ClinVar for Gene (Select 285489) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352672	NM_001301071.2(DOK7):c.1609G>A (p.Val537Met)	DOK7 (V393M +1 more)	Single nucleotide variant (missense variant)	DOK7-related disorder	GUncertain significance
Select item 3349617	NM_173660.5(DOK7):c.257C>A (p.Ala86Asp)	DOK7 (A86D)	Single nucleotide variant (missense variant +1 more)	DOK7-related disorder	GUncertain significance
Select item 3342296	NM_173660.5(DOK7):c.772+2T>G	DOK7, LOC129992118	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 10	GUncertain significance
Select item 3337772	NM_173660.5(DOK7):c.464_533-4296del	DOK7	Deletion (splice donor variant +1 more)	not provided	GPathogenic
Select item 3336041	NM_173660.5(DOK7):c.-5AGA[1] (p.Met1del)	DOK7 (M1del)	Microsatellite (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 3273476	NM_173660.5(DOK7):c.768T>A (p.Ser256Arg)	DOK7, LOC129992118 (W253R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273475	NM_173660.5(DOK7):c.320C>T (p.Ala107Val)	DOK7 (A107V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273474	NM_173660.5(DOK7):c.1368G>A (p.Met456Ile)	DOK7 (M146I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273473	NM_173660.5(DOK7):c.101A>T (p.Asp34Val)	DOK7 (D34V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273472	NM_173660.5(DOK7):c.1077C>G (p.Ser359Arg)	DOK7 (S49R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273471	NM_173660.5(DOK7):c.744C>T (p.Leu248=)	DOK7, LOC129992118 (L245F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3273469	NM_173660.5(DOK7):c.185T>C (p.Ile62Thr)	DOK7 (I62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3273468	NM_173660.5(DOK7):c.1180G>C (p.Glu394Gln)	DOK7 (E250Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3257247	NM_173660.5(DOK7):c.954C>A (p.Pro318=)	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3246727	NC_000004.11:g.(?_1795662)_(3495228_?)del	ADD1, DOK7 +21 more	Deletion	not provided	GPathogenic
Select item 3246703	NC_000004.11:g.(?_1795662)_(3495228_?)dup	ADD1, DOK7 +21 more	Duplication	not provided	GUncertain significance
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 3241354	NM_173660.5(DOK7):c.773-2A>G	DOK7	Single nucleotide variant (splice acceptor variant)	Fetal akinesia deformation sequence 3	GPathogenic
Select item 3241353	NM_173660.5(DOK7):c.1424G>A (p.Trp475Ter)	DOK7 (W165* +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241352	NM_173660.5(DOK7):c.55-25_55-1del	DOK7	Deletion (splice acceptor variant)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241351	NM_173660.5(DOK7):c.685G>T (p.Glu229Ter)	DOK7 (E229* +2 more)	Single nucleotide variant (missense variant +2 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241350	NM_173660.5(DOK7):c.1264dup (p.Ser422fs)	DOK7 (S112fs +2 more)	Duplication (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241349	NM_173660.5(DOK7):c.765_772+11del	DOK7, LOC129992118	Deletion (splice donor variant)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241348	NM_173660.5(DOK7):c.1256dup (p.Ser419fs)	DOK7 (S109fs +2 more)	Duplication (3 prime UTR variant +1 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241347	NM_173660.5(DOK7):c.653-3C>G	DOK7	Single nucleotide variant (intron variant)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241346	NM_173660.5(DOK7):c.665del (p.Pro222fs)	DOK7 (P222fs +2 more)	Deletion (frameshift variant +1 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241345	NM_173660.5(DOK7):c.886C>T (p.Gln296Ter)	DOK7 (Q152* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3241344	NM_173660.5(DOK7):c.897_912del (p.Ala302fs)	DOK7 (A158fs +1 more)	Deletion (3 prime UTR variant +2 more)	Fetal akinesia deformation sequence 3	GLikely pathogenic
Select item 3085204	NM_173660.5(DOK7):c.86C>A (p.Pro29Gln)	DOK7 (P29Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085203	NM_173660.5(DOK7):c.1394C>T (p.Thr465Ile)	DOK7 (T155I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085202	NM_173660.5(DOK7):c.1367T>C (p.Met456Thr)	DOK7 (M456T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3058685	NM_001301071.2(DOK7):c.1587G>A (p.Pro529=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely benign
Select item 3057972	NM_001301071.2(DOK7):c.1541-5C>T	DOK7	Single nucleotide variant (intron variant)	DOK7-related disorder	GLikely benign
Select item 3056558	NM_001301071.2(DOK7):c.1710C>T (p.Leu570=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely benign
Select item 3049477	NM_173660.5(DOK7):c.*1G>A	DOK7	Single nucleotide variant (3 prime UTR variant +1 more)	DOK7-related disorder	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 disorder	GLikely benign
Select item 3038924	NM_001301071.2(DOK7):c.1596G>A (p.Glu532=)	DOK7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037664	NM_001301071.2(DOK7):c.1541-5dup	DOK7	Duplication (intron variant)	DOK7-related disorder	GBenign
Select item 3037313	NM_001301071.2(DOK7):c.1746G>A (p.Ala582=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely benign
Select item 3034441	NM_001301071.2(DOK7):c.1554C>G (p.Pro518=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely 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 disorder	GLikely benign
Select item 3032789	NM_001301071.2(DOK7):c.1617C>T (p.Ile539=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely benign
Select item 3032035	NM_001301071.2(DOK7):c.1794G>A (p.Ser598=)	DOK7	Single nucleotide variant (synonymous variant)	DOK7-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MAEA, MAN2B2 +117 more	Copy number loss	not provided	GPathogenic
Select item 2954022	NM_173660.5(DOK7):c.958A>T (p.Lys320Ter)	DOK7 (K10* +2 more)	Single nucleotide variant (3 prime UTR variant +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2953053	NM_173660.5(DOK7):c.297G>T (p.Ala99=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2952641	NM_173660.5(DOK7):c.298dup (p.Trp100fs)	DOK7 (W100fs)	Duplication (frameshift variant +1 more)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2952064	NM_173660.5(DOK7):c.332-15C>T	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2951768	NM_173660.5(DOK7):c.54+8_54+17dup	DOK7	Duplication (splice donor variant)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2951296	NM_173660.5(DOK7):c.653-20G>C	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2950773	NM_173660.5(DOK7):c.331+15C>G	DOK7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2950453	NM_173660.5(DOK7):c.390C>G (p.Thr130=)	DOK7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 2947406	NM_173660.5(DOK7):c.54+30_54+31insA	DOK7	Insertion (intron variant)	Congenital myasthenic syndrome 10 +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)	Congenital myasthenic syndrome 10 +1 more	GPathogenic
Select item 2947046	NM_173660.5(DOK7):c.48C>G (p.Gly16=)	DOK7	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 10 +1 more	GLikely benign

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