FARP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 150153	GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1	LOC130010040, LOC130010041 +236 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 58279	GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3	DOCK9, DOCK9-AS1 +98 more	Copy number gain	See cases	GUncertain significance
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 3314681	NM_178861.5(RNF113B):c.577C>T (p.Pro193Ser)	FARP1, RNF113B (P193S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 3314682	NM_178861.5(RNF113B):c.311G>A (p.Gly104Glu)	FARP1, RNF113B (G104E)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 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 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 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 2482866	NM_005766.4(FARP1):c.19A>G (p.Arg7Gly)	FARP1 (R7G)	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 3277704	NM_005766.4(FARP1):c.122C>G (p.Ser41Cys)	FARP1 (S41C)	Single nucleotide variant (missense variant)	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 3277705	NM_005766.4(FARP1):c.257C>G (p.Pro86Arg)	FARP1 (P86R)	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 3092877	NM_005766.4(FARP1):c.304G>A (p.Val102Met)	FARP1 (V102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277711	NM_005766.4(FARP1):c.335T>G (p.Val112Gly)	FARP1 (V112G)	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 2278660	NM_005766.4(FARP1):c.449C>T (p.Thr150Met)	FARP1 (T150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643884	NM_005766.4(FARP1):c.450G>A (p.Thr150=)	FARP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3277709	NM_005766.4(FARP1):c.521C>A (p.Ala174Asp)	FARP1 (A174D)	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 2345422	NM_005766.4(FARP1):c.610A>G (p.Ile204Val)	FARP1 (I204V)	Single nucleotide variant (missense variant)	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 3277703	NM_005766.4(FARP1):c.800G>A (p.Arg267Gln)	FARP1 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277699	NM_005766.4(FARP1):c.841C>T (p.Arg281Trp)	FARP1 (R281W)	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 2532055	NM_005766.4(FARP1):c.1091A>G (p.Lys364Arg)	FARP1 (K364R)	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 2279670	NM_005766.4(FARP1):c.1154T>C (p.Val385Ala)	FARP1 (V385A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277706	NM_005766.4(FARP1):c.1186A>G (p.Thr396Ala)	FARP1 (T396A)	Single nucleotide variant (missense variant)	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 2610075	NM_005766.4(FARP1):c.1255G>A (p.Ala419Thr)	FARP1 (A419T)	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 2267179	NM_005766.4(FARP1):c.1289C>G (p.Pro430Arg)	FARP1 (P430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277701	NM_005766.4(FARP1):c.1330G>C (p.Ala444Pro)	FARP1 (A444P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277707	NM_005766.4(FARP1):c.1337C>T (p.Ala446Val)	FARP1 (A446V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2341450	NM_005766.4(FARP1):c.1465G>T (p.Gly489Trp)	FARP1 (G489W)	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 2458242	NM_005766.4(FARP1):c.1469G>T (p.Gly490Val)	FARP1 (G490V)	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 3277702	NM_005766.4(FARP1):c.1486G>A (p.Val496Met)	FARP1 (V496M)	Single nucleotide variant (missense variant)	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 2470066	NM_005766.4(FARP1):c.1574C>T (p.Thr525Met)	FARP1 (T525M)	Single nucleotide variant (missense variant)	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 2289179	NM_005766.4(FARP1):c.1685T>C (p.Ile562Thr)	FARP1 (I562T)	Single nucleotide variant (missense variant)	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 2395658	NM_005766.4(FARP1):c.1816C>G (p.Leu606Val)	FARP1 (L606V)	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 3277713	NM_005766.4(FARP1):c.1933A>G (p.Ser645Gly)	FARP1 (S645G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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