Unique variants in gene SYN1

Information The variants shown are described using the NM_006950.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 2 - c.-4673C>T r.(?) p.(=) - benign g.47483800G>A g.47624401G>A CFP(NM_002621.2):c.1284C>T (p.N428=) - CFP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
?/. 1 - c.-4629A>G r.(?) p.(=) - VUS g.47483756T>C g.47624357T>C CFP(NM_002621.2):c.1328A>G (p.Q443R) - SYN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-81T>C r.(?) p.(=) - likely benign g.47479208A>G g.47619809A>G SYN1(NM_006950.3):c.-81T>C - SYN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-28C>G r.(?) p.(=) - likely benign g.47479155G>C g.47619756G>C SYN1(NM_006950.3):c.-28C>G - SYN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.2del r.(?) p.0? - likely pathogenic g.47479126del g.47619727del 2delT (Met1fs) - SYN1_000020 - - - - Germline/De novo (untested) - - - - - IMGAG
-?/. 1 - c.139G>A r.(?) p.(Gly47Arg) - likely benign g.47478989C>T g.47619590C>T SYN1(NM_006950.3):c.139G>A (p.G47R) - SYN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.152C>G r.(?) p.(Ala51Gly) - likely benign g.47478976G>C g.47619577G>C SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly)) - SYN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.189G>T r.(?) p.(Pro63=) - likely benign g.47478939C>A g.47619540C>A SYN1(NM_006950.3):c.189G>T (p.P63=) - SYN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+?/. 1 1 c.236C>G r.(?) p.(Ser79Trp) - likely pathogenic g.47478892G>C g.47619493G>C NG_008437.1(SYN1_v001):c.236C>G - SYN1_000005 - - - - Germline - - - - - Fabrizia Claudia Guarnieri
-?/. 2 - c.364C>T r.(?) p.(Pro122Ser) - likely benign g.47478764G>A g.47619365G>A SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser)) - SYN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 2 - c.378-321G>A r.(=) p.(=) - VUS g.47466918C>T g.47607519C>T - - SYN1_000019 - - - - Germline - - - - - Yu Sun
?/. 2 - c.378-281A>G r.(=) p.(=) - VUS g.47466878T>C g.47607479T>C - - SYN1_000018 - - - - Germline - - - - - Yu Sun
-?/. 3 2 c.426A>G r.(?) p.(Lys142=), p.(=) - likely benign g.47466549T>C g.47607150T>C SYN1(NM_006950.3):c.426A>G (p.K142=), K142K - SYN1_000003 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Lucy Raymond
+/. 1 - c.435+2T>C r.spl? p.? - pathogenic g.47466538A>G g.47607139A>G - - SYN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.450T>G r.(?) p.(Asp150Glu) - likely benign g.47466421A>C g.47607022A>C SYN1(NM_006950.3):c.450T>G (p.D150E) - SYN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.472A>C r.(?) p.(Asn158His) - likely benign g.47466399T>G g.47607000T>G SYN1(NM_006950.3):c.472A>C (p.N158H) - SYN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/., -/., -?/. 4 3 c.510T>C r.(?) p.(=), p.(Asn170=) - VUS, benign, likely benign g.47466361A>G g.47606962A>G SYN1(NM_006950.3):c.510T>C (p.N170=), N170N - SYN1_000017, SYN1_000004 VKGL data sharing initiative Nederland, recurrent, found 68 times PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 68/208 cases - - - Yu Sun, VKGL-NL_Groningen, Lucy Raymond
?/., -?/. 5 - c.580C>T r.(?) p.(Arg194Cys) - VUS, likely benign g.47464726G>A g.47605327G>A SYN1(NM_006950.3):c.580C>T (p.R194C, p.(Arg194Cys)) - SYN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.581G>A r.(?) p.(Arg194His) - VUS g.47464725C>T g.47605326C>T SYN1(NM_006950.3):c.581G>A (p.R194H) - SYN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.599G>A r.(?) p.(Ser200Asn) - likely benign g.47464707C>T g.47605308C>T SYN1(NM_006950.3):c.599G>A (p.S200N) - SYN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.684+60T>C r.(=) p.(=) - likely benign g.47464562A>G g.47605163A>G SYN1(NM_006950.3):c.684+60T>C - SYN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.774+85del r.(=) p.(=) - VUS g.47464292del g.47604893del - - SYN1_000016 - - - - Germline - - - - - Yu Sun
?/. 2 - c.774+86del r.(=) p.(=) - VUS g.47464291del g.47604892del - - SYN1_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.775-9753C>T r.(=) p.(=) - VUS g.47446653G>A g.47587254G>A - - SYN1_000014 - - - - Germline - - - - - Yu Sun
