"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MAP7D3" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 744843	NM_024597.4(MAP7D3):c.2194-5C>T	MAP7D3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 719311	NM_024597.4(MAP7D3):c.2123G>A (p.Arg708Gln)	MAP7D3 (R673Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726368	NM_024597.4(MAP7D3):c.1163C>T (p.Ala388Val)	MAP7D3 (A388V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783915	NM_024597.4(MAP7D3):c.1011A>G (p.Ser337=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 790799	NM_024597.4(MAP7D3):c.765G>A (p.Gln255=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741498	NM_024597.4(MAP7D3):c.429A>G (p.Thr143=)	MAP7D3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789502	NM_024597.4(MAP7D3):c.347G>A (p.Arg116Gln)	MAP7D3 (R116Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3245190	NC_000023.10:g.(?_135288592)_(135741574_?)del	ADGRG4, BRS3 +5 more	Deletion	X-linked myopathy with postural muscle atrophy	GPathogenic
Select item 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	ADGRG4, ARHGEF6 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +2 more	GPathogenic

ClinVar