ClinVar for Gene (Select 84188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277694	NM_032228.6(FAR1):c.1110G>T (p.Met370Ile)	FAR1 (M370I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277693	NM_032228.6(FAR1):c.950A>G (p.Glu317Gly)	FAR1 (E317G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092859	NM_032228.6(FAR1):c.298G>A (p.Val100Met)	FAR1 (V100M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027100	NM_032228.6(FAR1):c.575T>A (p.Ile192Asn)	FAR1 (I192N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008311	NM_032228.6(FAR1):c.546-18A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994928	NM_032228.6(FAR1):c.887+20C>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992760	NM_032228.6(FAR1):c.792A>G (p.Thr264=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991918	NM_032228.6(FAR1):c.1122C>T (p.Ser374=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990596	NM_032228.6(FAR1):c.887+11T>G	FAR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2990116	NM_032228.6(FAR1):c.1127+17_1127+18del	FAR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2986878	NM_032228.6(FAR1):c.388A>G (p.Ile130Val)	FAR1 (I130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982008	NM_032228.6(FAR1):c.1034A>G (p.Asn345Ser)	FAR1 (N345S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978711	NM_032228.6(FAR1):c.956-18A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977491	NM_032228.6(FAR1):c.1221T>C (p.Asn407=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971913	NM_032228.6(FAR1):c.229G>C (p.Glu77Gln)	FAR1 (E77Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2970593	NM_032228.6(FAR1):c.545+13_545+15delinsATG	FAR1	Indel (intron variant)	not provided	GUncertain significance
Select item 2967585	NM_032228.6(FAR1):c.955+12C>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966672	NM_032228.6(FAR1):c.1265A>G (p.Asn422Ser)	FAR1 (N422S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966587	NM_032228.6(FAR1):c.892A>G (p.Arg298Gly)	FAR1 (R298G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959993	NM_032228.6(FAR1):c.1042T>A (p.Leu348Ile)	FAR1 (L348I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958375	NM_032228.6(FAR1):c.102T>C (p.Cys34=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903021	NM_032228.6(FAR1):c.561C>T (p.Gly187=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898445	NM_032228.6(FAR1):c.485A>T (p.His162Leu)	FAR1 (H162L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890784	NM_032228.6(FAR1):c.851T>C (p.Met284Thr)	FAR1 (M284T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882111	NM_032228.6(FAR1):c.690G>A (p.Ser230=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881703	NM_032228.6(FAR1):c.586T>C (p.Leu196=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879155	NM_032228.6(FAR1):c.921A>T (p.Thr307=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877481	NM_032228.6(FAR1):c.998A>G (p.Gln333Arg)	FAR1 (Q333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875655	NM_032228.6(FAR1):c.444C>T (p.Phe148=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875328	NM_032228.6(FAR1):c.1385+10A>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857718	NM_032228.6(FAR1):c.956-17C>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857232	NM_032228.6(FAR1):c.478C>A (p.Arg160Ser)	FAR1 (R160S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857010	NM_032228.6(FAR1):c.1419C>G (p.Ile473Met)	FAR1 (I473M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852938	NM_032228.6(FAR1):c.658G>A (p.Ala220Thr)	FAR1 (A220T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849345	NM_032228.6(FAR1):c.225T>G (p.Phe75Leu)	FAR1 (F75L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847956	NM_032228.6(FAR1):c.220G>T (p.Asp74Tyr)	FAR1 (D74Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838310	NM_032228.6(FAR1):c.212A>G (p.Glu71Gly)	FAR1 (E71G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831146	NM_032228.6(FAR1):c.688T>C (p.Ser230Pro)	FAR1 (S230P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822668	NM_032228.6(FAR1):c.601C>A (p.Pro201Thr)	FAR1 (P201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820337	NM_032228.6(FAR1):c.588G>C (p.Leu196Phe)	FAR1 (L196F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814148	NM_032228.6(FAR1):c.13C>G (p.Pro5Ala)	FAR1 (P5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812271	NM_032228.6(FAR1):c.1237C>T (p.Leu413=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2811292	NM_032228.6(FAR1):c.797G>T (p.Arg266Leu)	FAR1 (R266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803885	NM_032228.6(FAR1):c.831T>G (p.Pro277=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803136	NM_032228.6(FAR1):c.1293A>G (p.Ala431=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801885	NM_032228.6(FAR1):c.768+17A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801884	NM_032228.6(FAR1):c.768+15del	FAR1	Deletion (intron variant)	not provided	GBenign
