Unique variants in the HNRNPH2 gene

Information The variants shown are described using the NM_019597.4 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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     
?/. 1 - c.-17832dup r.(?) p.(=) - VUS g.100645529dup - BTK(NM_001287344.1):c.10dupT (p.W4Lfs*25) - BTK_000974 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-17391C>T r.(?) p.(=) - likely benign g.100645970C>T - RPL36A(NM_001199972.1):c.47C>T (p.(Ser16Phe)) - BTK_000975 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-12634C>A r.(?) p.(=) - likely benign g.100650727C>A g.101395739C>A RPL36A(NM_021029.5):c.420C>A (p.I140=) - BTK_000969 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.-10557_-10554del r.(?) p.(=) - pathogenic g.100652804_100652807del g.101397816_101397819del GLA(NM_000169.2):c.1284_1287delACTT (p.L428Ffs*?) - GLA_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-10544A>C r.(?) p.(=) - likely benign g.100652817A>C - GLA(NM_000169.2):c.1270T>G (p.S424A) - HNRNPH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-10536A>G r.(?) p.(=) - VUS g.100652825A>G - GLA(NM_000169.2):c.1262T>C (p.M421T) - HNRNPH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-10520G>A r.(?) p.(=) - VUS g.100652841G>A g.101397853G>A GLA(NM_000169.2):c.1246C>T (p.Q416*) - GLA_000673 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-10470C>G r.(?) p.(=) - VUS g.100652891C>G g.101397903C>G GLA(NM_000169.2):c.1196G>C (p.(Trp399Ser)) - GLA_000674 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., ?/. 3 - c.-10439G>C r.(?) p.(=) - pathogenic, VUS g.100652922G>C g.101397934G>C GLA(NM_000169.2):c.1165C>G (p.P389A) - HNRNPH2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 4 - c.-10427T>C r.(?) p.(=) - likely benign g.100652934T>C g.101397946T>C 1 more item - GLA_000675 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+?/. 1 - c.-10392C>T r.(?) p.(=) - likely pathogenic g.100652969C>T g.101397981C>T GLA(NM_000169.2):c.1118G>A (p.G373D) - GLA_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-10376C>G r.(?) p.(=) - VUS g.100652985C>G g.101397997C>G GLA(NM_000169.2):c.1102G>C (p.A368P) - HNRNPH2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.-10361G>A r.(?) p.(=) - likely pathogenic g.100653000G>A g.101398012G>A - - GLA_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-10350A>G r.(?) p.(=) - VUS g.100653011A>G g.101398023A>G GLA(NM_000169.2):c.1076T>C (p.I359T) - GLA_000676 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.-10347T>C r.(?) p.(=) - pathogenic g.100653014T>C - GLA(NM_000169.2):c.1073A>G (p.E358G) - GLA_000370 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.-10346C>G r.(?) p.(=) - likely pathogenic g.100653015C>G g.101398027C>G GLA(NM_000169.2):c.1072G>C (p.E358Q) - GLA_000677 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-10341C>T r.(?) p.(=) - VUS g.100653020C>T g.101398032C>T GLA(NM_000169.2):c.1067G>A (p.R356Q) - GLA_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-10334_-10326del r.(?) p.(=) - likely pathogenic g.100653027_100653035del g.101398039_101398047del - - HNRNPH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-10299C>T r.(?) p.(=) - pathogenic g.100653062C>T g.101398074C>T GLA(NM_000169.2):c.1025G>A (p.R342Q) - GLA_000345 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.-10282G>A r.(?) p.(=) - likely benign g.100653079G>A g.101398091G>A GLA(NM_000169.2):c.1008C>T (p.N336=) - GLA_000678 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.-10280T>C r.(?) p.(=) - likely benign g.100653081T>C g.101398093T>C - - HNRNPH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-10273_-10272insA r.(?) p.(=) - likely pathogenic g.100653088_100653089insA g.101398100_101398101insA - - HNRNPH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.-10252G>A r.(?) p.(=) - benign g.100653109G>A g.101398121G>A GLA(NM_000169.2):c.1000-22C>T - GLA_000679 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.