Unique variants in gene APTX

Information The variants shown are described using the NM_175073.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.-111+16G>T benign r.(=) p.(=) g.33001549C>A - APTX(NR_036579.1):n.26G>T - APTX_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-4-15T>C likely benign r.(=) p.(=) g.32989908A>G - APTX(NM_001195249.1):c.-4-15T>C - APTX_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 _1_9_ c.0 pathogenic (recessive) r.0?, r.0 p.0?, p.0 g.(?_32973495)_(32989890_?)del, g.32858130_33025183del - complete APTX deletion, -23729_*115366del155489 - APTX_000030, APTX_000042 - PubMed: Amouri 2004, PubMed: Yoon 2009, PubMed: van Minkelen 2015 - - Germline yes - - - - Rick van Minkelen
+/+ 1 2i_9_ c.5+1225_(*892_?)del pathogenic (recessive) r.? p.0? g.32928505_32988660del - 5+1225_*44991del67512 - APTX_000041 - PubMed: van Minkelen 2015 - - Germline yes - - - - Rick van Minkelen
?/. 1 - c.1A>G VUS r.(?) p.? g.32989889T>C - APTX(NM_001195249.1):c.1A>G (p.M1?) - APTX_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/-? 2 3 c.18G>T VUS, likely benign r.(?) p.(Trp6Cys) g.32989872C>A - APTX(NM_175073.2):c.18G>T (p.W6C) - APTX_000067, APTX_000045 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Rick van Minkelen
-?/. 1 - c.38G>A likely benign r.(?) p.(Arg13Gln) g.32989852C>T - APTX(NM_001195249.1):c.38G>A (p.R13Q) - APTX_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.125G>T VUS r.(?) p.(Arg42Leu) g.32989765C>A - APTX(NM_175073.2):c.125G>T (p.R42L) - APTX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 3i c.134-61A>G - r.(=) p.(=) g.32988188T>C g.32988190T>C - - APTX_000051 - - - - Germline - - - - - Andreas Laner
?/?, ?/. 2 5 c.203T>C VUS r.(?) p.(Ile68Thr) g.32987822A>G - APTX(NM_175073.2):c.203T>C (p.I68T) - APTX_000046, APTX_000083 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL
-?/., -?/-? 2 5 c.211G>T likely benign r.(?) p.(Val71Phe) g.32987814C>A - APTX(NM_175073.2):c.211G>T (p.V71F) - APTX_000082, APTX_000036 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Rick van Minkelen
-?/. 1 - c.234G>A likely benign r.(?) p.(=) g.32987791C>T - APTX(NM_001195249.1):c.234G>A (p.E78=) - APTX_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -?/-?, -/. 3 5 c.318C>T likely benign, benign r.(?) p.(=) g.32987707G>A - APTX(NM_001195249.1):c.318C>T (p.=) - APTX_000080, APTX_000044 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Rick van Minkelen, VKGL-NL_AMC
-?/. 1 - c.347A>G likely benign r.(?) p.(Lys116Arg) g.32987678T>C - APTX(NM_001195249.1):c.347A>G (p.K116R) - APTX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.378G>A benign r.(?) p.(=) g.32987647C>T - APTX(NM_001195249.1):c.378G>A (p.=) - APTX_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/-?, -/. 5 5 c.431C>A likely benign, benign r.(?) p.(Ser144Tyr) g.32987594G>T - APTX(NM_001195249.1):c.431C>A (p.S144Y) - APTX_000035, APTX_000079 probably not pathogenic, VKGL data sharing initiative Nederland van Minkelen et al. In preparation - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL_AMC, VKGL-NL_Utrecht
-?/-?, -/. 2 5 c.457A>G likely benign, benign r.(?) p.(Lys153Glu) g.32987568T>C - APTX(NM_001195249.1):c.457A>G (p.K153E) - APTX_000001, APTX_000078 VKGL data sharing initiative Nederland PubMed: Baba 2007 - - Germline, CLASSIFICATION record - - - - - Sergio Piñeiro, VKGL-NL
+/+ 1 5 c.477del pathogenic (recessive) r.(?) p.(Lys161Argfs*11) g.32987548del - 477delC - APTX_000025 - PubMed: Castellotti 2011 - - Germline - - - - - Sergio Piñeiro
