Full data view for gene KIAA0195

Gene name changed from KIAA0195 to TMEM94
Information The variants shown are described using the NM_014738.4 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Owner     
+/. - c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - KIAA0195_000000 variants in 9 cases 5 unrelated families - - - Germline - - - - - DNA SEQ, SEQ-NG - - ? ASHG2019-P352 Stephen, ASHG2018 P352 9 affected from 5 families - - - - - - - - 9 Johan den Dunnen
-?/. - c.144+10C>T r.(=) p.(=) Unknown - likely benign g.73481638C>T - TMEM94(NM_014738.6):c.144+10C>T - KIAA0195_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.203C>T r.(?) p.(Pro68Leu) Unknown - VUS g.73482010C>T - KIAA0195(NM_014738.4):c.203C>T (p.(Pro68Leu)) - KIAA0195_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.613-6C>T r.(=) p.(=) Unknown - likely benign g.73484834C>T - TMEM94(NM_014738.6):c.613-6C>T - KIAA0195_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764+4G>A r.spl? p.? Unknown - likely benign g.73484995G>A - TMEM94(NM_014738.6):c.764+4G>A - KIAA0195_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.765-1G>C r.[765_867del, 765_796del] p.[Trp256Profs*30, Arg255Serfs*7] Paternal (inferred) - pathogenic (recessive) g.73485346G>C g.75489265G>C NM_001321148.1:c.795-1G>C - KIAA0195_000009 DNA father not available Journal: Stephen 2018 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? paper-Fam3 Journal: Stephen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States European - - - - 1 Joshi Stephen
+/. - c.765-1G>C r.(del;ins(?)) p.? Unknown - pathogenic (recessive) g.73485346G>C g.75489265G>C - - KIAA0195_000009 exon skipping and retraction PubMed: Lee 2019 ClinVar-000863414.1 - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat23 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.810del r.(?) p.(Asp270Glufs*10) Both (homozygous) - pathogenic (recessive) g.73485392del g.75489311del NM_001321148.1:c.840del - KIAA0195_000006 - Journal: Stephen 2018 - - Germline yes - - - - DNA SEQ-NG - - ? paper-Fam2 Journal: Stephen 2018 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M yes Qatar - - - - - 3 Joshi Stephen
-?/. - c.918G>A r.(?) p.(Gly306=) Unknown - likely benign g.73485707G>A g.75489626G>A KIAA0195(NM_014738.4):c.918G>A (p.(Gly306=)) - KIAA0195_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072-7C>T r.(=) p.(=) Unknown - likely benign g.73486776C>T - KIAA0195(NM_014738.4):c.1072-7C>T (p.(=)) - KIAA0195_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072-6G>A r.(=) p.(=) Unknown - likely benign g.73486777G>A - TMEM94(NM_014738.6):c.1072-6G>A - KIAA0195_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088A>G r.(?) p.(Glu363Gly) Unknown - VUS g.73486799A>G - TMEM94(NM_014738.6):c.1088A>G (p.(Glu363Gly)) - KIAA0195_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1136T>C r.(?) p.(Leu379Pro) Unknown - VUS g.73487137T>C - KIAA0195(NM_014738.4):c.1136T>C (p.(Leu379Pro)) - KIAA0195_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171G>A r.(?) p.(Gly391Arg) Unknown - VUS g.73487172G>A - TMEM94(NM_014738.6):c.1171G>A (p.(Gly391Arg)) - KIAA0195_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181C>T r.(?) p.(Ser394Leu) Unknown - VUS g.73487182C>T - TMEM94(NM_014738.6):c.1181C>T (p.(Ser394Leu)) - KIAA0195_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1383C>T r.(?) p.(Pro461=) Unknown - likely benign g.73487533C>T g.75491452C>T KIAA0195(NM_014738.4):c.1383C>T (p.(Pro461=)) - KIAA0195_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1445A>G r.(?) p.(Asn482Ser) Unknown - likely benign g.73487830A>G - KIAA0195(NM_014738.4):c.1445A>G (p.(Asn482Ser)) - KIAA0195_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1461C>T r.(?) p.(Gly487=) Unknown - likely benign g.73487846C>T - KIAA0195(NM_014738.4):c.1461C>T (p.(=)) - KIAA0195_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1522C>T r.(?) p.(Arg508Cys) Unknown - VUS g.73487907C>T - KIAA0195(NM_014738.4):c.1522C>T (p.(Arg508Cys)) - KIAA0195_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1597-5C>A r.spl? p.? Unknown - likely benign g.73488550C>A - KIAA0195(NM_014738.4):c.1597-5C>A (p.?) - KIAA0195_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1857C>T r.(?) p.(Ser619=) Unknown - likely benign g.73488815C>T - KIAA0195(NM_014738.4):c.1857C>T (p.(Ser619=)) - KIAA0195_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912+7del r.