Full data view for gene FREM2

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

303 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 1 c.15del r.(15del) p.(Thr6Leufs*36) Maternal (confirmed) - likely pathogenic g.39261496del g.38687359del - - FREM2_000002 - - - - Germline - - - - - DNA SEQ-NG - - CRYPTOP - - - F - China - - - - - 2 Qian Yu
-?/. - c.38G>A r.(?) p.(Arg13Gln) Unknown - likely benign g.39261519G>A - FREM2(NM_207361.5):c.38G>A (p.R13Q) - FREM2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84C>G r.(?) p.(Pro28=) Unknown - likely benign g.39261565C>G g.38687428C>G FREM2(NM_207361.5):c.84C>G (p.P28=), FREM2(NM_207361.6):c.84C>G (p.P28=) - FREM2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84C>G r.(?) p.(Pro28=) Unknown - likely benign g.39261565C>G - FREM2(NM_207361.5):c.84C>G (p.P28=), FREM2(NM_207361.6):c.84C>G (p.P28=) - FREM2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105_107dup r.(?) p.(Leu38dup) Unknown - likely benign g.39261586_39261588dup - FREM2(NM_207361.6):c.105_107dupGCT (p.L38dup) - FREM2_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109C>T r.(?) p.(Leu37Phe) Unknown - VUS g.39261590C>T - FREM2(NM_207361.5):c.109C>T (p.L37F), FREM2(NM_207361.6):c.109C>T (p.L37F) - FREM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109C>T r.(?) p.(Leu37Phe) Unknown - likely benign g.39261590C>T - FREM2(NM_207361.5):c.109C>T (p.L37F), FREM2(NM_207361.6):c.109C>T (p.L37F) - FREM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172C>T r.(?) p.(Pro58Ser) Unknown - VUS g.39261653C>T - FREM2(NM_207361.4):c.172C>T (p.(Pro58Ser)) - FREM2_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176G>A r.(?) p.(Gly59Asp) Unknown - likely benign g.39261657G>A g.38687520G>A FREM2(NM_207361.4):c.176G>A (p.(Gly59Asp)) - FREM2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.182C>A r.(?) p.(Ala61Glu) Unknown - VUS g.39261663C>A g.38687526C>A FREM2(NM_207361.4):c.182C>A (p.(Ala61Glu)) - FREM2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245C>T r.(?) p.(Pro82Leu) Unknown - VUS g.39261726C>T g.38687589C>T FREM2(NM_207361.4):c.245C>T (p.(Pro82Leu)) - FREM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.296T>C r.(?) p.(Val99Ala) Unknown - likely benign g.39261777T>C g.38687640T>C FREM2(NM_207361.4):c.296T>C (p.(Val99Ala)) - FREM2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.305G>C r.(?) p.(Gly102Ala) Unknown - VUS g.39261786G>C g.38687649G>C FREM2(NM_207361.4):c.305G>C (p.(Gly102Ala)) - FREM2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335A>G r.(?) p.(Asn112Ser) Unknown - likely benign g.39261816A>G - FREM2(NM_207361.6):c.335A>G (p.N112S) - FREM2_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.467G>T r.(?) p.(Arg156Leu) Unknown - VUS g.39261948G>T g.38687811G>T FREM2(NM_207361.5):c.467G>T (p.R156L) - FREM2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477G>T r.(?) p.(Ala159=) Unknown - likely benign g.39261958G>T - FREM2(NM_207361.5):c.477G>T (p.A159=) - FREM2_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532C>A r.(?) p.(Gln178Lys) Unknown - VUS g.39262013C>A g.38687876C>A FREM2(NM_207361.5):c.532C>A (p.Q178K) - FREM2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.532C>T r.(?) p.(Gln178Ter) Unknown - VUS g.39262013C>T g.38687876C>T FREM2(NM_207361.6):c.532C>T (p.Q178*) - FREM2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560C>T r.(?) p.(Pro187Leu) Unknown - VUS g.39262041C>T - FREM2(NM_207361.5):c.560C>T (p.P187L), FREM2(NM_207361.6):c.560C>T (p.(Pro187Leu)) - FREM2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560C>T r.(?) p.(Pro187Leu) Unknown - VUS g.39262041C>T - FREM2(NM_207361.5):c.560C>T (p.P187L), FREM2(NM_207361.6):c.560C>T (p.