Unique variants in the AVPR2 gene

Information The variants shown are described using the NM_000054.4 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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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.(?_-71)_(*438del_?) r.0 p.0 - likely pathogenic g.? g.? AVPR2(NM_000054.4):whole gene deletion - USP9X_000005 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 222 - - - LOVD
./. 1 - c.-459794_*437724dup r.0? p.0? - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - - - Johan den Dunnen
?/. 2 - c.-153_-152insC - p.(=) - VUS g.153170447_153170448insC g.153904993_153904994insC - - AVPR2_000051 - - - - Germline - - - - - Yu Sun
+?/. 1 - c.(?_-71)_(*438_?)del r.0 p.0 - likely pathogenic g.? g.? AVPR2(NM_000054.4)whole gene deletion - USP9X_000005 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 198 - - - LOVD
-?/. 1 - c.-5C>A r.(?) p.(=) - likely benign g.153170595C>A g.153905141C>A - - AVPR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 5 - c.26-6T>G r.(=) p.(=) - benign, VUS g.153170980T>G g.153905526T>G AVPR2(NM_001146151.3):c.26-6T>G - AVPR2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Yu Sun, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/., ?/. 4 - c.35G>A r.(?) p.(Gly12Glu) - benign, likely benign, VUS g.153170995G>A g.153905541G>A AVPR2(NM_000054.4):c.35G>A (p.(Gly12Glu)), AVPR2(NM_001146151.3):c.35G>A (p.G12E), G12E - AVPR2_000003, AVPR2_000055 recurrent, found 4 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 4/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.76G>A r.(?) p.(Glu26Lys) - likely benign g.153171036G>A g.153905582G>A AVPR2(NM_001146151.2):c.76G>A (p.E26K) - ARHGAP4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.94C>T r.(?) p.(Arg32Trp) - VUS g.153171054C>T g.153905600C>T AVPR2(NM_001146151.2):c.94C>T (p.R32W) - ARHGAP4_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.112C>T r.(?) p.(Arg38Trp) - VUS g.153171072C>T g.153905618C>T AVPR2(NM_001146151.2):c.112C>T (p.R38W) - AVPR2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.117G>A r.(=), r.(?) p.(=), p.(Ala39=) - likely benign, VUS g.153171077G>A g.153905623G>A A39A, AVPR2(NM_001146151.2):c.117G>A (p.A39=) - AVPR2_000002 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
+?/. 1 - c.130C>T r.(?) p.(Leu44Phe) - likely pathogenic g.153171090C>T g.153905636C>T - - AVPR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.167G>A r.(?) p.(Gly56Asp) - VUS g.153171127G>A g.153905673G>A - - AVPR2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.176T>C r.(?) p.(Leu59Pro) - likely pathogenic g.153171136T>C g.153905682T>C - - AVPR2_000060 31 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922112 Germline - 31/2541 individuals - - - Mohammed Faruq
?/. 1 - c.200_208del r.(?) p.(Arg67_Gly69del) - VUS g.153171160_153171168del - AVPR2(NM_001146151.2):c.200_208delGGCGGGGCC (p.R67_G69del) - AVPR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.203G>A r.(?) p.(Arg68Gln) - likely benign g.153171163G>A - AVPR2(NM_000054.7):c.203G>A (p.R68Q) - ARHGAP4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.253G>A r.(?) p.(Asp85Asn) - likely pathogenic g.153171213G>A g.153905759G>A - - ARHGAP4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.262G>A r.(?) p.(Val88Met) - likely pathogenic g.153171222G>A g.153905768G>A - - AVPR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.275A>T r.(?) p.(Gln92Leu) - likely pathogenic g.153171235A>T g.153905781A>T - - AVPR2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.310C>T r.(?) p.(Arg104Cys) - pathogenic g.153171270C>T g.153905816C>T AVPR2(NM_000054.6):c.310C>T (p.R104C) - AVPR2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.317G>A r.(?) p.(Arg106His) - likely benign g.153171277G>A g.153905823G>A AVPR2(NM_001146151.2):c.317G>A (p.R106H) - ARHGAP4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.337C>T r.(?) p.(Arg113Trp) - likely pathogenic g.153171297C>T g.153905843C>T - - AVPR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.338G>A r.(?) p.(Arg113Gln) ACMG likely pathogenic g.153171298G>A g.153905844G>A AVPR2 c.338G>A, p.R113Q - AVPR2_000065 hemizygous; solved PubMed: Zacchia 2021 - - Unknown ? - - - - LOVD
-?/. 1 - c.340G>A r.(?) p.(Ala114Thr) - likely benign g.153171300G>A g.153905846G>A AVPR2(NM_001146151.2):c.340G>A (p.A114T) - AVPR2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.394G>C r.(?) p.(Ala132Pro) - pathogenic g.153171354G>C g.153905900G>C - - AVPR2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 - c.409C>T r.(?) p.(Arg137Cys) - likely pathogenic, pathogenic g.153171369C>T g.153905915C>T AVPR2(NM_000054.4):c.409C>T(p.R137C) - AVPR2_000030 VKGL data sharing initiative Nederland PubMed: Sun 2018 - - CLASSIFICATION record, Germline/De novo (untested) ? 237 - - - VKGL-NL_Nijmegen
+/. 1 - c.410G>A r.(?) p.(Arg137His) - pathogenic g.153171370G>A g.153905916G>A - - AVPR2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.427C>T r.(?) p.(Arg143Cys) - VUS g.153171387C>T g.153905933C>T AVPR2(NM_001146151.2):c.427C>T (p.R143C) - ARHGAP4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.435G>C r.(?) p.(Met145Ile) - VUS g.153171395G>C - - - ARHGAP4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.441G>A r.(?) p.(Ala147=) - likely benign g.153171401G>A g.153905947G>A AVPR2(NM_001146151.2):c.441G>A (p.A147=) - ARHGAP4_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.472C>T r.(?) p.(Arg158Trp) - VUS g.153171432C>T - AVPR2(NM_001146151.3):c.472C>T (p.R158W) - ARHGAP4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.474G>A r.(?) p.(Arg158=) - likely benign g.153171434G>A - AVPR2(NM_001146151.2):c.474G>A (p.R158=) - ARHGAP4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.482T>C r.(?) p.(Leu161Pro) - likely pathogenic g.153171442T>C g.153905988T>C - - ARHGAP4_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.485T>C r.(?) p.(Val162Ala) - likely benign g.153171445T>C g.153905991T>C AVPR2(NM_001146151.2):c.485T>C (p.V162A) - ARHGAP4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.491G>T r.(?) p.(Trp164Leu) - likely pathogenic g.153171451G>T g.153905997G>T AVPR2(NM_000054.6):c.491G>T (p.W164L) - AVPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.541C>T r.(?) p.(Arg181Cys) - pathogenic g.153171501C>T g.153906047C>T - - AVPR2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.546C>T r.(?) p.(Asn182=) - likely benign g.153171506C>T g.153906052C>T AVPR2(NM_001146151.2):c.546C>T (p.N182=) - ARHGAP4_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.553G>T r.(?) p.(Gly185Cys) - pathogenic g.153171513G>T g.153906059G>T - - AVPR2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.604C>T r.(?) p.(Arg202Cys) - likely pathogenic g.153171564C>T g.153906110C>T - - AVPR2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.643G>A r.(?) p.(Val215Met) - likely benign g.153171603G>A g.153906149G>A AVPR2(NM_001146151.3):c.643G>A (p.V215M) - ARHGAP4_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.672C>A r.(?) p.(Cys224*) - likely pathogenic g.153171632C>A g.153906178C>A 1 more item - AVPR2_000064 hemizygous PubMed: Ehrenberg 2019 - - Germline yes - - - - LOVD
+?/. 1 - c.673C>T r.(?) p.(Gln225*) - likely pathogenic g.153171633C>T g.153906179C>T - - AVPR2_000061 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922117 Germline - 6/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.716G>A r.(?) p.(Gly239Glu) - likely benign g.153171676G>A - AVPR2(NM_001146151.2):c.716G>A (p.G239E) - ARHGAP4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.740G>A r.(?) p.(Arg247His) - likely benign g.153171700G>A g.153906246G>A AVPR2(NM_001146151.2):c.740G>A (p.R247H) - AVPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.742C>T r.(?) p.(Arg248Cys) - VUS g.153171702C>T - AVPR2(NM_001146151.2):c.742C>T (p.R248C) - ARHGAP4_000092 VKGL data sharing initiative Nederland Doucette 2021, submitted - rs782516523 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Rotterdam, Lance P Doucette
-?/. 3 - c.744_755del r.(?) p.(Arg249_Arg252del) - likely benign g.153171704_153171715del g.153906250_153906261del 1 more item - AVPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.752G>A r.(?) p.(Arg251His) - likely benign g.153171712G>A g.153906258G>A AVPR2(NM_001146151.2):c.752G>A (p.R251H) - ARHGAP4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.752_758del r.(?) p.(Arg251Glnfs*18) - likely pathogenic g.153171712_153171718del g.153906258_153906264del - - AVPR2_000062 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs193922118 Germline - 4/2739 individuals - - - Mohammed Faruq
