ClinVar for Gene (Select 85440) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372708	NM_001367561.1(DOCK7):c.2107C>A (p.Pro703Thr)	DOCK7 (P703T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369703	NM_001367561.1(DOCK7):c.109C>T (p.Leu37Phe)	DOCK7 (L37F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365741	NM_001367561.1(DOCK7):c.856G>A (p.Ala286Thr)	DOCK7 (A286T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360875	NM_001367561.1(DOCK7):c.2755A>G (p.Ile919Val)	DOCK7 (I919V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360555	NM_001367561.1(DOCK7):c.3871A>C (p.Met1291Leu)	DOCK7 (M1260L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359722	NM_001367561.1(DOCK7):c.997A>G (p.Ile333Val)	DOCK7 (I333V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349741	NM_001367561.1(DOCK7):c.1691T>C (p.Leu564Pro)	DOCK7 (L564P)	Single nucleotide variant (missense variant)	DOCK7-related disorder	GUncertain significance
Select item 3349167	NM_001367561.1(DOCK7):c.-20TCGCCG[3]	DOCK7, LOC129930655	Microsatellite (5 prime UTR variant)	not specified	GBenign
Select item 3348003	NM_001367561.1(DOCK7):c.4527del (p.Val1510fs)	DOCK7 (V1470fs +3 more)	Deletion (frameshift variant)	DOCK7-related disorder	GLikely pathogenic
Select item 3342219	NM_001367561.1(DOCK7):c.3168A>T (p.Ile1056=)	DOCK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340384	NM_014495.4(ANGPTL3):c.931+2dup	ANGPTL3, DOCK7	Duplication (intron variant +1 more)	not provided	GUncertain significance
Select item 3336883	NM_001367561.1(DOCK7):c.3663_3664del (p.His1223fs)	DOCK7 (H1192fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3294194	NM_014495.4(ANGPTL3):c.860A>T (p.His287Leu)	ANGPTL3, DOCK7 (H287L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294192	NM_014495.4(ANGPTL3):c.1178A>C (p.Asn393Thr)	ANGPTL3, DOCK7 (N393T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294190	NM_014495.4(ANGPTL3):c.257C>T (p.Ser86Leu)	ANGPTL3, DOCK7 (S86L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3294187	NM_014495.4(ANGPTL3):c.557A>G (p.Tyr186Cys)	ANGPTL3, DOCK7 (Y186C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273413	NM_001367561.1(DOCK7):c.5826G>T (p.Met1942Ile)	DOCK7 (M1911I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273412	NM_001367561.1(DOCK7):c.3723G>C (p.Leu1241Phe)	DOCK7 (L1210F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273410	NM_001367561.1(DOCK7):c.199C>A (p.His67Asn)	DOCK7 (H67N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273409	NM_001367561.1(DOCK7):c.796C>G (p.Leu266Val)	DOCK7 (L266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273408	NM_001367561.1(DOCK7):c.1786A>G (p.Ser596Gly)	DOCK7 (S596G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273407	NM_001367561.1(DOCK7):c.2048G>C (p.Gly683Ala)	DOCK7 (G683A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3273406	NM_001367561.1(DOCK7):c.2677C>T (p.Arg893Cys)	DOCK7 (R893C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255259	NM_001367561.1(DOCK7):c.1036-328C>T	DOCK7	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3253386	NM_001367561.1(DOCK7):c.3577G>A (p.Glu1193Lys)	DOCK7 (E1162K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247843	NC_000001.10:g.(?_62994928)_(63048945_?)del	DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 3247842	NC_000001.10:g.(?_62976228)_(63153935_?)del	ANGPTL3, DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 3247841	NC_000001.10:g.(?_63027268)_(63027394_?)del	DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3118624	NM_014495.4(ANGPTL3):c.40G>C (p.Val14Leu)	ANGPTL3, DOCK7 (V14L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118619	NM_014495.4(ANGPTL3):c.386A>G (p.Glu129Gly)	ANGPTL3, DOCK7 (E129G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118617	NM_014495.4(ANGPTL3):c.349T>G (p.Ser117Ala)	ANGPTL3, DOCK7 (S117A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118610	NM_014495.4(ANGPTL3):c.291G>T (p.Lys97Asn)	ANGPTL3, DOCK7 (K97N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3118605	NM_014495.4(ANGPTL3):c.1365T>G (p.Asp455Glu)	ANGPTL3, DOCK7 (D455E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085099	NM_001367561.1(DOCK7):c.5779G>A (p.Asp1927Asn)	DOCK7 (D1918N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085098	NM_001367561.1(DOCK7):c.469G>A (p.Val157Ile)	DOCK7 (V157I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085097	NM_001367561.1(DOCK7):c.4663C>T (p.Leu1555Phe)	DOCK7 (L1515F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085093	NM_001367561.1(DOCK7):c.3583G>A (p.Ala1195Thr)	DOCK7 (A1195T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085092	NM_001367561.1(DOCK7):c.3485C>T (p.Ser1162Phe)	DOCK7 (S1162F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085091	NM_001367561.1(DOCK7):c.1928A>G (p.His643Arg)	DOCK7 (H643R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067984	NM_001367561.1(DOCK7):c.884del (p.Lys295fs)	DOCK7 (K295fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 3067856	NM_001367561.1(DOCK7):c.4120-1G>T	DOCK7	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3058367	NM_001367561.1(DOCK7):c.1683-12066T>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	DOCK7-related disorder	GLikely benign
Select item 3058143	NM_014495.4(ANGPTL3):c.691T>C (p.Leu231=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	ANGPTL3-related disorder	GLikely benign
Select item 3041233	NM_001367561.1(DOCK7):c.1801-1544A>T	DOCK7	Single nucleotide variant (synonymous variant +1 more)	DOCK7-related disorder	GLikely benign