(=) p.(=) Unknown - likely benign g.73488877del - TMEM94(NM_014738.6):c.1912+7del - KIAA0195_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1923T>C r.(?) p.(Pro641=) Unknown - likely benign g.73489020T>C - KIAA0195(NM_014738.4):c.1923T>C (p.(=)) - KIAA0195_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1970_1974dup r.(?) p.(Pro659Alafs*8) Both (homozygous) - pathogenic (recessive) g.73489067_73489071dup g.75492986_75492990dup NM_001321148.1:c.2000_2004dup - KIAA0195_000005 - Journal: Stephen 2018 - - Germline yes - - - - DNA SEQ-NG - - ? paper-Fam4 Journal: Stephen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Joshi Stephen
+?/. - c.2166_2189+6del r.spl? p.? Unknown - likely pathogenic g.73489651_73489680del - TMEM94(NM_014738.6):c.2165_2189+5delTCTACCCTCTCTCGGGATCTGACAGGTGGG - KIAA0195_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2368A>G r.(?) p.(Ile790Val) Unknown - likely benign g.73489958A>G - KIAA0195(NM_014738.4):c.2368A>G (p.(Ile790Val)) - KIAA0195_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2605dup r.(?) p.(Met869Asnfs*18) Maternal (confirmed) - pathogenic (recessive) g.73490992dup g.75494911dup NM_001321148.1:c.2635dup - KIAA0195_000008 - Journal: Stephen 2018 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? paper-Fam3 Journal: Stephen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States European - - - - 1 Joshi Stephen
+/. - c.2605dup r.2605dup p.(Met869Asnfs*18) Maternal (confirmed) - pathogenic (recessive) g.73490992dup g.75494911dup - - KIAA0195_000008 - PubMed: Lee 2019 ClinVar-000863413.1 - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat23 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.2691del r.(?) p.(Ser898Alafs*10) Unknown - VUS g.73491078del - TMEM94(NM_014738.6):c.2691del (p.(Ser898AlafsTer10)) - KIAA0195_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2734C>T r.(?) p.(Arg912*) Both (homozygous) - pathogenic (recessive) g.73491370C>T g.75495289C>T NM_001321148.1:c.2764C>T - KIAA0195_000007 - Journal: Stephen 2018 - - Germline yes - - - - DNA SEQ-NG - - ? paper-Fam1 Journal: Stephen 2018 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M yes Oman - - - - - 3 Joshi Stephen
?/. - c.2936C>A r.(?) p.(Thr979Asn) Unknown - VUS g.73491716C>A - TMEM94(NM_014738.6):c.2936C>A (p.(Thr979Asn)) - KIAA0195_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3053+3C>G r.spl? p.? Unknown - VUS g.73492158C>G g.75496077C>G TMEM94(NM_001321149.1):c.3065+3C>G - KIAA0195_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3458C>T r.(?) p.(Thr1153Met) Unknown - VUS g.73493912C>T - KIAA0195(NM_014738.4):c.3458C>T (p.(Thr1153Met)) - KIAA0195_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3467del r.(?) p.(Asn1156Thrfs*84) Both (homozygous) - pathogenic (recessive) g.73493921del g.75497840del NM_001321148.1:c.3497delA - KIAA0195_000004 - Journal: Stephen 2018 - - Germline yes - - - - DNA SEQ-NG - - ? paper-Fam6 Journal: Stephen 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Egypt - - - - - 1 Joshi Stephen
?/. - c.3601C>T r.(?) p.(Arg1201Cys) Unknown - VUS g.73494367C>T - TMEM94(NM_014738.6):c.3601C>T (p.(Arg1201Cys)) - KIAA0195_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3605A>G r.(?) p.(Asn1202Ser) Unknown - VUS g.73494371A>G g.75498290A>G TMEM94(NM_014738.5):c.3605A>G (p.N1202S) - KIAA0195_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3625G>T r.(?) p.(Val1209Phe) Unknown - likely benign g.73494391G>T g.75498310G>T TMEM94(NM_014738.5):c.3625G>T (p.V1209F) - KIAA0195_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3634C>T r.(?) p.(Pro1212Ser) Unknown - likely benign g.73494400C>T g.75498319C>T TMEM94(NM_014738.5):c.3634C>T (p.P1212S) - KIAA0195_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3642C>G r.(?) p.(Asn1214Lys) Unknown - likely benign g.73494528C>G g.75498447C>G KIAA0195(NM_014738.4):c.3642C>G (p.(Asn1214Lys)) - KIAA0195_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 32i c.3998+5G>A r.3998_3999ins[gugaa;3998+6_3998+36] p.Val1334* Both (homozygous) - pathogenic (recessive) g.73495168G>A g.75499087G>A NM_001321148.1:4028+5G>A - KIAA0195_000010 - Journal: Stephen 2018 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - ? paper-Fam5 Journal: Stephen 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Joshi Stephen
