ClinVar for Gene (Select 10160) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 179

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154958	NM_178861.5(RNF113B):c.962A>C (p.Lys321Thr)	FARP1, RNF113B (K321T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154957	NM_178861.5(RNF113B):c.886C>T (p.Pro296Ser)	FARP1, RNF113B (P296S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3154956	NM_178861.5(RNF113B):c.563G>A (p.Arg188His)	FARP1, RNF113B (R188H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154955	NM_178861.5(RNF113B):c.536C>G (p.Ala179Gly)	FARP1, RNF113B (A179G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154953	NM_178861.5(RNF113B):c.355G>A (p.Glu119Lys)	FARP1, RNF113B (E119K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154952	NM_178861.5(RNF113B):c.271G>A (p.Asp91Asn)	FARP1, RNF113B (D91N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154951	NM_178861.5(RNF113B):c.251A>C (p.Glu84Ala)	FARP1, RNF113B (E84A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154950	NM_178861.5(RNF113B):c.176C>G (p.Pro59Arg)	FARP1, RNF113B (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3092878	NM_005766.4(FARP1):c.3111G>C (p.Leu1037Phe)	FARP1, STK24 (L1068F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092877	NM_005766.4(FARP1):c.304G>A (p.Val102Met)	FARP1 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092876	NM_005766.4(FARP1):c.2890T>C (p.Tyr964His)	FARP1, STK24 (Y964H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092875	NM_005766.4(FARP1):c.2739C>A (p.His913Gln)	FARP1 (H944Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092874	NM_005766.4(FARP1):c.2733G>T (p.Met911Ile)	FARP1 (M942I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092873	NM_005766.4(FARP1):c.2648C>G (p.Thr883Ser)	FARP1 (T883S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092871	NM_005766.4(FARP1):c.2372G>C (p.Arg791Pro)	FARP1 (R791P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092870	NM_005766.4(FARP1):c.2244T>G (p.Ile748Met)	FARP1, FARP1-AS1 (I748M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092869	NM_005766.4(FARP1):c.2093G>C (p.Arg698Pro)	FARP1 (R698P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092868	NM_005766.4(FARP1):c.2060A>C (p.His687Pro)	FARP1 (H687P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092867	NM_005766.4(FARP1):c.1466G>C (p.Gly489Ala)	FARP1 (G489A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092866	NM_005766.4(FARP1):c.1460C>T (p.Ser487Leu)	FARP1 (S487L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092865	NM_005766.4(FARP1):c.1105C>G (p.His369Asp)	FARP1 (H369D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2681273	NM_005766.4(FARP1):c.1461G>A (p.Ser487=)	FARP1	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2643885	NM_005766.4(FARP1):c.2163G>T (p.Thr721=)	FARP1, FARP1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643884	NM_005766.4(FARP1):c.450G>A (p.Thr150=)	FARP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611570	NM_005766.4(FARP1):c.2402T>G (p.Val801Gly)	FARP1 (V832G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610075	NM_005766.4(FARP1):c.1255G>A (p.Ala419Thr)	FARP1 (A419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601921	NM_005766.4(FARP1):c.2285G>A (p.Arg762His)	FARP1 (R762H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598071	NM_005766.4(FARP1):c.2719C>T (p.Arg907Cys)	FARP1 (R907C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591517	NM_178861.5(RNF113B):c.506C>T (p.Ser169Leu)	FARP1, RNF113B (S169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2559328	NM_178861.5(RNF113B):c.79C>T (p.Arg27Trp)	FARP1, RNF113B (R27W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546482	NM_005766.4(FARP1):c.662G>A (p.Arg221Gln)	FARP1 (R221Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546374	NM_005766.4(FARP1):c.672G>A (p.Met224Ile)	FARP1 (M224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541598	NM_178861.5(RNF113B):c.103A>G (p.Lys35Glu)	FARP1, RNF113B (K35E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532055	NM_005766.4(FARP1):c.1091A>G (p.Lys364Arg)	FARP1 (K364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531365	NM_005766.4(FARP1):c.595T>A (p.Phe199Ile)	FARP1 (F199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527995	NM_005766.4(FARP1):c.2897C>T (p.Ser966Leu)	FARP1, STK24 (S966L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527339	NM_005766.4(FARP1):c.2764G>A (p.Val922Ile)	FARP1 (V953I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520858	NM_178861.5(RNF113B):c.293G>A (p.Arg98His)	FARP1, RNF113B (R98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514305	NM_178861.5(RNF113B):c.4G>C (p.Ala2Pro)	FARP1, RNF113B (A2P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508836	NM_005766.4(FARP1):c.1595G>A (p.Arg532Gln)	FARP1 (R532Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508765	NM_005766.4(FARP1):c.2557A>G (p.Met853Val)	FARP1 (M884V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488030	NM_005766.4(FARP1):c.3089C>T (p.Ser1030Phe)	FARP1, STK24 (S1061F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484267	NM_178861.5(RNF113B):c.231C>A (p.His77Gln)	FARP1, RNF113B (H77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482866	NM_005766.4(FARP1):c.19A>G (p.Arg7Gly)	FARP1 (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482219	NM_178861.5(RNF113B):c.863C>T (p.Pro288Leu)	FARP1, RNF113B (P288L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481694	NM_005766.4(FARP1):c.1741A>G (p.Lys581Glu)	FARP1 (K581E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477215	NM_178861.5(RNF113B):c.133G>A (p.Glu45Lys)	FARP1, RNF113B (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470066	NM_005766.4(FARP1):c.1574C>T (p.Thr525Met)	FARP1 (T525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458955	NM_005766.4(FARP1):c.62G>A (p.Gly21Glu)	FARP1 (G21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458242	NM_005766.4(FARP1):c.1469G>T (p.Gly490Val)	FARP1 (G490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2406724	NM_005766.4(FARP1):c.2284C>T (p.Arg762Cys)	FARP1 (R793C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398683	NM_178861.5(RNF113B):c.742G>A (p.Glu248Lys)	FARP1, RNF113B (E248K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397214	NM_178861.5(RNF113B):c.361G>A (p.Glu121Lys)	FARP1, RNF113B (E121K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395658	NM_005766.4(FARP1):c.1816C>G (p.Leu606Val)	FARP1 (L606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384850	NM_005766.4(FARP1):c.1046A>C (p.Asp349Ala)	FARP1 (D349A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384450	NM_005766.4(FARP1):c.2381C>T (p.Thr794Met)	FARP1 (T825M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381993	NM_005766.4(FARP1):c.364C>T (p.Pro122Ser)	FARP1 (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381825	NM_005766.4(FARP1):c.2633C>A (p.Ser878Tyr)	FARP1 (S878Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347912	NM_005766.4(FARP1):c.1831G>A (p.Gly611Ser)	FARP1 (G611S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345422	NM_005766.4(FARP1):c.610A>G (p.Ile204Val)	FARP1 (I204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343586	NM_005766.4(FARP1):c.2483G>A (p.Arg828Gln)	FARP1 (R828Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341450	NM_005766.4(FARP1):c.1465G>T (p.Gly489Trp)	FARP1 (G489W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335238	NM_005766.4(FARP1):c.275C>T (p.Thr92Met)	FARP1 (T92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334329	NM_178861.5(RNF113B):c.292C>T (p.Arg98Cys)	FARP1, RNF113B (R98C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310142	NM_178861.5(RNF113B):c.456C>G (p.Ser152Arg)	FARP1, RNF113B (S152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304291	NM_005766.4(FARP1):c.1568C>G (p.Pro523Arg)	FARP1 (P523R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298801	NM_001032296.4(STK24):c.1285T>G (p.Ser429Ala)	FARP1, STK24 (S410A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2291962	NM_178861.5(RNF113B):c.80G>T (p.Arg27Leu)	FARP1, RNF113B (R27L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289179	NM_005766.4(FARP1):c.1685T>C (p.Ile562Thr)	FARP1 (I562T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287720	NM_005766.4(FARP1):c.2152G>C (p.Ala718Pro)	FARP1, FARP1-AS1 (A718P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286453	NM_178861.5(RNF113B):c.107G>A (p.Arg36His)	FARP1, RNF113B (R36H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284862	NM_005766.4(FARP1):c.2837G>A (p.Ser946Asn)	FARP1, STK24 (S946N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279670	NM_005766.4(FARP1):c.1154T>C (p.Val385Ala)	FARP1 (V385A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278660	NM_005766.4(FARP1):c.449C>T (p.Thr150Met)	FARP1 (T150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277972	NM_178861.5(RNF113B):c.40G>A (p.Ala14Thr)	FARP1, RNF113B (A14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277444	NM_005766.4(FARP1):c.2945C>T (p.Ser982Leu)	FARP1, STK24 (S982L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274837	NM_005766.4(FARP1):c.1197A>T (p.Glu399Asp)	FARP1 (E399D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267179	NM_005766.4(FARP1):c.1289C>G (p.Pro430Arg)	FARP1 (P430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266074	NM_178861.5(RNF113B):c.887C>T (p.Pro296Leu)	FARP1, RNF113B (P296L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254375	NM_178861.5(RNF113B):c.646G>A (p.Asp216Asn)	FARP1, RNF113B (D216N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252793	NM_005766.4(FARP1):c.2870C>G (p.Thr957Arg)	FARP1, STK24 (T988R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250087	NM_005766.4(FARP1):c.2522G>C (p.Arg841Pro)	FARP1 (R872P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244521	NM_005766.4(FARP1):c.2122G>A (p.Ala708Thr)	FARP1 (A708T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233994	NM_005766.4(FARP1):c.1264C>G (p.Pro422Ala)	FARP1 (P422A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215892	NM_005766.4(FARP1):c.1484A>G (p.Asn495Ser)	FARP1 (N495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206567	NM_005766.4(FARP1):c.1976G>A (p.Arg659Gln)	FARP1 (R659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809091	GRCh37/hg19 13q32.2(chr13:98720234-99172213)x3	FARP1, RNF113B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808883	GRCh37/hg19 13q32.2(chr13:98654981-98914693)x3	FARP1, IPO5 +1 more	Copy number gain	not provided	GUncertain significance

<< First< Prev

Page of 2