ClinVar for MedGen (Select 481812) - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068273	NM_020812.4(DOCK6):c.1269_1285dup (p.Arg429fs)	DOCK6 (R429fs)	Duplication (frameshift variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2688966	NM_020812.4(DOCK6):c.292G>A (p.Gly98Arg)	DOCK6 (G98R)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2688965	NM_020812.4(DOCK6):c.3125T>A (p.Met1042Lys)	DOCK6 (M1042K +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2671790	NM_020812.4(DOCK6):c.804C>T (p.Leu268=)	DOCK6	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2572425	NM_020812.4(DOCK6):c.5615G>C (p.Arg1872Pro)	DOCK6 (R1872P +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2445975	NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)	DOCK6 (C1061fs +1 more)	Deletion (frameshift variant)	Adams-Oliver syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 2440986	NM_020812.4(DOCK6):c.521G>A (p.Arg174His)	DOCK6 (R174H)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2440985	NM_020812.4(DOCK6):c.3616A>G (p.Ile1206Val)	DOCK6, DOCK6-AS1 (I1206V +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 2429276	NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del	DOCK6	Deletion	Adams-Oliver syndrome 2	GLikely pathogenic
Select item 2416034	NM_020812.4(DOCK6):c.4339-8G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1902465	NM_020812.4(DOCK6):c.5272G>A (p.Gly1758Ser)	DOCK6 (G1793S +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2 +1 more	GUncertain significance
Select item 1708249	NM_020812.4(DOCK6):c.5616dup (p.Lys1873Ter)	DOCK6 (K1873* +1 more)	Duplication (nonsense)	Adams-Oliver syndrome 2	GPathogenic
Select item 1705622	NM_020812.4(DOCK6):c.550C>T (p.Arg184Ter)	DOCK6 (R184*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1676533	NM_020812.4(DOCK6):c.4203+2T>C	DOCK6, DOCK6-AS1	Single nucleotide variant (splice donor variant)	Adams-Oliver syndrome 2	GLikely pathogenic
Select item 1641623	NM_020812.4(DOCK6):c.1833-19C>G	DOCK6	Single nucleotide variant (intron variant)	Adams-Oliver syndrome 2 +1 more	GBenign/Likely benign
Select item 1436335	NM_020812.4(DOCK6):c.449C>T (p.Pro150Leu)	DOCK6 (P150L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414519	NM_020812.4(DOCK6):c.4198G>A (p.Val1400Met)	DOCK6, DOCK6-AS1 (V1435M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1358682	NM_020812.4(DOCK6):c.3052C>T (p.Arg1018Trp)	DOCK6 (R1018W +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder +3 more	GUncertain significance
Select item 1322762	NM_020812.4(DOCK6):c.4106+1G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (splice donor variant)	Adams-Oliver syndrome 2	GPathogenic
Select item 1322760	NM_020812.4(DOCK6):c.5783_5790del (p.Lys1928fs)	DOCK6 (K1928fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 1320060	NM_020812.4(DOCK6):c.1300del (p.Gln434fs)	DOCK6 (Q434fs)	Deletion (frameshift variant)	Adams-Oliver syndrome 2	GPathogenic
Select item 1320059	NM_020812.4(DOCK6):c.1396C>T (p.Arg466Ter)	DOCK6 (R466*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 2	GPathogenic
Select item 1319695	NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter)	DOCK6, DOCK6-AS1 (R1338* +1 more)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 1206321	NM_020812.4(DOCK6):c.3190_3191del (p.Leu1064fs)	DOCK6 (L1064fs +1 more)	Deletion (frameshift variant)	Adams-Oliver syndrome 2 +2 more	GPathogenic
Select item 1174644	NM_020812.4(DOCK6):c.2629C>T (p.Arg877Cys)	DOCK6 (R877C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1032862	NM_020812.4(DOCK6):c.6128G>A (p.Arg2043Gln)	DOCK6 (R2078Q +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2 +2 more	GUncertain significance
Select item 1028692	NM_020812.4(DOCK6):c.5345T>C (p.Ile1782Thr)	DOCK6 (I1817T +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 1028690	NM_020812.4(DOCK6):c.281C>T (p.Thr94Ile)	DOCK6 (T94I)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 1028688	NM_020812.4(DOCK6):c.1987C>T (p.Gln663Ter)	DOCK6 (Q663*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 2	GLikely pathogenic
