"PreventionGenetics, part of Exact Sciences"[submitter] AND "DOK7"[gen - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262861	NM_173660.5(DOK7):c.-30G>T	DOK7	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 193509	NM_173660.5(DOK7):c.-6C>G	DOK7	Single nucleotide variant (5 prime UTR variant)	DOK7-related condition +1 more	GBenign/Likely benign
Select item 1169432	NM_173660.5(DOK7):c.54+32_54+33dup	DOK7	Duplication (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign/Likely benign
Select item 701812	NM_173660.5(DOK7):c.54+32_54+33del	DOK7	Deletion (intron variant)	DOK7-related condition +3 more	GBenign
Select item 1612407	NM_173660.5(DOK7):c.54+25_54+26insCG	DOK7	Insertion (intron variant)	DOK7-related condition +2 more	GLikely benign
Select item 262880	NM_173660.5(DOK7):c.54+26G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 703899	NM_173660.5(DOK7):c.54+27G>A	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GLikely benign
Select item 976516	NM_173660.5(DOK7):c.54+28G>T	DOK7	Single nucleotide variant (intron variant)	DOK7-related condition +2 more	GLikely benign
Select item 262881	NM_173660.5(DOK7):c.54+29G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +3 more	GBenign/Likely benign
Select item 1635355	NM_173660.5(DOK7):c.54+30G>A	DOK7	Single nucleotide variant (intron variant)	DOK7-related condition +2 more	GLikely benign
Select item 262883	NM_173660.5(DOK7):c.55-13C>G	DOK7	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 262862	NM_173660.5(DOK7):c.100+36del	DOK7	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262865	NM_173660.5(DOK7):c.101-26G>C	DOK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262864	NM_173660.5(DOK7):c.101-26G>A	DOK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262863	NM_173660.5(DOK7):c.101-11G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 196597	NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)	DOK7 (S45L)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GBenign/Likely benign
Select item 465683	NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)	DOK7 (E60K)	Single nucleotide variant (missense variant +1 more)	DOK7-related condition +3 more	GBenign/Likely benign
Select item 262869	NM_173660.5(DOK7):c.189C>T (p.Cys63=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign/Likely benign
Select item 1566179	NM_173660.5(DOK7):c.201C>T (p.Pro67=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 262870	NM_173660.5(DOK7):c.282C>T (p.His94=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GLikely benign
Select item 262871	NM_173660.5(DOK7):c.296C>T (p.Ala99Val)	DOK7 (A99V)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 449547	NM_173660.5(DOK7):c.331+1G>T	DOK7	Single nucleotide variant (splice donor variant +1 more)	Congenital myasthenic syndrome +5 more	GPathogenic
Select item 196595	NM_173660.5(DOK7):c.331+9C>T	DOK7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 262872	NM_173660.5(DOK7):c.331+22C>T	DOK7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262873	NM_173660.5(DOK7):c.331+27G>A	DOK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262874	NM_173660.5(DOK7):c.331+43G>T	DOK7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262876	NM_173660.5(DOK7):c.332-49C>T	DOK7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262875	NM_173660.5(DOK7):c.332-18T>C	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 3 +3 more	GBenign
Select item 128912	NM_173660.5(DOK7):c.332-4G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +3 more	GBenign/Likely benign
Select item 1589422	NM_173660.5(DOK7):c.480C>T (p.Tyr160=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GLikely benign
Select item 262877	NM_173660.5(DOK7):c.532+18G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +2 more	GBenign/Likely benign
Select item 262879	NM_173660.5(DOK7):c.533-31A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262878	NM_173660.5(DOK7):c.533-29A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 3 +3 more	GBenign
Select item 262882	NM_173660.5(DOK7):c.546C>T (p.Phe182=)	DOK7, LOC126806951 (L179F)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +2 more	GBenign/Likely benign
Select item 128913	NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)	DOK7 (D197N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign
Select item 262884	NM_173660.5(DOK7):c.652+50G>A	DOK7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 262886	NM_173660.5(DOK7):c.653-19A>G	DOK7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262885	NM_173660.5(DOK7):c.653-19A>C	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 978492	NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)	DOK7 (P222L +1 more)	Single nucleotide variant (synonymous variant +2 more)	DOK7-related condition +3 more	GLikely benign
Select item 128914	NM_173660.5(DOK7):c.753G>A (p.Ala251=)	DOK7, LOC129992118 (G248R)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 262887	NM_173660.5(DOK7):c.762G>A (p.Pro254=)	DOK7, LOC129992118 (G251R)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GLikely benign
Select item 262888	NM_173660.5(DOK7):c.772+37G>A	DOK7	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 262889	NM_173660.5(DOK7):c.773-32del	DOK7	Deletion (intron variant)	not specified +1 more	GBenign
Select item 423589	NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)	DOK7 (R261C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +3 more	GBenign
Select item 128915	NM_173660.5(DOK7):c.782G>A (p.Arg261His)	DOK7 (R261H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 10 +4 more	GBenign/Likely benign
