"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 723729	NM_020812.4(DOCK6):c.5229C>A (p.Gly1743=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 781455	NM_020812.4(DOCK6):c.4933G>A (p.Val1645Ile)	DOCK6-AS1, DOCK6 (V1645I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 289212	NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala)	DOCK6, DOCK6-AS1 (V1621A +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1206360	NM_020812.4(DOCK6):c.4550C>T (p.Thr1517Met)	DOCK6, DOCK6-AS1 (T1517M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522330	NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=)	DOCK6-AS1, DOCK6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1174753	NM_020812.4(DOCK6):c.4343C>T (p.Pro1448Leu)	DOCK6, DOCK6-AS1 (P1448L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739631	NM_020812.4(DOCK6):c.4253A>G (p.Lys1418Arg)	DOCK6, DOCK6-AS1 (K1453R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 377033	NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met)	DOCK6, DOCK6-AS1 (T1402M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign