Full data view for gene ARHGEF10

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_014629.2 transcript reference sequence.

171 entries on 2 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     
-?/. - c.-47-18T>C r.(=) p.(=) Unknown - likely benign g.1791501T>C - ARHGEF10(NM_001308153.2):c.26-18T>C - ARHGEF10_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-47-9T>C r.(=) p.(=) Unknown - likely benign g.1791510T>C g.1843344T>C ARHGEF10(NM_001308153.2):c.26-9T>C - ARHGEF10_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10C>T r.(?) p.(Arg4*) Unknown - VUS g.1791575C>T - ARHGEF10(NM_014629.4):c.10C>T (p.R4*) - ARHGEF10_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27C>T r.(?) p.(Pro9=) Unknown - likely benign g.1791592C>T - ARHGEF10(NM_001308153.2):c.99C>T (p.P33=) - ARHGEF10_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.38-36_38-33del r.(=) p.(=) Unknown - benign g.1806090_1806093del - ARHGEF10(NM_001308153.2):c.110-36_110-33delATCT - ARHGEF10_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.38-10T>C r.(=) p.(=) Unknown - benign g.1806116T>C g.1857950T>C ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C - ARHGEF10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38-10T>C r.(=) p.(=) Unknown - likely benign g.1806116T>C g.1857950T>C ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C - ARHGEF10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38-10T>C r.(=) p.(=) Unknown - likely benign g.1806116T>C g.1857950T>C ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C - ARHGEF10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.38-8_38-4del r.spl? p.? Unknown - benign g.1806118_1806122del g.1857952_1857956del ARHGEF10(NM_001308153.2):c.110-8_110-4delCTTTT - ARHGEF10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Ala42=) Unknown - likely benign g.1806214G>A g.1858048G>A ARHGEF10(NM_001308153.2):c.198G>A (p.A66=), ARHGEF10(NM_014629.2):c.126G>A (p.A42=) - ARHGEF10_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>A r.(?) p.(Ala42=) Unknown - likely benign g.1806214G>A - ARHGEF10(NM_001308153.2):c.198G>A (p.A66=), ARHGEF10(NM_014629.2):c.126G>A (p.A42=) - ARHGEF10_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - likely benign g.1806227C>T - ARHGEF10(NM_001308153.1):c.211C>T (p.P71S) - ARHGEF10_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141A>C r.(?) p.(Pro47=) Unknown - benign g.1806229A>C g.1858063A>C ARHGEF10(NM_001308153.2):c.213A>C (p.P71=), ARHGEF10(NM_014629.2):c.141A>C (p.P47=) - ARHGEF10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141A>C r.(?) p.(Pro47=) Unknown - benign g.1806229A>C g.1858063A>C ARHGEF10(NM_001308153.2):c.213A>C (p.P71=), ARHGEF10(NM_014629.2):c.141A>C (p.P47=) - ARHGEF10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160G>A r.(?) p.(Gly54Ser) Unknown - VUS g.1806248G>A - ARHGEF10(NM_001308153.2):c.232G>A (p.G78S) - ARHGEF10_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185C>T r.(?) p.(Ala62Val) Unknown - VUS g.1806273C>T g.1858107C>T ARHGEF10(NM_001308153.2):c.257C>T (p.A86V) - ARHGEF10_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.193+48_193+71del r.(=) p.(=) Unknown - benign g.1806329_1806352del g.1858163_1858186del ARHGEF10(NM_001308153.2):c.265+48_265+71delGGTGAGTCCCCAGGTGGGTCCCCA - ARHGEF10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209C>T r.(?) p.(Ala70Val) Unknown - likely benign g.1808078C>T - ARHGEF10(NM_001308153.1):c.281C>T (p.A94V) - ARHGEF10_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.218A>C r.(?) p.(Glu73Ala) Unknown - VUS g.1808087A>C g.1859921A>C - - ARHGEF10_000092 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2954 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.257C>T r.(?) p.(Pro86Leu) Unknown - VUS g.1808126C>T - ARHGEF10(NM_001308153.2):c.329C>T (p.P110L) - ARHGEF10_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258G>A r.