All variants in the C17orf107 gene

Information The variants shown are described using the NM_001145536.1 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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Effect     

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     
?/. - c.-4599C>T r.(?) p.(=) - VUS g.4798459C>T - MINK1(NM_153827.5):c.3007C>T (p.(Arg1003Trp)) - C17orf107_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-3233G>A r.(?) p.(=) - likely benign g.4799825G>A g.4896530G>A MINK1(NM_001321236.1):c.3441G>A (p.T1147=) - C17orf107_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-2540G>A r.(?) p.(=) - VUS g.4800518G>A - MINK1(NM_001321236.1):c.3659G>A (p.R1220H) - C17orf107_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-1092G>A r.(?) p.(=) - benign g.4801966G>A g.4898671G>A - - CHRNE_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-1088G>A r.(?) p.(=) - benign g.4801970G>A g.4898675G>A - - CHRNE_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-1070A>G r.(?) p.(=) - benign g.4801988A>G g.4898693A>G - - CHRNE_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-1064C>T r.(?) p.(=) - benign g.4801994C>T g.4898699C>T - - CHRNE_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-1033T>C r.(?) p.(=) - benign g.4802025T>C g.4898730T>C - - CHRNE_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-1011G>A r.(?) p.(=) - likely benign g.4802047G>A g.4898752G>A CHRNE(NM_000080.3):c.1466C>T (p.(Pro489Leu)) - C17orf107_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-1008G>A r.(?) p.(=) - VUS g.4802050G>A - CHRNE(NM_000080.4):c.1463C>T (p.(Ala488Val)) - C17orf107_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-991C>T r.(?) p.(=) - likely benign g.4802067C>T - CHRNE(NM_000080.4):c.1446G>A (p.(Val482=)) - C17orf107_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-971del r.(?) p.(=) - pathogenic g.4802087del g.4898792del CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30) - CHRNE_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-971del r.(?) p.(=) - VUS g.4802087del - CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30) - CHRNE_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.-971del r.(?) p.(=) - pathogenic g.4802087del - CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30) - CHRNE_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-965A>C r.(?) p.(=) - VUS g.4802093A>C g.4898798A>C CHRNE(NM_000080.4):c.1420T>G (p.F474V) - CHRNE_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-961G>A r.(?) p.(=) - likely benign g.4802097G>A - CHRNE(NM_000080.4):c.1416C>T (p.L472=) - C17orf107_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-947C>G r.(?) p.(=) - likely benign g.4802111C>G g.4898816C>G CHRNE(NM_000080.4):c.1402G>C (p.(Val468Leu)) - CHRNE_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-947C>G r.(?) p.(=) - benign g.4802111C>G - CHRNE(NM_000080.4):c.1402G>C (p.(Val468Leu)) - CHRNE_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.-895dup r.(?) p.(=) - likely pathogenic g.4802163dup g.4898868dup CHRNE(NM_000080.3):c.1353dupG (p.(Asn452fs)) - CHRNE_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-895dup r.(?) p.(=) - pathogenic g.4802163dup g.4898868dup CHRNE(NM_000080.3):c.1353dupG (p.(Asn452fs)) - CHRNE_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-741T>C r.(?) p.(=) - benign g.4802317T>C g.4899022T>C - - CHRNE_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-729G>A r.(?) p.(=) - benign g.4802329G>A g.4899034G>A - - CHRNE_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-718T>A r.(?) p.(=) - VUS g.4802340T>A - CHRNE(NM_000080.4):c.1282A>T (p.(Asn428Tyr)) - C17orf107_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.-533_-527dup r.(?) p.(=) - pathogenic g.4802525_4802531dup g.4899230_4899236dup - - CHRNE_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-526C>T r.(?) p.(=) - VUS g.4802532C>T - CHRNE(NM_000080.4):c.1180G>A (p.(Val394Met)) - C17orf107_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-515C>G r.(?) p.(=) - VUS g.4802543C>G - CHRNE(NM_000080.4):c.1169G>C (p.R390P) - C17orf107_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.-465C>A r.(?) p.(=) - likely benign g.4802593C>A g.4899298C>A CHRNE(NM_000080.4):c.1119G>T (p.S373=) - C17orf107_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.-446G>T r.(?) p.(=) - pathogenic g.4802612G>T g.4899317G>T - - CHRNE_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-417_-415dup r.(?) p.(=) - VUS g.4802641_4802643dup - CHRNE(NM_000080.4):c.1077_1079dupGCC (p.P360dup) - C17orf107_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-409C>G r.