Full data view for gene USP9X

Information The variants shown are described using the NM_001039590.2 transcript reference sequence.

119 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.-208G>A r.(?) p.(=) Unknown - likely benign g.40945313G>A g.41086060G>A - - USP9X_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.82C>T r.(?) p.(Leu28Phe) Unknown - VUS g.40982963C>T g.41123710C>T - - USP9X_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.82dup r.(?) p.(Leu28ProfsTer10) Unknown - pathogenic g.40982963dup g.41123710dup USP9X(NM_001039590.2):c.82dupC (p.L28Pfs*10) - USP9X_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.96+233T>C r.(=) p.(=) Maternal (inferred) - VUS g.40983210T>C g.41123957T>C - - USP9X_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.97A>G r.(?) p.(Thr33Ala) Unknown - VUS g.40988253A>G g.41129000A>G USP9X(NM_001039591.3):c.97A>G (p.T33A) - USP9X_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131C>T r.(?) p.(Pro44Leu) Unknown - VUS g.40988287C>T g.41129034C>T USP9X(NM_001039590.2):c.131C>T (p.P44L) - USP9X_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304A>G r.(?) p.(Ile102Val) Unknown - VUS g.40990771A>G g.41131518A>G USP9X(NM_001039590.2):c.304A>G (p.I102V) - USP9X_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436-237T>A r.(=) p.(=) Maternal (inferred) - VUS g.40995820T>A g.41136567T>A - - USP9X_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.436-237T>A r.(=) p.(=) Maternal (inferred) - VUS g.40995820T>A g.41136567T>A - - USP9X_000036 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.654+38A>G r.(=) p.(=) Maternal (inferred) - VUS g.40996313A>G g.41137060A>G - - USP9X_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.654+38A>G r.(=) p.(=) Maternal (inferred) - VUS g.40996313A>G g.41137060A>G - - USP9X_000032 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.727A>G r.(?) p.(Asn243Asp) Maternal (inferred) - VUS g.40999981A>G g.41140728A>G - - USP9X_000085 - - - - Germline - - - 0 - DNA SEQ-NG blood - - - - - M no - - - 0 - - 1 Karine Poirier
?/. - c.1023A>G r.(?) p.(Arg341=) Unknown - VUS g.41000546A>G g.41141293A>G USP9X(NM_001039590.2):c.1023A>G (p.(=)) - USP9X_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1055T>C r.(?) p.(Met352Thr) Unknown - VUS g.41000578T>C g.41141325T>C USP9X(NM_001039590.2):c.1055T>C (p.M352T) - USP9X_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081G>C r.(?) p.(Val361Leu) Unknown - VUS g.41000604G>C g.41141351G>C USP9X(NM_001039590.2):c.1081G>C (p.(Val361Leu)) - USP9X_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1161+193A>G r.(=) p.(=) Maternal (inferred) - VUS g.41000877A>G g.41141624A>G - - USP9X_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1309G>A r.(?) p.(Ala437Thr) Unknown - likely benign g.41002691G>A g.41143438G>A - - USP9X_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1549A>C r.(?) p.(Ser517Arg) Unknown - VUS g.41007751A>C g.41148498A>C USP9X(NM_001039590.2):c.1549A>C (p.S517R) - USP9X_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1626+112C>T r.(=) p.(=) Maternal (inferred) - VUS g.41007940C>T g.41148687C>T - - USP9X_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1626+112C>T r.(=) p.(=) Maternal (inferred) - VUS g.41007940C>T g.41148687C>T - - USP9X_000027 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1627-136T>C r.(=) p.(=) Maternal (inferred) - VUS g.41010038T>C g.41150785T>C - - USP9X_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1627-136T>C r.(=) p.(=) Maternal (inferred) - VUS g.41010038T>C g.41150785T>C - - USP9X_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.1652G>A r.(?) p.(Trp551Ter) Unknown - pathogenic g.41010199G>A g.41150946G>A - - USP9X_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1704C>T r.(?) p.(Pro568=) Unknown - likely benign g.41010251C>T g.41150998C>T USP9X(NM_001039590.2):c.1704C>T (p.P568=) - USP9X_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1764-170del r.(=) p.(=) Maternal (inferred) - VUS g.41012031del g.41152778del - - USP9X_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1764-99G>T r.(=) p.(=) Maternal (inferred) - VUS g.41012102G>T g.41152849G>T - - USP9X_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1764-99G>T r.(=) p.