TNIP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 155180	GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	ADD1, ADRA2C +279 more	Copy number loss	See cases	GPathogenic
Select item 154884	GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	ADD1, ADRA2C +426 more	Copy number loss	See cases	GPathogenic
Select item 150615	GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	LOC129992083, LOC129992084 +283 more	Copy number loss	See cases	GPathogenic
Select item 150606	GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	LOC129991961, LOC129991962 +283 more	Copy number gain	See cases	GPathogenic
Select item 150122	GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	ADD1, ATP5ME +250 more	Copy number loss	See cases	GPathogenic
Select item 149173	GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	ATP5ME, BLOC1S4 +504 more	Copy number loss	See cases	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	ABLIM2, ACOX3 +1209 more	Copy number gain	See cases	GPathogenic
Select item 150735	GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	TRMT44, USP17L10 +633 more	Copy number loss	See cases	GPathogenic
Select item 146749	GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	ABLIM2, ACOX3 +504 more	Copy number loss	See cases	GPathogenic
Select item 145401	GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	LOC129992044, LOC129992045 +277 more	Copy number loss	See cases	GPathogenic
Select item 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 more	Copy number gain	See cases	GPathogenic
Select item 57275	GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	ADD1, ADRA2C +277 more	Copy number gain	See cases	GPathogenic
Select item 57239	GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	LOC129992123, LOC129992124 +461 more	Copy number gain	See cases	GPathogenic
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 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	ABLIM2, ACOX3 +691 more	Copy number loss	See cases	GPathogenic
Select item 155619	GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	LOC129992180, LOC129992181 +597 more	Copy number loss	See cases	GPathogenic
Select item 155480	GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	LOC129991976, LOC129991977 +346 more	Copy number loss	See cases	GPathogenic
Select item 155310	GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	LOC129992081, LOC129992082 +479 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	ABLIM2, ACOX3 +702 more	Copy number gain	See cases	GPathogenic
Select item 149142	GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	USP17L22, USP17L24 +569 more	Copy number loss	See cases	GPathogenic
Select item 147922	GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	ABLIM2, ACOX3 +536 more	Copy number loss	See cases	GPathogenic
Select item 147791	GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	LOC129992015, LOC129992016 +274 more	Copy number loss	See cases	GPathogenic
Select item 147686	GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	ADD1, ADRA2C +290 more	Copy number loss	See cases	GPathogenic
Select item 147562	GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	ADD1, ATP5ME +271 more	Copy number loss	See cases	GPathogenic
Select item 147376	GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	ADD1, ADRA2C +363 more	Copy number loss	See cases	GPathogenic
Select item 146353	GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	TACC3, TADA2B +657 more	Copy number loss	See cases	GPathogenic
Select item 146279	GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	LOC129992040, LOC129992041 +313 more	Copy number loss	See cases	GPathogenic
Select item 146219	GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	LOC129992257, LOC129992258 +623 more	Copy number loss	See cases	GPathogenic
Select item 144364	GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	LOC129992063, LOC129992064 +323 more	Copy number loss	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	LOC129992439, LOC129992440 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58012	GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	ADD1, ADRA2C +327 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992004, LOC129992005 +861 more	Copy number gain	See cases	GPathogenic
Select item 57935	GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	LOC129992063, LOC129992064 +322 more	Copy number loss	See cases	GPathogenic
Select item 57933	GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	ADD1, ADRA2C +278 more	Copy number gain	See cases	GPathogenic
Select item 57929	GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	RNF4, SCARNA22 +319 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 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 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992188, LOC129992189 +832 more	Copy number loss	See cases	GPathogenic
Select item 57901	GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	ADD1, ADRA2C +438 more	Copy number loss	See cases	GPathogenic
Select item 146023	GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	LOC129992143, LOC129992144 +618 more	Copy number gain	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 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	LOC123477718, LOC123477719 +987 more	Copy number gain	See cases	GPathogenic
