ClinVar for Gene (Select 79155) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327570	NM_024309.4(TNIP2):c.990G>T (p.Lys330Asn)	TNIP2 (K330N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327569	NM_024309.4(TNIP2):c.488A>G (p.His163Arg)	TNIP2 (H56R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327568	NM_024309.4(TNIP2):c.83G>C (p.Gly28Ala)	LOC129992057, TNIP2 (G28A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3327567	NM_024309.4(TNIP2):c.776A>C (p.Lys259Thr)	TNIP2 (K152T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
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 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 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 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 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1809277	GRCh37/hg19 4p16.3(chr4:2619318-2849268)x3	ADD1, FAM193A +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	MAEA, MFSD10 +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979457	GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1	RGS12, LRPAP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 832912	NC_000004.12:g.(?_2059492)_(2833854_?)del	TNIP2, ZFYVE28 +7 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562882	GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3	SH3BP2, TNIP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562880	GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3	NAT8L, GRK4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442291	GRCh37/hg19 4p16.3(chr4:68345-3713599)x3	ADD1, ATP5ME +51 more	Copy number gain	See cases	GLikely pathogenic
Select item 442268	GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	ABLIM2, ACOX3 +114 more	Copy number loss	See cases	GPathogenic
Select item 442177	GRCh37/hg19 4p16.3(chr4:68345-3891984)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 441927	GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1	ADD1, ADRA2C +61 more	Copy number loss	See cases	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic

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