C4313718[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369608	NM_000742.3(CHRNA2):c.*1882C>A	CHRNA2	Single nucleotide variant	Sleep-related hypermotor epilepsy	GLikely benign
Select item 369609	NM_000742.4(CHRNA2):c.*1873A>G	CHRNA2	Single nucleotide variant (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 362672	NM_000742.4(CHRNA2):c.*1286del	CHRNA2	Deletion (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GLikely benign
Select item 362675	NM_000742.4(CHRNA2):c.1024_1026del	CHRNA2	Deletion (3 prime UTR variant)	Sleep-related hypermotor epilepsy	GBenign
Select item 204944	NM_000742.4(CHRNA2):c.339+12_339+13del	CHRNA2	Deletion (intron variant)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GBenign
Select item 362713	NM_000742.4(CHRNA2):c.-562GA[8]	CHRNA2	Microsatellite (5 prime UTR variant)	Sleep-related hypermotor epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 362715	NM_000742.3(CHRNA2):c.-563_-562dupTG	CHRNA2	Microsatellite	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362718	NM_000742.3(CHRNA2):c.-578_-573delATGTGT	CHRNA2	Deletion	Sleep-related hypermotor epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 362720	NM_000742.3(CHRNA2):c.-576_-575insTA	CHRNA2	Insertion	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362719	NM_000742.3(CHRNA2):c.-581_-578delTGTA	CHRNA2	Deletion	Sleep-related hypermotor epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 362724	NM_000742.3(CHRNA2):c.-601_-600TG[14]	CHRNA2	Microsatellite	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362723	NM_000742.3(CHRNA2):c.-601_-600TG[13]	CHRNA2	Microsatellite	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362722	NM_000742.3(CHRNA2):c.-601_-600TG[12]	CHRNA2	Microsatellite	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362721	NM_000742.3(CHRNA2):c.-578A>G	CHRNA2	Single nucleotide variant	Sleep-related hypermotor epilepsy	GUncertain significance
Select item 362725	NM_000742.3(CHRNA2):c.-601_-600TG[10]	CHRNA2	Microsatellite	Sleep-related hypermotor epilepsy	GUncertain significance