+?/. - c.4014C>A r.(?) p.(Tyr1338*) Unknown - likely pathogenic g.73495358C>A - TMEM94(NM_014738.6):c.4014C>A (p.Y1338*) - KIAA0195_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1760C>T r.(=) p.(=) Unknown - VUS g.73497175C>T - CASKIN2(NM_020753.4):c.3595G>A (p.(Ala1199Thr)) - KIAA0195_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2317A>G r.(=) p.(=) Unknown - VUS g.73497732A>G g.75501651A>G CASKIN2(NM_001142643.1):c.3089T>C (p.(Leu1030Pro)) - CASKIN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2364G>C r.(=) p.(=) Unknown - VUS g.73497779G>C g.75501698G>C CASKIN2(NM_001142643.1):c.3050-8C>G (p.(=)) - CASKIN2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2677T>C r.(=) p.(=) Unknown - likely benign g.73498092T>C - CASKIN2(NM_020753.4):c.3063A>G (p.P1021=) - CASKIN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2697T>C r.(=) p.(=) Unknown - likely benign g.73498112T>C - CASKIN2(NM_020753.4):c.3043A>G (p.T1015A) - CASKIN2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2773del r.(?) p.(=) Unknown - VUS g.73498188del g.75502107del CASKIN2(NM_020753.4):c.2967del (p.(Val990LeufsTer130)) - KIAA0195_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3128G>A r.(=) p.(=) Unknown - VUS g.73498543G>A g.75502462G>A CASKIN2(NM_001142643.1):c.2366C>T (p.(Pro789Leu)) - KIAA0195_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3207C>T r.(=) p.(=) Unknown - likely benign g.73498622C>T g.75502541C>T CASKIN2(NM_001142643.1):c.2287G>A (p.(Val763Met)) - KIAA0195_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3624G>A r.(=) p.(=) Unknown - VUS g.73499039G>A - CASKIN2(NM_020753.4):c.2116C>T (p.(Arg706Trp)) - KIAA0195_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5104G>A r.(=) p.(=) Unknown - likely benign g.73500519G>A g.75504438G>A CASKIN2(NM_001142643.1):c.1111C>T (p.(His371Tyr)) - KIAA0195_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5257A>C r.(=) p.(=) Unknown - VUS g.73500672A>C g.75504591A>C CASKIN2(NM_001142643.1):c.1049T>G (p.(Leu350Arg)) - CASKIN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5558G>A r.(=) p.(=) Unknown - likely benign g.73500973G>A g.75504892G>A CASKIN2(NM_001142643.1):c.866C>T (p.(Pro289Leu)) - KIAA0195_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6319_*6320insTC r.(=) p.(=) Unknown - VUS g.73501734_73501735insTC g.75505653_75505654insTC CASKIN2(NM_001142643.1):c.590-3_590-2insGA (p.?) - KIAA0195_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6563A>G r.(=) p.(=) Unknown - likely benign g.73501978A>G - CASKIN2(NM_020753.5):c.759T>C (p.(Tyr253=)) - KIAA0195_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8357dup r.(?) p.(=) Unknown - likely benign g.73503772dup g.75507691dup CASKIN2(NM_001142643.1):c.-100-8dupC (p.(=)) - KIAA0195_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*17227A>T r.(=) p.(=) Unknown - likely pathogenic g.73512642A>T g.75516561A>T TSEN54(NM_207346.3):c.1A>T (p.M1?) - KIAA0195_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17229_*17234dup r.(=) p.(=) Unknown - VUS g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17229_*17234dup r.(=) p.(=) Unknown - VUS g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17229_*17234dup r.(=) p.(=) Unknown - benign g.73512644_73512649dup g.75516563_75516568dup TSEN54(NM_207346.2):c.2_3insGGAGCC (p.(Met1_Glu2insGluPro)), TSEN54(NM_207346.2):c.3_8dupGGAGCC (p.E6_P7dup), TSEN54(NM_207346.3):c.3_8dupGGAGCC ...) - TSEN54_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17238G>T r.(=) p.(=) Unknown - benign g.73512653G>T g.75516572G>T TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17238G>T r.(=) p.(=) Unknown - benign g.73512653G>T g.75516572G>T TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17238G>T r.(=) p.(=) Unknown - benign g.73512653G>T - TSEN54(NM_207346.3):c.12G>T (p.E4D) - TSEN54_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17271G>T r.(=) p.(=) Unknown - likely benign g.73512686G>T - TSEN54(NM_207346.2):c.45G>T (p.G15=) - KIAA0195_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17438C>T r.(=) p.(=) Unknown - VUS g.73512853C>T g.75516772C>T TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L) - TSEN54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17438C>T r.(=) p.(=) Unknown - VUS g.73512853C>T - TSEN54(NM_207346.2):c.83C>T (p.S28L), TSEN54(NM_207346.3):c.83C>T (p.S28L) - TSEN54_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17469T>G r.(=) p.