"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SCN9A"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	LOC129935044, LOC129935045 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	CSRNP3, GALNT3 +14 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 471073	NC_000002.12:g.(?_165874735)_(166311776_?)del	LOC102724058, LOC129935046 +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 584051	NC_000002.11:g.(?_166929868)_(167056374_?)dup	SCN1A, SCN1A-AS1 +1 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 417445	NC_000002.12:g.(?_166195185)_(166204464_?)del	SCN1A-AS1, SCN9A	Deletion	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949826	NM_001365536.1(SCN9A):c.5964dup (p.Ter1989IleextTer?)	SCN1A-AS1, SCN9A	Duplication (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 2933957	NM_001365536.1(SCN9A):c.5964A>C (p.Lys1988Asn)	SCN1A-AS1, SCN9A (K1988N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2116775	NM_001365536.1(SCN9A):c.5964del (p.Lys1988fs)	SCN1A-AS1, SCN9A (K1977fs +1 more)	Deletion (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1996694	NM_001365536.1(SCN9A):c.5963A>C (p.Lys1988Thr)	SCN1A-AS1, SCN9A (K1988T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 948613	NM_001365536.1(SCN9A):c.5963A>G (p.Lys1988Arg)	SCN1A-AS1, SCN9A (K1988R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 471159	NM_001365536.1(SCN9A):c.5956A>G (p.Ser1986Gly)	SCN1A-AS1, SCN9A (S1975G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1315039	NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly)	SCN1A-AS1, SCN9A (E1974G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 834491	NM_001365536.1(SCN9A):c.5953G>A (p.Glu1985Lys)	SCN1A-AS1, SCN9A (E1985K +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 246381	NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg)	SCN9A, SCN1A-AS1 (S1972R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GConflicting classifications of pathogenicity
Select item 538464	NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)	SCN1A-AS1, SCN9A (S1972I +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +6 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)	Primary erythromelalgia +7 more	GConflicting classifications of pathogenicity
Select item 2108692	NM_001365536.1(SCN9A):c.5943A>T (p.Lys1981Asn)	SCN1A-AS1, SCN9A (K1970N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2946627	NM_001365536.1(SCN9A):c.5939G>A (p.Gly1980Glu)	SCN9A, SCN1A-AS1 (G1969E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 658681	NM_001365536.1(SCN9A):c.5929G>A (p.Glu1977Lys)	SCN1A-AS1, SCN9A (E1966K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1158516	NM_001365536.1(SCN9A):c.5928G>A (p.Lys1976=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 408575	NM_001365536.1(SCN9A):c.5926A>G (p.Lys1976Glu)	SCN1A-AS1, SCN9A (K1965E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 949375	NM_001365536.1(SCN9A):c.5923G>C (p.Glu1975Gln)	SCN1A-AS1, SCN9A (E1964Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1011667	NM_001365536.1(SCN9A):c.5921C>T (p.Thr1974Ile)	SCN1A-AS1, SCN9A (T1963I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2947951	NM_001365536.1(SCN9A):c.5918G>T (p.Arg1973Ile)	SCN1A-AS1, SCN9A (R1973I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1514086	NM_001365536.1(SCN9A):c.5918G>C (p.Arg1973Thr)	SCN1A-AS1, SCN9A (R1973T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2949263	NM_001365536.1(SCN9A):c.5917A>G (p.Arg1973Gly)	SCN1A-AS1, SCN9A (R1973G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 471157	NM_001365536.1(SCN9A):c.5916C>T (p.Asp1972=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1429064	NM_001365536.1(SCN9A):c.5915A>G (p.Asp1972Gly)	SCN1A-AS1, SCN9A (D1961G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1962931	NM_001365536.1(SCN9A):c.5914G>A (p.Asp1972Asn)	SCN1A-AS1, SCN9A (D1972N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1441509	NM_001365536.1(SCN9A):c.5910A>T (p.Glu1970Asp)	SCN1A-AS1, SCN9A (E1959D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1080568	NM_001365536.1(SCN9A):c.5907T>C (p.Tyr1969=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 642763	NM_001365536.1(SCN9A):c.5904_5906dup (p.Tyr1969Ter)	SCN1A-AS1, SCN9A (Y1969* +1 more)	Duplication (nonsense +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1378266	NM_001365536.1(SCN9A):c.5906A>G (p.Tyr1969Cys)	SCN1A-AS1, SCN9A (Y1969C +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 