Related gene-specific medical variations for Gene (Select 1134) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362606	NM_000079.4(CHRNA1):c.440_444del (p.Ser146_Tyr147insTer)	CHRNA1	Deletion (nonsense)	Congenital myasthenic syndrome 1A	GLikely pathogenic
Select item 3247275	NC_000002.11:g.(?_175612852)_(175629122_?)dup	CHRNA1	Duplication	Lethal multiple pterygium syndrome	GUncertain significance
Select item 3247274	NC_000002.11:g.(?_175612852)_(175619162_?)del	CHRNA1	Deletion	Lethal multiple pterygium syndrome	GPathogenic
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 2684155	NM_000079.4(CHRNA1):c.-6T>C	CHRNA1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2576013	NM_000079.4(CHRNA1):c.235-270G>T	CHRNA1	Single nucleotide variant (intron variant +1 more)	not provided	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 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 1809742	NM_000079.4(CHRNA1):c.1312T>C (p.Cys438Arg)	CHRNA1 (C438R +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 688740	GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1	CHRNA1	Copy number loss	not provided	GPathogenic
Select item 687895	GRCh37/hg19 2q31.1(chr2:175578577-175617380)x1	CHRNA1	Copy number loss	not provided	GPathogenic
Select item 257236	NM_000079.4(CHRNA1):c.235-358T>C	CHRNA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 257233	NM_000079.4(CHRNA1):c.1243-38C>T	CHRNA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 257229	NM_000079.4(CHRNA1):c.-17A>C	CHRNA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 257228	NM_000079.4(CHRNA1):c.-13G>A	CHRNA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 135654	NM_000079.4(CHRNA1):c.737C>A (p.Ser246Tyr)	CHRNA1 (S271Y +1 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, slow-channel congenital	GPathogenic