Related gene-specific medical variations for Gene (Select 57572) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085081	NM_020812.4(DOCK6):c.4817A>G (p.Lys1606Arg)	DOCK6, DOCK6-AS1 (K1606R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085080	NM_020812.4(DOCK6):c.4432C>T (p.Arg1478Cys)	DOCK6, DOCK6-AS1 (R1478C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085078	NM_020812.4(DOCK6):c.3848G>T (p.Arg1283Leu)	DOCK6, DOCK6-AS1 (R1318L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085077	NM_020812.4(DOCK6):c.3785A>G (p.Lys1262Arg)	DOCK6, DOCK6-AS1 (K1297R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085076	NM_020812.4(DOCK6):c.3778G>A (p.Val1260Met)	DOCK6, DOCK6-AS1 (V1295M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085075	NM_020812.4(DOCK6):c.3692T>C (p.Ile1231Thr)	DOCK6, DOCK6-AS1 (I1231T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085074	NM_020812.4(DOCK6):c.3683G>A (p.Arg1228Gln)	DOCK6, DOCK6-AS1 (R1228Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3054531	NM_020812.4(DOCK6):c.4338+6C>T	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	DOCK6-related disorder	GLikely benign
Select item 3046738	NM_020812.4(DOCK6):c.3933C>T (p.Phe1311=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3021383	NM_020812.4(DOCK6):c.4242G>A (p.Gly1414=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015684	NM_020812.4(DOCK6):c.4492-10G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008250	NM_020812.4(DOCK6):c.4356C>T (p.Phe1452=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007814	NM_020812.4(DOCK6):c.4752-16del	DOCK6, DOCK6-AS1	Deletion (intron variant)	not provided	GBenign
Select item 3007145	NM_020812.4(DOCK6):c.4491+8G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004888	NM_020812.4(DOCK6):c.4944+19G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998113	NM_020812.4(DOCK6):c.4452G>A (p.Ser1484=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992506	NM_020812.4(DOCK6):c.4997C>T (p.Ser1666Leu)	DOCK6, DOCK6-AS1 (S1701L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990021	NM_020812.4(DOCK6):c.4751+16T>C	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986448	NM_020812.4(DOCK6):c.4752-17C>T	DOCK6-AS1, DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985309	NM_020812.4(DOCK6):c.4872C>T (p.Ala1624=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981012	NM_020812.4(DOCK6):c.4650+20C>T	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976666	NM_020812.4(DOCK6):c.4962G>A (p.Val1654=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	DOCK6-related disorder +1 more	GLikely benign
Select item 2974894	NM_020812.4(DOCK6):c.5193G>A (p.Gln1731=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968705	NM_020812.4(DOCK6):c.3894+13G>C	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968620	NM_020812.4(DOCK6):c.4353G>C (p.Leu1451=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968517	NM_020812.4(DOCK6):c.4440C>T (p.His1480=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905468	NM_020812.4(DOCK6):c.4824G>A (p.Ala1608=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898843	NM_020812.4(DOCK6):c.4618A>G (p.Met1540Val)	DOCK6, DOCK6-AS1 (M1540V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2898437	NM_020812.4(DOCK6):c.5235+1_5235+7del	DOCK6, DOCK6-AS1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2893563	NM_020812.4(DOCK6):c.4128C>T (p.His1376=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890756	NM_020812.4(DOCK6):c.4056C>T (p.Arg1352=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889525	NM_020812.4(DOCK6):c.3894+9G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887964	NM_020812.4(DOCK6):c.3987C>T (p.Ile1329=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884971	NM_020812.4(DOCK6):c.5001C>T (p.Pro1667=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884520	NM_020812.4(DOCK6):c.3961C>T (p.Leu1321=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883617	NM_020812.4(DOCK6):c.4518C>T (p.Val1506=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882167	NM_020812.4(DOCK6):c.3620C>T (p.Ala1207Val)	DOCK6, DOCK6-AS1 (A1207V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2881234	NM_020812.4(DOCK6):c.4677C>T (p.His1559=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879792	NM_020812.4(DOCK6):c.5088+20G>C	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879382	NM_020812.4(DOCK6):c.4624C>T (p.Leu1542=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877679	NM_020812.4(DOCK6):c.4022-20C>T	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867527	NM_020812.4(DOCK6):c.3712-10C>T	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859675	NM_020812.4(DOCK6):c.4404A>G (p.Arg1468=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858702	NM_020812.4(DOCK6):c.3681C>T (p.Ser1227=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851452	NM_020812.4(DOCK6):c.4168C>T (p.Leu1390=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849800	NM_020812.4(DOCK6):c.3551-17_3551-6del	DOCK6, DOCK6-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2831190	NM_020812.4(DOCK6):c.4146G>C (p.Gly1382=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824831	NM_020812.4(DOCK6):c.5010G>A (p.Glu1670=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822478	NM_020812.4(DOCK6):c.3872G>A (p.Cys1291Tyr)	DOCK6, DOCK6-AS1 (C1326Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815199	NM_020812.4(DOCK6):c.4314C>A (p.Ala1438=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805047	NM_020812.4(DOCK6):c.4821C>T (p.His1607=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804753	NM_020812.4(DOCK6):c.44+20C>T	DOCK6, LOC130063560	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800537	NM_020812.4(DOCK6):c.5221-19A>C	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799590	NM_020812.4(DOCK6):c.4455G>A (p.Leu1485=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798907	NM_020812.4(DOCK6):c.5235+14G>C	DOCK6-AS1, DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798158	NM_020812.4(DOCK6):c.5088+7C>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788621	NM_020812.4(DOCK6):c.4274G>A (p.Gly1425Asp)	DOCK6, DOCK6-AS1 (G1425D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770766	NM_020812.4(DOCK6):c.3712-14C>G	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768824	NM_020812.4(DOCK6):c.4106+19G>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754717	NM_020812.4(DOCK6):c.4695G>C (p.Thr1565=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751562	NM_020812.4(DOCK6):c.4752-5T>A	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732890	NM_020812.4(DOCK6):c.5206A>G (p.Lys1736Glu)	DOCK6, DOCK6-AS1 (K1771E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730940	NM_020812.4(DOCK6):c.5025G>A (p.Gly1675=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724572	NM_020812.4(DOCK6):c.4206G>A (p.Thr1402=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719865	NM_020812.4(DOCK6):c.4192ATC[1] (p.Ile1399del)	DOCK6, DOCK6-AS1 (I1434del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2697364	NM_020812.4(DOCK6):c.5220+8C>T	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2649320	NM_020812.4(DOCK6):c.3789C>T (p.Asn1263=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649319	NM_020812.4(DOCK6):c.4398C>G (p.Leu1466=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649318	NM_020812.4(DOCK6):c.4916A>C (p.His1639Pro)	DOCK6, DOCK6-AS1 (H1639P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649317	NM_020812.4(DOCK6):c.5076C>T (p.Gly1692=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635901	NM_020812.4(DOCK6):c.3995G>C (p.Arg1332Pro)	DOCK6, DOCK6-AS1 (R1332P +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder	GUncertain significance
Select item 2629159	NM_020812.4(DOCK6):c.3719G>A (p.Arg1240His)	DOCK6, DOCK6-AS1 (R1240H +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder	GUncertain significance
Select item 2622104	NM_020812.4(DOCK6):c.4632C>A (p.Asp1544Glu)	DOCK6, DOCK6-AS1 (D1544E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579332	NM_020812.4(DOCK6):c.3751C>T (p.Arg1251Trp)	DOCK6, DOCK6-AS1 (R1251W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576806	NM_020812.4(DOCK6):c.5231G>A (p.Trp1744Ter)	DOCK6, DOCK6-AS1 (W1744* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2559910	NM_020812.4(DOCK6):c.4986C>G (p.Asp1662Glu)	DOCK6, DOCK6-AS1 (D1697E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554193	NM_020812.4(DOCK6):c.4861G>A (p.Val1621Met)	DOCK6, DOCK6-AS1 (V1656M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544196	NM_020812.4(DOCK6):c.3680C>T (p.Ser1227Phe)	DOCK6, DOCK6-AS1 (S1262F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520974	NM_020812.4(DOCK6):c.5182G>A (p.Gly1728Ser)	DOCK6, DOCK6-AS1 (G1763S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471066	NM_020812.4(DOCK6):c.4628G>A (p.Arg1543Gln)	DOCK6, DOCK6-AS1 (R1543Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2428388	NM_020812.4(DOCK6):c.4960G>C (p.Val1654Leu)	DOCK6, DOCK6-AS1 (V1654L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428297	NM_020812.4(DOCK6):c.3801G>A (p.Ala1267=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2421383	NM_020812.4(DOCK6):c.4903G>A (p.Glu1635Lys)	DOCK6, DOCK6-AS1 (E1635K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419936	NM_020812.4(DOCK6):c.4107-7C>G	DOCK6, DOCK6-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2419897	NM_020812.4(DOCK6):c.3959G>A (p.Arg1320Gln)	DOCK6, DOCK6-AS1 (R1320Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416336	NM_020812.4(DOCK6):c.4812C>T (p.Ala1604=)	DOCK6, DOCK6-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2408577	NM_020812.4(DOCK6):c.5173G>A (p.Ala1725Thr)	DOCK6, DOCK6-AS1 (A1725T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405242	NM_018687.7(ANGPTL8):c.364G>C (p.Ala122Pro)	ANGPTL8, DOCK6 (A122P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383573	NM_020812.4(DOCK6):c.3615C>G (p.Asp1205Glu)	DOCK6, DOCK6-AS1 (D1205E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377621	NM_018687.7(ANGPTL8):c.215G>A (p.Arg72His)	ANGPTL8, DOCK6 (R72H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360666	NM_020812.4(DOCK6):c.4054C>T (p.Arg1352Cys)	DOCK6, DOCK6-AS1 (R1387C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348661	NM_020812.4(DOCK6):c.4075C>T (p.His1359Tyr)	DOCK6, DOCK6-AS1 (H1394Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340132	NM_020812.4(DOCK6):c.4615G>A (p.Asp1539Asn)	DOCK6, DOCK6-AS1 (D1539N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337630	NM_020812.4(DOCK6):c.4787G>A (p.Arg1596Gln)	DOCK6, DOCK6-AS1 (R1596Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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