(Pro187Leu)) - FREM2_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576G>A r.(?) p.(Glu192=) Unknown - benign g.39262057G>A g.38687920G>A FREM2(NM_207361.6):c.576G>A (p.E192=) - FREM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.576G>A r.(?) p.(Glu192=) Unknown - benign g.39262057G>A g.38687920G>A FREM2(NM_207361.6):c.576G>A (p.E192=) - FREM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607C>G r.(?) p.(Arg203Gly) Unknown - VUS g.39262088C>G - FREM2(NM_207361.6):c.607C>G (p.(Arg203Gly)) - FREM2_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.638C>T r.(?) p.(Thr213Ile) Unknown - likely benign g.39262119C>T g.38687982C>T FREM2(NM_207361.4):c.638C>T (p.(Thr213Ile)) - FREM2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.690T>C r.(?) p.(Tyr230=) Unknown - likely benign g.39262171T>C - FREM2(NM_207361.6):c.690T>C (p.Y230=) - FREM2_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.704A>G r.(?) p.(His235Arg) Unknown - likely benign g.39262185A>G g.38688048A>G FREM2(NM_207361.5):c.704A>G (p.H235R) - FREM2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188G>C r.(?) p.(Gln396His) Unknown - likely benign g.39262669G>C g.38688532G>C FREM2(NM_207361.4):c.1188G>C (p.(Gln396His)), FREM2(NM_207361.6):c.1188G>C (p.Q396H) - FREM2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188G>C r.(?) p.(Gln396His) Unknown - likely benign g.39262669G>C - FREM2(NM_207361.4):c.1188G>C (p.(Gln396His)), FREM2(NM_207361.6):c.1188G>C (p.Q396H) - FREM2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250T>C r.(?) p.(Leu417Pro) Unknown - likely benign g.39262731T>C - FREM2(NM_207361.5):c.1250T>C (p.L417P), FREM2(NM_207361.6):c.1250T>C (p.L417P) - FREM2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250T>C r.(?) p.(Leu417Pro) Unknown - likely benign g.39262731T>C - FREM2(NM_207361.5):c.1250T>C (p.L417P), FREM2(NM_207361.6):c.1250T>C (p.L417P) - FREM2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1288G>A r.(?) p.(Val430Met) Unknown - likely benign g.39262769G>A - FREM2(NM_207361.6):c.1288G>A (p.V430M) - FREM2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345C>G r.(?) p.(Leu449Val) Unknown - VUS g.39262826C>G - FREM2(NM_207361.4):c.1345C>G (p.(Leu449Val)), FREM2(NM_207361.5):c.1345C>G (p.L449V) - FREM2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345C>G r.(?) p.(Leu449Val) Unknown - likely benign g.39262826C>G - FREM2(NM_207361.4):c.1345C>G (p.(Leu449Val)), FREM2(NM_207361.5):c.1345C>G (p.L449V) - FREM2_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - VUS g.39262845G>A - FREM2(NM_207361.5):c.1364G>A (p.R455Q) - FREM2_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472A>G r.(?) p.(His491Arg) Unknown - VUS g.39262953A>G g.38688816A>G FREM2(NM_207361.6):c.1472A>G (p.H491R) - FREM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1505C>T r.(?) p.(Ser502Phe) Unknown - VUS g.39262986C>T - FREM2(NM_207361.6):c.1505C>T (p.S502F) - FREM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1518C>T r.(?) p.(Ser506=) Unknown - benign g.39262999C>T g.38688862C>T FREM2(NM_207361.6):c.1518C>T (p.S506=) - FREM2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1542C>T r.(?) p.(Ala514=) Unknown - benign g.39263023C>T g.38688886C>T FREM2(NM_207361.6):c.1542C>T (p.A514=) - FREM2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580C>T r.(?) p.(Ser527Leu) Unknown - VUS g.39263061C>T g.38688924C>T FREM2(NM_207361.5):c.1580C>T (p.S527L) - FREM2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1603C>T r.(?) p.(Arg535Cys) Parent #1 - VUS g.39263084C>T g.38688947C>T - - FREM2_000206 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201457616 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.1605C>T r.(?) p.