Unique variants in gene FREM2

Information The variants shown are described using the NM_207361.4 transcript reference sequence.

193 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
+?/. 1 1 c.15del - r.(15del) p.(Thr6Leufs*36) g.39261496del g.38687359del - - FREM2_000002 - - - - Germline - - - - - Qian Yu
-?/. 1 - c.84C>G likely benign r.(?) p.(=) g.39261565C>G - FREM2(NM_207361.5):c.84C>G (p.P28=) - FREM2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.109C>T likely benign r.(?) p.(Leu37Phe) g.39261590C>T - FREM2(NM_207361.4):c.109C>T (p.(Leu37Phe)) - FREM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.170C>G VUS r.(?) p.(Ser57Cys) g.39261651C>G - FREM2(NM_207361.4):c.170C>G (p.(Ser57Cys)) - FREM2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.176G>A likely benign r.(?) p.(Gly59Asp) g.39261657G>A - FREM2(NM_207361.4):c.176G>A (p.(Gly59Asp)) - FREM2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.245C>T VUS r.(?) p.(Pro82Leu) g.39261726C>T - FREM2(NM_207361.4):c.245C>T (p.(Pro82Leu)) - FREM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.296T>C likely benign r.(?) p.(Val99Ala) g.39261777T>C - FREM2(NM_207361.4):c.296T>C (p.(Val99Ala)) - FREM2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.305G>C VUS r.(?) p.(Gly102Ala) g.39261786G>C - FREM2(NM_207361.4):c.305G>C (p.(Gly102Ala)) - FREM2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.467G>T VUS r.(?) p.(Arg156Leu) g.39261948G>T - FREM2(NM_207361.5):c.467G>T (p.R156L) - FREM2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.532C>A VUS r.(?) p.(Gln178Lys) g.39262013C>A - FREM2(NM_207361.5):c.532C>A (p.Q178K) - FREM2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.532C>T VUS r.(?) p.(Gln178*) g.39262013C>T - FREM2(NM_207361.5):c.532C>T (p.Q178*) - FREM2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.576G>A benign r.(?) p.(=) g.39262057G>A - FREM2(NM_207361.5):c.576G>A (p.E192=) - FREM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.638C>T likely benign r.(?) p.(Thr213Ile) g.39262119C>T - FREM2(NM_207361.4):c.638C>T (p.(Thr213Ile)) - FREM2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.704A>G likely benign r.(?) p.(His235Arg) g.39262185A>G - FREM2(NM_207361.5):c.704A>G (p.H235R) - FREM2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1122T>A likely benign r.(?) p.(Asp374Glu) g.39262603T>A - FREM2(NM_207361.4):c.1122T>A (p.(Asp374Glu)) - FREM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1188G>C likely benign r.(?) p.(Gln396His) g.39262669G>C - FREM2(NM_207361.4):c.1188G>C (p.(Gln396His)) - FREM2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1472A>G VUS r.(?) p.(His491Arg) g.39262953A>G - FREM2(NM_207361.5):c.1472A>G (p.H491R) - FREM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1505C>T VUS r.(?) p.(Ser502Phe) g.39262986C>T - FREM2(NM_207361.5):c.1505C>T (p.S502F) - FREM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1518C>T benign r.(?) p.(=) g.39262999C>T - FREM2(NM_207361.5):c.1518C>T (p.S506=) - FREM2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1542C>T benign r.(?) p.(=) g.39263023C>T - FREM2(NM_207361.5):c.1542C>T (p.A514=) - FREM2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1605C>T VUS r.(?) p.(=) g.39263086C>T - FREM2(NM_207361.5):c.1605C>T (p.R535=) - FREM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1677G>C likely benign r.(?) p.(Gln559His) g.39263158G>C - FREM2(NM_207361.4):c.1677G>C (p.(Gln559His)) - FREM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1913G>A likely benign r.(?) p.(Arg638Gln) g.39263394G>A - FREM2(NM_207361.4):c.1913G>A (p.(Arg638Gln)) - FREM2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1941C>T benign r.(?) p.(=) g.39263422C>T - FREM2(NM_207361.5):c.1941C>T (p.D647=) - FREM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1959G>T benign r.(?) p.