Select item 1028687	NM_020812.4(DOCK6):c.100C>G (p.His34Asp)	DOCK6 (H34D)	Single nucleotide variant (missense variant)	DOCK6-related disorder +2 more	GUncertain significance
Select item 982669	NM_020812.4(DOCK6):c.6014G>A (p.Arg2005His)	DOCK6 (R2005H +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2	GUncertain significance
Select item 975221	NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu)	DOCK6, DOCK6-AS1 (H1739L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 771512	NM_020812.4(DOCK6):c.2506G>A (p.Val836Ile)	DOCK6 (V836I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 771213	NM_020812.4(DOCK6):c.885C>T (p.Asn295=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 771212	NM_020812.4(DOCK6):c.1289G>A (p.Arg430His)	DOCK6 (R430H)	Single nucleotide variant (missense variant)	DOCK6-related disorder +2 more	GLikely benign
Select item 739241	NM_020812.4(DOCK6):c.4368G>A (p.Thr1456=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2 +1 more	GLikely benign
Select item 737455	NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=)	DOCK6	Single nucleotide variant (synonymous variant)	Adams-Oliver syndrome 2 +2 more	GLikely benign
Select item 620466	NM_020812.4(DOCK6):c.387C>G (p.Tyr129Ter)	DOCK6 (Y129*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 585145	NM_020812.4(DOCK6):c.6097C>T (p.Leu2033Phe)	DOCK6 (L2033F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 523606	NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser)	DOCK6 (G702S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523599	NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile)	DOCK6 (V923I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 522950	NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs)	DOCK6, DOCK6-AS1 (E1609fs +1 more)	Deletion (frameshift variant)	Adams-Oliver syndrome 2	GPathogenic
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 518291	NM_020812.4(DOCK6):c.2956-5C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 518290	NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	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 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 518287	NM_020812.4(DOCK6):c.3894+19G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided +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 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 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 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 499282	NM_020812.4(DOCK6):c.705C>G (p.Tyr235Ter)	DOCK6 (Y235*)	Single nucleotide variant (nonsense)	Adams-Oliver syndrome 2 +1 more	GPathogenic/Likely pathogenic
Select item 445548	NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys)	DOCK6, DOCK6-AS1 (R1305C +1 more)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 2 +1 more	GBenign/Likely benign
Select item 264541	NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)	NOTCH1 (G661S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
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 261358	NM_020812.4(DOCK6):c.5361+4C>T	DOCK6	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 261356	NM_020812.4(DOCK6):c.377+12T>A	DOCK6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 253048	NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys)	DOCK6 (E1052K +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder	GUncertain significance
Select item 253047	NM_020812.4(DOCK6):c.5939+2T>C	DOCK6	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	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
Select item 235741	NM_020812.4(DOCK6):c.4216T>G (p.Ser1406Ala)	DOCK6, DOCK6-AS1 (S1406A +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder +2 more	GUncertain significance
Select item 202182	NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln)	DOCK6, DOCK6-AS1 (R1490Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 55814	NM_020812.4(DOCK6):c.2520dup (p.Arg841fs)	DOCK6 (R841fs)	Duplication (frameshift variant)	Adams-Oliver syndrome 2	GPathogenic
Select item 31128	NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter)	DOCK6 (D416*)	Duplication (nonsense)	Adams-Oliver syndrome 2	GPathogenic

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Items: 67