Related gene-specific medical variations for Gene (Select 8943) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242664	NC_000019.9:g.(?_2102172)_(2111351_?)dup	AP3D1	Duplication	not provided	GUncertain significance
Select item 1706797	NM_001261826.3(AP3D1):c.-194G>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1706726	NM_001261826.3(AP3D1):c.-201C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1316661	NM_001261826.3(AP3D1):c.-177C>G	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1230683	NM_001261826.3(AP3D1):c.-182C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 725649	NM_032482.3(DOT1L):c.81+9C>G	AP3D1, DOT1L +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar