ClinVar for MedGen (Select 376880) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246666	NC_000004.11:g.(?_3488757)_(3495159_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 3246665	NC_000004.11:g.(?_3478200)_(3482970_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3246664	NC_000004.11:g.(?_3478049)_(3478289_?)del	DOK7	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 3246663	NC_000004.11:g.(?_2822345)_(3495228_?)del	ADD1, DOK7 +8 more	Deletion	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2954022	NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)	DOK7 (K10* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2953803	NM_173660.5(DOK7):c.54+13C>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953726	NM_173660.5(DOK7):c.66_69dup (p.Leu24fs)	DOK7 (L24fs)	Duplication (frameshift variant)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2953622	NM_173660.5(DOK7):c.652+20C>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953509	NM_173660.5(DOK7):c.618C>A (p.Thr206=)	DOK7 (Q203K)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953242	NM_173660.5(DOK7):c.999G>A (p.Gln333=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953073	NM_173660.5(DOK7):c.1251C>T (p.Asp417=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2953053	NM_173660.5(DOK7):c.297G>T (p.Ala99=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952857	NM_173660.5(DOK7):c.1359C>T (p.Gly453=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952716	NM_173660.5(DOK7):c.924G>C (p.Gly308=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2952641	NM_173660.5(DOK7):c.298dup (p.Trp100fs)	DOK7 (W100fs)	Duplication (frameshift variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2952064	NM_173660.5(DOK7):c.332-15C>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951791	NM_173660.5(DOK7):c.789G>A (p.Leu263=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951768	NM_173660.5(DOK7):c.54+8_54+17dup	DOK7	Duplication (splice donor variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951737	NM_173660.5(DOK7):c.714C>T (p.Thr238=)	DOK7, LOC129992118 (P235S)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951477	NM_173660.5(DOK7):c.1239G>A (p.Leu413=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951296	NM_173660.5(DOK7):c.653-20G>C	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2951184	NM_173660.5(DOK7):c.1514G>A (p.Ter505=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950988	NM_173660.5(DOK7):c.852G>A (p.Trp284Ter)	DOK7 (W140* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2950907	NM_173660.5(DOK7):c.1275C>T (p.Ser425=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950773	NM_173660.5(DOK7):c.331+15C>G	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950608	NM_173660.5(DOK7):c.1467T>C (p.Phe489=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950453	NM_173660.5(DOK7):c.390C>G (p.Thr130=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950243	NM_173660.5(DOK7):c.840G>C (p.Arg280=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2950060	NM_173660.5(DOK7):c.714C>A (p.Thr238=)	DOK7, LOC129992118 (P235T)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949671	NM_173660.5(DOK7):c.1038C>A (p.Ser346=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2949283	NM_173660.5(DOK7):c.657A>G (p.Pro219=)	DOK7 (K216E)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949117	NM_173660.5(DOK7):c.54+25G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949013	NM_173660.5(DOK7):c.54+23_54+24insCG	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2949011	NM_173660.5(DOK7):c.496G>T (p.Gly166Ter)	DOK7 (G166*)	Single nucleotide variant (nonsense +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2948939	NM_173660.5(DOK7):c.468C>T (p.Asp156=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948507	NM_173660.5(DOK7):c.668dup (p.Pro224fs)	DOK7 (P224fs +2 more)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2948468	NM_173660.5(DOK7):c.100+11C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948387	NM_173660.5(DOK7):c.331+14G>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948231	NM_173660.5(DOK7):c.1153_1166delinsAGGGGCCCCCGA (p.Leu385fs)	DOK7 (L385fs +2 more)	Indel (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2948222	NM_173660.5(DOK7):c.54+26_54+27insA	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948093	NM_173660.5(DOK7):c.600C>A (p.Val200=)	DOK7 (P197T)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948064	NM_173660.5(DOK7):c.652+8T>C	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2948060	NM_173660.5(DOK7):c.186C>A (p.Ile62=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2947796	NM_173660.5(DOK7):c.773-11C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2947717	NM_173660.5(DOK7):c.1203G>C (p.Leu401=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2947521	NM_173660.5(DOK7):c.798A>G (p.Ser266=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947406	NM_173660.5(DOK7):c.54+30_54+31insA	DOK7	Insertion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2947094	NM_173660.5(DOK7):c.674C>A (p.Ser225Ter)	DOK7 (S225* +1 more)	Single nucleotide variant (synonymous variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 2947046	NM_173660.5(DOK7):c.48C>G (p.Gly16=)	DOK7	Single nucleotide variant (synonymous variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946989	NM_173660.5(DOK7):c.993C>G (p.Gly331=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946964	NM_173660.5(DOK7):c.696C>T (p.Ala232=)	DOK7, LOC129992118 (P229S)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946869	NM_173660.5(DOK7):c.54+16G>A	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946773	NM_173660.5(DOK7):c.772+14del	DOK7, LOC129992118	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946626	NM_173660.5(DOK7):c.332-12G>C	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946442	NM_173660.5(DOK7):c.141T>C (p.Arg47=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946374	NM_173660.5(DOK7):c.54+34dup	DOK7	Duplication (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946269	NM_173660.5(DOK7):c.54+29_54+30insA	DOK7	Insertion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946268	NM_173660.5(DOK7):c.324C>T (p.Leu108=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946082	NM_173660.5(DOK7):c.773-19G>T	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946079	NM_173660.5(DOK7):c.177A>G (p.Leu59=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2946020	NM_173660.5(DOK7):c.54+31_54+32insCGCG	DOK7	Insertion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945968	NM_173660.5(DOK7):c.54+22_54+23insA	DOK7	Insertion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945703	NM_173660.5(DOK7):c.653-20del	DOK7	Deletion (intron variant)	Fetal akinesia deformation sequence 1 +1 more	GLikely benign
Select item 2945603	NM_173660.5(DOK7):c.101-8C>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2945498	NM_173660.5(DOK7):c.653-11_653-8del	DOK7	Microsatellite (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2945276	NM_173660.5(DOK7):c.533-4G>A	DOK7, LOC126806951	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2945181	NM_173660.5(DOK7):c.773-15C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2945012	NM_173660.5(DOK7):c.1260C>A (p.Pro420=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944987	NM_173660.5(DOK7):c.1440C>G (p.Pro480=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944932	NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)	DOK7 (L157F)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GUncertain significance
Select item 2944866	NM_173660.5(DOK7):c.533-19C>T	DOK7, LOC126806951	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944852	NM_173660.5(DOK7):c.399C>G (p.Leu133=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944712	NM_173660.5(DOK7):c.1396C>T (p.Leu466=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944602	NM_173660.5(DOK7):c.663C>T (p.Pro221=)	DOK7 (P218S)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2944538	NM_173660.5(DOK7):c.1271_1280dup (p.Asn428fs)	DOK7 (N284fs +2 more)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2944162	NM_173660.5(DOK7):c.1128A>C (p.Pro376=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943734	NM_173660.5(DOK7):c.1125G>C (p.Leu375=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943447	NM_173660.5(DOK7):c.331+15_331+16del	DOK7	Deletion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943348	NM_173660.5(DOK7):c.1347G>T (p.Thr449=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943301	NM_173660.5(DOK7):c.332-9_332-8insTGCCCC	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943211	NM_173660.5(DOK7):c.1372dup (p.Ala458fs)	DOK7 (A314fs +2 more)	Duplication (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2943136	NM_173660.5(DOK7):c.332-7C>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2943071	NM_173660.5(DOK7):c.1194C>T (p.Pro398=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942628	NM_173660.5(DOK7):c.100+14G>C	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942625	NM_173660.5(DOK7):c.100+21_100+36del	DOK7	Deletion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942375	NM_173660.5(DOK7):c.702A>G (p.Glu234=)	DOK7, LOC129992118 (S231G)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942356	NM_173660.5(DOK7):c.294T>C (p.Cys98=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942229	NM_173660.5(DOK7):c.101-20G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2942172	NM_173660.5(DOK7):c.1176A>T (p.Thr392=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2941852	NM_173660.5(DOK7):c.60G>A (p.Lys20=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2941376	NM_173660.5(DOK7):c.615C>A (p.Pro205=)	DOK7 (H202N)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2940599	NM_173660.5(DOK7):c.1242T>G (p.Ala414=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2940282	NM_173660.5(DOK7):c.54+25_54+26insA	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2940182	NM_173660.5(DOK7):c.861A>G (p.Gln287=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939867	NM_173660.5(DOK7):c.906A>G (p.Ala302=)	DOK7	Single nucleotide variant (3 prime UTR variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939788	NM_173660.5(DOK7):c.54+11G>A	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939736	NM_173660.5(DOK7):c.54+27_54+28insT	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939697	NM_173660.5(DOK7):c.28C>T (p.Gln10Ter)	DOK7 (Q10*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2939661	NM_173660.5(DOK7):c.390C>T (p.Thr130=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2939497	NM_173660.5(DOK7):c.252C>A (p.Ser84=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign

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