ClinVar for Gene (Select 57572) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085089	NM_020812.4(DOCK6):c.985G>C (p.Val329Leu)	DOCK6 (V329L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085088	NM_020812.4(DOCK6):c.775C>G (p.Gln259Glu)	DOCK6 (Q259E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085087	NM_020812.4(DOCK6):c.746G>A (p.Arg249His)	DOCK6 (R249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3085086	NM_020812.4(DOCK6):c.5818C>G (p.Pro1940Ala)	DOCK6 (P1940A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085085	NM_020812.4(DOCK6):c.5741G>A (p.Arg1914Gln)	DOCK6 (R1914Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085084	NM_020812.4(DOCK6):c.5522T>C (p.Phe1841Ser)	DOCK6 (F1841S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085083	NM_020812.4(DOCK6):c.551G>A (p.Arg184Gln)	DOCK6 (R184Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085082	NM_020812.4(DOCK6):c.5372C>T (p.Thr1791Met)	DOCK6 (T1826M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3085072	NM_020812.4(DOCK6):c.3300T>A (p.Ser1100Arg)	DOCK6 (S1135R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085070	NM_020812.4(DOCK6):c.3220G>A (p.Val1074Met)	DOCK6 (V1074M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085069	NM_020812.4(DOCK6):c.3089C>T (p.Ser1030Leu)	DOCK6 (S1030L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085068	NM_020812.4(DOCK6):c.3050T>G (p.Val1017Gly)	DOCK6 (V1017G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085067	NM_020812.4(DOCK6):c.2581G>A (p.Ala861Thr)	DOCK6 (A861T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085066	NM_020812.4(DOCK6):c.2344A>G (p.Lys782Glu)	DOCK6 (K782E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085065	NM_020812.4(DOCK6):c.2181C>A (p.Phe727Leu)	DOCK6 (F727L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085064	NM_020812.4(DOCK6):c.1820T>C (p.Val607Ala)	DOCK6 (V607A)	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 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 3062382	GRCh37/hg19 19p13.2(chr19:11270866-11347346)x3	DOCK6, KANK2	Copy number gain	not specified	GUncertain significance
Select item 3061167	NM_020812.4(DOCK6):c.5466C>G (p.Ile1822Met)	DOCK6 (I1822M +1 more)	Single nucleotide variant (missense variant)	DOCK6-related disorder	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 3052569	NM_020812.4(DOCK6):c.5529C>T (p.Arg1843=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3052244	NM_020812.4(DOCK6):c.397G>A (p.Ala133Thr)	DOCK6 (A133T)	Single nucleotide variant (missense variant)	DOCK6-related disorder	GUncertain significance
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 3045506	NM_020812.4(DOCK6):c.99C>T (p.Pro33=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3044096	NM_020812.4(DOCK6):c.2096G>A (p.Trp699Ter)	DOCK6 (W699*)	Single nucleotide variant (nonsense)	DOCK6-related disorder	GLikely pathogenic
Select item 3037399	NM_020812.4(DOCK6):c.5274C>A (p.Gly1758=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3036973	NM_020812.4(DOCK6):c.874-3C>T	DOCK6	Single nucleotide variant (intron variant)	DOCK6-related disorder	GLikely benign
Select item 3036704	NM_020812.4(DOCK6):c.720+4G>A	DOCK6	Single nucleotide variant (intron variant)	DOCK6-related disorder	GLikely benign
Select item 3036548	NM_020812.4(DOCK6):c.2955+3G>A	DOCK6	Single nucleotide variant (intron variant)	DOCK6-related disorder	GLikely benign
Select item 3034480	NM_020812.4(DOCK6):c.2691C>T (p.Asp897=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3033222	NM_020812.4(DOCK6):c.459C>T (p.Val153=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3033120	NM_020812.4(DOCK6):c.5688+10G>T	DOCK6	Single nucleotide variant (intron variant)	DOCK6-related disorder	GLikely benign
Select item 3031481	NM_020812.4(DOCK6):c.1594A>G (p.Ile532Val)	DOCK6 (I532V)	Single nucleotide variant (missense variant)	DOCK6-related disorder	GUncertain significance
Select item 3029472	NM_020812.4(DOCK6):c.2010C>T (p.Gly670=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder	GLikely benign
