"OMIM"[submitter] AND "CHRNA1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18387	NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp)	CHRNA1 (C438W +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GPathogenic
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 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
Select item 18380	NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile)	CHRNA1 (S289I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	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 18378	NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile)	CHRNA1 (T274I +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GPathogenic
Select item 18381	NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)	CHRNA1 (V269F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 18376	NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys)	CHRNA1 (N237K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GPathogenic
Select item 18388	NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu)	CHRNA1 (R254L +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
Select item 18377	NM_000079.4(CHRNA1):c.526G>A (p.Val176Met)	CHRNA1 (V176M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 18379	NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1 (G173S +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy +3 more	GPathogenic/Likely pathogenic
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 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 29581	NM_000079.4(CHRNA1):c.235-353G>A	CHRNA1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 1B, fast-channel	GPathogenic
Select item 18389	NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)	CHRNA1 (H45fs)	Duplication (frameshift variant)	Lethal multiple pterygium syndrome	GPathogenic