?/. 2 - c.775-9619A>C r.(=) p.(=) - VUS g.47446519T>G g.47587120T>G - - SYN1_000013 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.775-9177G>A r.(=) p.(=) - likely benign g.47446077C>T g.47586678C>T TIMP1(NM_003254.2):c.611C>T (p.S204F) - SYN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./., -?/. 2 - c.775-9141C>T r.(=) p.(=) - VUS, likely benign g.47446041G>A g.47586642G>A TIMP1(NM_003254.2):c.575G>A (p.(Arg192Gln)) - SYN1_000050 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.775-9140G>A r.(=) p.(=) - VUS g.47446040C>T g.47586641C>T TIMP1(NM_003254.2):c.574C>T (p.(Arg192Trp)) - SYN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.775-9120C>T r.(=) p.(=) - likely benign g.47446020G>A g.47586621G>A TIMP1(NM_003254.2):c.554G>A (p.R185H) - SYN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.775-9078G>A r.(=) p.(=) - likely benign g.47445978C>T g.47586579C>T TIMP1(NM_003254.2):c.512C>T (p.(Thr171Met)) - SYN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.775-9050G>C r.(=) p.(=) - likely benign g.47445950C>G - TIMP1(NM_003254.2):c.484C>G (p.L162V) - SYN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.775-9040G>A r.(=) p.(=) - likely benign g.47445940C>T g.47586541C>T I158I - SYN1_000049 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.775-8397G>A r.(=) p.(=) - likely benign g.47445297C>T g.47585898C>T SYN1(NM_006950.3):c.775-8397G>A - SYN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.775-8386T>C r.(=) p.(=) - VUS g.47445286A>G g.47585887A>G - - TIMP1_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.775-8121G>C r.(=) p.(=) - likely benign g.47445021C>G g.47585622C>G SYN1(NM_006950.3):c.775-8121G>C - SYN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./., ?/. 3 - c.775-8085A>G r.(=) p.(=) - likely benign, VUS g.47444985T>C g.47585586T>C F124F - TIMP1_000002 recurrent, found 62 times PubMed: Tarpey 2009 - - Germline - 62/208 cases - - - Lucy Raymond, Yu Sun
-?/. 1 - c.775-8023C>T r.(=) p.(=) - likely benign g.47444923G>A g.47585524G>A SYN1(NM_006950.3):c.775-8023C>T - SYN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.775-7979C>G r.(=) p.(=) - VUS g.47444879G>C g.47585480G>C - - TIMP1_000001 - - - - Germline - - - - - Yu Sun
./. 1 - c.775-7763G>A r.(=) p.(=) - likely benign g.47444663C>T g.47585264C>T P87P - SYN1_000048 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.775-7508C>A r.(=) p.(=) - likely benign g.47444408G>T g.47585009G>T TIMP1(NM_003254.2):c.195G>T (p.M65I) - SYN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., -?/. 2 - c.775-7461G>A r.(=) p.(=) - VUS, likely benign g.47444361C>T g.47584962C>T SYN1(NM_006950.3):c.775-7461G>A (p.(=)), TIMP1(NM_003254.2):c.148C>T (p.P50S) - SYN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.775-6211C>T r.(=) p.(=) - VUS g.47443111G>A g.47583712G>A - - SYN1_000012, TIMP1_000004 - - - - Germline - - - - - Yu Sun
?/. 1 - c.794C>T r.(?) p.(Pro265Leu) - VUS g.47436881G>A g.47577482G>A - - SYN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.838-134G>A r.(=) p.(=) - likely benign g.47436173C>T g.47576774C>T SYN1(NM_006950.3):c.838-134G>A - SYN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.944G>A r.(?) p.(Arg315His) - likely benign g.47435933C>T g.47576534C>T SYN1(NM_006950.3):c.944G>A (p.R315H) - SYN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.980+14C>T r.(=) p.(=) - likely benign g.47435883G>A g.47576484G>A SYN1(NM_006950.3):c.980+14C>T - SYN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1055+12G>A r.(=) p.(=) - likely benign g.47435719C>T g.47576320C>T SYN1(NM_006950.3):c.1055+12G>A - SYN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1056-14_1056-8del r.(=) p.(=) - likely benign g.47435641_47435647del g.47576242_47576248del SYN1(NM_006950.3):c.1056-14_1056-8del (p.(=)) - SYN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1063C>T r.(?) p.(Leu355=) - likely benign g.47435625G>A - SYN1(NM_006950.3):c.1063C>T (p.L355=) - SYN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 4 9 c.1107C>T r.(?) p.(Ile369=), p.(=) - likely benign g.47435581G>A g.47576182G>A SYN1(NM_006950.3):c.1107C>T (p.I369=), I369I - SYN1_000001 VKGL data sharing initiative Nederland, found once, nonrecurrent change PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Utrecht, Lucy Raymond
