Related gene-specific medical variations for Gene (Select 1140) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3004977	NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 2750683	NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)	CHRNB1, LOC130060147 (M8R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2442188	NM_000747.3(CHRNB1):c.1404C>A (p.Asp468Glu)	CHRNB1 (D468E)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2440036	NM_000747.3(CHRNB1):c.621G>A (p.Gln207=)	CHRNB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2440035	NM_000747.3(CHRNB1):c.428C>A (p.Pro143His)	CHRNB1 (P143H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440034	NM_000747.3(CHRNB1):c.825G>T (p.Glu275Asp)	CHRNB1 (E275D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440032	NM_000747.3(CHRNB1):c.1110G>A (p.Met370Ile)	CHRNB1 (M370I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440031	NM_000747.3(CHRNB1):c.950T>A (p.Val317Asp)	CHRNB1 (V317D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440029	NM_000747.3(CHRNB1):c.58+1G>C	CHRNB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2440028	NM_000747.3(CHRNB1):c.1331C>G (p.Ala444Gly)	CHRNB1 (A444G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067535	NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])	CHRNB1, LOC130060147	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 2038566	NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)	CHRNB1, LOC130060147 (A5T)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 1984864	NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro)	CHRNB1, LOC130060147 (L13P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1417212	NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro)	CHRNB1, LOC130060147 (L9P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404151	NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del)	CHRNB1, LOC130060147	Deletion (inframe_deletion)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 1371696	NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly)	CHRNB1, LOC130060147 (A15G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 1324075	NM_000747.3(CHRNB1):c.403_407delinsGTGCGTGGTGTC (p.Ser135fs)	CHRNB1 (S135fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1324074	NM_000747.3(CHRNB1):c.353+2T>C	CHRNB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1321823	NM_000747.3(CHRNB1):c.42_44delinsAA (p.Ala15fs)	CHRNB1, LOC130060147 (A15fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1135327	NM_000747.3(CHRNB1):c.6C>T (p.Thr2=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1113308	NM_000747.3(CHRNB1):c.9A>G (p.Pro3=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 964055	NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg)	CHRNB1, LOC130060147 (G11R)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 930320	NM_000747.3(CHRNB1):c.686_687insGGG (p.Gly230dup)	CHRNB1	Insertion (inframe_insertion)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 930319	NM_000747.3(CHRNB1):c.687_688insT (p.Gly230fs)	CHRNB1 (G230fs)	Insertion (frameshift variant)	Congenital myasthenic syndrome 2A	GLikely pathogenic
Select item 767608	NM_000747.3(CHRNB1):c.51C>T (p.Leu17=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 2A	GLikely benign
Select item 725792	NM_000747.3(CHRNB1):c.39G>C (p.Leu13=)	CHRNB1, LOC130060147	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 4C +1 more	GConflicting classifications of pathogenicity
Select item 655540	NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val)	CHRNB1, LOC130060147 (A15V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 569406	NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly)	CHRNB1, LOC130060147 (A18G)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 2A +1 more	GUncertain significance
Select item 542753	NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met)	CHRNB1, LOC130060147 (L13M)	Indel (missense variant)	Congenital myasthenic syndrome 2A	GUncertain significance
Select item 18375	NM_000747.3(CHRNB1):c.821_1044del p.Gly274Aspfs	CHRNB1	Deletion (splice acceptor variant +1 more)	Congenital myasthenic syndrome 2C	GPathogenic

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Links from Gene

Items: 30