"GeneDx"[submitter] AND "SCN9A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 1315039	NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly)	SCN1A-AS1, SCN9A (E1974G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 246381	NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg)	SCN1A-AS1, SCN9A (S1972R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 196020	NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)	SCN1A-AS1, SCN9A (L1916F +1 more)	Single nucleotide variant (missense variant)	Inherited Erythromelalgia +7 more	GBenign/Likely benign
Select item 1707027	NM_001365536.1(SCN9A):c.5738C>G (p.Ser1913Ter)	SCN1A-AS1, SCN9A (S1902* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 234820	NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)	SCN1A-AS1, SCN9A (R1893H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 471149	NM_001365536.1(SCN9A):c.5699A>T (p.Tyr1900Phe)	SCN1A-AS1, SCN9A (Y1889F +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +3 more	GUncertain significance
Select item 246528	NM_001365536.1(SCN9A):c.5615C>T (p.Pro1872Leu)	SCN1A-AS1, SCN9A (P1861L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 931454	NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)	SCN1A-AS1, SCN9A (M1852T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 668198	NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +5 more	GConflicting classifications of pathogenicity
Select item 1057666	NM_001365536.1(SCN9A):c.5578C>T (p.Arg1860Cys)	SCN1A-AS1, SCN9A (R1849C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 234834	NM_001365536.1(SCN9A):c.5563G>A (p.Glu1855Lys)	SCN1A-AS1, SCN9A (E1844K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 234413	NM_001365536.1(SCN9A):c.5561G>A (p.Gly1854Glu)	SCN9A, SCN1A-AS1 (G1843E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315437	NM_001365536.1(SCN9A):c.5497G>A (p.Gly1833Ser)	SCN1A-AS1, SCN9A (G1822S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 246589	NM_001365536.1(SCN9A):c.5420C>G (p.Ala1807Gly)	SCN1A-AS1, SCN9A (A1796G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246553	NM_001365536.1(SCN9A):c.5392G>T (p.Glu1798Ter)	SCN1A-AS1, SCN9A (E1787* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 471143	NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs)	SCN1A-AS1, SCN9A (E1773fs +1 more)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GPathogenic/Likely pathogenic
Select item 2581931	NM_001365536.1(SCN9A):c.5269G>A (p.Ala1757Thr)	SCN1A-AS1, SCN9A (A1746T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 245703	NM_001365536.1(SCN9A):c.5251G>C (p.Val1751Leu)	SCN1A-AS1, SCN9A (V1740L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393040	NM_001365536.1(SCN9A):c.5207G>C (p.Gly1736Ala)	SCN1A-AS1, SCN9A (G1725A +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 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 1038794	NM_001365536.1(SCN9A):c.5146G>A (p.Asp1716Asn)	SCN1A-AS1, SCN9A (D1705N +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 471139	NM_001365536.1(SCN9A):c.5140G>A (p.Asp1714Asn)	SCN1A-AS1, SCN9A (D1703N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1256987	NM_001365536.1(SCN9A):c.5124T>C (p.Leu1708=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1256983	NM_001365536.1(SCN9A):c.5118T>C (p.Pro1706=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 246177	NM_001365536.1(SCN9A):c.5086A>T (p.Thr1696Ser)	SCN9A, SCN1A-AS1 (T1685S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 246334	NM_001365536.1(SCN9A):c.4965G>T (p.Met1655Ile)	SCN1A-AS1, SCN9A (M1644I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 245903	NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu)	SCN1A-AS1, SCN9A (A1632E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 130272	NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)	SCN1A-AS1, SCN9A	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 246028	NM_001365536.1(SCN9A):c.4904T>C (p.Phe1635Ser)	SCN1A-AS1, SCN9A (F1624S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 430091	NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro)	SCN9A, SCN1A-AS1 (L1612P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1174263	NM_001365536.1(SCN9A):c.4865G>A (p.Arg1622His)	SCN1A-AS1, SCN9A (R1611H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1302617	NM_001365536.1(SCN9A):c.4827C>G (p.Phe1609Leu)	SCN1A-AS1, SCN9A (F1598L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 130270	NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Inherited Erythromelalgia +7 more	GBenign
Select item 258888	NM_001365536.1(SCN9A):c.4774+16T>A	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GBenign
Select item 234412	NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg)	SCN1A-AS1, SCN9A (W1538R +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 424146	NM_001365536.1(SCN9A):c.4621C>A (p.Gln1541Lys)	SCN1A-AS1, SCN9A (Q1530K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 2579921	NM_001365536.1(SCN9A):c.4556T>C (p.Ile1519Thr)	SCN1A-AS1, SCN9A (I1508T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 234766	NM_001365536.1(SCN9A):c.4507A>T (p.Lys1503Ter)	SCN9A, SCN1A-AS1 (K1492* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 245854	NM_001365536.1(SCN9A):c.4503+1G>T	SCN1A-AS1, SCN9A	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 245799	NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter)	SCN1A-AS1, SCN9A (R1488* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 245847	NM_001365536.1(SCN9A):c.4476G>T (p.Lys1492Asn)	SCN9A, SCN1A-AS1 (K1481N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167657	NM_001365536.1(SCN9A):c.4399-10_4399-7del	SCN1A-AS1, SCN9A	Microsatellite (intron variant)	Inherited Erythromelalgia +9 more	GBenign
Select item 578051	NM_001365536.1(SCN9A):c.4358T>C (p.Ile1453Thr)	SCN1A-AS1, SCN9A (I1442T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 195815	NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GBenign/Likely benign
Select item 287829	NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile)	SCN1A-AS1, SCN9A (V1428I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inherited Erythromelalgia +8 more	GConflicting classifications of pathogenicity