(Arg535=) Unknown - VUS g.39263086C>T g.38688949C>T FREM2(NM_207361.5):c.1605C>T (p.R535=) - FREM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1677G>C r.(?) p.(Gln559His) Unknown - VUS g.39263158G>C g.38689021G>C FREM2(NM_207361.4):c.1677G>C (p.(Gln559His)) - FREM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1941C>T r.(?) p.(Asp647=) Unknown - benign g.39263422C>T g.38689285C>T FREM2(NM_207361.6):c.1941C>T (p.D647=) - FREM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1959G>T r.(?) p.(Leu653=) Unknown - benign g.39263440G>T g.38689303G>T FREM2(NM_207361.6):c.1959G>T (p.L653=) - FREM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2053G>A r.(?) p.(Gly685Arg) Unknown - VUS g.39263534G>A g.38689397G>A FREM2(NM_207361.4):c.2053G>A (p.(Gly685Arg)) - FREM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2128C>T r.(?) p.(Arg710Cys) Unknown - benign g.39263609C>T g.38689472C>T FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C) - FREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2128C>T r.(?) p.(Arg710Cys) Unknown - likely benign g.39263609C>T g.38689472C>T FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C) - FREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2128C>T r.(?) p.(Arg710Cys) Unknown - VUS g.39263609C>T g.38689472C>T FREM2(NM_207361.4):c.2128C>T (p.(Arg710Cys)), FREM2(NM_207361.5):c.2128C>T (p.R710C), FREM2(NM_207361.6):c.2128C>T (p.R710C) - FREM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2149C>T r.(?) p.(Gln717*) Unknown - pathogenic g.39263630C>T - FREM2(NM_207361.6):c.2149C>T (p.Q717*) - FREM2_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2165G>A r.(?) p.(Arg722Lys) Unknown - benign g.39263646G>A g.38689509G>A FREM2(NM_207361.6):c.2165G>A (p.R722K) - FREM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2179C>T r.(?) p.(Arg727Cys) Unknown - VUS g.39263660C>T g.38689523C>T FREM2(NM_207361.5):c.2179C>T (p.R727C) - FREM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2206C>T r.(?) p.(Arg736Ter) Unknown - pathogenic g.39263687C>T g.38689550C>T FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*) - FREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2206C>T r.(?) p.(Arg736Ter) Unknown - pathogenic g.39263687C>T g.38689550C>T FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*) - FREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2206C>T r.(?) p.(Arg736Ter) Unknown - pathogenic g.39263687C>T - FREM2(NM_207361.5):c.2206C>T (p.R736*), FREM2(NM_207361.6):c.2206C>T (p.(Arg736*), p.R736*) - FREM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2233T>C r.(?) p.(Ser745Pro) Unknown - benign g.39263714T>C g.38689577T>C FREM2(NM_207361.6):c.2233T>C (p.S745P) - FREM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2233T>C r.(?) p.(Ser745Pro) Unknown - benign g.39263714T>C g.38689577T>C FREM2(NM_207361.6):c.2233T>C (p.S745P) - FREM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2233T>G r.(?) p.(Ser745Ala) Unknown - VUS g.39263714T>G g.38689577T>G FREM2(NM_207361.6):c.2233T>G (p.S745A) - FREM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2250C>T r.(?) p.(Asp750=) Unknown - benign g.39263731C>T g.38689594C>T FREM2(NM_207361.6):c.2250C>T (p.D750=) - FREM2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2250C>T r.(?) p.(Asp750=) Unknown - benign g.39263731C>T g.38689594C>T FREM2(NM_207361.6):c.2250C>T (p.D750=) - FREM2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2308G>A r.(?) p.(Val770Met) Unknown - likely benign g.39263789G>A g.38689652G>A FREM2(NM_207361.4):c.2308G>A (p.(Val770Met)), FREM2(NM_207361.6):c.2308G>A (p.V770M) - FREM2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2308G>A r.(?) p.