"Clinical Genetics, Academic Medical Center"[submitter] AND "DOCK6"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261358	NM_020812.4(DOCK6):c.5361+4C>T	DOCK6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 518283	NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2 +1 more	GBenign
Select item 518284	NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val)	DOCK6, DOCK6-AS1 (A1632V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 522330	NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 518285	NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2 +1 more	GBenign
Select item 518286	NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2 +1 more	GBenign
Select item 445548	NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys)	DOCK6-AS1, DOCK6 (R1305C +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2 +1 more	GBenign/Likely benign
Select item 518287	NM_020812.4(DOCK6):c.3894+19G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518288	NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 518289	NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 444446	NM_020812.4(DOCK6):c.3517C>T (p.Arg1173Trp)	DOCK6 (R1173W +1 more)	Single nucleotide variant (missense variant)	DOCK6-related condition +1 more	GLikely benign
Select item 518290	NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1206321	NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)	DOCK6 (L1064fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 518291	NM_020812.4(DOCK6):c.2956-5C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 709959	NM_020812.4(DOCK6):c.1833-8T>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 771212	NM_020812.4(DOCK6):c.1289G>A (p.Arg430His)	DOCK6 (R430H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 261359	NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)	DOCK6 (P250L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1167370	NM_020812.4(DOCK6):c.441G>C (p.Lys147Asn)	DOCK6 (K147N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 261356	NM_020812.4(DOCK6):c.377+12T>A	DOCK6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign

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Items: 20