(=) g.39263440G>T - FREM2(NM_207361.5):c.1959G>T (p.L653=) - FREM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2053G>A VUS r.(?) p.(Gly685Arg) g.39263534G>A - FREM2(NM_207361.4):c.2053G>A (p.(Gly685Arg)) - FREM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2102C>T VUS r.(?) p.(Pro701Leu) g.39263583C>T - FREM2(NM_207361.4):c.2102C>T (p.(Pro701Leu)) - FREM2_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2111G>A likely benign r.(?) p.(Gly704Asp) g.39263592G>A - FREM2(NM_207361.4):c.2111G>A (p.(Gly704Asp)) - FREM2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., ?/., -/. 3 - c.2128C>T likely benign, VUS, benign r.(?) p.(Arg710Cys) g.39263609C>T - FREM2(NM_207361.5):c.2128C>T (p.R710C) - FREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., -/. 2 - c.2165G>A likely benign, benign r.(?) p.(Arg722Lys) g.39263646G>A - FREM2(NM_207361.5):c.2165G>A (p.R722K) - FREM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.2179C>T VUS r.(?) p.(Arg727Cys) g.39263660C>T - FREM2(NM_207361.5):c.2179C>T (p.R727C) - FREM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.2206C>T pathogenic r.(?) p.(Arg736*) g.39263687C>T - FREM2(NM_207361.5):c.2206C>T (p.R736*) - FREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 2 - c.2233T>C benign r.(?) p.(Ser745Pro) g.39263714T>C - FREM2(NM_207361.5):c.2233T>C (p.S745P) - FREM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.2233T>G VUS r.(?) p.(Ser745Ala) g.39263714T>G - FREM2(NM_207361.5):c.2233T>G (p.S745A) - FREM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.2250C>T benign r.(?) p.(=) g.39263731C>T - FREM2(NM_207361.5):c.2250C>T (p.D750=) - FREM2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., -/. 2 - c.2308G>A likely benign, benign r.(?) p.(Val770Met) g.39263789G>A - FREM2(NM_207361.5):c.2308G>A (p.V770M) - FREM2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.2504C>A VUS r.(?) p.(Thr835Asn) g.39263985C>A - FREM2(NM_207361.5):c.2504C>A (p.T835N) - FREM2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2600C>T likely benign r.(?) p.(Thr867Ile) g.39264081C>T - FREM2(NM_207361.4):c.2600C>T (p.(Thr867Ile)) - FREM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.2602C>G likely benign, benign r.(?) p.(Leu868Val) g.39264083C>G - FREM2(NM_207361.5):c.2602C>G (p.L868V) - FREM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.2646G>T likely benign r.(?) p.(Gln882His) g.39264127G>T - FREM2(NM_207361.4):c.2646G>T (p.(Gln882His)) - FREM2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.2695C>T pathogenic r.(?) p.(Arg899*) g.39264176C>T - FREM2(NM_207361.5):c.2695C>T (p.R899*) - FREM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2978A>G likely benign r.(?) p.(Glu993Gly) g.39264459A>G - FREM2(NM_207361.4):c.2978A>G (p.(Glu993Gly)) - FREM2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2987T>A VUS r.(?) p.(Val996Asp) g.39264468T>A - FREM2(NM_207361.5):c.2987T>A (p.Val996Asp) - FREM2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3116T>A likely benign r.(?) p.(Met1039Lys) g.39264597T>A - FREM2(NM_207361.4):c.3116T>A (p.(Met1039Lys)) - FREM2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3158T>G VUS r.(?) p.(Val1053Gly) g.39264639T>G - FREM2(NM_207361.5):c.3158T>G (p.Val1053Gly) - FREM2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3209T>C benign r.(?) p.(Phe1070Ser) g.39264690T>C - FREM2(NM_207361.5):c.3209T>C (p.F1070S) - FREM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3266A>T likely benign r.(?) p.(His1089Leu) g.39264747A>T - FREM2(NM_207361.4):c.3266A>T (p.(His1089Leu)) - FREM2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3271A>G likely benign r.(?) p.(Ser1091Gly) g.39264752A>G - FREM2(NM_207361.5):c.3271A>G (p.S1091G) - FREM2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3677C>G likely benign r.(?) p.(Thr1226Ser) g.39265158C>G - FREM2(NM_207361.5):c.3677C>G (p.T1226S) - FREM2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3929A>G VUS r.(?) p.