ClinVar for Gene (Select 50488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	SPEM1, SPEM2 +209 more	Duplication	not provided	GUncertain significance
Select item 3243048	NC_000017.10:g.(?_4801070)_(4804202_?)del	C17orf107, CHRNE +1 more	Deletion	Congenital myasthenic syndrome 4A	GLikely pathogenic
Select item 3126650	NM_153827.5(MINK1):c.868C>T (p.Arg290Trp)	MINK1 (R290W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126649	NM_153827.5(MINK1):c.3934C>T (p.Arg1312Cys)	MINK1 (R1312C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126648	NM_153827.5(MINK1):c.3272G>T (p.Arg1091Leu)	MINK1 (R1091L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126646	NM_153827.5(MINK1):c.3115G>A (p.Gly1039Arg)	MINK1 (G947R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126645	NM_153827.5(MINK1):c.2872G>A (p.Gly958Arg)	MINK1 (G866R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126644	NM_153827.5(MINK1):c.2789C>T (p.Ser930Leu)	MINK1 (S910L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126643	NM_153827.5(MINK1):c.2633A>G (p.Gln878Arg)	MINK1 (Q786R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126642	NM_153827.5(MINK1):c.2392C>T (p.Arg798Trp)	MINK1 (R706W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126641	NM_153827.5(MINK1):c.2219G>A (p.Ser740Asn)	MINK1 (S703N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126640	NM_153827.5(MINK1):c.20C>T (p.Ala7Val)	LOC130060036, MINK1 (A7V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126639	NM_153827.5(MINK1):c.2093G>A (p.Arg698His)	MINK1 (R678H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126638	NM_153827.5(MINK1):c.2042C>T (p.Thr681Ile)	MINK1 (T681I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126637	NM_153827.5(MINK1):c.1894G>A (p.Ala632Thr)	MINK1 (A612T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126636	NM_153827.5(MINK1):c.1873G>A (p.Ala625Thr)	MINK1 (A605T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126635	NM_153827.5(MINK1):c.1575G>C (p.Glu525Asp)	MINK1 (E470D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126634	NM_153827.5(MINK1):c.1487T>C (p.Leu496Pro)	MINK1 (L441P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2681401	NM_153827.5(MINK1):c.3067C>T (p.Leu1023Phe)	MINK1 (L1003F +4 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2647276	NM_153827.5(MINK1):c.3852C>T (p.Leu1284=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647275	NM_153827.5(MINK1):c.3377G>A (p.Arg1126Gln)	MINK1 (R1034Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647274	NM_153827.5(MINK1):c.2025C>T (p.Ile675=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647273	NM_153827.5(MINK1):c.1950C>G (p.Pro650=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647272	NM_153827.5(MINK1):c.6C>T (p.Gly2=)	LOC130060036, MINK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2626967	NM_153827.5(MINK1):c.3749A>C (p.Gln1250Pro)	MINK1 (Q1158P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599403	NM_153827.5(MINK1):c.2381C>T (p.Ser794Leu)	MINK1 (S702L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589688	NM_153827.5(MINK1):c.2081G>A (p.Arg694His)	MINK1 (R639H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588475	NM_153827.5(MINK1):c.3664G>A (p.Asp1222Asn)	MINK1 (D1185N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2564451	NM_153827.5(MINK1):c.2265C>G (p.His755Gln)	MINK1 (H735Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555067	NM_153827.5(MINK1):c.1148C>G (p.Pro383Arg)	MINK1 (P328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550233	NM_153827.5(MINK1):c.1960C>A (p.Pro654Thr)	MINK1 (P599T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549084	NM_153827.5(MINK1):c.3008G>A (p.Arg1003Gln)	MINK1 (R911Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544695	NM_153827.5(MINK1):c.3664G>C (p.Asp1222His)	MINK1 (D1130H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530071	NM_153827.5(MINK1):c.2156C>T (p.Pro719Leu)	MINK1 (P719L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522467	NM_153827.5(MINK1):c.1216C>T (p.Arg406Cys)	MINK1 (R351C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519116	NM_153827.5(MINK1):c.278G>C (p.Ser93Thr)	MINK1 (S93T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515974	NM_153827.5(MINK1):c.1975C>T (p.Arg659Cys)	MINK1 (R639C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510617	NM_153827.5(MINK1):c.3169C>T (p.Arg1057Trp)	MINK1 (R1028W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510566	NM_153827.5(MINK1):c.1987G>A (p.Glu663Lys)	MINK1 (E608K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510251	NM_153827.5(MINK1):c.3527G>A (p.Arg1176Gln)	MINK1 (R1084Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482797	NM_153827.5(MINK1):c.973G>A (p.Gly325Ser)	MINK1 (G270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480850	NM_153827.5(MINK1):c.2443C>T (p.Arg815Trp)	MINK1 (R778W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476388	NM_153827.5(MINK1):c.2650G>A (p.Gly884Ser)	MINK1 (G855S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465785	NM_153827.5(MINK1):c.1728G>C (p.Glu576Asp)	MINK1 (E576D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408262	