FNIP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 149528	GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3	C4orf46, ETFDH +31 more	Copy number gain	See cases	GUncertain significance
Select item 2525317	NM_020840.3(FNIP2):c.65C>T (p.Ala22Val)	FNIP2 (A22V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2333625	NM_020840.3(FNIP2):c.112T>C (p.Ser38Pro)	FNIP2 (S38P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279446	NM_020840.3(FNIP2):c.287G>A (p.Ser96Asn)	FNIP2 (S119N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096152	NM_020840.3(FNIP2):c.395C>T (p.Ala132Val)	FNIP2 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286061	NM_020840.3(FNIP2):c.634T>C (p.Cys212Arg)	FNIP2 (C212R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515241	NM_020840.3(FNIP2):c.785C>G (p.Ser262Cys)	FNIP2 (S262C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096153	NM_020840.3(FNIP2):c.891A>T (p.Glu297Asp)	FNIP2 (E350D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279439	NM_020840.3(FNIP2):c.937A>G (p.Ile313Val)	FNIP2 (I336V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554870	NM_020840.3(FNIP2):c.941G>A (p.Ser314Asn)	FNIP2 (S337N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312043	NM_020840.3(FNIP2):c.994T>G (p.Phe332Val)	FNIP2 (F355V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312044	NM_020840.3(FNIP2):c.995T>A (p.Phe332Tyr)	FNIP2 (F385Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294275	NM_020840.3(FNIP2):c.1037G>A (p.Arg346Lys)	FNIP2 (R369K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282167	NM_020840.3(FNIP2):c.1121G>A (p.Arg374His)	FNIP2 (R20H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302692	NM_020840.3(FNIP2):c.1168T>C (p.Tyr390His)	FNIP2 (Y443H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221356	NM_020840.3(FNIP2):c.1255A>G (p.Lys419Glu)	FNIP2 (K419E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231944	NM_020840.3(FNIP2):c.1275A>G (p.Ile425Met)	FNIP2 (I425M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517322	NM_020840.3(FNIP2):c.1319C>T (p.Ala440Val)	FNIP2 (A440V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476912	NM_020840.3(FNIP2):c.1351A>G (p.Thr451Ala)	FNIP2 (T97A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096135	NM_020840.3(FNIP2):c.1402A>G (p.Thr468Ala)	FNIP2 (T114A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708521	NM_020840.3(FNIP2):c.1476C>T (p.Tyr492=)	FNIP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096136	NM_020840.3(FNIP2):c.1519G>A (p.Val507Ile)	FNIP2 (V530I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223991	NM_020840.3(FNIP2):c.1531A>G (p.Lys511Glu)	FNIP2 (K157E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279440	NM_020840.3(FNIP2):c.1573C>T (p.Leu525Phe)	FNIP2 (L171F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774858	NM_020840.3(FNIP2):c.1615G>C (p.Gly539Arg)	FNIP2 (G562R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528101	NM_020840.3(FNIP2):c.1625G>A (p.Gly542Asp)	FNIP2 (G188D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400980	NM_020840.3(FNIP2):c.1625G>C (p.Gly542Ala)	FNIP2 (G542A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096137	NM_020840.3(FNIP2):c.1712C>T (p.Thr571Met)	FNIP2 (T571M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655159	NM_020840.3(FNIP2):c.1713G>A (p.Thr571=)	FNIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096138	NM_020840.3(FNIP2):c.1732C>G (p.Leu578Val)	FNIP2 (L601V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271196	NM_020840.3(FNIP2):c.1754C>A (p.Pro585Gln)	FNIP2 (P638Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591048	NM_020840.3(FNIP2):c.1822A>G (p.Arg608Gly)	FNIP2 (R254G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511628	NM_020840.3(FNIP2):c.1891G>A (p.Ala631Thr)	FNIP2 (A631T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 715499	NM_020840.3(FNIP2):c.1893A>G (p.Ala631=)	FNIP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3096139	NM_020840.3(FNIP2):c.1898G>T (p.Cys633Phe)	FNIP2 (C279F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096140	NM_020840.3(FNIP2):c.1918G>A (p.Ala640Thr)	FNIP2 (A693T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609019	NM_020840.3(FNIP2):c.1970C>G (p.Ala657Gly)	FNIP2 (A680G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096141	NM_020840.3(FNIP2):c.2014G>A (p.Gly672Arg)	FNIP2 (G318R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096142	NM_020840.3(FNIP2):c.2039A>G (p.Gln680Arg)	FNIP2 (Q703R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362086	