Related gene-specific medical variations for Gene (Select 84444) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361889	NM_032482.3(DOT1L):c.955C>T (p.Arg319Cys)	DOT1L (R319C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361231	NM_032482.3(DOT1L):c.2691+5G>A	DOT1L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3360011	NM_032482.3(DOT1L):c.3599_3603del (p.Ile1200fs)	DOT1L (I1200fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3359220	NM_032482.3(DOT1L):c.299C>T (p.Thr100Met)	DOT1L (T100M)	Single nucleotide variant (missense variant)	DOT1L-related condition	GPathogenic
Select item 2648968	NM_001300836.3(PLEKHJ1):c.416C>T (p.Pro139Leu)	DOT1L, PLEKHJ1 (P139L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2430026	NM_032482.3(DOT1L):c.1792C>T (p.Gln598Ter)	DOT1L (Q598*)	Single nucleotide variant (nonsense)	Developmental disorder	GUncertain significance
Select item 725649	NM_032482.3(DOT1L):c.81+9C>G	AP3D1, DOT1L +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

ClinVar