ClinVar for MedGen (Select 909200) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802258	NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)	CHRNA1 (D64A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A +2 more	GUncertain significance
Select item 1519500	NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe)	CHRNA1 (I100F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 1366831	NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)	CHRNA1 (T337N +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A +3 more	GConflicting classifications of pathogenicity
Select item 680121	NM_000079.4(CHRNA1):c.43+59G>T	CHRNA1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 1A +3 more	GBenign
Select item 679132	NM_000079.4(CHRNA1):c.1003-53A>G	CHRNA1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 1A +3 more	GBenign
Select item 424708	NM_000751.2(CHRND):c.[1319A>G];[73G>T]			Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 418733	NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)	CHRNA1 (S199fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 257237	NM_000079.4(CHRNA1):c.235-385C>T	CHRNA1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 1B, fast-channel +4 more	GBenign
Select item 257235	NM_000079.4(CHRNA1):c.190-5del	CHRNA1	Deletion (intron variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +6 more	GBenign
Select item 135656	NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)	C17orf107, CHRNE (P141T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 29582	NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp)	CHRNA1 (R333W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 29581	NM_000079.4(CHRNA1):c.235-353G>A	CHRNA1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 18386	NM_000079.4(CHRNA1):c.441del (p.Cys148fs)	CHRNA1 (C148fs +1 more)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 18385	NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu)	CHRNA1 (V152L +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 18384	NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu)	CHRNA1 (F276L +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 18383	NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val)	CHRNA1 (F253V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GLikely pathogenic
Select item 18382	NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile)	CHRNA1 (V305I +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic