"Ambry Genetics"[submitter] AND "DOCK7"[gene] - ClinVar

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1302433	NM_001367561.1(DOCK7):c.6407G>A (p.Arg2136His)	DOCK7 (R2094H +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 2230037	NM_001367561.1(DOCK7):c.6182T>A (p.Leu2061Gln)	DOCK7 (L2050Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389645	NM_001367561.1(DOCK7):c.6157A>G (p.Lys2053Glu)	DOCK7 (K2013E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1354108	NM_001367561.1(DOCK7):c.5906C>T (p.Thr1969Met)	DOCK7 (T1938M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 872293	NM_001367561.1(DOCK7):c.5731A>G (p.Ile1911Val)	DOCK7 (I1869V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2288513	NM_001367561.1(DOCK7):c.5653T>G (p.Phe1885Val)	DOCK7 (F1843V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233941	NM_001367561.1(DOCK7):c.5493+4A>C	DOCK7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1017331	NM_001367561.1(DOCK7):c.5479A>G (p.Lys1827Glu)	DOCK7 (K1787E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1037959	NM_001367561.1(DOCK7):c.5368A>T (p.Met1790Leu)	DOCK7 (M1759L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2280039	NM_001367561.1(DOCK7):c.5356T>C (p.Ser1786Pro)	DOCK7 (S1777P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 574108	NM_001367561.1(DOCK7):c.5172G>A (p.Met1724Ile)	DOCK7 (M1715I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576669	NM_001367561.1(DOCK7):c.5102G>A (p.Arg1701Gln)	DOCK7 (R1670Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1011969	NM_001367561.1(DOCK7):c.5098G>C (p.Glu1700Gln)	DOCK7 (E1660Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2553145	NM_001367561.1(DOCK7):c.4561G>T (p.Ala1521Ser)	DOCK7 (A1512S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 573408	NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala)	DOCK7 (T1446A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475148	NM_001367561.1(DOCK7):c.4415A>G (p.Asp1472Gly)	DOCK7 (D1463G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1019395	NM_001367561.1(DOCK7):c.4394T>C (p.Ile1465Thr)	DOCK7 (I1425T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2537169	NM_001367561.1(DOCK7):c.4141A>T (p.Met1381Leu)	DOCK7 (M1350L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521571	NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter)	DOCK7 (R1349* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 576166	NM_001367561.1(DOCK7):c.4073G>A (p.Arg1358Gln)	DOCK7 (R1358Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 945842	NM_001367561.1(DOCK7):c.4003G>A (p.Val1335Ile)	DOCK7 (V1335I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2297317	NM_001367561.1(DOCK7):c.3965C>T (p.Ala1322Val)	DOCK7 (A1291V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521570	NM_001367561.1(DOCK7):c.3936G>A (p.Thr1312=)	DOCK7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1002674	NM_001367561.1(DOCK7):c.3844G>A (p.Gly1282Arg)	DOCK7 (G1251R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 582642	NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln)	DOCK7 (R1266Q +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 656695	NM_001367561.1(DOCK7):c.3781+4C>G	DOCK7	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1412489	NM_001367561.1(DOCK7):c.3746T>C (p.Ile1249Thr)	DOCK7 (I1218T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1024626	NM_001367561.1(DOCK7):c.3695C>G (p.Pro1232Arg)	DOCK7 (P1201R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1032725	NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr)	DOCK7 (S1230Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 954582	NM_001367561.1(DOCK7):c.3680C>T (p.Pro1227Leu)	DOCK7 (P1196L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 949449	NM_001367561.1(DOCK7):c.3641A>G (p.Asn1214Ser)	DOCK7 (N1214S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475138	NM_001367561.1(DOCK7):c.3508A>G (p.Ile1170Val)	DOCK7 (I1170V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 640279	NM_001367561.1(DOCK7):c.3326C>T (p.Pro1109Leu)	DOCK7 (P1109L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2477759	NM_001367561.1(DOCK7):c.3257A>G (p.Asp1086Gly)	DOCK7 (D1055G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 935638	NM_001367561.1(DOCK7):c.3250G>A (p.Val1084Ile)	DOCK7 (V1053I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 957869	NM_001367561.1(DOCK7):c.3211A>G (p.Asn1071Asp)	DOCK7 (N1040D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 568545	NM_001367561.1(DOCK7):c.2932C>T (p.Arg978Cys)	DOCK7 (R978C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 580886	NM_001367561.1(DOCK7):c.2882G>A (p.Arg961His)	DOCK7 (R961H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1011660	NM_001367561.1(DOCK7):c.2747G>T (p.Arg916Leu)	DOCK7 (R916L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2334361	NM_001367561.1(DOCK7):c.2663G>A (p.Ser888Asn)	DOCK7 (S888N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445702	NM_001367561.1(DOCK7):c.2612G>A (p.Gly871Glu)	DOCK7 (G871E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 541905	NM_001367561.1(DOCK7):c.2578C>A (p.Pro860Thr)	DOCK7 (P860T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 948309	NM_001367561.1(DOCK7):c.2500G>A (p.Gly834Arg)	DOCK7 (G834R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 571504	NM_001367561.1(DOCK7):c.2371C>A (p.Leu791Ile)	DOCK7 (L791I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 978101	NM_001367561.1(DOCK7):c.2035C>T (p.Arg679Trp)	DOCK7 (R679W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1361340	NM_001367561.1(DOCK7):c.1985C>T (p.Pro662Leu)	DOCK7 (P662L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 806147	NM_001367561.1(DOCK7):c.1884T>G (p.Phe628Leu)	DOCK7 (F628L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 835285	NM_001367561.1(DOCK7):c.1800G>A (p.Pro600=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2491898	NM_014495.4(ANGPTL3):c.63A>C (p.Gln21His)	ANGPTL3, DOCK7 (Q21H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229026	NM_014495.4(ANGPTL3):c.217C>A (p.Gln73Lys)	DOCK7, ANGPTL3 (Q73K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263983	NM_014495.4(ANGPTL3):c.305C>T (p.Thr102Ile)	ANGPTL3, DOCK7 (T102I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233699	NM_014495.4(ANGPTL3):c.515A>G (p.Asp172Gly)	ANGPTL3, DOCK7 (D172G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265285	NM_014495.4(ANGPTL3):c.577C>T (p.His193Tyr)	DOCK7, ANGPTL3 (H193Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241182	NM_014495.4(ANGPTL3):c.607C>G (p.Leu203Val)	DOCK7, ANGPTL3 (L203V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547491	NM_014495.4(ANGPTL3):c.679C>T (p.Pro227Ser)	ANGPTL3, DOCK7 (P227S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227642	NM_014495.4(ANGPTL3):c.829A>G (p.Ile277Val)	DOCK7, ANGPTL3 (I277V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2475372	NM_014495.4(ANGPTL3):c.848C>T (p.Thr283Ile)	ANGPTL3, DOCK7 (T283I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244272	NM_014495.4(ANGPTL3):c.941G>C (p.Trp314Ser)	DOCK7, ANGPTL3 (W314S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525900	NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)	ANGPTL3, DOCK7 (E318fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1803843	NM_014495.4(ANGPTL3):c.956A>G (p.Lys319Arg)	ANGPTL3, DOCK7 (K319R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2623332	NM_014495.4(ANGPTL3):c.1069A>G (p.Asn357Asp)	ANGPTL3, DOCK7 (N357D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308369	NM_014495.4(ANGPTL3):c.1142T>C (p.Phe381Ser)	ANGPTL3, DOCK7 (F381S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401812	NM_014495.4(ANGPTL3):c.1218T>G (p.Asp406Glu)	ANGPTL3, DOCK7 (D406E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590124	NM_014495.4(ANGPTL3):c.1309C>A (p.Gln437Lys)	ANGPTL3, DOCK7 (Q437K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1025663	NM_001367561.1(DOCK7):c.1277C>T (p.Thr426Ile)	DOCK7 (T426I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475122	NM_001367561.1(DOCK7):c.1111A>G (p.Thr371Ala)	DOCK7 (T371A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 475172	NM_001367561.1(DOCK7):c.842T>A (p.Ile281Asn)	DOCK7 (I281N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2299404	NM_001367561.1(DOCK7):c.737A>T (p.Glu246Val)	DOCK7 (E246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 806149	NM_001367561.1(DOCK7):c.692G>A (p.Arg231His)	DOCK7 (R231H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2218562	NM_001367561.1(DOCK7):c.691C>A (p.Arg231Ser)	DOCK7 (R231S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 856095	NM_001367561.1(DOCK7):c.613G>A (p.Ala205Thr)	DOCK7 (A205T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 954864	NM_001367561.1(DOCK7):c.569G>A (p.Ser190Asn)	DOCK7 (S190N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1059372	NM_001367561.1(DOCK7):c.535C>T (p.Arg179Cys)	DOCK7 (R179C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1055982	NM_001367561.1(DOCK7):c.390A>G (p.Lys130=)	DOCK7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 649776	NM_001367561.1(DOCK7):c.160G>A (p.Ala54Thr)	DOCK7 (A54T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 475127	NM_001367561.1(DOCK7):c.145G>A (p.Val49Met)	DOCK7 (V49M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 660827	NM_001367561.1(DOCK7):c.38+6T>C	DOCK7, LOC129930655	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance

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Items: 77