"Illumina Laboratory Services, Illumina"[submitter] AND "CHRNA1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 893452	NM_000079.4(CHRNA1):c.*499A>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 893453	NM_000079.4(CHRNA1):c.*466G>C	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 332427	NM_000079.4(CHRNA1):c.*461A>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332428	NM_000079.4(CHRNA1):c.*426C>A	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +2 more	GBenign/Likely benign
Select item 332429	NM_000079.4(CHRNA1):c.*422G>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332430	NM_000079.4(CHRNA1):c.*414T>A	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332431	NM_000079.4(CHRNA1):c.*411G>A	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
Select item 893761	NM_000079.4(CHRNA1):c.*383T>C	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 332432	NM_000079.4(CHRNA1):c.*358C>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 894677	NM_000079.4(CHRNA1):c.*310C>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332433	NM_000079.4(CHRNA1):c.*288G>A	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 332434	NM_000079.4(CHRNA1):c.*275A>G	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 892689	NM_000079.4(CHRNA1):c.*218C>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +2 more	GBenign/Likely benign
Select item 892690	NM_000079.4(CHRNA1):c.*130A>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 892691	NM_000079.4(CHRNA1):c.*101C>T	CHRNA1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 332435	NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332436	NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)	CHRNA1 (G432R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 332437	NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +3 more	GConflicting classifications of pathogenicity
Select item 648665	NM_000079.4(CHRNA1):c.1288C>T (p.Leu430Phe)	CHRNA1 (L430F +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 893492	NM_000079.4(CHRNA1):c.1255T>A (p.Trp419Arg)	CHRNA1 (W419R +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332438	NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +1 more	GConflicting classifications of pathogenicity
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 332440	NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp)	CHRNA1 (E411D +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +3 more	GBenign/Likely benign
Select item 128733	NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val)	CHRNA1 (D383V +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GBenign
Select item 332441	NM_000079.4(CHRNA1):c.1002+9G>A	CHRNA1	Single nucleotide variant (intron variant)	CHRNA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 894707	NM_000079.4(CHRNA1):c.962G>A (p.Arg321His)	CHRNA1 (R346H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +2 more	GUncertain significance
Select item 128735	NM_000079.4(CHRNA1):c.960C>T (p.His320=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +2 more	GBenign
Select item 466185	NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332442	NM_000079.4(CHRNA1):c.813G>A (p.Leu271=)	CHRNA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 892724	NM_000079.4(CHRNA1):c.805G>C (p.Val269Leu)	CHRNA1 (V269L +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332443	NM_000079.4(CHRNA1):c.779-12_779-11del	CHRNA1	Deletion (intron variant)	Autosomal recessive multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 332445	NM_000079.4(CHRNA1):c.779-13_779-12del	CHRNA1	Deletion (intron variant)	Autosomal recessive multiple pterygium syndrome +2 more	GBenign
Select item 332444	NM_000079.4(CHRNA1):c.779-12del	CHRNA1	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 493302	NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +2 more	GBenign/Likely benign
Select item 892725	NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 332446	NM_000079.4(CHRNA1):c.705C>A (p.Ile235=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 578690	NM_000079.4(CHRNA1):c.686G>A (p.Arg229His)	CHRNA1 (R229H +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 198039	NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +3 more	GConflicting classifications of pathogenicity
Select item 210728	NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn)	CHRNA1 (D215N +1 more)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +3 more	GBenign/Likely benign
Select item 332447	NM_000079.4(CHRNA1):c.605G>A (p.Arg202Gln)	CHRNA1 (R202Q +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome +1 more	GUncertain significance
Select item 128734	NM_000079.4(CHRNA1):c.540+4G>C	CHRNA1	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome +2 more	GBenign
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 332449	NM_000079.4(CHRNA1):c.267A>G (p.Pro89=)	CHRNA1	Single nucleotide variant (synonymous variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 332450	NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)	CHRNA1 (R75H)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +2 more	GConflicting classifications of pathogenicity
Select item 257235	NM_000079.4(CHRNA1):c.190-5del	CHRNA1	Deletion (intron variant)	Congenital Myasthenic Syndrome, Dominant/Recessive +6 more	GBenign
Select item 332451	NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)	CHRNA1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome +1 more	GConflicting classifications of pathogenicity
Select item 894736	NM_000079.4(CHRNA1):c.76C>T (p.Arg26Cys)	CHRNA1 (R26C)	Single nucleotide variant (missense variant)	Lethal multiple pterygium syndrome +1 more	GUncertain significance
Select item 894737	NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)	CHRNA1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 332452	NM_000079.4(CHRNA1):c.-37A>G	CHRNA1	Single nucleotide variant (5 prime UTR variant)	CHRNA1-related condition +2 more	GConflicting classifications of pathogenicity

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Items: 49