C1833661[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538464	NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)	SCN1A-AS1, SCN9A (S1972I +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 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)	Generalized epilepsy with febrile seizures plus, type 7 +6 more	GUncertain significance
Select item 471155	NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)	SCN1A-AS1, SCN9A (N1929K +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +5 more	GUncertain significance
Select item 570897	NM_001365536.1(SCN9A):c.5408C>G (p.Ser1803Cys)	SCN1A-AS1, SCN9A (S1792C +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +5 more	GUncertain significance
Select item 706336	NM_001365536.1(SCN9A):c.5245C>T (p.Leu1749=)	SCN1A-AS1, SCN9A	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
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 471128	NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)	SCN1A-AS1, SCN9A (I1445M +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +5 more	GUncertain significance
Select item 448293	NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)	SCN1A-AS1, SCN9A (N1169D +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 more	GConflicting classifications of pathogenicity
Select item 1010055	NM_001365536.1(SCN9A):c.3332A>C (p.Asp1111Ala)	SCN1A-AS1, SCN9A (D1100A +1 more)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +4 more	GUncertain significance
Select item 1809687	NM_001365536.1(SCN9A):c.2874+11_2874+13del	SCN1A-AS1, SCN9A	Deletion (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GLikely benign
Select item 1025052	NM_001365536.1(SCN9A):c.2647G>T (p.Val883Phe)	SCN1A-AS1, SCN9A (V872F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary erythromelalgia +5 more	GConflicting classifications of pathogenicity
Select item 331980	NM_001365536.1(SCN9A):c.2517+6C>T	SCN1A-AS1, SCN9A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GBenign/Likely benign
Select item 245859	NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)	SCN1A-AS1, SCN9A (T773S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 655885	NM_001365536.1(SCN9A):c.2348T>C (p.Phe783Ser)	SCN1A-AS1, SCN9A (F772S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 331983	NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser)	SCN1A-AS1, SCN9A (L711S +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +6 more	GBenign/Likely benign
Select item 246106	NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met)	SCN1A-AS1, SCN9A (I684M +1 more)	Single nucleotide variant (missense variant)	Primary erythromelalgia +6 more	GUncertain significance
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 538480	NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)	SCN1A-AS1, SCN9A (S535L)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +7 more	GUncertain significance
Select item 234638	NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)	SCN1A-AS1, SCN9A (L427S)	Single nucleotide variant (missense variant)	Primary erythromelalgia +7 more	GUncertain significance
Select item 193648	NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr)	SCN1A-AS1, SCN9A (I413T)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 647001	NM_001365536.1(SCN9A):c.764G>A (p.Cys255Tyr)	SCN9A (C255Y)	Single nucleotide variant (missense variant)	Channelopathy-associated congenital insensitivity to pain, autosomal recessive +6 more	GUncertain significance
Select item 198153	NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)	SCN9A (I228M)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +8 more	GConflicting classifications of pathogenicity
Select item 471147	NM_001365536.1(SCN9A):c.561G>A (p.Pro187=)	SCN9A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GLikely benign
Select item 471146	NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)	SCN9A (R185C)	Single nucleotide variant (missense variant)	Primary erythromelalgia +5 more	GUncertain significance
Select item 6368	NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)	SCN9A (I62V)	Single nucleotide variant (missense variant)	not specified +8 more	GUncertain significance
Select item 245873	NM_001365536.1(SCN9A):c.76C>T (p.Arg26Cys)	SCN9A (R26C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 840205	NM_001365536.1(SCN9A):c.37G>A (p.Val13Ile)	SCN9A (V13I)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 7 +5 more	GUncertain significance

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Items: 28