-10204_-10202del r.(?) p.(=) - VUS g.100653157_100653159del g.101398169_101398171del - - HNRNPH2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-10015_-10014insTTTTAAGATGG r.(?) p.(=) - likely benign g.100653346_100653347insTTTTAAGATGG g.101398358_101398359insTTTTAAGATGG - - HNRNPH2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 4 - c.-9982C>T r.(?) p.(=) - benign, likely benign g.100653379C>T g.101398391C>T GLA(NM_000169.2):c.978G>A (p.K326=) - GLA_000680 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.-9966_-9965dup r.(?) p.(=) - pathogenic g.100653395_100653396dup g.101398407_101398408dup GLA(NM_000169.2):c.961_962dupCA (p.Q321Hfs*28) - HNRNPH2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 4 - c.-9960A>G r.(?) p.(=) - likely pathogenic, pathogenic g.100653401A>G g.101398413A>G GLA(NM_000169.2):c.956T>C (p.I319T) - GLA_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 5 - c.-9949G>A r.(?) p.(=) - benign, likely benign g.100653412G>A g.101398424G>A GLA(NM_000169.2):c.945C>T (p.D315=) - GLA_000682 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/., ?/. 6 - c.-9941C>A r.(?) p.(=) - benign, likely benign, VUS g.100653420C>A g.101398432C>A 1 more item - GLA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 3 - c.-9925G>C r.(?) p.(=) - likely benign g.100653436G>C g.101398448G>C GLA(NM_000169.2):c.921C>G (p.A307=) - GLA_000683 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.-9905G>A r.(?) p.(=) - pathogenic g.100653456G>A g.101398468G>A GLA(NM_000169.2):c.901C>T (p.R301*) - GLA_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.-9902G>A r.(?) p.(=) - likely pathogenic g.100653459G>A g.101398471G>A GLA(NM_000169.2):c.898C>T (p.L300F) - GLA_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-9844T>C r.(?) p.(=) - likely benign g.100653517T>C g.101398529T>C GLA(NM_000169.2):c.840A>G (p.Q280=) - GLA_000684 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.-9636A>C r.(?) p.(=) - pathogenic g.100653725A>C g.101398737A>C GLA(NM_000169.2):c.801+48T>G - HNRNPH2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-9624C>T r.(?) p.(=) - likely benign g.100653737C>T g.101398749C>T - - HNRNPH2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-9609A>G r.(?) p.(=) - likely benign g.100653752A>G g.101398764A>G - - HNRNPH2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-9588C>T r.(?) p.(=) - pathogenic g.100653773C>T g.101398785C>T GLA(NM_000169.2):c.801G>A (p.M267I) - GLA_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-9542C>G r.(?) p.(=) - likely benign g.100653819C>G g.101398831C>G - - GLA_000704 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-9504T>C r.(?) p.(=) - likely benign g.100653857T>C g.101398869T>C GLA(NM_000169.2):c.717A>G (p.I239M) - GLA_000685 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.-9503_-9496del r.(?) p.(=) - pathogenic g.100653858_100653865del g.101398870_101398877del - - HNRNPH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-9488T>C r.(?) p.(=) - VUS g.100653873T>C g.101398885T>C - - HNRNPH2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-9478C>T r.(?) p.(=) - VUS g.100653883C>T g.101398895C>T GLA(NM_000169.2):c.691G>A (p.D231N) - GLA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.-9466G>A r.(?) p.(=) - pathogenic g.100653895G>A g.101398907G>A - - GLA_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-9446C>T r.(?) p.(=) - VUS g.100653915C>T g.101398927C>T GLA(NM_000169.2):c.659G>A (p.R220Q) - GLA_000686 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.-9445G>A r.(?) p.(=) - pathogenic g.100653916G>A g.101398928G>A GLA(NM_000169.2):c.658C>T (p.R220*) - GLA_000572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 4 - c.-9411T>C r.(?) p.(=) - benign g.100653950T>C g.101398962T>C GLA(NM_000169.2):c.640-16A>G, RPL36A-HNRNPH2(NM_001199973.2):c.300+3505T>C - GLA_000688 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.-7725C>T r.(?) p.