Select item 534129	NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)	DOK7 (S271T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 262890	NM_173660.5(DOK7):c.822C>T (p.Asp274=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 128916	NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)	DOK7 (Q296R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 534133	NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)	DOK7 (A302P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 198627	NM_173660.5(DOK7):c.918C>T (p.Ala306=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 534131	NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)	DOK7 (A307T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 262891	NM_173660.5(DOK7):c.921C>T (p.Ala307=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 597374	NM_173660.5(DOK7):c.957C>G (p.Pro319=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128917	NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)	DOK7 (R323C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign
Select item 423389	NM_173660.5(DOK7):c.971C>T (p.Pro324Leu)	DOK7 (P324L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GUncertain significance
Select item 447278	NM_173660.5(DOK7):c.1008G>A (p.Ser336=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition +4 more	GLikely benign
Select item 3048427	NM_173660.5(DOK7):c.1023C>G (p.Ala341=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition	GLikely benign
Select item 281409	NM_173660.5(DOK7):c.1029C>T (p.Gly343=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GConflicting classifications of pathogenicity
Select item 262866	NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)	DOK7 (R364Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign/Likely benign
Select item 3032928	NM_173660.5(DOK7):c.1110C>T (p.Gly370=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition	GLikely benign
Select item 128904	NM_173660.5(DOK7):c.1113A>C (p.Ser371=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 1273	NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	DOK7 (A234fs +2 more)	Duplication (3 prime UTR variant +1 more)	not provided +8 more	GPathogenic
Select item 128905	NM_173660.5(DOK7):c.1134G>A (p.Ala378=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +2 more	GBenign
Select item 128906	NM_173660.5(DOK7):c.1143C>T (p.Pro381=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 640966	NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr)	DOK7 (P390T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition +2 more	GUncertain significance
Select item 128907	NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 262867	NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)	DOK7 (R402W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign/Likely benign
Select item 128908	NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)	DOK7 (P415S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1274	NM_173660.5(DOK7):c.1263dup (p.Ser422fs)	DOK7 (S112fs +2 more)	Duplication (frameshift variant +1 more)	Fetal akinesia deformation sequence 3 +6 more	GPathogenic/Likely pathogenic
Select item 198625	NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)	DOK7 (T438R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition +3 more	GConflicting classifications of pathogenicity
Select item 128909	NM_173660.5(DOK7):c.1317C>T (p.Ser439=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GBenign
Select item 2632196	NM_173660.5(DOK7):c.1330_1361del (p.Ser444fs)	DOK7 (S134fs +2 more)	Deletion (frameshift variant +1 more)	DOK7-related condition	GLikely pathogenic
Select item 128910	NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)	DOK7 (R451W +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 128911	NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)	DOK7 (G461D +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 262868	NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)	DOK7 (S490L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 3 +4 more	GBenign
Select item 704035	NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)	DOK7 (V494I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 3049477	NM_173660.5(DOK7):c.*1G>A	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related condition	GLikely benign
Select item 262860	NM_173660.5(DOK7):c.*16C>T	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1050158	NM_001301071.2(DOK7):c.1499G>A (p.Gly500Glu)	DOK7 (G356E +1 more)	Single nucleotide variant (missense variant)	DOK7-related condition	GLikely benign
Select item 1241416	NM_001301071.2(DOK7):c.1540+10T>C	DOK7	Single nucleotide variant (intron variant)	DOK7-related condition +1 more	GBenign
Select item 3037664	NM_001301071.2(DOK7):c.1541-5dup	DOK7	Duplication (intron variant)	DOK7-related condition	GBenign
Select item 3057972	NM_001301071.2(DOK7):c.1541-5C>T	DOK7	Single nucleotide variant (intron variant)	DOK7-related condition	GLikely benign
Select item 3034441	NM_001301071.2(DOK7):c.1554C>G (p.Pro518=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 3058685	NM_001301071.2(DOK7):c.1587G>A (p.Pro529=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 3038924	NM_001301071.2(DOK7):c.1596G>A (p.Glu532=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 1206514	NM_001301071.2(DOK7):c.1599G>A (p.Ser533=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition +1 more	GBenign/Likely benign
Select item 3032789	NM_001301071.2(DOK7):c.1617C>T (p.Ile539=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 3056558	NM_001301071.2(DOK7):c.1710C>T (p.Leu570=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 3037313	NM_001301071.2(DOK7):c.1746G>A (p.Ala582=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign
Select item 3032035	NM_001301071.2(DOK7):c.1794G>A (p.Ser598=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related condition	GLikely benign

ClinVar

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Items: 90