CN239386[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 331904	NM_001365536.1(SCN9A):c.*2744del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GUncertain significance
Select item 331908	NM_001365536.1(SCN9A):c.2616_2626del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GBenign
Select item 331924	NM_001365536.1(SCN9A):c.1960_1962dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Severe myoclonic epilepsy in infancy +6 more	GLikely benign
Select item 331929	NM_001365536.1(SCN9A):c.1605_1606del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GLikely benign
Select item 331942	NM_001365536.1(SCN9A):c.*798dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Congenital Indifference to Pain +6 more	GBenign
Select item 331947	NM_001365536.1(SCN9A):c.*491del	SCN1A-AS1, SCN9A	Deletion (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GUncertain significance
Select item 331956	NM_001365536.1(SCN9A):c.165_167dup	SCN1A-AS1, SCN9A	Duplication (3 prime UTR variant)	Inherited Erythromelalgia +6 more	GUncertain significance
Select item 331962	NM_001365536.1(SCN9A):c.4503+8_4503+9insT	SCN1A-AS1, SCN9A	Insertion (intron variant)	Generalized epilepsy with febrile seizures plus +8 more	GConflicting classifications of pathogenicity
Select item 331964	NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del)	SCN1A-AS1, SCN9A (K1469del +1 more)	Microsatellite (inframe_deletion +1 more)	Inherited Erythromelalgia +6 more	GUncertain significance
Select item 331969	NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)	SCN1A-AS1, SCN9A (C1155Y +1 more)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus +8 more	GUncertain significance
Select item 289499	NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr)	SCN1A-AS1, SCN9A (F1144Y +1 more)	Single nucleotide variant (missense variant)	Congenital Indifference to Pain +9 more	GUncertain significance
Select item 331976	NM_001365536.1(SCN9A):c.2875-5del	SCN1A-AS1, SCN9A	Deletion (intron variant)	Generalized epilepsy with febrile seizures plus +6 more	GLikely benign
Select item 167661	NM_001365536.1(SCN9A):c.1975-3dup	SCN1A-AS1, SCN9A	Duplication (intron variant)	Paroxysmal extreme pain disorder +10 more	GBenign
Select item 194207	NM_001365536.1(SCN9A):c.1975-3del	SCN1A-AS1, SCN9A	Deletion (intron variant)	Small fiber neuropathy +9 more	GBenign/Likely benign