(?) p.(Pro86=) Unknown - likely benign g.1808127G>A g.1859961G>A ARHGEF10(NM_014629.2):c.258G>A (p.P86=) - ARHGEF10_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.293C>T r.(?) p.(Thr98Met) Unknown - likely benign g.1808162C>T - ARHGEF10(NM_001308153.2):c.365C>T (p.T122M) - ARHGEF10_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355C>G r.(?) p.(Leu119Val) Unknown - likely benign g.1808224C>G g.1860058C>G ARHGEF10(NM_001308153.1):c.427C>G (p.L143V) - ARHGEF10_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387A>G r.(?) p.(Val129=) Unknown - benign g.1808256A>G g.1860090A>G ARHGEF10(NM_001308153.2):c.459A>G (p.V153=), ARHGEF10(NM_014629.4):c.387A>G (p.V129=) - ARHGEF10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387A>G r.(?) p.(Val129=) Unknown - benign g.1808256A>G g.1860090A>G ARHGEF10(NM_001308153.2):c.459A>G (p.V153=), ARHGEF10(NM_014629.4):c.387A>G (p.V129=) - ARHGEF10_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392G>C r.(?) p.(Cys131Ser) Unknown - VUS g.1808261G>C g.1860095G>C - - ARHGEF10_000048 - PubMed: Nakhro 2013 rs183992684 - Germline no - - - - DNA SEQ - WES CMT 23749797-FamFC478 PubMed: Nakhro 2013 3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F no Korea - - - - - 3 Johan den Dunnen
-?/. - c.401C>T r.(?) p.(Ala134Val) Unknown - likely benign g.1808270C>T g.1860104C>T ARHGEF10(NM_001308153.2):c.473C>T (p.A158V) - ARHGEF10_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401C>T r.(?) p.(Ala134Val) Unknown - likely benign g.1808270C>T g.1860104C>T ARHGEF10(NM_001308153.2):c.473C>T (p.A158V) - ARHGEF10_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469C>G r.(?) p.(Leu157Val) Unknown - VUS g.1808338C>G g.1860172C>G ARHGEF10(NM_001308153.2):c.541C>G (p.L181V) - ARHGEF10_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.591C>T r.(?) p.(Ala197=) Unknown - benign g.1814737C>T g.1866571C>T ARHGEF10(NM_001308153.2):c.666C>T (p.A222=) - ARHGEF10_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.604A>C r.(?) p.Asn202His Unknown ACMG VUS g.1814750A>C g.1866584A>C - - ARHGEF10_000047 reported in Schahüttl ; 2014. JNeurol 261: 970-82 - - rs767902219 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
-/. - c.630G>A r.(?) p.(Glu210=) Unknown - benign g.1817367G>A g.1869201G>A ARHGEF10(NM_001308153.2):c.705G>A (p.E235=), ARHGEF10(NM_014629.4):c.630G>A (p.E210=) - ARHGEF10_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.630G>A r.(?) p.(Glu210=) Unknown - benign g.1817367G>A g.1869201G>A ARHGEF10(NM_001308153.2):c.705G>A (p.E235=), ARHGEF10(NM_014629.4):c.630G>A (p.E210=) - ARHGEF10_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.824G>A r.(?) p.(Arg275His) Unknown - VUS g.1824881G>A g.1876715G>A - - ARHGEF10_000049 - PubMed: Nakhro 2013 - rs145821459 Germline no 1/3 sisters - - - DNA SEQ - WES CMT 23749797-FamFC478 PubMed: Nakhro 2013 3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F no Korea - - - - - 3 Johan den Dunnen
+?/. - c.824G>A r.(?) p.(Arg275His) Unknown - likely pathogenic g.1824881G>A g.1876715G>A ARHGEF10 (NM_014629.2):c.824G>A(p.R275H); PMP22(NM_153322.1):whole gene duplication - ARHGEF10_000049 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 132 - - - DNA SEQ-NG-I blood - ? WHP32 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-/. - c.843+15C>T r.(=) p.(=) Unknown - benign g.1824915C>T g.1876749C>T ARHGEF10(NM_001308153.2):c.918+15C>T - ARHGEF10_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885A>G r.(?) p.(Lys295=) Unknown - benign g.1828255A>G g.1880089A>G ARHGEF10(NM_001308153.2):c.960A>G (p.K320=) - ARHGEF10_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898T>G r.(?) p.(Leu300Val) Unknown - VUS g.1828268T>G - ARHGEF10(NM_001308153.2):c.973T>G (p.L325V) - ARHGEF10_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.961-7G>A r.(=) p.