-/. 1 - c.484-25G>T benign r.(=) p.(=) g.32986053C>A - APTX(NM_001195249.1):c.484-25G>T - APTX_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/-, -?/. 2 5i c.484-25_484-6del benign, likely benign r.(?), r.(=) p.?, p.(=) g.32986034_32986053del, g.32986041_32986060del - 484-31_484-12del20, APTX(NM_001195248.1):c.526-25_526-6del (p.(=)) - APTX_000027 VKGL data sharing initiative Nederland PubMed: Moreira 2001 - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL
-/-, -/., -?/. 4 5i c.484-25_484-5del benign, likely benign r.(?), r.spl? p.? g.32986033_32986053del, g.32986041_32986061del - 484-25_484-5del21, APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT - APTX_000032, APTX_000072 delGTTTTTTTTTTTGTTTTTTTT, VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 3 - c.484-25_484-4del benign, likely benign r.spl? p.? g.32986041_32986062del - APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT - APTX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.484-21_484-20insGT benign r.(=) p.(=) g.32986049_32986050insCA - APTX(NM_001195249.1):c.484-21_484-20insGT - APTX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.484-13del likely benign r.(=) p.(=) g.32986041del - APTX(NM_001195249.1):c.484-25_484-13delGTTTTTTTTTTTGinsGTTTTTTTTTTT - APTX_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/., -/. 3 - c.484-13G>T likely benign, benign r.(=) p.(=) g.32986041C>A - APTX(NM_001195249.1):c.484-13G>T (p.?) - APTX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.484-12T>G benign r.(=) p.(=) g.32986040A>C - APTX(NM_001195249.1):c.484-12T>G - APTX_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Utrecht
-?/., -/. 2 - c.484-12_484-11insG likely benign, benign r.(=) p.(=) g.32986039_32986040insC - APTX(NM_001195249.1):c.484-12_484-11insG - APTX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 1 - c.484-7_484-6insGTTTTT benign r.(=) p.(=) g.32986039_32986040insCAAAAA - APTX(NM_001195249.1):c.484-7_484-6insGTTTTT - APTX_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.484-5_484-4insGTTTTTTT benign r.spl? p.? g.32986039_32986040insCAAAAAAA - APTX(NM_001195249.1):c.484-5_484-4insGTTTTTTT - APTX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/., -?/. 3 - c.484-3del benign, likely benign r.spl? p.? g.32986040del - APTX(NM_001195249.1):c.484-3delT - APTX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.484-3T>C likely benign r.spl? p.? g.32986031A>G - APTX(NM_001195248.1):c.526-3T>C (p.?) - APTX_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.484-3_484-2insTTTTTTTTGTTTTTTTTT benign r.spl? p.? g.32986039_32986040insCAAAAAAAAAAAAAAAAA - APTX(NM_001195249.1):c.484-3_484-2insTTTTTTTTGTTTTTTTTT - APTX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 6 c.541C>T pathogenic (recessive) r.(?) p.(Gln181*) g.32985971G>A - - - APTX_000026 - PubMed: Castellotti 2011 - - Germline - - - - - Sergio Piñeiro
-/-, -/. 2 6i c.543+30A>C benign r.(?), r.(=) p.?, p.(=) g.32985939T>G - APTX(NM_175073.2):c.543+30A>C - APTX_000034, APTX_000064 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL
+/., +/+ 4 7 c.559C>T pathogenic, pathogenic (recessive) r.(?) p.(Gln187*) g.32984840G>A - APTX(NM_001195249.1):c.559C>T (p.Q187*) - APTX_000063, APTX_000038 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Rick van Minkelen, VKGL-NL_Utrecht
+/+ 1 7 c.589A>C pathogenic (recessive) r.(?) p.(Lys197Gln) g.32984810T>G - - - APTX_000003 - PubMed: Tranchant 2003 - - Germline - - - - - Sergio Piñeiro
+/+, +/. 3 7 c.593C>T pathogenic (recessive), pathogenic r.(?) p.(Ala198Val) g.32984806G>A - APTX(NM_175073.2):c.593C>T (p.A198V) - APTX_000005, APTX_000062 VKGL data sharing initiative Nederland PubMed: Le Ber 2003 - - Germline, CLASSIFICATION record - - - - - Sergio Piñeiro, VKGL-NL, Rick van Minkelen
+/+, +/., ?/. 4 7 c.596G>A pathogenic (recessive), pathogenic r.(?) p.(Arg199His) g.32984803C>T g.32984805C>T APTX(NM_001195249.1):c.596G>A (p.R199H) - APTX_000006 no maternal variant identified, VKGL data sharing initiative Nederland PubMed: Moreira 2001 - - Germline, CLASSIFICATION record - - - - - Sergio Piñeiro, VKGL-NL, Rick van Minkelen, Gerard C.P. Schaafsma
+/+ 1 7 c.601del pathogenic (recessive) r.(?) p.(His201Ilefs*13) g.32984798del - 643delC - APTX_000029 - PubMed: Nouri et al 2012 - - Germline - - - - - Rick van Minkelen
+/+ 1 7 c.602A>G pathogenic (recessive) r.(?) p.(His201Arg) g.32984797T>C - nt 80 (A>G) - APTX_000007 - PubMed: Shimazaki 2002 - - Germline - - - - - Sergio Piñeiro
+/+ 1 7 c.603T>A pathogenic (recessive) r.(?) p.(His201Gln) g.32984796A>T - - - APTX_000008 - PubMed: Criscuolo 2004 - - Germline - - - - - Sergio Piñeiro
+/+ 4 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu) g.32984782G>A - - - APTX_000009 - PubMed: Moreira 2001, PubMed: Date 2001 - - Germline - - - - - Sergio Piñeiro
+/+ 1 7 c.668T>C pathogenic (recessive) r.(?) p.(Leu223Pro) g.32984731A>G - - - APTX_000010 - PubMed: Criscuolo 2005 - - Germline - - - - - Sergio Piñeiro
+/? 1 7 c.683A>G pathogenic (recessive) r.(?) p.(His228Arg) g.32984716T>C - - - APTX_000011 - PubMed: Fogel 2006 - - Germline - - - - - Sergio Piñeiro
+/+ 5 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) g.32984710dup - 689insT, 690insT, 689dupT - APTX_000012 - PubMed: Moreira 2001, PubMed: Date 2001 - - Germline - - - - - Sergio Piñeiro
+/+ 1 7 c.689T>G pathogenic (recessive) r.(?) p.(Val230Gly) g.32984710A>C - - - APTX_000013 - PubMed: Ferrarini 2007 - - Germline - - - - - Sergio Piñeiro
+/+ 1 7 c.692G>A pathogenic (recessive) r.(?) p.(Gly231Glu) g.32984707C>T - - - APTX_000014 - PubMed: Ito 2005 - - Germline - - - - - Sergio Piñeiro
+/? 1 7 c.725G>A pathogenic (recessive) r.(?) p.(Ser242Asn) g.32984674C>T - - - APTX_000015 - PubMed: Baba 2007 - - Germline - - - - - Sergio Piñeiro
-?/. 1 - c.731T>C likely benign r.(?) p.(Leu244Pro) g.32984668A>G - APTX(NM_001195249.1):c.731T>C (p.L244P) - APTX_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.734G>A VUS r.(?) p.(Arg245His) g.32984665C>T - APTX(NM_175073.2):c.734G>A (p.R245H) - APTX_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+, +/. 3 7 c.739C>T pathogenic (recessive), pathogenic r.(?) p.(Arg247*) g.32984660G>A - APTX(NM_001195249.1):c.739C>T (p.R247*) - APTX_000016, APTX_000059 VKGL data sharing initiative Nederland PubMed: Mosesso 2005 - - Germline, CLASSIFICATION record - - - - - Sergio Piñeiro, VKGL-NL, Rick van Minkelen
-?/., ?/?, ?/. 4 7 c.742T>A likely benign, VUS r.(?) p.(Leu248Met) g.32984657A>T - 1 more item - APTX_000058, APTX_000037 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015, van Minkelen et al. In preparation - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Rick van Minkelen, VKGL-NL_Rotterdam
?/. 1 - c.762G>A VUS r.(?) p.(=) g.32984637C>T - APTX(NM_001195249.1):c.762G>A (p.P254=) - APTX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.770G>A likely benign r.(?) p.(Ser257Asn) g.32984629C>T - 1 more item - APTX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 2 7 c.770+1G>A pathogenic (recessive) r.(?) p.? g.32984628C>T - - - APTX_000020 - PubMed: Le Ber 2003 - - Germline - - - - - Sergio Piñeiro