(=) Maternal (inferred) - VUS g.41012102G>T g.41152849G>T - - USP9X_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1826A>G r.(?) p.(Asn609Ser) Unknown - VUS g.41012263A>G g.41153010A>G USP9X(NM_001039590.2):c.1826A>G (p.N609S) - USP9X_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1840_1843del r.(?) p.(Thr614TrpfsTer2) Unknown - pathogenic g.41012277_41012280del g.41153024_41153027del USP9X(NM_001039590.2):c.1840_1843delACTT (p.T614Wfs*2) - USP9X_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1879A>T r.(?) p.(Met627Leu) Unknown - likely benign g.41012316A>T g.41153063A>T USP9X(NM_001039590.2):c.1879A>T (p.M627L) - USP9X_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14i c.1897+280A>C r.(?) p.(=) Maternal (inferred) - VUS g.41012614A>C g.41153361A>C - - USP9X_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 14i c.1897+280A>C r.(?) p.(=) Maternal (inferred) - VUS g.41012614A>C g.41153361A>C - - USP9X_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1897+340T>G r.(=) p.(=) Maternal (inferred) - VUS g.41012674T>G g.41153421T>G - - USP9X_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1920A>C r.(?) p.(Gln640His) Unknown - VUS g.41022065A>C g.41162812A>C USP9X(NM_001039590.2):c.1920A>C (p.Q640H, p.(Gln640His)) - USP9X_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1920A>C r.(?) p.(Gln640His) Unknown - likely benign g.41022065A>C g.41162812A>C USP9X(NM_001039590.2):c.1920A>C (p.Q640H, p.(Gln640His)) - USP9X_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 16 c.2004T>A r.(?) p.(=) Maternal (inferred) - VUS g.41025143T>A g.41165890T>A 1983T>A (G661G) - USP9X_000001 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline ? 4/208 cases - 0 - DNA SEQ ? - MRX;IDX 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 4 Lucy Raymond
-?/. - c.2004T>A r.(?) p.(Gly668=) Unknown - likely benign g.41025143T>A g.41165890T>A USP9X(NM_001039590.2):c.2004T>A (p.G668=) - USP9X_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2144_2155delinsGTCTGGA r.(?) p.(Ile715Serfs*5) Unknown - pathogenic g.41025283_41025294delinsGTCTGGA g.41166030_41166041delinsGTCTGGA 2144_2155delTTAATAAGGACTinsGTCTGGA - USP9X_000113 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
?/. - c.2620A>G r.(?) p.(Ile874Val) Unknown - VUS g.41027455A>G g.41168202A>G - - USP9X_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2750G>A r.(?) p.(Arg917Gln) Unknown - VUS g.41029361G>A - - - USP9X_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3028-7A>G r.(=) p.(=) Unknown - likely benign g.41031084A>G g.41171831A>G USP9X(NM_001039590.2):c.3028-7A>G (p.(=)) - USP9X_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3039G>C r.(?) p.(Leu1013=) Unknown - likely benign g.41031102G>C - USP9X(NM_001039591.3):c.3039G>C (p.L1013=) - USP9X_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3184T>G r.(?) p.(Leu1062Val) Unknown - likely benign g.41043286T>G g.41184033T>G USP9X(NM_001039590.2):c.3184T>G (p.L1062V) - USP9X_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3268T>C r.(?) p.(Tyr1090His) Unknown - VUS g.41043370T>C g.41184117T>C - - USP9X_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3390A>C r.(?) p.(Leu1130=) Unknown - likely benign g.41043760A>C g.41184507A>C USP9X(NM_001039591.3):c.3390A>C (p.L1130=) - USP9X_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3422T>C r.(?) p.(Met1141Thr) Unknown - likely benign g.41043792T>C g.41184539T>C USP9X(NM_001039590.2):c.3422T>C (p.M1141T, p.(Met1141Thr)) - USP9X_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3422T>C r.(?) p.(Met1141Thr) Unknown - VUS g.41043792T>C g.41184539T>C USP9X(NM_001039590.2):c.3422T>C (p.M1141T, p.(Met1141Thr)) - USP9X_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3422T>C r.(?) p.(Met1141Thr) Unknown - likely benign g.41043792T>C g.41184539T>C USP9X(NM_001039590.2):c.3422T>C (p.M1141T, p.(Met1141Thr)) - USP9X_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3558+16T>C r.(=) p.(=) Maternal (inferred) - VUS g.41043944T>C g.41184691T>C - - USP9X_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3558+16T>C r.(=) p.(=) Maternal (inferred) - VUS g.41043944T>C g.41184691T>C - - USP9X_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.3558+16T>C r.(=) p.