NM_153827.5(MINK1):c.2359G>A (p.Ala787Thr)	MINK1 (A750T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395542	NM_153827.5(MINK1):c.2297G>A (p.Arg766Gln)	MINK1 (R746Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379662	NM_153827.5(MINK1):c.2248G>A (p.Val750Ile)	MINK1 (V713I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370802	NM_153827.5(MINK1):c.2508C>G (p.Asp836Glu)	MINK1 (D807E +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350491	NM_153827.5(MINK1):c.1963C>A (p.Pro655Thr)	MINK1 (P600T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349598	NM_153827.5(MINK1):c.3518A>C (p.Glu1173Ala)	MINK1 (E1153A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341313	NM_153827.5(MINK1):c.3785G>C (p.Cys1262Ser)	MINK1 (C1225S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336915	NM_153827.5(MINK1):c.697C>A (p.Leu233Met)	MINK1 (L178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332862	NM_153827.5(MINK1):c.2225C>G (p.Pro742Arg)	MINK1 (P742R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328033	NM_153827.5(MINK1):c.2462T>C (p.Met821Thr)	MINK1 (M801T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322160	NM_153827.5(MINK1):c.513T>G (p.Asp171Glu)	MINK1 (D171E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316637	NM_153827.5(MINK1):c.2303G>T (p.Arg768Leu)	MINK1 (R748L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308288	NM_153827.5(MINK1):c.3976C>G (p.Arg1326Gly)	MINK1 (R1297G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307727	NM_153827.5(MINK1):c.3842C>T (p.Thr1281Met)	MINK1 (T1281M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306828	NM_153827.5(MINK1):c.2742G>T (p.Gln914His)	MINK1 (Q877H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294317	NM_153827.5(MINK1):c.2006C>G (p.Pro669Arg)	MINK1 (P669R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271299	NM_153827.5(MINK1):c.3977G>A (p.Arg1326His)	MINK1 (R1289H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270328	NM_153827.5(MINK1):c.3223A>G (p.Ile1075Val)	MINK1 (I1046V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259296	NM_153827.5(MINK1):c.1115A>G (p.Gln372Arg)	MINK1 (Q317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256582	NM_153827.5(MINK1):c.2832G>C (p.Lys944Asn)	MINK1 (K915N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250819	NM_153827.5(MINK1):c.1130A>T (p.Gln377Leu)	MINK1 (Q377L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233234	NM_153827.5(MINK1):c.1496G>C (p.Gly499Ala)	MINK1 (G444A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210541	NM_153827.5(MINK1):c.2635C>A (p.Pro879Thr)	MINK1 (P787T +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809320	GRCh37/hg19 17p13.2(chr17:4658216-5266343)x3	C17orf107, CAMTA2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1684526	NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg)	MINK1 (L1032R +4 more)	Single nucleotide variant (missense variant)	Autism +4 more	GUncertain significance
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 892125	NM_153827.5(MINK1):c.*701C>T	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 890890	NM_153827.5(MINK1):c.*594G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	CLUH, CRK +115 more	Copy number loss	See cases	GPathogenic
Select item 777100	NM_153827.5(MINK1):c.3531C>T (p.Leu1177=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739064	NM_153827.5(MINK1):c.3372C>T (p.Tyr1124=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735186	NM_153827.5(MINK1):c.2113A>C (p.Ile705Leu)	MINK1 (I685L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713208	NM_153827.5(MINK1):c.2733C>T (p.Asp911=)	MINK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564394	GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3	INCA1, SLC25A11 +18 more	Copy number gain	not provided	GUncertain significance
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441788	GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1	C17orf107, CHRNE +14 more	Copy number loss	See cases	GUncertain significance
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394743	GRCh37/hg19 17p13.2(chr17:4762588-4844009)x3	C17orf107, CHRNE +4 more	Copy number gain	See cases	GUncertain significance
Select item 323959	NM_000080.4(CHRNE):c.*743T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323958	NM_000080.4(CHRNE):c.*745G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GBenign
Select item 323957	NM_000080.4(CHRNE):c.744_745insA	MINK1, CHRNE	Insertion (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323956	NM_153827.5(MINK1):c.*693TCCC[1]	CHRNE, MINK1	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323955	NM_153827.5(MINK1):c.*671TG[3]	MINK1, CHRNE	Microsatellite (3 prime UTR variant)	Congenital Myasthenic Syndrome, Dominant/Recessive	GUncertain significance
Select item 323954	NM_000080.4(CHRNE):c.*805T>G	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance
Select item 323953	NM_000080.4(CHRNE):c.*806G>A	CHRNE, MINK1	Single nucleotide variant (3 prime UTR variant)	Congenital myasthenic syndrome	GUncertain significance

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