(=) Unknown - benign g.1830794G>A g.1882628G>A ARHGEF10(NM_014629.4):c.961-7G>A - ARHGEF10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.961-7G>A r.(=) p.(=) Unknown - benign g.1830794G>A g.1882628G>A ARHGEF10(NM_014629.4):c.961-7G>A - ARHGEF10_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972C>T r.(?) p.(Leu324=) Unknown - likely benign g.1830812C>T g.1882646C>T ARHGEF10(NM_001308153.2):c.1047C>T (p.L349=), ARHGEF10(NM_014629.2):c.972C>T (p.L324=) - ARHGEF10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972C>T r.(?) p.(Leu324=) Unknown - likely benign g.1830812C>T - ARHGEF10(NM_001308153.2):c.1047C>T (p.L349=), ARHGEF10(NM_014629.2):c.972C>T (p.L324=) - ARHGEF10_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.995C>T r.(?) p.(Thr332Ile) Parent #1 - pathogenic g.1830835C>T g.1882669C>T 326C>T (g.6110C>T, Thr109Ile) - ARHGEF10_000001 linkage analysis (LOD 9.33); not in 600 control chromosomes PubMed: Verhoeven 2003, OMIM:var0001 - rs28940281 Germline - - BanI- - - DNA SEQ - - SNCV - PubMed: Nelis 1998, PubMed: Verhoeven 2003 5-generation family, 13 affecteds - no Belgium - - - - - 13 Johan den Dunnen
+/. - c.995C>T r.(?) p.(Thr332Ile) Unknown - pathogenic g.1830835C>T g.1882669C>T ARHGEF10(NM_014629.4):c.995C>T (p.T332I) - ARHGEF10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075+8C>T r.(=) p.(=) Unknown - likely benign g.1830923C>T g.1882757C>T ARHGEF10(NM_001308153.2):c.1150+8C>T - ARHGEF10_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1075+12_1075+13insGGGTCTTCTTGC r.(=) p.(=) Unknown - likely benign g.1830927_1830928insGGGTCTTCTTGC - ARHGEF10(NM_001308153.2):c.1150+12_1150+13insGGGTCTTCTTGC, ARHGEF10(NM_014629.2):c.1075+12_1075+13insGGGTCTTCTTGC - ARHGEF10_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1075+12_1075+13insGGGTCTTCTTGC r.(=) p.(=) Unknown - benign g.1830927_1830928insGGGTCTTCTTGC - ARHGEF10(NM_001308153.2):c.1150+12_1150+13insGGGTCTTCTTGC, ARHGEF10(NM_014629.2):c.1075+12_1075+13insGGGTCTTCTTGC - ARHGEF10_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1075+13A>G r.(=) p.(=) Unknown - benign g.1830928A>G g.1882762A>G ARHGEF10(NM_014629.4):c.1075+13A>G - ARHGEF10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1075+13A>G r.(=) p.(=) Unknown - benign g.1830928A>G g.1882762A>G ARHGEF10(NM_014629.4):c.1075+13A>G - ARHGEF10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1075+13A>G r.(=) p.(=) Unknown - benign g.1830928A>G g.1882762A>G ARHGEF10(NM_014629.4):c.1075+13A>G - ARHGEF10_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1076-2A>C r.spl? p.? Unknown - VUS g.1833765A>C g.1885599A>C ARHGEF10(NM_001308153.1):c.1151-2A>C - ARHGEF10_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1110G>C r.(?) p.(Leu370Phe) Unknown - benign g.1833801G>C g.1885635G>C ARHGEF10(NM_001308153.2):c.1185G>C (p.L395F) - ARHGEF10_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110G>C r.(?) p.(Leu370Phe) Unknown - likely benign g.1833801G>C g.1885635G>C - - ARHGEF10_000036 - PubMed: Nakhro 2013 - rs9657362 Germline no - - - - DNA SEQ - WES CMT 23749797-FamFC478 PubMed: Nakhro 2013 3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F no Korea - - - - - 3 Johan den Dunnen
-/. - c.1113C>T r.(?) p.(Phe371=) Unknown - benign g.1833804C>T g.1885638C>T ARHGEF10(NM_001308153.2):c.1188C>T (p.F396=) - ARHGEF10_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1140A>G r.(?) p.(Glu380=) Unknown - benign g.1833831A>G - ARHGEF10(NM_001308153.2):c.1215A>G (p.E405=) - ARHGEF10_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180C>T r.(?) p.(Gln394*) Unknown - VUS g.1833871C>T - ARHGEF10(NM_014629.4):c.1180C>T (p.(Gln394*)) - ARHGEF10_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1206T>C r.(?) p.(=) Unknown - likely benign g.1841758T>C - ARHGEF10(NM_001308153.2):c.1281T>C (p.G427=), ARHGEF10(NM_014629.4):c.1206T>C (p.G402=) - ARHGEF10_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1215C>A r.(?) p.