-?/. 1 - c.754C>T r.(?) p.(Arg252Trp) - likely benign g.153171714C>T g.153906260C>T AVPR2(NM_000054.4):c.754C>T (p.(Arg252Trp)) - ARHGAP4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.828_833del r.(?) p.(Val278_Val279del) - VUS g.153171788_153171793del g.153906334_153906339del - - AVPR2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.835G>A r.(?) p.(Val279Ile) - likely benign g.153171795G>A g.153906341G>A AVPR2(NM_000054.4):c.835G>A (p.(Val279Ile)) - ARHGAP4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.891C>T r.(?) p.(Asp297=) - likely benign g.153171851C>T g.153906397C>T AVPR2(NM_001146151.2):c.891C>T (p.D297=) - AVPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.910+1G>A r.spl? p.? - pathogenic g.153171871G>A g.153906417G>A AVPR2(NM_000054.7):c.910+1G>A - AVPR2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/., ?/. 3 - c.927A>G r.(=), r.(?) p.(=), p.(Leu309=) - benign, VUS g.153171993A>G g.153906539A>G AVPR2(NM_000054.6):c.927A>G (p.L309=), AVPR2(NM_000054.7):c.927A>G (p.L309=), L309L - AVPR2_000004, AVPR2_000015 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/., ?/. 2 - c.944G>T r.(?) p.(Ser315Ile) - likely pathogenic, VUS g.153172010G>T g.153906556G>T AVPR2(NM_000054.4):c.944G>T (p.(Ser315Ile)) - AVPR2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+?/. 1 - c.954C>G r.(?) p.(Ser318Arg) - likely pathogenic g.153172020C>G g.153906566C>G - - AVPR2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.963C>A r.(?) p.(Asn321Lys) - pathogenic g.153172029C>A g.153906575C>A - - AVPR2_000063 - - - - Germline - - - - - Sha Hong
+/. 1 - c.968G>A r.(?) p.(Trp323Ter) - pathogenic g.153172034G>A g.153906580G>A - - AVPR2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.975T>C r.(?) p.(Tyr325=) - likely benign g.153172041T>C - AVPR2(NM_000054.5):c.975T>C (p.Y325=) - ARHGAP4_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 - c.993C>T r.(=), r.(?) p.(=), p.(Ser331=) - benign, VUS g.153172059C>T g.153906605C>T AVPR2(NM_000054.6):c.993C>T (p.S331=), S331S - AVPR2_000005, AVPR2_000016 recurrent, found 4 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 4/208 cases - - - Lucy Raymond, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1002dup r.(?) p.(Glu335ArgfsTer22) - pathogenic g.153172068dup g.153906614dup - - ARHGAP4_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1009C>T r.(?) p.(Arg337Ter) - pathogenic g.153172075C>T g.153906621C>T - - AVPR2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 3 - c.1017G>A r.(=), r.(?) p.(=), p.(Leu339=) - benign, likely benign, VUS g.153172083G>A g.153906629G>A AVPR2(NM_000054.5):c.1017G>A (p.L339=), AVPR2(NM_000054.6):c.1017G>A (p.L339=), L339L - AVPR2_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.1036C>T r.(?) p.(Arg346Cys) - likely benign g.153172102C>T - AVPR2(NM_000054.5):c.1036C>T (p.R346C) - ARHGAP4_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1037G>A r.(?) p.(Arg346His) - likely benign g.153172103G>A - AVPR2(NM_000054.5):c.1037G>A (p.R346H) - ARHGAP4_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1055G>A r.(?) p.(Gly352Asp) - benign, likely benign g.153172121G>A g.153906667G>A 1 more item - AVPR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1071C>T r.(?) p.(Ser357=) - likely benign g.153172137C>T - AVPR2(NM_000054.5):c.1071C>T (p.S357=) - ARHGAP4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1112C>T r.(?) p.(Ser371Leu) - likely benign g.153172178C>T g.153906724C>T AVPR2(NM_000054.5):c.1112C>T (p.S371L) - ARHGAP4_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*328G>A r.(=) p.(=) - VUS g.153172510G>A g.153907056G>A AVPR2(NR_027419.1):n.1491G>A - ARHGAP4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1017G>A r.(=) p.(=) - likely benign g.153173199G>A - ARHGAP4(NM_001164741.1):c.2945C>T (p.T982I) - ARHGAP4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1020G>A r.(=) p.(=) - likely benign g.153173202G>A g.153907748G>A ARHGAP4(NM_001164741.1):c.2942C>T (p.T981M) - ARHGAP4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1074C>T r.(=) p.(=) - likely benign g.153173256C>T g.153907802C>T ARHGAP4(NM_001164741.1):c.2888G>A (p.R963Q) - ARHGAP4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1101C>A r.(=) p.(=) - likely benign g.153173283C>A g.153907829C>A ARHGAP4(NM_001164741.1):c.2861G>T (p.R954L) - ARHGAP4_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*1231C>T r.(=) p.(=) - VUS g.153173413C>T g.153907959C>T ARHGAP4(NM_001164741.1):c.2731G>A (p.V911M) - ARHGAP4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2356C>T r.