"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "C2CD2L" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 724766	NM_001290474.2(C2CD2L):c.211C>A (p.Arg71=)	C2CD2L, LOC130006889	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776665	NM_001290474.2(C2CD2L):c.451-8G>A	C2CD2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3244710	NC_000011.9:g.(?_118007742)_(119170491_?)del	ABCG4, ARCN1 +36 more	Deletion	not provided	GPathogenic
Select item 3244705	NC_000011.9:g.(?_118007742)_(119170491_?)dup	ABCG4, ARCN1 +36 more	Duplication	Atrial fibrillation, familial, 14	GUncertain significance
Select item 2425315	NC_000011.9:g.(?_118967708)_(119103425_?)dup	ABCG4, C2CD2L +6 more	Duplication	RASopathy	GUncertain significance
Select item 2422557	NC_000011.9:g.(?_117209303)_(120133495_?)dup	ABCG4, ARCN1 +54 more	Duplication	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	RASopathy +5 more	GUncertain significance
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	RNF26, TAGLN +73 more	Duplication	not provided	GUncertain significance
Select item 833331	NC_000011.9:g.(?_118967698)_(119170501_?)dup	ABCG4, C2CD2L +6 more	Duplication	DPAGT1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 659604	NC_000011.9:g.(?_118007722)_(119170511_?)del	DDX6, DPAGT1 +36 more	Deletion	Long QT syndrome 10	GUncertain significance
Select item 652390	NC_000011.9:g.(?_118967698)_(119170501_?)del	ABCG4, C2CD2L +6 more	Deletion	DPAGT1-congenital disorder of glycosylation +1 more	GPathogenic