Select item 58014	GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	ADD1, ADRA2C +300 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	USP17L13, USP17L15 +716 more	Copy number gain	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 57937	GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	LOC129992238, LOC129992239 +659 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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 146113	GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	ABLIM2, ACOX3 +500 more	Copy number loss	See cases	GPathogenic
Select item 57182	GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	ADD1, ATP5ME +206 more	Copy number gain	See cases	GPathogenic
Select item 153619	GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1	ADD1, ADRA2C +216 more	Copy number loss	See cases	GPathogenic
Select item 154242	GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1	ADD1, CFAP99 +118 more	Copy number loss	See cases	GLikely pathogenic
Select item 149071	GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3	ADD1, ADRA2C +149 more	Copy number gain	See cases	GUncertain significance
Select item 2549639	NM_024309.4(TNIP2):c.1183G>A (p.Ala395Thr)	TNIP2 (A312T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3180372	NM_024309.4(TNIP2):c.1181G>A (p.Gly394Asp)	TNIP2 (G287D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180371	NM_024309.4(TNIP2):c.1142C>T (p.Ser381Phe)	TNIP2 (S298F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482893	NM_024309.4(TNIP2):c.1045G>C (p.Ala349Pro)	TNIP2 (A349P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593550	NM_024309.4(TNIP2):c.1034G>A (p.Arg345Gln)	TNIP2 (R345Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288351	NM_024309.4(TNIP2):c.1006C>T (p.His336Tyr)	TNIP2 (H253Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320177	NM_024309.4(TNIP2):c.994G>A (p.Ala332Thr)	TNIP2 (A225T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2350130	NM_024309.4(TNIP2):c.882G>C (p.Glu294Asp)	TNIP2 (E294D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245754	NM_024309.4(TNIP2):c.872C>T (p.Ala291Val)	TNIP2 (A291V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341485	NM_024309.4(TNIP2):c.865C>T (p.Arg289Trp)	TNIP2 (R182W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180377	NM_024309.4(TNIP2):c.717G>C (p.Arg239Ser)	TNIP2 (R132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180376	NM_024309.4(TNIP2):c.716G>C (p.Arg239Thr)	TNIP2 (R132T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328470	NM_024309.4(TNIP2):c.712G>T (p.Val238Leu)	TNIP2 (V238L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654589	NM_024309.4(TNIP2):c.706G>A (p.Glu236Lys)	TNIP2 (E129K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2356824	NM_024309.4(TNIP2):c.685C>T (p.Arg229Cys)	TNIP2 (R122C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549909	NM_024309.4(TNIP2):c.684G>T (p.Gln228His)	TNIP2 (Q121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541296	NM_024309.4(TNIP2):c.667C>T (p.Leu223Phe)	TNIP2 (L116F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602189	NM_024309.4(TNIP2):c.650T>C (p.Val217Ala)	TNIP2 (V110A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372275	NM_024309.4(TNIP2):c.632G>A (p.Arg211Gln)	TNIP2 (R104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180375	NM_024309.4(TNIP2):c.614A>G (p.Lys205Arg)	TNIP2 (K205R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325768	NM_024309.4(TNIP2):c.550G>C (p.Glu184Gln)	TNIP2 (E77Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385959	NM_024309.4(TNIP2):c.463C>T (p.Arg155Trp)	TNIP2 (R48W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280987	NM_024309.4(TNIP2):c.441G>C (p.Leu147Phe)	TNIP2 (L40F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540639	NM_024309.4(TNIP2):c.433C>T (p.Arg145Cys)	LOC129992055, TNIP2 (R145C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312487	NM_024309.4(TNIP2):c.424G>A (p.Val142Ile)	LOC129992055, TNIP2 (V35I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549015	NM_024309.4(TNIP2):c.421G>A (p.Asp141Asn)	LOC129992055, TNIP2 (D141N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279087	NM_024309.4(TNIP2):c.356G>A (p.Arg119Gln)	TNIP2 (R12Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276529	NM_024309.4(TNIP2):c.347A>C (p.Gln116Pro)	TNIP2 (Q116P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221459	NM_024309.4(TNIP2):c.335T>G (p.Leu112Arg)	TNIP2 (L112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180374	NM_024309.4(TNIP2):c.224G>A (p.Arg75Gln)	LOC129992057, TNIP2 (R75Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3180373	NM_024309.4(TNIP2):c.215C>T (p.Ala72Val)	LOC129992057, TNIP2 (A72V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2609272	NM_024309.4(TNIP2):c.190G>A (p.Val64Met)	LOC129992057, TNIP2 (V64M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2551893	NM_024309.4(TNIP2):c.149C>A (p.Ala50Asp)	LOC129992057, TNIP2 (A50D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2518824	NM_024309.4(TNIP2):c.108C>G (p.Asp36Glu)	LOC129992057, TNIP2 (D36E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467890	NM_024309.4(TNIP2):c.36G>C (p.Glu12Asp)	LOC129992057, TNIP2 (E12D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2352160	NM_024309.4(TNIP2):c.8G>A (p.Arg3Gln)	LOC129992057, TNIP2 (R3Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
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

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