(=) - benign, likely benign g.100655636C>T g.101400648C>T GLA(NM_000169.2):c.639+18G>A - HNRNPH2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.-7707C>T r.(?) p.(=) - VUS g.100655654C>T g.101400666C>T GLA(NM_000169.2):c.639G>A (p.K213=) - GLA_000689 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-6737T>C r.(?) p.(=) - VUS g.100656624T>C g.101401636T>C - - HNRNPH2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-6690_-6689insGA r.(?) p.(=) - VUS g.100656671_100656672insGA g.101401683_101401684insGA GLA(NM_000169.2):c.495_496insTC (p.L166Sfs*3) - HNRNPH2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-6689A>C r.(?) p.(=) - likely pathogenic g.100656672A>C g.101401684A>C - - HNRNPH2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-6661del r.(?) p.(=) - pathogenic g.100656700del g.101401712del - - HNRNPH2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-6651C>T r.(?) p.(=) - VUS g.100656710C>T g.101401722C>T GLA(NM_000169.2):c.457G>A (p.D153N) - HNRNPH2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-6650G>A r.(?) p.(=) - likely benign g.100656711G>A g.101401723G>A - - HNRNPH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-6638dup r.(?) p.(=) - pathogenic g.100656723dup g.101401735dup GLA(NM_000169.2):c.447dupT (p.G150Wfs*6) - HNRNPH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-6630G>A r.(?) p.(=) - VUS g.100656731G>A g.101401743G>A GLA(NM_000169.2):c.436C>T (p.P146S) - GLA_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.-6621C>T r.(?) p.(=) - likely benign, VUS g.100656740C>T g.101401752C>T GLA(NM_000169.2):c.427G>A (p.A143T) - GLA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 4 - c.-6610T>C r.(?) p.(=) - likely benign g.100656751T>C g.101401763T>C GLA(NM_000169.2):c.416A>G (p.N139S) - GLA_000519 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/., ?/. 4 - c.-6570T>C r.(?) p.(=) - likely benign, VUS g.100656791T>C g.101401803T>C GLA(NM_000169.2):c.376A>G (p.S126G) - GLA_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.-6485_-6481del r.(?) p.(=) - benign g.100656876_100656880del g.101401888_101401892del - - HNRNPH2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-4562A>G r.(?) p.(=) - likely benign g.100658799A>G g.101403811A>G GLA(NM_000169.2):c.369T>C (p.Y123=) - HNRNPH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.-4546C>T r.(?) p.(=) - likely benign, VUS g.100658815C>T g.101403827C>T GLA(NM_000169.2):c.353G>A (p.R118H) - GLA_000692 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/., ?/. 5 - c.-4545G>A r.(?) p.(=) - pathogenic, VUS g.100658816G>A g.101403828G>A GLA(NM_000169.2):c.352C>T (p.R118C) - GLA_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/. 2 - c.-4528C>T r.(?) p.(=) - likely pathogenic, pathogenic g.100658833C>T g.101403845C>T GLA(NM_000169.2):c.335G>A (p.R112H) - GLA_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 - c.-4527G>A r.(?) p.(=) - pathogenic g.100658834G>A g.101403846G>A GLA(NM_000169.2):c.334C>T (p.R112C) - GLA_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.-4510A>C r.(?) p.(=) - pathogenic g.100658851A>C g.101403863A>C GLA(NM_000169.2):c.317T>G (p.L106R) - GLA_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.-4509G>A r.(?) p.(=) - VUS g.100658852G>A - GLA(NM_000169.2):c.316C>T (p.L106F) - HNRNPH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.-4462C>T r.(?) p.(=) - likely pathogenic g.100658899C>T g.101403911C>T GLA(NM_000169.2):c.269G>A (p.C90Y) - GLA_000693 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.-4440C>T r.(?) p.(=) - VUS g.100658921C>T g.101403933C>T GLA(NM_000169.2):c.247G>A (p.D83N) - GLA_000694 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 3 - c.-680T>C r.(?) p.(=) - benign g.100662681T>C g.101407693T>C GLA(NM_000169.2):c.194+17A>G, RPL36A-HNRNPH2(NM_001199973.2):c.301-4243T>C - GLA_000695 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.-635del r.(?) p.(=) - likely pathogenic g.100662726del - - - HNRNPH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.