Select item 2799826	NM_032228.6(FAR1):c.258C>A (p.Leu86=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799504	NM_032228.6(FAR1):c.955+10T>C	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799370	NM_032228.6(FAR1):c.311C>G (p.Ser104Cys)	FAR1 (S104C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797596	NM_032228.6(FAR1):c.1386-17_1386-16del	FAR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2794501	NM_032228.6(FAR1):c.840A>G (p.Val280=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793790	NM_032228.6(FAR1):c.1385+9G>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793333	NM_032228.6(FAR1):c.387G>T (p.Val129=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790757	NM_032228.6(FAR1):c.256C>G (p.Leu86Val)	FAR1 (L86V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788711	NM_032228.6(FAR1):c.1386-8C>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776301	NM_032228.6(FAR1):c.242C>G (p.Ala81Gly)	FAR1 (A81G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771396	NM_032228.6(FAR1):c.1275A>T (p.Val425=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2768730	NM_032228.6(FAR1):c.908A>G (p.Tyr303Cys)	FAR1 (Y303C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768535	NM_032228.6(FAR1):c.769-7A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767106	NM_032228.6(FAR1):c.543A>C (p.Leu181Phe)	FAR1 (L181F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764260	NM_032228.6(FAR1):c.40CTC[1] (p.Leu15del)	FAR1 (L15del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2762738	NM_032228.6(FAR1):c.833T>C (p.Val278Ala)	FAR1 (V278A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754207	NM_032228.6(FAR1):c.956-16A>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751366	NM_032228.6(FAR1):c.397C>T (p.Arg133Ter)	FAR1 (R133*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2745084	NM_032228.6(FAR1):c.678T>C (p.Ile226=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739544	NM_032228.6(FAR1):c.483G>A (p.Lys161=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719594	NM_032228.6(FAR1):c.628T>C (p.Leu210=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718875	NM_032228.6(FAR1):c.955+13C>T	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718767	NM_032228.6(FAR1):c.392C>G (p.Ala131Gly)	FAR1 (A131G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707143	NM_032228.6(FAR1):c.744T>C (p.Asn248=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703900	NM_032228.6(FAR1):c.227G>C (p.Arg76Thr)	FAR1 (R76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703898	NM_032228.6(FAR1):c.749C>A (p.Pro250Gln)	FAR1 (P250Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692705	NM_032228.6(FAR1):c.888-6T>C	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2684637	GRCh37/hg19 11p15.2(chr11:13446803-13696943)x3	BTBD10, FAR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2582124	NM_032228.6(FAR1):c.1297T>C (p.Tyr433His)	FAR1 (Y433H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2544924	NM_032228.6(FAR1):c.209A>G (p.Asp70Gly)	FAR1 (D70G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2499852	NM_032228.6(FAR1):c.1537A>G (p.Met513Val)	FAR1 (M513V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445439	NM_032228.6(FAR1):c.1438C>A (p.Arg480Ser)	FAR1 (R480S)	Single nucleotide variant (missense variant)	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY	GLikely pathogenic
Select item 2441355	NM_032228.6(FAR1):c.231G>T (p.Glu77Asp)	FAR1 (E77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421305	NM_032228.6(FAR1):c.1400G>A (p.Arg467His)	FAR1 (R467H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2333757	NM_032228.6(FAR1):c.250A>C (p.Ser84Arg)	FAR1 (S84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189876	NM_032228.6(FAR1):c.941A>C (p.His314Pro)	FAR1 (H314P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189195	NM_032228.6(FAR1):c.1089G>A (p.Leu363=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186238	NM_032228.6(FAR1):c.904G>C (p.Val302Leu)	FAR1 (V302L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178897	NM_032228.6(FAR1):c.861G>A (p.Ala287=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169952	NM_032228.6(FAR1):c.135G>A (p.Arg45=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164890	NM_032228.6(FAR1):c.239T>C (p.Ile80Thr)	FAR1 (I80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132702	NM_032228.6(FAR1):c.906G>T (p.Val302=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131956	NM_032228.6(FAR1):c.122A>G (p.Tyr41Cys)	FAR1 (Y41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131234	NM_032228.6(FAR1):c.1411A>G (p.Asn471Asp)	FAR1 (N471D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126279	NM_032228.6(FAR1):c.1257+10T>C	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120555	NM_032228.6(FAR1):c.295G>C (p.Glu99Gln)	FAR1 (E99Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114860	NM_032228.6(FAR1):c.769-13A>C	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112515	NM_032228.6(FAR1):c.546-20G>A	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111763	NM_032228.6(FAR1):c.775A>C (p.Lys259Gln)	FAR1 (K259Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111617	NM_032228.6(FAR1):c.1026A>G (p.Leu342=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108194	NM_032228.6(FAR1):c.365+8C>G	FAR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108014	NM_032228.6(FAR1):c.1494T>C (p.Ser498=)	FAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106742	NM_032228.6(FAR1):c.451G>C (p.Val151Leu)	FAR1 (V151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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