"GeneDx"[submitter] AND "DOK7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 1181261	NC_000004.12:g.3463025del	DOK7	Deletion	not provided	GBenign
Select item 1273079	NC_000004.12:g.3463046G>T	DOK7	Single nucleotide variant	not provided	GBenign
Select item 1214986	NC_000004.12:g.3463202G>A	DOK7	Single nucleotide variant	not provided	GLikely benign
Select item 262861	NM_173660.5(DOK7):c.-30G>T	DOK7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 193509	NM_173660.5(DOK7):c.-6C>G	DOK7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 835508	NM_173660.5(DOK7):c.54+25_55-38del	DOK7	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +3 more	GPathogenic/Likely pathogenic
Select item 1164459	NM_173660.5(DOK7):c.54+33dup	DOK7	Duplication (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 1104916	NM_173660.5(DOK7):c.54+33del	DOK7	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 701812	NM_173660.5(DOK7):c.54+32_54+33del	DOK7	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +2 more	GBenign
Select item 262881	NM_173660.5(DOK7):c.54+29G>T	DOK7	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 661865	NM_173660.5(DOK7):c.97G>T (p.Ala33Ser)	DOK7 (A33S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 262862	NM_173660.5(DOK7):c.100+36del	DOK7	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 679501	NM_173660.5(DOK7):c.100+66A>G	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679323	NM_173660.5(DOK7):c.100+161C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180988	NM_173660.5(DOK7):c.100+174C>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671280	NM_173660.5(DOK7):c.100+288G>C	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210675	NM_173660.5(DOK7):c.101-349G>C	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174410	NM_173660.5(DOK7):c.101-316del	DOK7	Deletion (intron variant)	not provided	GBenign
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)	not provided +3 more	GBenign
Select item 196597	NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)	DOK7 (S45L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 534118	NM_173660.5(DOK7):c.155G>A (p.Arg52Gln)	DOK7 (R52Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 285098	NM_173660.5(DOK7):c.161G>A (p.Arg54His)	DOK7 (R54H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 465683	NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)	DOK7 (E60K)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 262869	NM_173660.5(DOK7):c.189C>T (p.Cys63=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 951724	NM_173660.5(DOK7):c.230C>T (p.Thr77Met)	DOK7 (T77M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262870	NM_173660.5(DOK7):c.282C>T (p.His94=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	not specified +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)	not provided +5 more	GPathogenic
Select item 262873	NM_173660.5(DOK7):c.331+27G>A	DOK7	Single nucleotide variant (intron variant)	not specified +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 1245524	NM_173660.5(DOK7):c.332-221C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226021	NM_173660.5(DOK7):c.332-199G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271449	NM_173660.5(DOK7):c.332-191T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257066	NM_173660.5(DOK7):c.332-190G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295714	NM_173660.5(DOK7):c.332-189A>C	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249045	NM_173660.5(DOK7):c.332-173G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296221	NM_173660.5(DOK7):c.332-169C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293061	NM_173660.5(DOK7):c.332-121G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 506720	NM_173660.4(DOK7):c.332-121_332-18del104ins234	DOK7	Indel	not specified	GLikely benign
Select item 674463	NM_173660.5(DOK7):c.332-116_332-65del	DOK7	Deletion (intron variant)	not provided	GBenign
Select item 1230734	NM_173660.5(DOK7):c.332-118C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293064	NM_173660.5(DOK7):c.332-116G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231070	NM_173660.5(DOK7):c.332-113T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212549	NM_173660.5(DOK7):c.332-112G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266941	NM_173660.5(DOK7):c.332-92C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192146	NM_173660.5(DOK7):c.332-70_332-69insGCCCCGCCCACCCTCGATGCCCTCTCGCCCCACCCGCCCATGATGCCCTCTC	DOK7	Insertion (intron variant)	not provided	GLikely benign
Select item 681754	NM_173660.5(DOK7):c.332-69A>G	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508958	NM_173660.4(DOK7):c.332-69_332-18del52ins182	DOK7	Indel	not specified	GLikely benign
Select item 676825	NM_173660.5(DOK7):c.332-66C>T	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186939	NM_173660.5(DOK7):c.332-56G>T	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681756	NM_173660.5(DOK7):c.332-56G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189579	NM_173660.5(DOK7):c.332-50T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262876	NM_173660.5(DOK7):c.332-49C>T	DOK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 419894	NM_173660.5(DOK7):c.332-43_332-18del	DOK7	Deletion (intron variant)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 1194366	NM_173660.5(DOK7):c.332-39T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676823	NM_173660.5(DOK7):c.332-38G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672449	NM_173660.5(DOK7):c.332-24C>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262875	NM_173660.5(DOK7):c.332-18T>C	DOK7	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 128912	NM_173660.5(DOK7):c.332-4G>A	DOK7	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1703994	NM_173660.5(DOK7):c.414C>T (p.Leu138=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +4 more	GLikely pathogenic
Select item 1305070	NM_173660.5(DOK7):c.475C>T (p.Arg159Cys)	DOK7 (R159C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 429791	NM_173660.5(DOK7):c.513C>T (p.Gly171=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +4 more	GPathogenic/Likely pathogenic
Select item 679325	NM_173660.5(DOK7):c.532+54T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679641	NM_173660.5(DOK7):c.532+61T>C	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681771	NM_173660.5(DOK7):c.532+122C>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251840	NM_173660.5(DOK7):c.532+175A>G	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197727	NM_173660.5(DOK7):c.533-231C>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679326	NM_173660.5(DOK7):c.533-167A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679012	NM_173660.5(DOK7):c.533-155G>A	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679327	NM_173660.5(DOK7):c.533-115A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237039	NM_173660.5(DOK7):c.533-70T>C	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262879	NM_173660.5(DOK7):c.533-31A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262878	NM_173660.5(DOK7):c.533-29A>G	DOK7, LOC126806951	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1278	NM_173660.5(DOK7):c.539G>C (p.Gly180Ala)	DOK7, LOC126806951 (G180A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1035828	NM_173660.5(DOK7):c.557C>T (p.Ser186Leu)	DOK7, LOC126806951 (S186L +1 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 704024	NM_173660.5(DOK7):c.567G>A (p.Gly189=)	DOK7, LOC126806951 (G186R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 418166	NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)	DOK7, LOC126806951 (S193G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 10 +3 more	GUncertain significance
Select item 128913	NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)	DOK7 (D197N +2 more)	Single nucleotide variant (missense variant +1 more)	Fetal akinesia deformation sequence 1 +3 more	GBenign
Select item 210856	NM_173660.5(DOK7):c.596del (p.Ile199fs)	DOK7 (I199fs +2 more)	Deletion (frameshift variant +1 more)	Fetal akinesia deformation sequence 3 +3 more	GPathogenic/Likely pathogenic
Select item 706049	NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)	DOK7 (P214L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1024293	NM_173660.5(DOK7):c.652+5G>A	DOK7	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 681772	NM_173660.5(DOK7):c.652+65G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668119	NM_173660.5(DOK7):c.652+253G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289240	NM_173660.5(DOK7):c.652+259C>G	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210902	NM_173660.5(DOK7):c.653-271G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278575	NM_173660.5(DOK7):c.653-265G>A	DOK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262885	NM_173660.5(DOK7):c.653-19A>C	DOK7	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 682178	NM_173660.5(DOK7):c.653-4A>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 978492	NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)	DOK7 (P222L +1 more)	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 10 +2 more	GLikely benign
Select item 573469	NM_173660.5(DOK7):c.674C>T (p.Ser225Leu)	DOK7 (S225L +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GUncertain significance

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