(=) Unknown - likely benign g.1841767C>A - ARHGEF10(NM_001308153.2):c.1290C>A (p.V430=) - ARHGEF10_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283A>T r.(?) p.(Glu428Val) Unknown - VUS g.1842581A>T g.1894415A>T ARHGEF10(NM_001308153.2):c.1358A>T (p.E453V) - ARHGEF10_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1372A>G r.(?) p.(Ile458Val) Unknown - VUS g.1842670A>G g.1894504A>G ARHGEF10(NM_001308153.2):c.1447A>G (p.I483V) - ARHGEF10_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1396G>A r.(?) p.(Glu466Lys) Unknown - VUS g.1842694G>A g.1894528G>A ARHGEF10(NM_001308153.2):c.1471G>A (p.E491K) - ARHGEF10_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1431C>T r.(?) p.(Phe477=) Unknown - benign g.1842729C>T g.1894563C>T ARHGEF10(NM_001308153.2):c.1506C>T (p.F502=) - ARHGEF10_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1440+10C>T r.(=) p.(=) Unknown - benign g.1842748C>T g.1894582C>T ARHGEF10(NM_001308153.1):c.1515+10C>T, ARHGEF10(NM_001308153.2):c.1515+10C>T - ARHGEF10_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1440+10C>T r.(=) p.(=) Unknown - likely benign g.1842748C>T - ARHGEF10(NM_001308153.1):c.1515+10C>T, ARHGEF10(NM_001308153.2):c.1515+10C>T - ARHGEF10_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1478A>G r.(?) p.(Tyr493Cys) Unknown - VUS g.1844536A>G - ARHGEF10(NM_001308153.2):c.1553A>G (p.Y518C) - ARHGEF10_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1511T>G r.(?) p.(Leu504Arg) Unknown - VUS g.1844569T>G - - - ARHGEF10_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1528A>G r.(?) p.(Thr510Ala) Unknown - VUS g.1844586A>G g.1896420A>G ARHGEF10(NM_001308153.2):c.1603A>G (p.T535A) - ARHGEF10_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+6C>T r.(=) p.(=) Unknown - likely benign g.1844621C>T - ARHGEF10(NM_001308153.1):c.1632+6C>T, ARHGEF10(NM_001308153.2):c.1632+6C>T - ARHGEF10_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+6C>T r.(=) p.(=) Unknown - likely benign g.1844621C>T - ARHGEF10(NM_001308153.1):c.1632+6C>T, ARHGEF10(NM_001308153.2):c.1632+6C>T - ARHGEF10_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557+18del r.(=) p.(=) Unknown - benign g.1844633del g.1896467del ARHGEF10(NM_001308153.2):c.1632+18delT - ARHGEF10_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1557+18dup r.(=) p.(=) Unknown - benign g.1844633dup g.1896467dup ARHGEF10(NM_001308153.2):c.1632+18dupT - ARHGEF10_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1558-37C>T r.(=) p.(=) Unknown - benign g.1846562C>T g.1898396C>T ARHGEF10(NM_014629.4):c.1558-37C>T - ARHGEF10_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632G>A r.(?) p.(Gln544=) Unknown - likely benign g.1846673G>A - ARHGEF10(NM_001308153.2):c.1704G>A (p.Q568=) - ARHGEF10_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1647C>T r.(?) p.(Leu549=) Unknown - benign g.1846688C>T g.1898522C>T ARHGEF10(NM_001308153.2):c.1719C>T (p.L573=) - ARHGEF10_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1822-4C>G r.spl? p.? Unknown - benign g.1853733C>G g.1905567C>G ARHGEF10(NM_001308153.2):c.1894-4C>G - ARHGEF10_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1843T>A r.(?) p.(Tyr615Asn) Unknown - VUS g.1853758T>A - ARHGEF10(NM_001308153.2):c.1915T>A (p.Y639N) - ARHGEF10_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1854A>G r.(?) p.(Arg618=) Unknown - likely benign g.1853769A>G g.1905603A>G ARHGEF10(NM_001308153.2):c.1926A>G (p.R642=) - ARHGEF10_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1884C>T r.(?) p.(Asn628=) Unknown - likely benign g.1853799C>T - ARHGEF10(NM_001308153.2):c.1956C>T (p.N652=) - ARHGEF10_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2005T>G r.(?) p.(Tyr669Asp) Unknown - VUS g.1857498T>G g.1909332T>G ARHGEF10(NM_001308153.2):c.2077T>G (p.Y693D) - ARHGEF10_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2055T>C r.(?) p.