"OMIM"[submitter] AND "DOCK6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 253047	NM_020812.4(DOCK6):c.5939+2T>C	DOCK6	Single nucleotide variant (splice donor variant)	Adams-Oliver syndrome 2 +2 more	GPathogenic
Select item 55815	NM_020812.4(DOCK6):c.4107-1G>C	DOCK6-AS1, DOCK6	Single nucleotide variant (splice acceptor variant)	Adams-Oliver syndrome 2	GPathogenic
Select item 253048	NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)	DOCK6 (E1052K +1 more)	Single nucleotide variant (missense variant)	DOCK6-related condition	GUncertain significance
Select item 55814	NM_020812.4(DOCK6):c.2520dup (p.Arg841fs)	DOCK6 (R841fs)	Duplication (frameshift variant)	Adams-Oliver syndrome 2	GPathogenic
Select item 183335	NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs)	DOCK6 (T455fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 2	GLikely pathogenic
Select item 31128	NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)	DOCK6 (D416*)	Duplication (nonsense)	Adams-Oliver syndrome 2	GPathogenic
Select item 253046	NM_020812.4(DOCK6):c.788T>A (p.Val263Asp)	DOCK6 (V263D)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GPathogenic

ClinVar