"Invitae"[submitter] AND "CLEC10A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780396	NM_001330070.2(CLEC10A):c.527C>G (p.Ala176Gly)	CLEC10A (A179G +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711652	NM_001330070.2(CLEC10A):c.412T>C (p.Cys138Arg)	CLEC10A (C165R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2422136	NC_000017.10:g.(?_6328780)_(7606804_?)dup	POLR2A, RNASEK +62 more	Duplication	Very long chain acyl-CoA dehydrogenase deficiency +1 more	GUncertain significance
Select item 1076973	NC_000017.10:g.(?_6589506)_(7128436_?)del	ACADVL, ALOX12 +15 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1020704	NC_000017.10:g.(?_6328780)_(7128416_?)dup	ACADVL, AIPL1 +22 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 831200	NC_000017.10:g.(?_6589506)_(8151374_?)dup	KCNAB3, KCTD11 +81 more	Duplication	Dyskeratosis congenita +1 more	GUncertain significance

ClinVar