(?) p.(=) - VUS g.4802649C>G - CHRNE(NM_000080.4):c.1063G>C (p.(Gly355Arg)) - C17orf107_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.-378C>G r.(?) p.(=) - likely pathogenic g.4802680C>G - CHRNE(NM_000080.4):c.1033-1G>C - CHRNE_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.-373G>A r.(?) p.(=) - benign g.4802685G>A g.4899390G>A - - CHRNE_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-229G>A r.(?) p.(=) - benign g.4802829G>A - CHRNE(NM_000080.4):c.966C>T (p.(Cys322=)) - C17orf107_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-167A>G r.(?) p.(=) - VUS g.4802891A>G g.4899596A>G - - CHRNE_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.*245G>C r.(=) p.(=) - benign g.4804073G>C g.4900778G>C - - C17orf107_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*281A>G r.(=) p.(=) - VUS g.4804109A>G - CHRNE(NM_000080.3):c.896T>C (p.(Leu299Pro)), CHRNE(NM_000080.4):c.896T>C (p.L299P) - C17orf107_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*281A>G r.(=) p.(=) - VUS g.4804109A>G - CHRNE(NM_000080.3):c.896T>C (p.(Leu299Pro)), CHRNE(NM_000080.4):c.896T>C (p.L299P) - C17orf107_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.*312G>A r.(=) p.(=) - pathogenic g.4804140G>A g.4900845G>A - - CHRNE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*327T>G r.(=) p.(=) - pathogenic g.4804155T>G g.4900860T>G - - C17orf107_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*538G>A r.(=) p.(=) - pathogenic g.4804366G>A - CHRNE(NM_000080.3):c.721C>T (p.(Leu241Phe)) - CHRNE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*538G>A r.(=) p.(=) - pathogenic g.4804366G>A - CHRNE(NM_000080.3):c.721C>T (p.(Leu241Phe)) - CHRNE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*588C>T r.(=) p.(=) - VUS g.4804416C>T - CHRNE(NM_000080.4):c.671G>A (p.(Gly224Asp)) - C17orf107_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*990A>T r.(=) p.(=) - likely pathogenic g.4804818A>T - - - C17orf107_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.*1012A>G r.(=) p.(=) - VUS g.4804840A>G g.4901545A>G CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr)) - C17orf107_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*1012A>G r.(=) p.(=) - VUS g.4804840A>G - CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr)) - C17orf107_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*1012A>G r.(=) p.(=) - VUS g.4804840A>G - CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr)) - C17orf107_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*1084G>T r.(=) p.(=) - VUS g.4804912G>T - CHRNE(NM_000080.4):c.509C>A (p.(Thr170Lys)) - C17orf107_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*1411G>A r.(=) p.(=) - VUS g.4805239G>A - CHRNE(NM_000080.3):c.488C>T (p.(Ser163Leu)) - CHRNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*1561G>A r.(=) p.(=) - benign g.4805389G>A g.4902094G>A - - C17orf107_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*1666G>A r.(=) p.(=) - likely benign g.4805494G>A - CHRNE(NM_000080.4):c.344+18C>T - CHRNE_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.*1930A>C r.(=) p.(=) - VUS g.4805758A>C g.4902463A>C - - C17orf107_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.*2174A>G r.(=) p.(=) - pathogenic g.4806002A>G - CHRNE(NM_000080.3):c.103T>C (p.(Tyr35His)) - CHRNE_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*2224C>A r.(=) p.(=) - benign g.4806052C>A g.4902757C>A CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val)) - C17orf107_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2224C>A r.(=) p.(=) - likely benign g.4806052C>A g.4902757C>A CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val)) - C17orf107_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*2224C>A r.(=) p.(=) - likely benign g.4806052C>A g.4902757C>A - - C17orf107_000002 47 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4790235 Germline - 47/2795 individuals - - - Mohammed Faruq
-/. - c.*2486G>A r.(=) p.(=) - benign g.4806314G>A g.4903019G>A CHRNE(NM_000080.3):c.45C>T (p.(Leu15=)) - CHRNE_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*2486G>A r.(=) p.(=) - likely benign g.4806314G>A - CHRNE(NM_000080.3):c.45C>T (p.(Leu15=)) - CHRNE_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*2494C>T r.(=) p.(=) - likely pathogenic g.4806322C>T - CHRNE(NM_000080.4):c.37G>A (p.(Gly13Arg)) - CHRNE_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*2525T>C r.(=) p.(=) - likely benign g.4806353T>C - CHRNE(NM_000080.4):c.6A>G (p.A2=) - C17orf107_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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