(=) Unknown - benign g.41043944T>C g.41184691T>C - - USP9X_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 24 c.3630C>T r.(?) p.(=) Maternal (inferred) - VUS g.41045841C>T g.41186588C>T 3609C>T (S1203S) - USP9X_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ ? - MRX;IDX 19377117-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.3650dup r.(?) p.(Ser1218ValfsTer10) Unknown - VUS g.41045861dup g.41186608dup USP9X(NM_001039590.2):c.3649_3650insT (p.?) - USP9X_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3658C>T r.(?) p.(Arg1220Cys) Unknown - likely benign g.41045869C>T g.41186616C>T - - USP9X_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3684+200_3684+202dup r.(=) p.(=) Unknown - VUS g.41046095_41046097dup g.41186842_41186844dup - - USP9X_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+201_3684+202dup r.(=) p.(=) Unknown - VUS g.41046096_41046097dup g.41186843_41186844dup - - USP9X_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+201_3684+202dup r.(=) p.(=) Unknown - VUS g.41046096_41046097dup g.41186843_41186844dup - - USP9X_000046 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+202dup r.(=) p.(=) Unknown - VUS g.41046097dup g.41186844dup - - USP9X_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+202dup r.(=) p.(=) Unknown - VUS g.41046097dup g.41186844dup - - USP9X_000045 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+202dup r.(=) p.(=) Unknown - VUS g.41046097dup g.41186844dup - - USP9X_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3684+202dup r.(=) p.(=) Maternal (inferred) - VUS g.41046097dup g.41186844dup - - USP9X_000045 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.3727C>T r.(?) p.(Gln1243Ter) Unknown - pathogenic g.41047287C>T - - - chrX_016310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3803A>G r.(?) p.(Tyr1268Cys) Unknown - VUS g.41047363A>G g.41188110A>G - - USP9X_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3815A>G r.(?) p.(Asn1272Ser) Unknown - VUS g.41048566A>G g.41189313A>G USP9X(NM_001039590.2):c.3815A>G (p.N1272S) - USP9X_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3878C>T r.(?) p.(Thr1293Ile) Unknown - VUS g.41048629C>T g.41189376C>T - - USP9X_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3930_3931insTTTTCT r.(?) p.(Lys1310_Ala1311insPheSer) Unknown - VUS g.41048681_41048682insTTTTCT g.41189428_41189429insTTTTCT - - USP9X_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3977+178T>C r.(=) p.(=) Unknown - VUS g.41048906T>C g.41189653T>C - - USP9X_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.4156G>A r.(?) p.(Ala1386Thr) Unknown - VUS g.41055914G>A g.41196661G>A USP9X(NM_001039590.2):c.4156G>A (p.(Ala1386Thr)) - USP9X_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4234-214A>G r.(=) p.(=) Maternal (inferred) - VUS g.41056403A>G g.41197150A>G - - USP9X_000020 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.4234-8T>C r.(=) p.(=) Unknown - VUS g.41056609T>C g.41197356T>C USP9X(NM_001039590.2):c.4234-8T>C (p.(=)) - USP9X_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4599A>T r.(?) p.(Ile1533=) Unknown - likely benign g.41057999A>T g.41198746A>T USP9X(NM_001039590.2):c.4599A>T (p.I1533=) - USP9X_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4668C>T r.(?) p.(Phe1556=) Unknown - likely benign g.41060377C>T - USP9X(NM_001039591.3):c.4668C>T (p.F1556=) - chrX_016311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4707T>A r.(?) p.(Asn1569Lys) Unknown - VUS g.41060416T>A g.41201163T>A USP9X(NM_001039590.2):c.4707T>A (p.(Asn1569Lys)) - USP9X_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4762A>G r.(?) p.(Ile1588Val) Unknown - VUS g.41060471A>G g.41201218A>G USP9X(NM_001039590.2):c.4762A>G (p.(Ile1588Val)) - USP9X_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 31 c.4812G>A r.(?) p.(=) Maternal (inferred) - VUS g.41060521G>A g.41201268G>A 4791G>A (K1597K) - USP9X_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ ? - MRX;IDX 19377118-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.4824+8T>A r.(=) p.(=) Unknown - likely benign g.41060541T>A g.41201288T>A - - USP9X_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.4829A>G r.(?) p.(Asn1610Ser) Unknown - VUS g.41064560A>G g.41205307A>G USP9X(NM_001039590.2):c.4829A>G (p.(Asn1610Ser)) - USP9X_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.4983C>G r.