(Asn1310Ser) g.39265410A>G - FREM2(NM_207361.4):c.3929A>G (p.(Asn1310Ser)) - FREM2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.3931G>T pathogenic r.(?) p.(Gly1311*) g.39265412G>T - FREM2(NM_207361.5):c.3931G>T (p.G1311*) - FREM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4031G>A likely benign r.(?) p.(Arg1344His) g.39265512G>A - FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)) - FREM2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4077T>A benign r.(?) p.(=) g.39265558T>A - FREM2(NM_207361.5):c.4077T>A (p.G1359=) - FREM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4319C>A VUS r.(?) p.(Thr1440Lys) g.39265800C>A - FREM2(NM_207361.4):c.4319C>A (p.(Thr1440Lys)) - FREM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4343A>G VUS r.(?) p.(Asp1448Gly) g.39265824A>G - FREM2(NM_207361.4):c.4343A>G (p.(Asp1448Gly)) - FREM2_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.4396C>T pathogenic r.(?) p.(Arg1466*) g.39265877C>T - FREM2(NM_207361.5):c.4396C>T (p.R1466*) - FREM2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.4432T>C VUS r.(?) p.(Ser1478Pro) g.39265913T>C - FREM2(NM_207361.4):c.4432T>C (p.(Ser1478Pro)) - FREM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.4654A>C likely pathogenic r.(?) p.(Thr1552Pro) g.39266135A>C - FREM2(NM_207361.5):c.4654A>C (p.T1552P) - FREM2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4726C>G likely benign r.(?) p.(Pro1576Ala) g.39266207C>G - FREM2(NM_207361.4):c.4726C>G (p.(Pro1576Ala)) - FREM2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4730T>C likely benign r.(?) p.(Ile1577Thr) g.39266211T>C - FREM2(NM_207361.4):c.4730T>C (p.(Ile1577Thr)) - FREM2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.4849T>C likely pathogenic r.(?) p.(Ser1617Pro) g.39266330T>C - FREM2(NM_207361.5):c.4849T>C (p.S1617P) - FREM2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.4901C>T benign r.(?) p.(Thr1634Met) g.39266382C>T - FREM2(NM_207361.5):c.4901C>T (p.T1634M) - FREM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.4991C>T likely benign r.(?) p.(Ala1664Val) g.39266472C>T - FREM2(NM_207361.4):c.4991C>T (p.(Ala1664Val)) - FREM2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5003G>A benign r.(?) p.(Arg1668His) g.39266484G>A - FREM2(NM_207361.5):c.5003G>A (p.R1668H) - FREM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5059G>T VUS r.(?) p.(Glu1687*) g.39266540G>T - FREM2(NM_207361.4):c.5059G>T (p.?) - FREM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5060A>C VUS r.(?) p.(Glu1687Ala) g.39266541A>C - FREM2(NM_207361.4):c.5060A>C (p.(Glu1687Ala)) - FREM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5109C>T likely benign r.(?) p.(=) g.39266590C>T - FREM2(NM_207361.5):c.5109C>T (p.A1703=) - FREM2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5119G>A VUS r.(?) p.(Gly1707Arg) g.39266600G>A - FREM2(NM_207361.5):c.5119G>A (p.G1707R) - FREM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 2 - c.5138A>G likely benign, benign r.(?) p.(Asp1713Gly) g.39266619A>G - FREM2(NM_207361.5):c.5138A>G (p.D1713G) - FREM2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.5143G>A VUS r.(?) p.(Gly1715Ser) g.39266624G>A - FREM2(NM_207361.5):c.5143G>A (p.G1715S) - FREM2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5162A>C VUS r.(?) p.(Gln1721Pro) g.39266643A>C - FREM2(NM_207361.5):c.5162A>C (p.Q1721P) - FREM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5166C>A VUS r.(?) p.(Phe1722Leu) g.39266647C>A - FREM2(NM_207361.5):c.5166C>A (p.F1722L) - FREM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5173+1G>T VUS r.spl? p.? g.39266655G>T - FREM2(NM_207361.5):c.5173+1G>T - FREM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5173+75A>T benign r.(=) p.(=) g.39266729A>T - FREM2(NM_207361.5):c.5173+75A>T - FREM2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5173+208T>C benign r.(=) p.