-/. 1 - c.771-13_771-12dup benign r.(=) p.(=) g.32974578_32974579dup - APTX(NM_001195249.1):c.771-12_771-11insTT - APTX_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/- 1 7i c.771-12del benign r.(?) p.? g.32974571del - 771-11delT - APTX_000028 - PubMed: Moreira 2001 - - Germline - - - - - Rick van Minkelen
-/-, -?/., -/. 4 7i c.771-12dup benign, likely benign r.(?), r.(=) p.?, p.(=) g.32974571dup, g.32974579dup - 771-12dupT, APTX(NM_001195249.1):c.771-12dupT - APTX_000033 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/? 1 8 c.781C>T VUS r.(?) p.(Leu261Phe) g.32974549G>A - - - APTX_000017 - PubMed: H'mida-Ben Brahim 2011 - - Germline - - - - - Sergio Piñeiro
+/+ 1 8 c.788T>G pathogenic (recessive) r.(?) p.(Val263Gly) g.32974542A>C - - - APTX_000018 - PubMed: Date 2001 - - Germline - - - - - Sergio Piñeiro
+/? 2 8 c.800A>G pathogenic (recessive) r.(?) p.(Asp267Gly) g.32974530T>C - - - APTX_000019 - PubMed: Le Ber 2003 - - Germline - - - - - Sergio Piñeiro
+/+ 2 8 c.835T>C pathogenic (recessive) r.(?) p.(Trp279Arg) g.32974495A>G - - - APTX_000021 - PubMed: Le Ber 2003 - - Germline - - - - - Sergio Piñeiro
+/., +/+ 18 8 c.837G>A pathogenic (recessive), pathogenic, ACMG: 5 r.(?) p.(Trp279*) g.32974493C>T g.32974495C>T APTX(NM_175073.2):c.837G>A (p.(Trp279*)) - APTX_000004 VKGL data sharing initiative Nederland, ACMG grading: PM2,PM3,PVS1,PP5 PubMed: Moreira 2001 - rs104894103 Germline, CLASSIFICATION record - - - - - Andreas Laner, Sergio Piñeiro, Rick van Minkelen, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 1 8 c.841del pathogenic (recessive) r.(?) p.(Ser281Leufs*8) g.32974489del - 840delT - APTX_000022 - PubMed: Date 2001, PubMed: Seidle et al 2005 - - Germline - - - - - Sergio Piñeiro
?/., ?/? 2 8 c.847A>G VUS r.(?) p.(Asn283Asp) g.32974483T>C - APTX(NM_175073.2):c.847A>G (p.N283D) - APTX_000055, APTX_000039 VKGL data sharing initiative Nederland PubMed: Avan Minkelen 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Rick van Minkelen
-/. 1 - c.875-60del benign r.(=) p.(=) g.32973727del - APTX(NM_001195249.1):c.875-60delT - APTX_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 8i c.875-1G>A pathogenic (recessive) r.spl p.? g.32973651C>T - - - APTX_000085 - PubMed: Amouri 2004 - - Germline yes - - - - Johan den Dunnen
+/+ 1 9 c.892C>T pathogenic (recessive) r.(?) p.(Gln298*) g.32973633G>A - - - APTX_000023 - PubMed: Crimella 2011 - - Germline - - - - - Sergio Piñeiro
+/+ 2 9 c.916C>T pathogenic (recessive) r.(?) p.(Arg306*) g.32973609G>A - - - APTX_000024 - PubMed: Castellotti 2011 - - Germline - - - - - Sergio Piñeiro
-?/. 1 - c.918A>G likely benign r.(?) p.(=) g.32973607T>C - APTX(NM_001195249.1):c.918A>G (p.R306=) - APTX_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 9 c.940_956del pathogenic (recessive) r.(?) p.(Lys314Serfs*2) g.32973569_32973585del - 940_956del17 - APTX_000043 - PubMed: Avan Minkelen 2015 - - Germline - - - - - Rick van Minkelen
-/-, -/., -?/. 4 9 c.971A>T benign, likely benign r.(?) p.(Gln324Leu) g.32973554T>A - APTX(NM_001195249.1):c.971A>T (p.Q324L) - APTX_000031, APTX_000052 VKGL data sharing initiative Nederland PubMed: van Minkelen 2015 - - Germline, CLASSIFICATION record - - - - - Rick van Minkelen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Groningen
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