"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LMNTD2" - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244779	NC_000011.9:g.(?_532636)_(644674_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 3244777	NC_000011.9:g.(?_216698)_(679836_?)del	ANO9, B4GALNT4 +25 more	Deletion	not provided	GUncertain significance
Select item 3244591	NC_000011.9:g.(?_532636)_(824862_?)dup	EPS8L2, CDHR5 +20 more	Duplication	Costello syndrome	GUncertain significance
Select item 3244518	NC_000011.9:g.(?_216698)_(2906719_?)dup	ANO9, AP2A2 +77 more	Duplication	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2426546	NC_000011.9:g.(?_532636)_(819925_?)dup	CDHR5, CEND1 +20 more	Duplication	Neutral lipid storage myopathy	GUncertain significance
Select item 1443721	NC_000011.9:g.(?_532636)_(695047_?)dup	CDHR5, DEAF1 +11 more	Duplication	not provided	GUncertain significance
Select item 1421885	NC_000011.9:g.(?_216698)_(720766_?)dup	ANO9, B4GALNT4 +27 more	Duplication	Immunodeficiency 39	GUncertain significance
Select item 1017523	NC_000011.9:g.(?_298501)_(4113028_?)dup	DEAF1, MIR210 +89 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 832038	NC_000011.9:g.(?_532616)_(2906985_?)dup	C11orf21, AP2A2 +63 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 830507	NC_000011.10:g.(?_532616)_(795026_?)dup	CDHR5, CEND1 +17 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance