"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RNF170" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653514	NC_000008.10:g.(?_42693095)_(42978030_?)dup	FNTA, HOOK3 +11 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 +1 more	GUncertain significance
Select item 522306	NM_030954.4(RNF170):c.374G>A (p.Ser125Asn)	RNF170 (S125N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 768237	NM_030954.4(RNF170):c.291G>A (p.Pro97=)	RNF170	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2120826	NM_030954.4(RNF170):c.284C>T (p.Ser95Phe)	RNF170 (S11F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3245544	NC_000008.10:g.(?_41518984)_(43054712_?)del	ANK1, AP3M2 +16 more	Deletion	not provided	GPathogenic
Select item 2425642	NC_000008.10:g.(?_41518984)_(43054712_?)dup	ANK1, AP3M2 +16 more	Duplication	Torsion dystonia 6	GUncertain significance
Select item 648521	NC_000008.10:g.(?_42128869)_(43054732_?)dup	CHRNA6, CHRNB3 +12 more	Duplication	Severe combined immunodeficiency due to IKK2 deficiency	GUncertain significance

ClinVar