ClinVar for MedGen (Select 419336) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584890	NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)	CHRNA1 (V335F +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GUncertain significance
Select item 1999935	NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)	CHRNA1 (T274N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome	GUncertain significance
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 1687566	NM_000079.4(CHRNA1):c.902C>G (p.Thr301Ser)	CHRNA1 (T301S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GUncertain significance
Select item 1366831	NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn)	CHRNA1 (T337N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1252011	NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys)	CHRNA1 (R229C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A +1 more	GUncertain significance
Select item 930934	NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr)	CHRNA1 (P256T +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GUncertain significance
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 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 243031	NM_000080.4(CHRNE):c.1327del	C17orf107, CHRNE +1 more	Deletion (splice acceptor variant)	Congenital myasthenic syndrome 4B +4 more	GPathogenic
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 18381	NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe)	CHRNA1 (V269F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
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 18379	NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser)	CHRNA1 (G173S +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A +2 more	GPathogenic/Likely pathogenic
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 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 18376	NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys)	CHRNA1 (N237K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 1A	GPathogenic

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Items: 20