2924392	NM_001365536.1(SCN9A):c.5905T>C (p.Tyr1969His)	SCN1A-AS1, SCN9A (Y1958H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1376061	NM_001365536.1(SCN9A):c.5901G>C (p.Glu1967Asp)	SCN9A, SCN1A-AS1 (E1967D +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 408579	NM_001365536.1(SCN9A):c.5897_5900dup (p.Lys1968fs)	SCN9A, SCN1A-AS1 (K1968fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1063607	NM_001365536.1(SCN9A):c.5899G>T (p.Glu1967Ter)	SCN9A, SCN1A-AS1 (E1956* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2130539	NM_001365536.1(SCN9A):c.5891C>T (p.Pro1964Leu)	SCN1A-AS1, SCN9A (P1953L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 765263	NM_001365536.1(SCN9A):c.5883A>G (p.Val1961=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 696260	NM_001365536.1(SCN9A):c.5880T>C (p.Ser1960=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2948375	NM_001365536.1(SCN9A):c.5874_5877dup (p.Ser1960Ter)	SCN1A-AS1, SCN9A (S1949* +1 more)	Duplication (nonsense +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 408574	NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)	SCN1A-AS1, SCN9A (D1948A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely pathogenic
Select item 849952	NM_001365536.1(SCN9A):c.5873_5874del (p.Ser1957_Tyr1958insTer)	SCN1A-AS1, SCN9A	Microsatellite (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 1437909	NM_001365536.1(SCN9A):c.5873A>G (p.Tyr1958Cys)	SCN1A-AS1, SCN9A (Y1958C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2937710	NM_001365536.1(SCN9A):c.5871A>G (p.Ser1957=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1151022	NM_001365536.1(SCN9A):c.5868T>A (p.Pro1956=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2946299	NM_001365536.1(SCN9A):c.5863C>A (p.Pro1955Thr)	SCN1A-AS1, SCN9A (P1955T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2946198	NM_001365536.1(SCN9A):c.5858C>A (p.Thr1953Asn)	SCN1A-AS1, SCN9A (T1953N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 917569	NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile)	SCN1A-AS1, SCN9A (T1953I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1719600	NM_001365536.1(SCN9A):c.5852C>A (p.Ser1951Tyr)	SCN1A-AS1, SCN9A (S1940Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1117650	NM_001365536.1(SCN9A):c.5850A>C (p.Ser1950=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2931381	NM_001365536.1(SCN9A):c.5844C>T (p.Ala1948=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 846419	NM_001365536.1(SCN9A):c.5840_5842dup (p.Asp1947_Ala1948insAsp)	SCN1A-AS1, SCN9A	Duplication (inframe_insertion +1 more)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1540271	NM_001365536.1(SCN9A):c.5841T>C (p.Asp1947=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 538470	NM_001365536.1(SCN9A):c.5839G>C (p.Asp1947His)	SCN1A-AS1, SCN9A (D1936H +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 956459	NM_001365536.1(SCN9A):c.5837C>G (p.Thr1946Arg)	SCN1A-AS1, SCN9A (T1935R +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +6 more	GUncertain significance
Select item 839063	NM_001365536.1(SCN9A):c.5836dup (p.Thr1946fs)	SCN1A-AS1, SCN9A (T1946fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 575920	NM_001365536.1(SCN9A):c.5834A>G (p.Lys1945Arg)	SCN1A-AS1, SCN9A (K1934R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2157220	NM_001365536.1(SCN9A):c.5830G>A (p.Glu1944Lys)	SCN1A-AS1, SCN9A (E1933K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2940302	NM_001365536.1(SCN9A):c.5823_5827dup (p.Pro1943fs)	SCN1A-AS1, SCN9A (P1932fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 2941536	NM_001365536.1(SCN9A):c.5824dup (p.Ser1942fs)	SCN1A-AS1, SCN9A (S1942fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1663082	NM_001365536.1(SCN9A):c.5820C>T (p.Asn1940=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 471155	NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)	SCN9A, SCN1A-AS1 (N1929K +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +5 more	GUncertain significance