Select item 246147	NM_001365536.1(SCN9A):c.4289G>A (p.Ser1430Asn)	SCN9A, SCN1A-AS1 (S1419N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1189664	NM_001365536.1(SCN9A):c.4261-13G>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 1331277	NM_001365536.1(SCN9A):c.4206+6del	SCN9A, SCN1A-AS1	Deletion (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1311600	NM_001365536.1(SCN9A):c.4198C>A (p.Leu1400Ile)	SCN1A-AS1, SCN9A (L1389I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384443	NM_001365536.1(SCN9A):c.4171A>G (p.Asn1391Asp)	SCN1A-AS1, SCN9A (N1391D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1014896	NM_001365536.1(SCN9A):c.4163A>G (p.Asn1388Ser)	SCN1A-AS1, SCN9A (N1377S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389306	NM_001365536.1(SCN9A):c.4141C>A (p.Arg1381=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 285950	NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous 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)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 450353	NM_001365536.1(SCN9A):c.4009A>C (p.Ile1337Leu)	SCN1A-AS1, SCN9A (I1326L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 331965	NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr)	SCN1A-AS1, SCN9A (I1304T +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GConflicting classifications of pathogenicity
Select item 508902	NM_001365536.1(SCN9A):c.3834T>G (p.Leu1278=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 195592	NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)	SCN1A-AS1, SCN9A (L1267V +1 more)	Single nucleotide variant (missense variant)	Inherited Erythromelalgia +8 more	GConflicting classifications of pathogenicity
Select item 507674	NM_001365536.1(SCN9A):c.3807T>A (p.Ser1269=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 130266	NM_001365536.1(SCN9A):c.3802-4A>G	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Inherited Erythromelalgia +7 more	GBenign
Select item 130267	NM_001365536.1(SCN9A):c.3802-8T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +7 more	GBenign
Select item 420840	NM_001365536.1(SCN9A):c.3802-13del	SCN1A-AS1, SCN9A	Deletion (intron variant)	not specified +2 more	GLikely benign
Select item 331967	NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 130265	NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	SCN1A-AS1, SCN9A (N1245S +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +9 more	GConflicting classifications of pathogenicity
Select item 195488	NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 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 1306258	NM_001365536.1(SCN9A):c.3632T>C (p.Phe1211Ser)	SCN1A-AS1, SCN9A (F1200S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430173	NM_001365536.1(SCN9A):c.3598C>T (p.Leu1200Phe)	SCN1A-AS1, SCN9A (L1189F +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 517708	NM_001365536.1(SCN9A):c.3573C>T (p.His1191=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GLikely benign
Select item 388862	NM_001365536.1(SCN9A):c.3540C>T (p.Asn1180=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 130263	NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr)	SCN1A-AS1, SCN9A (I1159T +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +5 more	GConflicting classifications of pathogenicity
Select item 194947	NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr)	SCN1A-AS1, SCN9A (N1158T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
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 947095	NM_001365536.1(SCN9A):c.3478G>A (p.Val1160Ile)	SCN1A-AS1, SCN9A (V1149I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
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 1304187	NM_001365536.1(SCN9A):c.3420A>C (p.Glu1140Asp)	SCN1A-AS1, SCN9A (E1129D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 167658	NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser)	SCN9A, SCN1A-AS1 (P1135S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 258885	NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)	SCN1A-AS1, SCN9A (L1123F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GConflicting classifications of pathogenicity
Select item 194839	NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp)	SCN1A-AS1, SCN9A (R1110W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 510831	NM_001365536.1(SCN9A):c.3351+15T>C	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GLikely benign
Select item 194737	NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu)	SCN1A-AS1, SCN9A (V1106L +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +3 more	GUncertain significance
Select item 331972	NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly)	SCN9A, SCN1A-AS1 (S1104G +1 more)	Single nucleotide variant (missense variant)	Small fiber neuropathy +7 more	GConflicting classifications of pathogenicity
Select item 423474	NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu)	SCN9A, SCN1A-AS1 (S1099L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GConflicting classifications of pathogenicity
Select item 234826	NM_001365536.1(SCN9A):c.3322A>G (p.Ser1108Gly)	SCN1A-AS1, SCN9A (S1097G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1300405	NM_001365536.1(SCN9A):c.3301A>G (p.Met1101Val)	SCN1A-AS1, SCN9A (M1090V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +3 more	GUncertain significance
Select item 451150	NM_001365536.1(SCN9A):c.3289G>A (p.Asp1097Asn)	SCN1A-AS1, SCN9A (D1086N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 381276	NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +4 more	GLikely benign
Select item 387818	NM_001365536.1(SCN9A):c.3207C>T (p.His1069=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	SCN9A-related condition +4 more	GLikely benign
Select item 130261	NM_001365536.1(SCN9A):c.3195C>T (p.Ser1065=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	SCN9A-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1440069	NM_001365536.1(SCN9A):c.3169G>A (p.Asp1057Asn)	SCN1A-AS1, SCN9A (D1046N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 415031	NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg)	SCN1A-AS1, SCN9A (K1045R +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 246380	NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)	SCN1A-AS1, SCN9A (K1006N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GConflicting classifications of pathogenicity
Select item 1018788	NM_001365536.1(SCN9A):c.3038C>A (p.Ala1013Glu)	SCN9A, SCN1A-AS1 (A1002E +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +2 more	GUncertain significance
Select item 511554	NM_001365536.1(SCN9A):c.3036A>G (p.Lys1012=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 546401	NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val)	SCN1A-AS1, SCN9A (I999V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +3 more	GConflicting classifications of pathogenicity
Select item 331974	NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His)	SCN1A-AS1, SCN9A (R996H +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity

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