"Baylor Genetics"[submitter] AND "LOC130060040"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1492244	NM_000080.4(CHRNE):c.1216_1219+19del	CHRNE, LOC130060040	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1458892	NM_000080.4(CHRNE):c.1219+2T>G	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 3241171	NM_000080.4(CHRNE):c.1219+1G>A	CHRNE, LOC130060040	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 2680797	NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter)	CHRNE, LOC130060040 (Q402*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 969335	NM_000080.4(CHRNE):c.1203del (p.Gln402fs)	CHRNE, LOC130060040 (Q402fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 465857	NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)	CHRNE, LOC130060040	Duplication (nonsense)	Congenital myasthenic syndrome 4A +2 more	GPathogenic
Select item 1070299	NM_000080.4(CHRNE):c.1164del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680796	NM_000080.4(CHRNE):c.1162_1163del (p.Lys388fs)	CHRNE, LOC130060040 (K388fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 18355	NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter)	CHRNE, LOC130060040 (K388*)	Insertion (nonsense)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1071548	NM_000080.4(CHRNE):c.1158dup (p.Lys387fs)	CHRNE, LOC130060040 (K387fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic
Select item 2680810	NM_000080.4(CHRNE):c.1144G>T (p.Glu382Ter)	CHRNE, LOC130060040 (E382*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 4A	GLikely pathogenic