Unique variants in the NUS1 gene

Information The variants shown are described using the NM_138459.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 1_5 c.(-194_*1573dup) - - - pathogenic g.(117996640_118029751dup) - g.95751061_95751062ins[95751062_95751078;G;NM_138459.2:c.-194_*1573;AAAAAAAAAAAAAAAAA] - NUS1_000001 the additional copy of this sequence is inserted in SLC25A13 intron 16 on chromosome 7 PubMed: Tabata 2008, Journal: Tabata 2008 - - DUPLICATE record - - - - - Johan den Dunnen
-/. 1 - c.-16= r.(=) p.(=) - benign g.117996818T>C - - - NUS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.15C>G r.(?) p.(Tyr5*) - pathogenic g.117996848C>G - NUS1(NM_138459.5):c.15C>G (p.Y5*) - NUS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.27G>A r.(?) p.(Trp9*) - pathogenic g.117996860G>A - NUS1(NM_138459.5):c.27G>A (p.W9*) - NUS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.28_29dup r.(?) p.(Val11Glyfs*40) - likely pathogenic g.117996861_117996862dup g.117675698_117675699dup 28_29dupCG - NUS1_000005 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.51T>A r.(?) p.(Cys17*) - likely pathogenic g.117996884T>A - - - NUS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.68C>T r.(?) p.(Thr23Ile) - likely benign g.117996901C>T - NUS1(NM_138459.4):c.68C>T (p.T23I) - NUS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.75G>C r.(?) p.(Trp25Cys) - likely benign g.117996908G>C g.117675745G>C - - NUS1_000032 1 more item PubMed: Bayam 2024 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.128_141dup r.(?) p.(Val48Profs*7) - pathogenic (dominant) g.117996961_117996974dup g.117675798_117675811dup NM_138459.4:c.128_141dup (V48Pfs*7) - NUS1_000023 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.200G>C r.(?) p.(Arg67Pro) - VUS g.117997033G>C - NUS1(NM_138459.5):c.200G>C (p.(Arg67Pro)) - NUS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.271G>A r.(?) p.(Gly91Ser) - VUS g.117997104G>A - NUS1(NM_138459.5):c.271G>A (p.G91S) - NUS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.283G>T r.(?) p.(Glu95Ter) - likely pathogenic g.117997116G>T g.117675953G>T NUS1(NM_138459.5):c.283G>T (p.E95*) - NUS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.310del r.(?) p.(Val104*) ACMG pathogenic g.117997143del g.117675980del 310delG - NUS1_000012 1 more item PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - Carolina Courage
?/. 1 - c.383G>A r.(?) p.(Gly128Asp) - VUS g.117997216G>A - NUS1(NM_138459.5):c.383G>A (p.G128D) - NUS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 1i_2i c.416-1132_541+47del r.(?) p.(Gly139_Gln180del) - likely pathogenic g.118013073_118014377del g.117691910_117693214del - - NUS1_000024 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.416-1G>A r.spl? p.? - likely pathogenic g.118014204G>A g.117693041G>A - - NUS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.451G>T r.(?) p.(Glu151*) - likely pathogenic g.118014240G>T - - - NUS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.486dup r.(?) p.(Asp163Argfs*12) ACMG likely pathogenic g.118014275dup g.117693112dup - - NUS1_000028 1 more item - - - Germline yes - - - - Marketa Wayhelova
+?/. 1 - c.494C>G r.(?) p.(Ser165*) ACMG likely pathogenic g.118014283C>G - - - NUS1_000008 1 more item - - - Germline - - - - - Andreas Laner
+?/. 1 - c.611C>A r.(?) p.(Ala204Asp) - likely pathogenic g.118015263C>A - - - NUS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 2 3 c.671A>G r.(?) p.(Asp224Gly) ACMG likely pathogenic, VUS g.118015323A>G - - - NUS1_000013 ACMG: PS2, PM2_SUP, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo ? - - - - Andreas Laner, VKGL-NL_Nijmegen
+?/. 1 - c.672_673del r.(?) p.(Thr225Valfs*6) - likely pathogenic g.118015324_118015325del g.117694161_117694162del 672_673delTA - NUS1_000002 - - - - Unknown - - - - - IMGAG
+?/. 1 - c.673dup r.(?) p.(Thr225Asnfs*7) - likely pathogenic g.118015325dup - - - NUS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.674C>T r.(?) p.(Thr225Met) - likely benign g.118015326C>T - NUS1(NM_138459.3):c.674C>T (p.(Thr225Met)) - NUS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.732C>T r.(?) p.(=) - likely benign g.118024808C>T - NUS1(NM_138459.5):c.732C>T (p.(Phe244=)) - NUS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.740dup r.(?) p.(Asp248Glyfs*15) ACMG pathogenic g.118024816dup g.117703653dup 740dupT - NUS1_000011 1 more item PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - Carolina Courage
+/. 1 - c.743del r.(?) p.(Asp248Alafs*4) - likely pathogenic (dominant) g.118024819del g.117703656del 743delA - NUS1_000025 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.749_753del r.(?) p.(Thr250ArgfsTer11) - VUS g.118024825_118024829del g.117703662_117703666del NUS1(NM_138459.3):c.749_753delCATTA (p.(Thr250fs)) - NUS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.791+4A>G r.spl? p.? - likely pathogenic g.118024871A>G - NUS1(NM_138459.5):c.791+4A>G - NUS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.842T>G r.(?) p.(Leu281Arg) - VUS g.118028138T>G - NUS1(NM_138459.5):c.842T>G (p.L281R) - NUS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.875G>A r.(?) p.(Gly292Glu) - VUS g.118028171G>A - NUS1(NM_138459.5):c.875G>A (p.G292E) - NUS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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