NM_020840.3(FNIP2):c.2062G>A (p.Val688Met)	FNIP2 (V334M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314299	NM_020840.3(FNIP2):c.2070G>A (p.Met690Ile)	FNIP2 (M336I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520682	NM_020840.3(FNIP2):c.2089C>T (p.Arg697Trp)	FNIP2 (R720W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279441	NM_020840.3(FNIP2):c.2123T>C (p.Leu708Pro)	FNIP2 (L761P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096143	NM_020840.3(FNIP2):c.2125C>T (p.Arg709Trp)	FNIP2 (R732W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209926	NM_020840.3(FNIP2):c.2126G>A (p.Arg709Gln)	FNIP2 (R355Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510932	NM_020840.3(FNIP2):c.2201G>A (p.Arg734His)	FNIP2 (R380H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490775	NM_020840.3(FNIP2):c.2213T>C (p.Met738Thr)	FNIP2 (M384T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096144	NM_020840.3(FNIP2):c.2220A>T (p.Glu740Asp)	FNIP2 (E386D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774444	NM_020840.3(FNIP2):c.2222G>A (p.Arg741Gln)	FNIP2 (R387Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2262847	NM_020840.3(FNIP2):c.2324A>G (p.Asn775Ser)	FNIP2 (N828S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096145	NM_020840.3(FNIP2):c.2344C>T (p.Arg782Trp)	FNIP2 (R805W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279444	NM_020840.3(FNIP2):c.2354A>G (p.Glu785Gly)	FNIP2 (E785G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096146	NM_020840.3(FNIP2):c.2368G>A (p.Glu790Lys)	FNIP2 (E436K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270712	NM_020840.3(FNIP2):c.2371T>A (p.Ser791Thr)	FNIP2 (S814T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528970	NM_020840.3(FNIP2):c.2413A>G (p.Met805Val)	FNIP2 (M805V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329588	NM_020840.3(FNIP2):c.2449G>A (p.Ala817Thr)	FNIP2 (A840T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096147	NM_020840.3(FNIP2):c.2465C>T (p.Ala822Val)	FNIP2 (A468V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308903	NM_020840.3(FNIP2):c.2540G>A (p.Gly847Glu)	FNIP2 (G493E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096149	NM_020840.3(FNIP2):c.2584C>T (p.Pro862Ser)	FNIP2 (P915S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096150	NM_020840.3(FNIP2):c.2593G>A (p.Val865Met)	FNIP2 (V511M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316739	NM_020840.3(FNIP2):c.2630A>G (p.Lys877Arg)	FNIP2 (K900R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2461361	NM_020840.3(FNIP2):c.2768T>C (p.Leu923Ser)	FNIP2 (L946S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492743	NM_020840.3(FNIP2):c.2833C>T (p.Arg945Cys)	FNIP2 (R591C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279445	NM_020840.3(FNIP2):c.2927C>T (p.Ala976Val)	FNIP2 (A1029V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368090	NM_020840.3(FNIP2):c.3010T>C (p.Trp1004Arg)	FNIP2 (W650R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279443	NM_020840.3(FNIP2):c.3014G>T (p.Ser1005Ile)	FNIP2 (S1005I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279495	NM_020840.3(FNIP2):c.3047C>T (p.Thr1016Met)	FNIP2 (T1039M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2520592	NM_020840.3(FNIP2):c.3055A>G (p.Met1019Val)	FNIP2 (M1042V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618632	NM_020840.3(FNIP2):c.3097A>G (p.Ser1033Gly)	FNIP2 (S1056G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348177	NM_020840.3(FNIP2):c.3112A>G (p.Ile1038Val)	FNIP2 (I1038V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352208	NM_020840.3(FNIP2):c.3184A>G (p.Met1062Val)	FNIP2, SPMIP2 (M1085V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279442	NM_020840.3(FNIP2):c.3287C>T (p.Pro1096Leu)	FNIP2, SPMIP2 (P1096L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062776	GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1	C4orf46, ETFDH +6 more	Copy number loss	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1808169	GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3	C4orf46, ETFDH +5 more	Copy number gain	not provided	GUncertain significance
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687836	GRCh37/hg19 4q32.1-32.2(chr4:159640893-161810965)x3	C4orf45, FNIP2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685090	GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1	GRIA2, PPID +9 more	Copy number loss	not provided	GUncertain significance
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic

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