Select item 3038243	NM_001367561.1(DOCK7):c.1872-10_1872-9del	DOCK7	Deletion (intron variant)	DOCK7-related disorder	GBenign
Select item 3035727	NM_001367561.1(DOCK7):c.1801-1585C>T	DOCK7 (L614F)	Single nucleotide variant (missense variant +1 more)	DOCK7-related disorder	GLikely benign
Select item 3032322	NM_014495.4(ANGPTL3):c.69T>C (p.Asn23=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	ANGPTL3-related disorder	GLikely benign
Select item 3026921	NM_001367561.1(DOCK7):c.1502G>A (p.Arg501Gln)	DOCK7 (R501Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023897	NM_001367561.1(DOCK7):c.3960T>C (p.Phe1320=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3022215	NM_001367561.1(DOCK7):c.1905G>A (p.Lys635=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3021187	NM_001367561.1(DOCK7):c.5361+14_5361+19dup	DOCK7	Duplication (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3020039	NM_001367561.1(DOCK7):c.4119+15T>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3019626	NM_001367561.1(DOCK7):c.1116+11dup	DOCK7	Duplication (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3019218	NM_001367561.1(DOCK7):c.2767-18T>C	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3017786	NM_001367561.1(DOCK7):c.5493+13A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3017027	NM_001367561.1(DOCK7):c.5362-18_5362-16del	DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3015582	NM_001367561.1(DOCK7):c.2767-13A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3014685	NM_001367561.1(DOCK7):c.2949+11A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3012740	NM_001367561.1(DOCK7):c.145-5C>T	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3012486	NM_001367561.1(DOCK7):c.4924-18T>C	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3011190	NM_001367561.1(DOCK7):c.2308T>C (p.Leu770=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3006953	NM_001367561.1(DOCK7):c.321-4del	DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23	GBenign
Select item 3004780	NM_001367561.1(DOCK7):c.48A>C (p.Ala16=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3001752	NM_001367561.1(DOCK7):c.945A>G (p.Pro315=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3001501	NM_001367561.1(DOCK7):c.2011-13T>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 3001188	NM_001367561.1(DOCK7):c.1059A>G (p.Gly353=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2999069	NM_001367561.1(DOCK7):c.3613C>T (p.Leu1205=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2998414	NM_001367561.1(DOCK7):c.1035+11T>C	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2994025	NM_001367561.1(DOCK7):c.4476+9G>A	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2992505	NM_001367561.1(DOCK7):c.4120-16A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2990906	NM_001367561.1(DOCK7):c.3408dup (p.Pro1137fs)	DOCK7 (P1137fs +1 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 2985654	NM_001367561.1(DOCK7):c.2869C>T (p.Arg957Ter)	DOCK7 (R926* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 2983714	NM_001367561.1(DOCK7):c.732+19A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2971185	NM_014495.4(ANGPTL3):c.1326C>T (p.Tyr442=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969500	NM_001367561.1(DOCK7):c.3045+11A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2969377	NM_001367561.1(DOCK7):c.5217+12C>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2963970	NM_001367561.1(DOCK7):c.4782A>G (p.Lys1594=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2963362	NM_001367561.1(DOCK7):c.1851A>T (p.Thr617=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2962593	NM_001367561.1(DOCK7):c.4428T>C (p.Ala1476=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2960994	NM_001367561.1(DOCK7):c.1426-4T>C	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2959742	NM_014495.4(ANGPTL3):c.1092G>C (p.Ala364=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959596	NM_001367561.1(DOCK7):c.5556C>T (p.Phe1852=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2959252	NM_001367561.1(DOCK7):c.3611+19A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2956121	NM_001367561.1(DOCK7):c.390-20T>A	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2956120	NM_001367561.1(DOCK7):c.390-20_390-19insTC	DOCK7	Insertion (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2913291	NM_001367561.1(DOCK7):c.2199+17_2199+19del	DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2911973	NM_001367561.1(DOCK7):c.886-25_886-19del	DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2909738	NM_001367561.1(DOCK7):c.4120-10T>C	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2908681	NM_001367561.1(DOCK7):c.1117-19A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2906424	NM_001367561.1(DOCK7):c.1578G>A (p.Pro526=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2899636	NM_001367561.1(DOCK7):c.4686C>T (p.Ser1562=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2898941	NM_001367561.1(DOCK7):c.3366A>G (p.Leu1122=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2895111	NM_001367561.1(DOCK7):c.390-9C>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2894743	NM_014495.4(ANGPTL3):c.243T>C (p.Ser81=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893114	NM_014495.4(ANGPTL3):c.835+1G>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2892615	NM_001367561.1(DOCK7):c.2337A>G (p.Ser779=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2891825	NM_001367561.1(DOCK7):c.2997C>T (p.Ser999=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GLikely benign

<< First< Prev

Page of 10