(=) g.39266862T>C - FREM2(NM_207361.5):c.5173+208T>C - FREM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5183A>C VUS r.(?) p.(Asp1728Ala) g.39271844A>C - FREM2(NM_207361.4):c.5183A>C (p.(Asp1728Ala)) - FREM2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.5263+2T>C pathogenic r.spl? p.? g.39271926T>C - FREM2(NM_207361.5):c.5263+2T>C - FREM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5263+154C>G benign r.(=) p.(=) g.39272078C>G - FREM2(NM_207361.5):c.5263+154C>G - FREM2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5264-5T>G VUS r.spl? p.? g.39338436T>G - FREM2(NM_207361.5):c.5264-5T>G - FREM2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5280G>A likely benign r.(?) p.(=) g.39338457G>A - FREM2(NM_207361.5):c.5280G>A (p.T1760=) - FREM2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5286G>T VUS r.(?) p.(Gln1762His) g.39338463G>T - FREM2(NM_207361.4):c.5286G>T (p.(Gln1762His)) - FREM2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5410+25T>C benign r.(=) p.(=) g.39338612T>C - FREM2(NM_207361.5):c.5410+25T>C - FREM2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 3 - c.5417G>A VUS, likely benign r.(?) p.(Gly1806Asp) g.39343721G>A - FREM2(NM_207361.5):c.5417G>A (p.G1806D) - FREM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.5434G>A VUS r.(?) p.(Ala1812Thr) g.39343738G>A - FREM2(NM_207361.4):c.5434G>A (p.(Ala1812Thr)) - FREM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.5484C>G VUS r.(?) p.(Phe1828Leu) g.39343788C>G - FREM2(NM_207361.5):c.5484C>G (p.F1828L) - FREM2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5518C>T benign r.(?) p.(Arg1840Trp) g.39343822C>T - FREM2(NM_207361.5):c.5518C>T (p.R1840W) - FREM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5533G>A likely benign r.(?) p.(Gly1845Arg) g.39343837G>A - FREM2(NM_207361.4):c.5533G>A (p.(Gly1845Arg)) - FREM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5642-19A>G benign r.(=) p.(=) g.39357188A>G - FREM2(NM_207361.5):c.5642-19A>G - FREM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5642-9T>C benign r.(=) p.(=) g.39357198T>C - FREM2(NM_207361.5):c.5642-9T>C - FREM2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.5752dup pathogenic r.(?) p.(Cys1918Leufs*21) g.39357317dup - FREM2(NM_207361.5):c.5752dupT (p.C1918Lfs*21) - FREM2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.5767+8G>A likely benign r.(=) p.(=) g.39357340G>A - FREM2(NM_207361.4):c.5767+8G>A (p.(=)) - FREM2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.5767+97A>C benign r.(=) p.(=) g.39357429A>C - FREM2(NM_207361.5):c.5767+97A>C - FREM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.5914G>A pathogenic r.(?) p.(Glu1972Lys) g.39358840G>A - FREM2(NM_207361.5):c.5914G>A (p.E1972K) - FREM2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.5917G>T pathogenic r.(?) p.(Glu1973*) g.39358843G>T - FREM2(NM_207361.5):c.5917G>T (p.E1973*) - FREM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.5937_5940delinsC - r.(?) p.(Leu1981del) g.39358863_39358866delCCTTinsC g.38784726_38784729delinsC - - FREM2_000001 in-frame deletion PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.6019+22356C>A benign r.(=) p.(=) g.39381301C>A - FREM2(NM_207361.5):c.6019+22356C>A - FREM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.6020-149A>G benign r.(=) p.(=) g.39420561A>G - FREM2(NM_207361.5):c.6020-149A>G - FREM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.6020-111G>A benign r.(=) p.(=) g.39420599G>A - FREM2(NM_207361.5):c.6020-111G>A - FREM2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.6020-47T>C benign r.(=) p.(=) g.39420663T>C - FREM2(NM_207361.5):c.6020-47T>C - FREM2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.6067G>A VUS r.(?) p.(Ala2023Thr) g.39420757G>A - FREM2(NM_207361.4):c.6067G>A (p.(Ala2023Thr)) - FREM2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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