TNK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 1679598	Single allele	CEP19, DLG1 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 152456	GRCh38/hg38 3q29(chr3:195838288-195918665)x3	LINC01983, LOC129938246 +12 more	Copy number gain	See cases	GBenign
Select item 146252	GRCh38/hg38 3q29(chr3:195838288-196013545)x1	LINC01983, LOC129938246 +17 more	Copy number loss	See cases	GLikely benign
Select item 259879	NM_001382273.1(TNK2):c.3164G>A (p.Arg1055His)	TNK2 (R1038H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 2376155	NM_001382273.1(TNK2):c.3163C>T (p.Arg1055Cys)	TNK2 (R1032C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654498	NM_001382273.1(TNK2):c.3120C>T (p.Ala1040=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1976651	NM_001382273.1(TNK2):c.3099C>A (p.Phe1033Leu)	TNK2 (F1018L +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2817201	NM_001382273.1(TNK2):c.3066C>T (p.Pro1022=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040270	NM_001382273.1(TNK2):c.3060G>T (p.Leu1020=)	TNK2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2654499	NM_001382273.1(TNK2):c.3045C>T (p.Leu1015=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094000	NM_001382273.1(TNK2):c.3034-12C>G	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529884	NM_001382273.1(TNK2):c.3034-17G>A	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181806	NM_001382273.1(TNK2):c.3034-18C>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1805785	NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)	TNK2 (Q1008* +6 more)	Single nucleotide variant (nonsense +2 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 224858	NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val)	TNK2 (A977V +6 more)	Single nucleotide variant (missense variant +2 more)	Parkinson disease	GUncertain significance
Select item 373143	NM_001382273.1(TNK2):c.2947A>T (p.Met983Leu)	TNK2 (M966L +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2913629	NM_001382273.1(TNK2):c.2937+17G>C	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915611	NM_001382273.1(TNK2):c.2937+11A>T	TNK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588853	NM_001382273.1(TNK2):c.2928G>C (p.Lys976Asn)	TNK2 (K1000N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2654500	NM_001382273.1(TNK2):c.2919A>G (p.Pro973=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2404234	NM_001382273.1(TNK2):c.2915G>A (p.Arg972Gln)	TNK2 (R996Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3011661	NM_001382273.1(TNK2):c.2914C>T (p.Arg972Trp)	TNK2 (R957W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2458058	NM_001382273.1(TNK2):c.2909C>T (p.Ala970Val)	TNK2 (A1002V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2155706	NM_001382273.1(TNK2):c.2870G>A (p.Arg957Gln)	TNK2 (R942Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038684	NM_001382273.1(TNK2):c.2869C>T (p.Arg957Trp)	TNK2 (R942W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1342408	NM_001382273.1(TNK2):c.2864C>G (p.Thr955Ser)	TNK2 (T940S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3002871	NM_001382273.1(TNK2):c.2856G>A (p.Pro952=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3327587	NM_001382273.1(TNK2):c.2855C>T (p.Pro952Leu)	TNK2 (P952L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2712475	NM_001382273.1(TNK2):c.2853C>T (p.Pro951=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2158511	NM_001382273.1(TNK2):c.2843G>A (p.Arg948Gln)	TNK2 (R933Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2368187	NM_001382273.1(TNK2):c.2842C>T (p.Arg948Trp)	TNK2 (R948W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351274	NM_001382273.1(TNK2):c.2824A>G (p.Asn942Asp)	TNK2 (N966D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3327590	NM_001382273.1(TNK2):c.2801C>T (p.Pro934Leu)	TNK2 (P919L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049404	NM_001382273.1(TNK2):c.2778G>A (p.Pro926=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	TNK2-related disorder	GLikely benign