(=) p.(=) - VUS g.153174538C>T - ARHGAP4(NM_001164741.1):c.2713G>A (p.V905M) - ARHGAP4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2357G>A r.(=) p.(=) - likely benign g.153174539G>A - ARHGAP4(NM_001164741.1):c.2712C>T (p.H904=) - ARHGAP4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2389G>A r.(=) p.(=) - likely benign g.153174571G>A - ARHGAP4(NM_001164741.1):c.2680C>T (p.R894C) - ARHGAP4_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2399T>C r.(=) p.(=) - likely benign g.153174581T>C - ARHGAP4(NM_001164741.1):c.2670A>G (p.G890=) - ARHGAP4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2726C>G r.(=) p.(=) - VUS g.153174908C>G g.153909454C>G ARHGAP4(NM_001164741.1):c.2616G>C (p.E872D) - ARHGAP4_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*2740G>A r.(=) p.(=) - VUS g.153174922G>A g.153909468G>A ARHGAP4(NM_001164741.1):c.2602C>T (p.(Leu868Phe)) - ARHGAP4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2752T>G r.(=) p.(=) - likely benign g.153174934T>G g.153909480T>G ARHGAP4(NM_001164741.1):c.2590A>C (p.(Ser864Arg)) - ARHGAP4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*2767C>A r.(=) p.(=) - VUS g.153174949C>A g.153909495C>A ARHGAP4(NM_001164741.1):c.2575G>T (p.G859W) - ARHGAP4_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2810G>A r.(=) p.(=) - likely benign g.153174992G>A - ARHGAP4(NM_001164741.1):c.2535-3C>T - ARHGAP4_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*2811C>T r.(=) p.(=) - likely benign g.153174993C>T g.153909539C>T ARHGAP4(NM_001164741.1):c.2535-4G>A (p.?) - ARHGAP4_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.*3007A>G r.(=) p.(=) - likely benign, VUS g.153175189A>G g.153909735A>G ARHGAP4(NM_001164741.1):c.2534+6T>C, ARHGAP4(NM_001164741.2):c.2534+6T>C - ARHGAP4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*3015G>T r.(=) p.(=) - likely benign g.153175197G>T - ARHGAP4(NM_001164741.1):c.2532C>A (p.A844=) - ARHGAP4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*3187C>T r.(=) p.(=) - VUS g.153175369C>T - ARHGAP4(NM_001164741.1):c.2360G>A (p.G787E) - ARHGAP4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3319G>A r.(=) p.(=) - likely benign g.153175501G>A - ARHGAP4(NM_001164741.1):c.2315C>T (p.P772L) - ARHGAP4_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3339G>A r.(=) p.(=) - likely benign g.153175521G>A g.153910067G>A ARHGAP4(NM_001164741.1):c.2295C>T (p.S765=) - ARHGAP4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3457G>A r.(=) p.(=) - likely benign g.153175639G>A - ARHGAP4(NM_001164741.1):c.2262C>T (p.S754=) - ARHGAP4_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3486C>T r.(=) p.(=) - likely benign g.153175668C>T g.153910214C>T ARHGAP4(NM_001164741.1):c.2233G>A (p.V745I) - ARHGAP4_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*3563C>T r.(=) p.(=) - benign g.153175745C>T g.153910291C>T ARHGAP4(NM_001164741.1):c.2156G>A (p.R719Q) - ARHGAP4_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3568C>T r.(=) p.(=) - likely benign g.153175750C>T - ARHGAP4(NM_001164741.1):c.2151G>A (p.Q717=) - ARHGAP4_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3602G>A r.(=) p.(=) - likely benign g.153175784G>A g.153910330G>A ARHGAP4(NM_001164741.1):c.2117C>T (p.P706L) - ARHGAP4_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3606G>A r.(=) p.(=) - likely benign g.153175788G>A g.153910334G>A ARHGAP4(NM_001164741.1):c.2113C>T (p.L705=) - ARHGAP4_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3619G>A r.(=) p.(=) - likely benign g.153175801G>A g.153910347G>A ARHGAP4(NM_001164741.1):c.2100C>T (p.F700=) - ARHGAP4_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*3661G>A r.(=) p.(=) - likely benign g.153175843G>A - ARHGAP4(NM_001164741.1):c.2058C>T (p.S686=) - ARHGAP4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4005G>C r.(=) p.(=) - likely benign g.153176187G>C g.153910733G>C ARHGAP4(NM_001164741.1):c.1903C>G (p.P635A) - ARHGAP4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4054G>A r.(=) p.(=) - likely benign g.153176236G>A - ARHGAP4(NM_001164741.1):c.1854C>T (p.A618=) - ARHGAP4_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4096T>C r.(=) p.(=) - likely benign g.153176278T>C g.153910824T>C ARHGAP4(NM_001164741.1):c.1812A>G (p.P604=) - ARHGAP4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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