"Baylor Genetics"[submitter] AND "LOC130060041"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2680800	NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs)	CHRNE, LOC130060041 (R371fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 958734	NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	CHRNE, LOC130060041 (R370fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic/Likely pathogenic
Select item 2680809	NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)	LOC130060041, CHRNE (R371fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 285864	NM_000080.4(CHRNE):c.1093del (p.Ala365fs)	CHRNE, LOC130060041 (A365fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 534252	NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	LOC130060041, CHRNE (P358fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A +2 more	GPathogenic/Likely pathogenic
Select item 434765	NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)	CHRNE, LOC130060041 (R364fs)	Duplication (frameshift variant)	Abnormality of the musculature +4 more	GPathogenic
Select item 2680791	NM_000080.4(CHRNE):c.1090del (p.Arg364fs)	CHRNE, LOC130060041 (R364fs)	Deletion (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1454203	NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)	CHRNE, LOC130060041 (E361fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GPathogenic
Select item 1415746	NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del)	CHRNE, LOC130060041 (P360del)	Microsatellite (inframe_deletion)	Congenital myasthenic syndrome 4A	GUncertain significance
Select item 2680771	NM_000080.4(CHRNE):c.1050_1065dup (p.Ser356fs)	CHRNE, LOC130060041 (S356fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 420092	NM_000080.4(CHRNE):c.1033-1G>C	CHRNE, LOC130060041	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4A +1 more	GPathogenic/Likely pathogenic
Select item 189225	NM_000080.4(CHRNE):c.1033-2A>T	CHRNE, LOC130060041	Single nucleotide variant (splice acceptor variant)	Congenital myasthenic syndrome 4C +1 more	GPathogenic/Likely pathogenic