(?) p.(Tyr1661Ter) Unknown - pathogenic g.41064714C>G g.41205461C>G USP9X(NM_001039590.2):c.4983C>G (p.Y1661*) - USP9X_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.5016-93G>A r.(=) p.(=) Maternal (inferred) - VUS g.41069669G>A g.41210416G>A - - USP9X_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5016-93G>A r.(=) p.(=) Maternal (inferred) - VUS g.41069669G>A g.41210416G>A - - USP9X_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 33i c.5189+78dup r.(?) p.(=) Maternal (inferred) - likely benign g.41070013dup g.41210760dup - - USP9X_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5189+78dup r.(=) p.(=) Maternal (inferred) - VUS g.41070013dup g.41210760dup - - USP9X_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 33i c.5189+78dup r.(?) p.(=) Maternal (inferred) - likely benign g.41070013dup g.41210760dup - - USP9X_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.5189+78dup r.(=) p.(=) Maternal (inferred) - VUS g.41070013dup g.41210760dup - - USP9X_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.5340C>T r.(?) p.(Thr1780=) Unknown - likely benign g.41075160C>T - USP9X(NM_001039591.3):c.5340C>T (p.T1780=) - USP9X_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5374G>A r.(?) p.(Val1792Ile) Unknown - likely benign g.41075194G>A g.41215941G>A - - USP9X_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.5403C>T r.(?) p.(Asp1801=) Unknown - likely benign g.41075223C>T g.41215970C>T USP9X(NM_001039590.2):c.5403C>T (p.D1801=) - USP9X_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 35 c.5736T>C r.(?) p.(=) Maternal (inferred) - VUS g.41075556T>C g.41216303T>C 5715T>C (D1909D) - USP9X_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377116-Pat? PubMed: Tarpey 2009 . M ? - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.5814A>T r.(?) p.(Ser1938=) Unknown - likely benign g.41075634A>T g.41216381A>T USP9X(NM_001039590.2):c.5814A>T (p.S1938=) - USP9X_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5872A>G r.(?) p.(Thr1958Ala) Unknown - likely benign g.41075692A>G g.41216439A>G USP9X(NM_001039591.3):c.5872A>G (p.T1958A) - USP9X_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5920A>G r.(?) p.(Ile1974Val) Unknown - likely benign g.41075740A>G g.41216487A>G USP9X(NM_001039590.2):c.5920A>G (p.I1974V) - USP9X_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6084C>T r.(?) p.(Pro2028=) Unknown - likely benign g.41075904C>T g.41216651C>T USP9X(NM_001039590.2):c.6084C>T (p.(=)), USP9X(NM_001039591.3):c.6084C>T (p.P2028=) - USP9X_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.6084C>T r.(?) p.(Pro2028=) Unknown - likely benign g.41075904C>T - USP9X(NM_001039590.2):c.6084C>T (p.(=)), USP9X(NM_001039591.3):c.6084C>T (p.P2028=) - USP9X_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6085G>A r.(?) p.(Gly2029Arg) Unknown - VUS g.41075905G>A g.41216652G>A USP9X(NM_001039590.2):c.6085G>A (p.(Gly2029Arg)) - USP9X_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.6194del r.(?) p.(Gly2065Alafs*48) Unknown - likely pathogenic g.41076581del g.41217328del 6194delG - USP9X_000105 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-?/. - c.6209+6T>G r.(=) p.(=) Unknown - likely benign g.41076602T>G g.41217349T>G USP9X(NM_001039590.2):c.6209+6T>G (p.(=)), USP9X(NM_001039591.3):c.6209+6T>G - USP9X_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6209+6T>G r.(=) p.(=) Unknown - likely benign g.41076602T>G g.41217349T>G USP9X(NM_001039590.2):c.6209+6T>G (p.(=)), USP9X(NM_001039591.3):c.6209+6T>G - USP9X_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6254G>A r.(?) p.(Arg2085His) Unknown - VUS g.41077669G>A g.41218416G>A - - USP9X_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 37 c.6278T>A r.(?) p.(Leu2093His) Unknown - likely pathogenic g.41077693T>A g.41218440T>A - - USP9X_000047 - PubMed: Homan 2014 - - De novo yes - - 0 - DNA SEQ - - ID - PubMed: Homan 2014 2-generation family, 1 affected, unaffected non-carrier parents M ? France (France) - 0 - - 1 Marianne Vos (LOVD-team)
-?/. - c.6435+10C>T r.(=) p.(=) Unknown - likely benign g.41077860C>T - USP9X(NM_001039591.3):c.6435+10C>T - USP9X_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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