-605G>A r.(?) p.(=) - pathogenic g.100662756G>A g.101407768G>A - - GLA_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 4 - c.-598G>A r.(?) p.(=) - benign, likely benign g.100662763G>A g.101407775G>A GLA(NM_000169.2):c.129C>T (p.G43=) - GLA_000696 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.-593T>C r.(?) p.(=) - pathogenic g.100662768T>C g.101407780T>C GLA(NM_000169.2):c.124A>G (p.M42V) - GLA_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 4 - c.-592G>A r.(?) p.(=) - benign, likely benign g.100662769G>A g.101407781G>A GLA(NM_000169.2):c.123C>T (p.T41=), RPL36A-HNRNPH2(NM_001199973.2):c.301-4155G>A - GLA_000697 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.-589A>G r.(?) p.(=) - likely benign g.100662772A>G g.101407784A>G - - HNRNPH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-548G>A r.(?) p.(=) - likely benign g.100662813G>A g.101407825G>A GLA(NM_000169.2):c.79C>T (p.(Pro27Ser)) - HNRNPH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.-522A>G r.(?) p.(=) - pathogenic g.100662839A>G g.101407851A>G GLA(NM_000169.2):c.53T>C (p.F18S) - GLA_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.-517A>C r.(?) p.(=) - likely benign g.100662844A>C g.101407856A>C GLA(NM_000169.2):c.48T>G (p.L16=) - GLA_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.-500C>G r.(?) p.(=) - VUS g.100662861C>G g.101407873C>G - - HNRNPH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-492A>T r.(?) p.(=) - likely benign g.100662869A>T g.101407881A>T GLA(NM_000169.2):c.23T>A (p.L8Q) - HNRNPH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-477A>G r.(?) p.(=) - likely benign g.100662884A>G g.101407896A>G GLA(NM_000169.2):c.8T>C (p.L3P) - HNRNPH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-462G>C r.(?) p.(=) - likely benign g.100662899G>C g.101407911G>C - - HNRNPH2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 4 - c.-460G>A r.(?) p.(=) - benign, likely benign g.100662901G>A g.101407913G>A GLA(NM_000169.2):c.-10C>T, RPL36A-HNRNPH2(NM_001199973.2):c.301-4023G>A - GLA_000699 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 3 - c.-458C>T r.(?) p.(=) - benign g.100662903C>T g.101407915C>T GLA(NM_000169.2):c.-12G>A, RPL36A-HNRNPH2(NM_001199973.2):c.301-4021C>T - GLA_000702 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.-440C>T r.(?) p.(=) - benign g.100662921C>T g.101407933C>T GLA(NM_000169.2):c.-30G>A - GLA_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.-430C>G r.(?) p.(=) - likely benign g.100662931C>G g.101407943C>G - - HNRNPH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-53-17del r.(=) p.(=) - VUS g.100666907del g.101411919del - - HNRNPH2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.390C>A r.(?) p.(Phe130Leu) - VUS g.100667366C>A - HNRNPH2(NM_001032393.2):c.390C>A (p.F130L) - HNRNPH2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.610A>G r.(?) p.(Met204Val) - likely benign g.100667586A>G g.101412598A>G HNRNPH2(NM_001032393.2):c.610A>G (p.M204V) - HNRNPH2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.616C>T r.(?) p.(Arg206Trp) - pathogenic g.100667592C>T g.101412604C>T 1 more item - HNRNPH2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/., ?/. 2 - c.769T>A r.(?) p.(Ser257Thr), S257T - likely benign, VUS g.100667745T>A g.101412757T>A HNRNPH2(NM_001032393.2):c.769T>A (p.(Ser257Thr)), S257T - HNRNPH2_000003 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.969C>T r.(?) p.(Pro323=) - likely benign g.100667945C>T g.101412957C>T HNRNPH2(NM_001032393.2):c.969C>T (p.P323=) - HNRNPH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1170C>T r.(?) p.(Gly390=) - likely benign g.100668146C>T - HNRNPH2(NM_001032393.2):c.1170C>T (p.G390=) - HNRNPH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1320C>T r.(?) p.(=) - VUS g.100668296C>T g.101413308C>T N440N - HNRNPH2_000005 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - Lucy Raymond
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