+/. 1 - c.1264C>T r.(?) p.(Arg422Ter) - pathogenic g.47434568G>A g.47575169G>A SYN1(NM_006950.3):c.1264C>T (p.R422*) - SYN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1297C>T r.(?) p.(His433Tyr) - likely benign g.47434535G>A g.47575136G>A SYN1(NM_006950.3):c.1297C>T (p.H433Y) - SYN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1305+114C>T r.(=) p.(=) - likely benign g.47434413G>A g.47575014G>A SYN1(NM_006950.3):c.1305+114C>T - SYN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 11 c.1422C>T r.(?) p.(=) - likely benign g.47433961G>A g.47574562G>A P474P - SYN1_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1438C>T r.(?) p.(Pro480Ser) - likely benign g.47433945G>A g.47574546G>A - - SYN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1473_1475del r.(?) p.(Gln491del) - VUS g.47433913_47433915del - SYN1(NM_006950.3):c.1473_1475delGCA (p.Q491del) - SYN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1615G>A r.(?) p.(Gly539Ser) - likely benign g.47433768C>T g.47574369C>T SYN1(NM_006950.3):c.1615G>A (p.G539S) - SYN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.1629T>C r.(?) p.(Pro543=) - likely benign g.47433754A>G g.47574355A>G SYN1(NM_006950.3):c.1629T>C (p.P543=) - SYN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1660C>T r.(?) p.(Pro554Ser) - VUS g.47433723G>A g.47574324G>A SYN1(NM_006950.3):c.1660C>T (p.P554S) - SYN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/., -?/. 5 - c.1699A>G r.(?) p.(Thr567Ala) - benign, VUS, likely benign g.47433684T>C g.47574285T>C SYN1(NM_006950.3):c.1699A>G (p.T567A, p.(Thr567Ala)) - SYN1_000024 VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs200533370 CLASSIFICATION record, Germline - 9/2764 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq, VKGL-NL_Utrecht, VKGL-NL_Leiden, VKGL-NL_AMC
-?/. 1 - c.1748G>C r.(?) p.(Gly583Ala) - likely benign g.47433635C>G - SYN1(NM_006950.3):c.1748G>C (p.G583A) - SYN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1761C>T r.(?) p.(Arg587=) - likely benign g.47433622G>A g.47574223G>A SYN1(NM_006950.3):c.1761C>T (p.R587=) - SYN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1938A>C r.(?) p.(Pro646=) - likely benign g.47433445T>G g.47574046T>G SYN1(NM_006950.3):c.1938A>C (p.P646=) - SYN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1983-349T>C r.(=) p.(=) - VUS g.47432747A>G g.47573348A>G - - SYN1_000011 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1996C>T r.(?) p.(Leu666=) - likely benign g.47432385G>A g.47572986G>A SYN1(NM_006950.3):c.1996C>T (p.L666=) - SYN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.*48C>A r.(=) p.(=) - benign g.47432215G>T g.47572816G>T SYN1(NM_006950.3):c.*48C>A - SYN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*111C>T r.(=) p.(=) - likely benign g.47432152G>A g.47572753G>A SYN1(NM_006950.3):c.*111C>T - SYN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*1450T>G r.(=) p.(=) - likely benign g.47430813A>C g.47571414A>C ARAF(NM_001256196.1):c.1787A>C (p.E596A) - ARAF_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5490C>T r.(=) p.(=) - VUS g.47426773G>A g.47567374G>A ARAF(NM_001256196.1):c.1027G>A (p.(Val343Met)) - SYN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*5498A>G r.(=) p.(=) - VUS g.47426765T>C g.47567366T>C ARAF(NM_001256196.1):c.1019T>C (p.(Val340Ala)) - ARAF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5801A>C r.(=) p.(=) - likely benign g.47426462T>G g.47567063T>G ARAF(NM_001256196.1):c.814T>G (p.S272A) - ARAF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*5819C>T r.(=) p.(=) - likely benign g.47426444G>A g.47567045G>A ARAF(NM_001256196.1):c.796G>A (p.V266M) - SYN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*5821C>A r.(=) p.(=) - likely benign g.47426442G>T g.47567043G>T ARAF(NM_001256196.1):c.794G>T (p.(Ser265Ile)) - SYN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5883A>G r.(=) p.(=) - likely benign g.47426380T>C g.47566981T>C ARAF(NM_001256196.1):c.737-5T>C (p.?) - SYN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*5945G>T r.(=) p.(=) - likely benign g.47426318C>A g.47566919C>A ARAF(NM_001256196.1):c.736+8C>A (p.(=)) - SYN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*6159C>G r.(=) p.(=) - VUS g.47426104G>C g.47566705G>C ARAF(NM_001256196.1):c.633G>C (p.Q211H) - SYN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6168G>C r.(=) p.(=) - likely benign g.47426095C>G - ARAF(NM_001256196.1):c.624C>G (p.A208=) - SYN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7734T>C r.(=) p.(=) - likely benign g.47424529A>G g.47565130A>G ARAF(NM_001256196.1):c.449A>G (p.(Asn150Ser)) - SYN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*8070G>A r.(=) p.(=) - likely benign g.47424193C>T g.47564794C>T ARAF(NM_001256196.1):c.201-3C>T - ARAF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*9853G>A r.(=) p.(=) - VUS g.47422410C>T g.47563011C>T ARAF(NM_001256196.1):c.44C>T (p.S15F) - SYN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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