"Revvity Omics, Revvity"[submitter] AND "CHRNA1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2094654	NM_000079.4(CHRNA1):c.1343G>A (p.Gly448Asp)	CHRNA1 (G473D +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 449923	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1 (G441R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GPathogenic/Likely pathogenic
Select item 332436	NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)	CHRNA1 (G432R +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1376499	NM_000079.4(CHRNA1):c.1264G>A (p.Val422Ile)	CHRNA1 (V447I +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332439	NM_000079.4(CHRNA1):c.1247C>T (p.Ala416Val)	CHRNA1 (A441V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GUncertain significance
Select item 654719	NM_000079.4(CHRNA1):c.1242T>G (p.Asn414Lys)	CHRNA1 (N439K +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 958551	NM_000079.4(CHRNA1):c.1221G>T (p.Lys407Asn)	CHRNA1 (K407N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1432829	NM_000079.4(CHRNA1):c.1182T>A (p.Ser394Arg)	CHRNA1 (S394R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 795999	NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)	CHRNA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289935	NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)	CHRNA1 (M405T +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2440021	NM_000079.4(CHRNA1):c.1130C>G (p.Pro377Arg)	CHRNA1 (P377R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 578136	NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)	CHRNA1 (K356T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 706035	NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)	CHRNA1 (E355G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1412050	NM_000079.4(CHRNA1):c.1006T>G (p.Phe336Val)	CHRNA1 (F361V +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 2440023	NM_000079.4(CHRNA1):c.850A>C (p.Ile284Leu)	CHRNA1 (I284L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057318	NM_000079.4(CHRNA1):c.841G>A (p.Val281Met)	CHRNA1 (V281M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324073	NM_000079.4(CHRNA1):c.779-2A>C	CHRNA1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 135655	NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe)	CHRNA1 (S271F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440018	NM_000079.4(CHRNA1):c.710A>G (p.Asn237Ser)	CHRNA1 (N237S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1573739	NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)	CHRNA1 (V226I +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 940940	NM_000079.4(CHRNA1):c.580G>A (p.Gly194Arg)	CHRNA1 (G194R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	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 859574	NM_000079.4(CHRNA1):c.450C>G (p.Ile150Met)	CHRNA1 (I150M +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GUncertain significance
Select item 664996	NM_000079.4(CHRNA1):c.418C>T (p.Pro140Ser)	CHRNA1 (P165S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440020	NM_000079.4(CHRNA1):c.361G>A (p.Ala121Thr)	CHRNA1 (A121T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 534525	NM_000079.4(CHRNA1):c.320G>A (p.Arg107His)	CHRNA1 (R107H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2688779	NM_000079.4(CHRNA1):c.319C>A (p.Arg107Ser)	CHRNA1 (R107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 332448	NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)	CHRNA1 (R107C +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2123620	NM_000079.4(CHRNA1):c.310A>G (p.Lys104Glu)	CHRNA1 (K104E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 565596	NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys)	CHRNA1 (G119C +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
Select item 421486	NM_000079.4(CHRNA1):c.235-323G>A	CHRNA1 (R86H)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 332450	NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)	CHRNA1 (R75H)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1486524	NM_000079.4(CHRNA1):c.177G>C (p.Gln59His)	CHRNA1 (Q59H)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 851136	NM_000079.4(CHRNA1):c.145G>A (p.Val49Met)	CHRNA1 (V49M)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 575740	NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)	CHRNA1 (E22K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 571184	NM_000079.4(CHRNA1):c.52G>C (p.Val18Leu)	CHRNA1 (V18L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 534532	NM_000079.4(CHRNA1):c.13C>T (p.Pro5Ser)	CHRNA1 (P5S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 38