, SCN9A (N763K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 254096	NM_001365536.1(SCN9A):c.2304G>A (p.Met768Ile)	SCN9A, SCN1A-AS1 (M757I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1068510	NM_001365536.1(SCN9A):c.2204del (p.Lys735fs)	SCN1A-AS1, SCN9A (K724fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 471092	NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)	SCN1A-AS1, SCN9A (R658H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 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)	not provided +6 more	GUncertain significance
Select item 408584	NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)	SCN1A-AS1, SCN9A (R597Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 408581	NM_001365536.1(SCN9A):c.1729A>G (p.Ile577Val)	SCN1A-AS1, SCN9A (I577V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 408586	NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn)	SCN1A-AS1, SCN9A (D572N)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 843626	NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter)	SCN1A-AS1, SCN9A (R523*)	Single nucleotide variant (nonsense)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GPathogenic
Select item 193859	NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)	SCN1A-AS1, SCN9A (E519K)	Single nucleotide variant (missense variant)	Paroxysmal extreme pain disorder +7 more	GConflicting classifications of pathogenicity
Select item 808878	NM_001365536.1(SCN9A):c.1336G>A (p.Glu446Lys)	SCN1A-AS1, SCN9A (E446K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163802	NM_001365536.1(SCN9A):c.1314+4C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163803	NM_001365536.1(SCN9A):c.1303G>A (p.Glu435Lys)	SCN1A-AS1, SCN9A (E435K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 415032	NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	SCN1A-AS1, SCN9A (M426K)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 245825	NM_001365536.1(SCN9A):c.1115G>A (p.Arg372His)	SCN1A-AS1, SCN9A (R372H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 373380	NM_001365536.1(SCN9A):c.892G>A (p.Asp298Asn)	SCN9A (D298N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 574441	NM_001365536.1(SCN9A):c.560C>T (p.Pro187Leu)	SCN9A (P187L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 576425	NM_001365536.1(SCN9A):c.118A>G (p.Lys40Glu)	SCN9A (K40E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1693827	NM_001365536.1(SCN9A):c.113A>G (p.Glu38Gly)	SCN9A (E38G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693828	NM_001365536.1(SCN9A):c.59T>G (p.Leu20Arg)	SCN9A (L20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845887	NM_001365536.1(SCN9A):c.20C>T (p.Pro7Leu)	SCN9A (P7L)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance

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Items: 43