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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 710592	NM_030974.4(SHARPIN):c.1094G>A (p.Arg365His)	SHARPIN (R365H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711023	NM_030974.4(SHARPIN):c.517+9G>T	SHARPIN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 1004495	NC_000008.10:g.(?_145047561)_(145701149_?)dup	TONSL, VPS28 +27 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 665049	NC_000008.10:g.(?_144990335)_(145701149_?)dup	ADCK5, BOP1 +28 more	Duplication	Epidermolysis bullosa simplex 5B, with muscular dystrophy +4 more	GUncertain significance
Select item 652960	NC_000008.10:g.(?_144990325)_(145700664_?)dup	ADCK5, BOP1 +28 more	Duplication	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

ClinVar