"CHRNB1-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 325073	NM_000747.3(CHRNB1):c.-13G>C	CHRNB1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 2630469	NM_000747.3(CHRNB1):c.58+1G>A	CHRNB1	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 2A +1 more	GConflicting classifications of pathogenicity
Select item 959159	NM_000747.3(CHRNB1):c.59-3C>T	CHRNB1	Single nucleotide variant (intron variant)	CHRNB1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 542758	NM_000747.3(CHRNB1):c.564C>T (p.Asp188=)	CHRNB1	Single nucleotide variant (synonymous variant)	CHRNB1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 325101	NM_000747.3(CHRNB1):c.903C>T (p.Thr301=)	CHRNB1	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A +2 more	GConflicting classifications of pathogenicity
Select item 3059057	NM_000747.3(CHRNB1):c.1177C>T (p.Arg393Trp)	CHRNB1 (R393W)	Single nucleotide variant (missense variant)	CHRNB1-related condition	GUncertain significance
Select item 2917759	NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)	CHRNB1 (P402R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 598329	NM_000747.3(CHRNB1):c.1217+9A>G	CHRNB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 770036	NM_000747.3(CHRNB1):c.1217+10C>G	CHRNB1	Single nucleotide variant (intron variant)	CHRNB1-related condition +1 more	GBenign/Likely benign
Select item 2634886	NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)	CHRNB1 (R469C)	Single nucleotide variant (missense variant)	CHRNB1-related condition +1 more	GUncertain significance