(Val770Met) Unknown - benign g.39263789G>A g.38689652G>A FREM2(NM_207361.4):c.2308G>A (p.(Val770Met)), FREM2(NM_207361.6):c.2308G>A (p.V770M) - FREM2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2426G>A r.(?) p.(Arg809Gln) Unknown - VUS g.39263907G>A - FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q) - FREM2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2426G>A r.(?) p.(Arg809Gln) Unknown - likely benign g.39263907G>A - FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q) - FREM2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2426G>A r.(?) p.(Arg809Gln) Unknown - likely benign g.39263907G>A - FREM2(NM_207361.4):c.2426G>A (p.(Arg809Gln)), FREM2(NM_207361.5):c.2426G>A (p.R809Q), FREM2(NM_207361.6):c.2426G>A (p.R809Q) - FREM2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2432G>A r.(?) p.(Gly811Glu) Unknown - VUS g.39263913G>A g.38689776G>A FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E) - FREM2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2432G>A r.(?) p.(Gly811Glu) Unknown - VUS g.39263913G>A - FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E) - FREM2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2432G>A r.(?) p.(Gly811Glu) Unknown - VUS g.39263913G>A - FREM2(NM_207361.4):c.2432G>A (p.(Gly811Glu)), FREM2(NM_207361.5):c.2432G>A (p.G811E), FREM2(NM_207361.6):c.2432G>A (p.G811E) - FREM2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2472C>T r.(?) p.(Pro824=) Unknown - likely benign g.39263953C>T - FREM2(NM_207361.5):c.2472C>T (p.P824=), FREM2(NM_207361.6):c.2472C>T (p.P824=) - FREM2_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2472C>T r.(?) p.(Pro824=) Unknown - likely benign g.39263953C>T - FREM2(NM_207361.5):c.2472C>T (p.P824=), FREM2(NM_207361.6):c.2472C>T (p.P824=) - FREM2_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2473G>A r.(?) p.(Val825Met) Unknown - VUS g.39263954G>A - FREM2(NM_207361.5):c.2473G>A (p.V825M) - FREM2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2504C>A r.(?) p.(Thr835Asn) Unknown - VUS g.39263985C>A g.38689848C>A FREM2(NM_207361.5):c.2504C>A (p.T835N) - FREM2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2505C>T r.(?) p.(Thr835=) Unknown - likely benign g.39263986C>T - FREM2(NM_207361.5):c.2505C>T (p.T835=) - FREM2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2602C>G r.(?) p.(Leu868Val) Unknown - benign g.39264083C>G g.38689946C>G FREM2(NM_207361.6):c.2602C>G (p.L868V) - FREM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2646G>T r.(?) p.(Gln882His) Unknown - likely benign g.39264127G>T g.38689990G>T FREM2(NM_207361.4):c.2646G>T (p.(Gln882His)) - FREM2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2695C>T r.(?) p.(Arg899Ter) Unknown - pathogenic g.39264176C>T g.38690039C>T FREM2(NM_207361.6):c.2695C>T (p.R899*) - FREM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2900A>G r.(?) p.(Asn967Ser) Unknown - VUS g.39264381A>G - FREM2(NM_207361.5):c.2900A>G (p.N967S) - FREM2_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2978A>G r.(?) p.(Glu993Gly) Unknown - likely benign g.39264459A>G g.38690322A>G FREM2(NM_207361.4):c.2978A>G (p.(Glu993Gly)), FREM2(NM_207361.6):c.2978A>G (p.E993G) - FREM2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2978A>G r.(?) p.(Glu993Gly) Unknown - likely benign g.39264459A>G - FREM2(NM_207361.4):c.2978A>G (p.(Glu993Gly)), FREM2(NM_207361.6):c.2978A>G (p.E993G) - FREM2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2987T>A r.(?) p.(Val996Asp) Unknown - VUS g.39264468T>A g.38690331T>A - - FREM2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3158T>G r.(?) p.(Val1053Gly) Unknown - VUS g.39264639T>G g.38690502T>G - - FREM2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3164T>A r.(?) p.