(Tyr685=) Unknown - benign g.1857548T>C g.1909382T>C ARHGEF10(NM_001308153.2):c.2127T>C (p.Y709=) - ARHGEF10_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063G>A r.(?) p.(Ser688Asn) Unknown - likely benign g.1857556G>A g.1909390G>A ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N) - ARHGEF10_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063G>A r.(?) p.(Ser688Asn) Unknown - likely benign g.1857556G>A - ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N) - ARHGEF10_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2063G>A r.(?) p.(Ser688Asn) Unknown - likely benign g.1857556G>A - ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N) - ARHGEF10_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2098G>A r.(?) p.(Val700Ile) Unknown - benign g.1857591G>A g.1909425G>A ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I) - ARHGEF10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2098G>A r.(?) p.(Val700Ile) Unknown - benign g.1857591G>A g.1909425G>A ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I) - ARHGEF10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2098G>A r.(?) p.(Val700Ile) Unknown - benign g.1857591G>A g.1909425G>A ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I) - ARHGEF10_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2106G>A r.(?) p.(=) Unknown - likely benign g.1857599G>A - ARHGEF10(NM_001308153.2):c.2178G>A (p.P726=) - ARHGEF10_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2136G>A r.(?) p.(Ala712=) Unknown - benign g.1857629G>A g.1909463G>A ARHGEF10(NM_001308153.2):c.2208G>A (p.A736=) - ARHGEF10_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2143+13T>G r.(=) p.(=) Unknown - benign g.1857649T>G g.1909483T>G ARHGEF10(NM_014629.4):c.2143+13T>G - ARHGEF10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2143+13T>G r.(=) p.(=) Unknown - benign g.1857649T>G g.1909483T>G ARHGEF10(NM_014629.4):c.2143+13T>G - ARHGEF10_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2144-16T>G r.(=) p.(=) Unknown - benign g.1871114T>G g.1922948T>G ARHGEF10(NM_014629.4):c.2144-16T>G - ARHGEF10_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2144-12del r.(=) p.(=) Unknown - likely benign g.1871118del g.1922952del ARHGEF10(NM_001308153.2):c.2216-12delC - ARHGEF10_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2197C>T r.(?) p.(His733Tyr) Unknown - likely benign g.1871183C>T - ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y) - ARHGEF10_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2197C>T r.(?) p.(His733Tyr) Unknown - likely benign g.1871183C>T - ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y) - ARHGEF10_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2197C>T r.(?) p.(His733Tyr) Unknown - likely benign g.1871183C>T - ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y) - ARHGEF10_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2259+8T>C r.(=) p.(=) Unknown - likely benign g.1871253T>C g.1923087T>C ARHGEF10(NM_001308153.2):c.2331+8T>C - ARHGEF10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2259+8T>C r.(=) p.(=) Unknown - likely benign g.1871253T>C g.1923087T>C ARHGEF10(NM_001308153.2):c.2331+8T>C - ARHGEF10_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2364A>C r.(?) p.(Leu788Phe) Unknown - VUS g.1871738A>C g.1923572A>C ARHGEF10(NM_001308153.2):c.2436A>C (p.L812F) - ARHGEF10_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2385C>T r.(?) p.(Asp795=) Unknown - likely benign g.1871759C>T g.1923593C>T ARHGEF10(NM_001308153.2):c.2457C>T (p.D819=), ARHGEF10(NM_014629.2):c.2385C>T (p.D795=) - ARHGEF10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2385C>T r.(?) p.(Asp795=) Unknown - likely benign g.1871759C>T - ARHGEF10(NM_001308153.2):c.2457C>T (p.D819=), ARHGEF10(NM_014629.2):c.2385C>T (p.D795=) - ARHGEF10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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