Select item 3026830	NM_020812.4(DOCK6):c.2965C>G (p.Leu989Val)	DOCK6 (L1024V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023981	NM_020812.4(DOCK6):c.2719-16C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021438	NM_020812.4(DOCK6):c.3510G>A (p.Ser1170=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	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 3020346	NM_020812.4(DOCK6):c.5689-16T>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017892	NM_020812.4(DOCK6):c.1698C>G (p.Ser566=)	DOCK6	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 3014488	NM_020812.4(DOCK6):c.1083G>T (p.Leu361Phe)	DOCK6 (L361F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012012	NM_020812.4(DOCK6):c.5496C>T (p.Tyr1832=)	DOCK6	Single nucleotide variant (synonymous 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 3007393	NM_020812.4(DOCK6):c.2074-14C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3007112	NM_020812.4(DOCK6):c.2555-13A>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007091	NM_020812.4(DOCK6):c.1221C>T (p.Ser407=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006366	NM_020812.4(DOCK6):c.308+12C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006179	NM_020812.4(DOCK6):c.6101+15G>A	DOCK6	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 3003966	NM_020812.4(DOCK6):c.1252G>A (p.Glu418Lys)	DOCK6 (E418K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003301	NM_020812.4(DOCK6):c.1971+9T>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001827	NM_020812.4(DOCK6):c.495C>T (p.Gly165=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000270	NM_020812.4(DOCK6):c.5771C>G (p.Pro1924Arg)	DOCK6 (P1924R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999172	NM_020812.4(DOCK6):c.2350G>C (p.Val784Leu)	DOCK6 (V784L)	Single nucleotide variant (missense variant)	DOCK6-related disorder +1 more	GUncertain significance
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 2993638	NM_020812.4(DOCK6):c.2762G>A (p.Ser921Asn)	DOCK6 (S921N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993602	NM_020812.4(DOCK6):c.969C>T (p.Arg323=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993559	NM_020812.4(DOCK6):c.1644-5C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993495	NM_020812.4(DOCK6):c.5362-12C>T	DOCK6	Single nucleotide variant (intron 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 2992075	NM_020812.4(DOCK6):c.3240+10C>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2988503	NM_020812.4(DOCK6):c.1832+19G>T	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988339	NM_020812.4(DOCK6):c.3052C>A (p.Arg1018=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2987854	NM_020812.4(DOCK6):c.2991G>A (p.Leu997=)	DOCK6	Single nucleotide variant (synonymous variant)	DOCK6-related disorder +1 more	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 2985999	NM_020812.4(DOCK6):c.1659G>A (p.Val553=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985440	NM_020812.4(DOCK6):c.132+20G>A	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 2984870	NM_020812.4(DOCK6):c.5361+15T>C	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981196	NM_020812.4(DOCK6):c.2393-8C>T	DOCK6	Single nucleotide variant (intron 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 2980982	NM_020812.4(DOCK6):c.1644-10C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980577	NM_020812.4(DOCK6):c.1024-14C>A	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980563	NM_020812.4(DOCK6):c.507+12C>G	DOCK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977782	NM_020812.4(DOCK6):c.2667C>T (p.Ala889=)	DOCK6	Single nucleotide variant (synonymous 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 2975754	NM_020812.4(DOCK6):c.5955G>A (p.Leu1985=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975326	NM_020812.4(DOCK6):c.6013C>T (p.Arg2005Cys)	DOCK6 (R2040C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975109	NM_020812.4(DOCK6):c.5442C>T (p.Asp1814=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	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 2972238	NM_020812.4(DOCK6):c.2403C>T (p.Gly801=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971196	NM_020812.4(DOCK6):c.717C>T (p.Asp239=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969450	NM_020812.4(DOCK6):c.5236-18C>A	DOCK6	Single nucleotide variant (intron 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 2968621	NM_020812.4(DOCK6):c.3240+15C>T	DOCK6	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 2968040	NM_020812.4(DOCK6):c.1254G>A (p.Glu418=)	DOCK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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