(=) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17469T>G r.(=) p.(=) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17469T>G r.(=) p.(=) Unknown - benign g.73512884T>G g.75516803T>G TSEN54(NM_207346.2):c.114T>G (p.H38Q), TSEN54(NM_207346.3):c.114T>G (p.H38Q) - TSEN54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17498C>T r.(=) p.(=) Unknown - VUS g.73512913C>T g.75516832C>T TSEN54(NM_207346.2):c.143C>T (p.(Ser48Leu)) - KIAA0195_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17520G>C r.(=) p.(=) Unknown - likely benign g.73512935G>C g.75516854G>C TSEN54(NM_207346.2):c.165G>C (p.L55=) - TSEN54_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17570A>C r.(=) p.(=) Unknown - VUS g.73512985A>C - TSEN54(NM_207346.3):c.215A>C (p.E72A) - KIAA0195_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17593C>T r.(=) p.(=) Unknown - likely benign g.73513008C>T g.75516927C>T TSEN54(NM_207346.2):c.221+17C>T - TSEN54_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17599T>G r.(=) p.(=) Unknown - benign g.73513014T>G g.75516933T>G TSEN54(NM_207346.2):c.221+23T>G - TSEN54_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17657C>T r.(=) p.(=) Unknown - benign g.73513072C>T g.75516991C>T TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T - TSEN54_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17657C>T r.(=) p.(=) Unknown - benign g.73513072C>T g.75516991C>T TSEN54(NM_207346.2):c.222-18C>T, TSEN54(NM_207346.3):c.222-18C>T - TSEN54_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17741G>A r.(=) p.(=) Unknown - benign g.73513156G>A g.75517075G>A TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A - TSEN54_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17741G>A r.(=) p.(=) Unknown - benign g.73513156G>A g.75517075G>A TSEN54(NM_207346.2):c.285+3G>A, TSEN54(NM_207346.3):c.285+3G>A - TSEN54_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17770C>A r.(=) p.(=) Unknown - benign g.73513185C>A g.75517104C>A TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A - KIAA0195_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17770C>A r.(=) p.(=) Unknown - benign g.73513185C>A g.75517104C>A TSEN54(NM_207346.2):c.285+32C>A, TSEN54(NM_207346.3):c.285+32C>A - KIAA0195_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17874C>G r.(=) p.(=) Unknown - benign g.73513289C>G g.75517208C>G TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=) - KIAA0195_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17874C>G r.(=) p.(=) Unknown - benign g.73513289C>G g.75517208C>G TSEN54(NM_207346.2):c.333C>G (p.R111=), TSEN54(NM_207346.3):c.333C>G (p.R111=) - KIAA0195_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18204C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18204C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18204C>A r.(=) p.(=) Unknown - benign g.73513619C>A g.75517538C>A TSEN54(NM_207346.2):c.370-19C>A, TSEN54(NM_207346.3):c.370-19C>A - KIAA0195_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18262A>C r.(=) p.(=) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18262A>C r.(=) p.(=) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18262A>C r.(=) p.(=) Unknown - benign g.73513677A>C g.75517596A>C TSEN54(NM_207346.2):c.409A>C (p.I137L), TSEN54(NM_207346.3):c.409A>C (p.I137L) - TSEN54_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18306C>T r.(=) p.(=) Unknown - likely benign g.73513721C>T g.75517640C>T TSEN54(NM_207346.2):c.453C>T (p.T151=) - TSEN54_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18338C>T r.(=) p.(=) Unknown - likely benign g.73513753C>T g.75517672C>T TSEN54(NM_207346.2):c.468+17C>T - TSEN54_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19652dup r.(?) p.(=) Unknown - benign g.73515067dup g.75518986dup TSEN54(NM_207346.3):c.469-9dupT - KIAA0195_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19653C>T r.(=) p.(=) Unknown - likely benign g.73515068C>T g.75518987C>T TSEN54(NM_207346.2):c.469-8C>T (p.(=)) - KIAA0195_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19658G>T r.(=) p.(=) Unknown - likely benign g.73515073G>T g.75518992G>T TSEN54(NM_207346.2):c.469-3G>T - KIAA0195_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19702A>T r.(=) p.(=) Unknown - likely benign g.73515117A>T - TSEN54(NM_207346.2):c.510A>T (p.R170=) - KIAA0195_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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