Select item 408587	NM_001365536.1(SCN9A):c.5817G>T (p.Glu1939Asp)	SCN1A-AS1, SCN9A (E1928D +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 651600	NM_001365536.1(SCN9A):c.5815G>A (p.Glu1939Lys)	SCN9A, SCN1A-AS1 (E1939K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 1100427	NM_001365536.1(SCN9A):c.5799T>C (p.Ala1933=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1042511	NM_001365536.1(SCN9A):c.5796G>A (p.Met1932Ile)	SCN1A-AS1, SCN9A (M1921I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 835187	NM_001365536.1(SCN9A):c.5795T>C (p.Met1932Thr)	SCN1A-AS1, SCN9A (M1921T +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 862511	NM_001365536.1(SCN9A):c.5792A>T (p.Asp1931Val)	SCN1A-AS1, SCN9A (D1920V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 845628	NM_001365536.1(SCN9A):c.5791G>T (p.Asp1931Tyr)	SCN1A-AS1, SCN9A (D1920Y +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 448296	NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His)	SCN1A-AS1, SCN9A (D1920H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 643565	NM_001365536.1(SCN9A):c.5783A>G (p.Asn1928Ser)	SCN1A-AS1, SCN9A (N1917S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 196020	NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)	SCN1A-AS1, SCN9A (L1916F +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GBenign/Likely benign
Select item 2948996	NM_001365536.1(SCN9A):c.5777T>C (p.Leu1926Ser)	SCN1A-AS1, SCN9A (L1926S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1972449	NM_001365536.1(SCN9A):c.5775T>C (p.Asp1925=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2938730	NM_001365536.1(SCN9A):c.5774A>T (p.Asp1925Val)	SCN1A-AS1, SCN9A (D1925V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1015754	NM_001365536.1(SCN9A):c.5771A>G (p.Asp1924Gly)	SCN1A-AS1, SCN9A (D1913G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2921985	NM_001365536.1(SCN9A):c.5769T>C (p.Asp1923=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 1036201	NM_001365536.1(SCN9A):c.5768A>T (p.Asp1923Val)	SCN1A-AS1, SCN9A (D1912V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1616232	NM_001365536.1(SCN9A):c.5766A>G (p.Arg1922=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2951673	NM_001365536.1(SCN9A):c.5763C>T (p.Asp1921=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 846080	NM_001365536.1(SCN9A):c.5763C>G (p.Asp1921Glu)	SCN1A-AS1, SCN9A (D1910E +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 837315	NM_001365536.1(SCN9A):c.5762A>T (p.Asp1921Val)	SCN1A-AS1, SCN9A (D1921V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 651481	NM_001365536.1(SCN9A):c.5758G>A (p.Gly1920Arg)	SCN1A-AS1, SCN9A (G1909R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 94092	NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly)	SCN1A-AS1, SCN9A (D1919G)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 94091	NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr)	SCN9A, SCN1A-AS1 (I1917T)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 471150	NM_001365536.1(SCN9A):c.5746_5749delinsAACT (p.Tyr1916_Ile1917delinsAsnLeu)	SCN1A-AS1, SCN9A	Indel (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1158733	NM_001365536.1(SCN9A):c.5748C>T (p.Tyr1916=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 2056182	NM_001365536.1(SCN9A):c.5747A>G (p.Tyr1916Cys)	SCN1A-AS1, SCN9A (Y1916C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1559062	NM_001365536.1(SCN9A):c.5745A>C (p.Ile1915=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 2933724	NM_001365536.1(SCN9A):c.5743A>G (p.Ile1915Val)	SCN1A-AS1, SCN9A (I1915V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1502753	NM_001365536.1(SCN9A):c.5741G>A (p.Ser1914Asn)	SCN1A-AS1, SCN9A (S1903N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 849194	NM_001365536.1(SCN9A):c.5735_5739del (p.Ile1912fs)	SCN1A-AS1, SCN9A (I1901fs +1 more)	Deletion (frameshift variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 935871	NM_001365536.1(SCN9A):c.5734A>G (p.Ile1912Val)	SCN1A-AS1, SCN9A (I1901V +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GUncertain significance
Select item 1627927	NM_001365536.1(SCN9A):c.5727C>A (p.Val1909=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 7 +1 more	GLikely benign
Select item 948833	NM_001365536.1(SCN9A):c.5725G>A (p.Val1909Ile)	SCN1A-AS1, SCN9A (V1909I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GUncertain significance
Select item 1112176	NM_001365536.1(SCN9A):c.5724T>C (p.Asn1908=)	SCN9A, SCN1A-AS1	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +1 more	GLikely benign
Select item 234820	NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His)	SCN1A-AS1, SCN9A (R1893H +1 more)	Single nucleotide variant (missense variant)	Small fiber neuropathy +7 more	GConflicting classifications of pathogenicity

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