(Ile1055Lys) Unknown - VUS g.39264645T>A - FREM2(NM_207361.5):c.3164T>A (p.I1055K) - FREM2_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3209T>C r.(?) p.(Phe1070Ser) Unknown - benign g.39264690T>C g.38690553T>C FREM2(NM_207361.6):c.3209T>C (p.F1070S) - FREM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3266A>T r.(?) p.(His1089Leu) Unknown - likely benign g.39264747A>T g.38690610A>T FREM2(NM_207361.4):c.3266A>T (p.(His1089Leu)) - FREM2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3271A>G r.(?) p.(Ser1091Gly) Unknown - likely benign g.39264752A>G g.38690615A>G FREM2(NM_207361.6):c.3271A>G (p.S1091G) - FREM2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3403G>A r.(?) p.(Ala1135Thr) Unknown - VUS g.39264884G>A - FREM2(NM_207361.5):c.3403G>A (p.A1135T) - FREM2_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3677C>G r.(?) p.(Thr1226Ser) Unknown - likely benign g.39265158C>G g.38691021C>G FREM2(NM_207361.5):c.3677C>G (p.T1226S) - FREM2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3753C>T r.(?) p.(Ser1251=) Unknown - likely benign g.39265234C>T - FREM2(NM_207361.6):c.3753C>T (p.S1251=) - FREM2_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3929A>G r.(?) p.(Asn1310Ser) Unknown - VUS g.39265410A>G g.38691273A>G FREM2(NM_207361.4):c.3929A>G (p.(Asn1310Ser)) - FREM2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3931G>T r.(?) p.(Gly1311Ter) Unknown - pathogenic g.39265412G>T g.38691275G>T FREM2(NM_207361.6):c.3931G>T (p.G1311*) - FREM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3968A>G r.(?) p.(Asn1323Ser) Unknown - likely benign g.39265449A>G - FREM2(NM_207361.5):c.3968A>G (p.N1323S) - FREM2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3979T>A r.(?) p.(Leu1327Ile) Parent #1 - VUS g.39265460T>A g.38691323T>A - - FREM2_000207 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116653247 Germline - 1/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.3979T>A r.(?) p.(Leu1327Ile) Unknown - likely benign g.39265460T>A - FREM2(NM_207361.6):c.3979T>A (p.L1327I) - FREM2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3986C>G r.(?) p.(Ala1329Gly) Unknown - VUS g.39265467C>G - FREM2(NM_207361.5):c.3986C>G (p.A1329G) - FREM2_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4031G>A r.(?) p.(Arg1344His) Unknown - likely benign g.39265512G>A g.38691375G>A FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H) - FREM2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4031G>A r.(?) p.(Arg1344His) Parent #1 - VUS g.39265512G>A g.38691375G>A - - FREM2_000159 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143044921 Germline - 24/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 24 Mohammed Faruq
-?/. - c.4031G>A r.(?) p.(Arg1344His) Unknown - likely benign g.39265512G>A - FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H) - FREM2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4031G>A r.(?) p.(Arg1344His) Unknown - likely benign g.39265512G>A - FREM2(NM_207361.4):c.4031G>A (p.(Arg1344His)), FREM2(NM_207361.5):c.4031G>A (p.R1344H), FREM2(NM_207361.6):c.4031G>A (p.R1344H) - FREM2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4077T>A r.(?) p.(Gly1359=) Unknown - benign g.39265558T>A g.38691421T>A FREM2(NM_207361.6):c.4077T>A (p.G1359=) - FREM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4171C>T r.(?) p.(Arg1391Trp) Unknown - likely benign g.39265652C>T - FREM2(NM_207361.6):c.4171C>T (p.(Arg1391Trp)) - FREM2_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4226A>C r.(?) p.(Tyr1409Ser) Unknown - VUS g.39265707A>C - FREM2(NM_207361.6):c.4226A>C (p.(Tyr1409Ser)) - FREM2_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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