Select item 2515788	NM_001382273.1(TNK2):c.2774G>A (p.Arg925Gln)	TNK2 (R925Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180424	NM_001382273.1(TNK2):c.2762C>T (p.Thr921Met)	TNK2 (T921M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180423	NM_001382273.1(TNK2):c.2758C>T (p.Pro920Ser)	TNK2 (P929S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274785	NM_001382273.1(TNK2):c.2752G>A (p.Ala918Thr)	TNK2 (A918T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2042808	NM_001382273.1(TNK2):c.2735C>T (p.Pro912Leu)	TNK2 (P897L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1903289	NM_001382273.1(TNK2):c.2732C>G (p.Pro911Arg)	TNK2 (P911R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2463899	NM_001382273.1(TNK2):c.2729C>T (p.Pro910Leu)	TNK2 (P910L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347506	NM_001382273.1(TNK2):c.2713G>C (p.Val905Leu)	TNK2 (V890L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 259878	NM_001382273.1(TNK2):c.2713G>A (p.Val905Met)	TNK2 (V890M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2200399	NM_001382273.1(TNK2):c.2706C>T (p.Pro902=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2536038	NM_001382273.1(TNK2):c.2705C>G (p.Pro902Arg)	TNK2 (P887R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1599577	NM_001382273.1(TNK2):c.2705C>A (p.Pro902His)	TNK2 (P887H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2862700	NM_001382273.1(TNK2):c.2688C>T (p.Ser896=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 224859	NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)	TNK2 (R877H +5 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease +2 more	GConflicting classifications of pathogenicity
Select item 2460706	NM_001382273.1(TNK2):c.2674C>T (p.Arg892Cys)	TNK2 (R877C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1964070	NM_001382273.1(TNK2):c.2660A>T (p.Tyr887Phe)	TNK2 (Y896F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519585	NM_001382273.1(TNK2):c.2657G>A (p.Arg886His)	TNK2 (R871H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2210715	NM_001382273.1(TNK2):c.2656C>T (p.Arg886Cys)	TNK2 (R895C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180421	NM_001382273.1(TNK2):c.2651T>G (p.Leu884Arg)	TNK2 (L884R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2780855	NM_001382273.1(TNK2):c.2639G>A (p.Arg880Gln)	TNK2 (R865Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2791240	NM_001382273.1(TNK2):c.2636A>G (p.Glu879Gly)	TNK2 (E896G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3327579	NM_001382273.1(TNK2):c.2635G>C (p.Glu879Gln)	TNK2 (E911Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482538	NM_001382273.1(TNK2):c.2635G>A (p.Glu879Lys)	TNK2 (E864K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180420	NM_001382273.1(TNK2):c.2617C>T (p.His873Tyr)	TNK2 (H882Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180419	NM_001382273.1(TNK2):c.2601G>T (p.Lys867Asn)	TNK2 (K852N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2730049	NM_001382273.1(TNK2):c.2590C>G (p.Arg864Gly)	TNK2 (R888G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718513	NM_001382273.1(TNK2):c.2590C>T (p.Arg864Trp)	TNK2 (R864W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2215625	NM_001382273.1(TNK2):c.2587G>A (p.Val863Ile)	TNK2 (V863I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2047881	NM_001382273.1(TNK2):c.2580G>A (p.Leu860=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361740	NM_001382273.1(TNK2):c.2561G>A (p.Arg854Gln)	TNK2 (R839Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3327584	NM_001382273.1(TNK2):c.2560C>T (p.Arg854Trp)	TNK2 (R854W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2068068	NM_001382273.1(TNK2):c.2555G>T (p.Gly852Val)	TNK2 (G852V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3327588	NM_001382273.1(TNK2):c.2554G>A (p.Gly852Ser)	TNK2 (G837S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1503221	NM_001382273.1(TNK2):c.2531C>A (p.Thr844Asn)	TNK2 (T861N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3327591	NM_001382273.1(TNK2):c.2510C>T (p.Ala837Val)	TNK2 (A837V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2877980	NM_001382273.1(TNK2):c.2462G>A (p.Arg821Gln)	TNK2 (R853Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757504	NM_001382273.1(TNK2):c.2461C>T (p.Arg821Trp)	TNK2 (R806W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2412462	NM_001382273.1(TNK2):c.2455C>T (p.Pro819Ser)	TNK2 (P828S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2056064	NM_001382273.1(TNK2):c.2450C>T (p.Pro817Leu)	TNK2 (P834L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2316103	NM_001382273.1(TNK2):c.2416A>T (p.Thr806Ser)	TNK2 (T791S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2917342	NM_001382273.1(TNK2):c.2412G>A (p.Ser804=)	TNK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1969932	NM_001382273.1(TNK2):c.2408G>A (p.Gly803Asp)	TNK2 (G820D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2266308	NM_001382273.1(TNK2):c.2391G>T (p.Glu797Asp)	TNK2 (E782D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1370596	NM_001382273.1(TNK2):c.2387G>A (p.Arg796Gln)	TNK2 (R805Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2513159	NM_001382273.1(TNK2):c.2386C>T (p.Arg796Trp)	TNK2 (R796W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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