Full data view for gene APTX

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

145 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-111+16G>T benign r.(=) p.(=) Unknown g.33001549C>A - APTX(NR_036579.1):n.26G>T - APTX_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-4-15T>C likely benign r.(=) p.(=) Unknown g.32989908A>G - APTX(NM_001195249.1):c.-4-15T>C - APTX_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_9_ c.0 pathogenic (recessive) r.0? p.0? Both (homozygous) g.(?_32973495)_(32989890_?)del - complete APTX deletion - APTX_000030 - PubMed: Amouri 2004 - - Germline yes - - 0 - DNA SEQ, Southern blood - EAOH 15365154-Fam1 PubMed: Amouri 2004 family, 5 affected (2F, 3M), unaffacted parents F;M - Tunisia - - 0 - - 5 Rick van Minkelen
+/+ _1_9_ c.0 pathogenic (recessive) r.0 p.0 Both (homozygous) g.32858130_33025183del - -23729_*115366del155489 - APTX_000042 - PubMed: Yoon 2009, PubMed: van Minkelen 2015 - - Germline yes - - 0 - DNA arrayCNV, MLPA, SEQ EDTA blood - EAOH 26285866-Pat2 PubMed: Yoon 2009, PubMed: van Minkelen 2015 2-generation family, 1affected, unaffected parents F yes Pakistan - - 0 - - 1 Rick van Minkelen
+/+ 2i_9_ c.5+1225_(*892_?)del pathogenic (recessive) r.? p.0? Both (homozygous) g.32928505_32988660del - 5+1225_*44991del67512 - APTX_000041 - PubMed: van Minkelen 2015 - - Germline yes - - 0 - DNA SEQ, MLPA, arrayCGH, PCR blood - EAOH 26285866-Pat1 PubMed: van Minkelen 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Morocco - - 0 - - 1 Rick van Minkelen
?/. - c.1A>G VUS r.(?) p.? Unknown g.32989889T>C - APTX(NM_001195249.1):c.1A>G (p.M1?) - APTX_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18G>T VUS r.(?) p.(Trp6Cys) Unknown g.32989872C>A - APTX(NM_175073.2):c.18G>T (p.W6C) - APTX_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 3 c.18G>T likely benign r.(?) p.(Trp6Cys) Unknown g.32989872C>A - - - APTX_000045 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat62385 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
-?/. - c.38G>A likely benign r.(?) p.(Arg13Gln) Unknown g.32989852C>T - APTX(NM_001195249.1):c.38G>A (p.R13Q) - APTX_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.125G>T VUS r.(?) p.(Arg42Leu) Unknown g.32989765C>A - APTX(NM_175073.2):c.125G>T (p.R42L) - APTX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.134-61A>G - r.(=) p.(=) Parent #1 g.32988188T>C g.32988190T>C - - APTX_000051 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.203T>C VUS r.(?) p.(Ile68Thr) Unknown g.32987822A>G - APTX(NM_175073.2):c.203T>C (p.I68T) - APTX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5 c.203T>C VUS r.(?) p.(Ile68Thr) Unknown g.32987822A>G - - - APTX_000046 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat61291 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
-?/. - c.211G>T likely benign r.(?) p.(Val71Phe) Unknown g.32987814C>A - APTX(NM_175073.2):c.211G>T (p.V71F) - APTX_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.211G>T likely benign r.(?) p.(Val71Phe) Unknown g.32987814C>A - - - APTX_000036 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat4305 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
-?/. - c.234G>A likely benign r.(?) p.(=) Unknown g.32987791C>T - APTX(NM_001195249.1):c.234G>A (p.E78=) - APTX_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.318C>T likely benign r.(?) p.(=) Unknown g.32987707G>A - APTX(NM_001195249.1):c.318C>T (p.=) - APTX_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.318C>T likely benign r.(?) p.(=) Unknown g.32987707G>A - - - APTX_000044 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat53383 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
-/. - c.318C>T benign r.(?) p.(=) Unknown g.32987707G>A - APTX(NM_001195249.1):c.318C>T (p.=) - APTX_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347A>G likely benign r.(?) p.(Lys116Arg) Unknown g.32987678T>C - APTX(NM_001195249.1):c.347A>G (p.K116R) - APTX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378G>A benign r.(?) p.(=) Unknown g.32987647C>T - APTX(NM_001195249.1):c.378G>A (p.=) - APTX_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.431C>A benign r.(?) p.(Ser144Tyr) Unknown g.32987594G>T - APTX(NM_001195249.1):c.431C>A (p.S144Y) - APTX_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr) Unknown g.32987594G>T - - - APTX_000035 probably not pathogenic - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr) Unknown g.32987594G>T - - - APTX_000035 probably not pathogenic - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
-?/-? 5 c.431C>A likely benign r.(?) p.(Ser144Tyr) Unknown g.32987594G>T - - - APTX_000035 probably not pathogenic van Minkelen et al. In preparation - - Germline - - - 0 - DNA SEQ blood - EAOH - van Minkelen et al. In preparation - - - - - - 0 - - 1 Rick van Minkelen
-/. - c.431C>A benign r.(?) p.(Ser144Tyr) Unknown g.32987594G>T - APTX(NM_001195249.1):c.431C>A (p.S144Y) - APTX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.457A>G benign r.(?) p.(Lys153Glu) Unknown g.32987568T>C - APTX(NM_001195249.1):c.457A>G (p.K153E) - APTX_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/-? 5 c.457A>G likely benign r.(?) p.(Lys153Glu) Unknown g.32987568T>C - - - APTX_000001 - PubMed: Baba 2007 - - Germline - - - 0 - DNA SEQ blood - ? - PubMed: Baba 2007 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 5 c.477del pathogenic (recessive) r.(?) p.(Lys161Argfs*11) Parent #1 g.32987548del - 477delC - APTX_000025 - PubMed: Castellotti 2011 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Castellotti 2011 - - - - - - 0 - - 1 Sergio Piñeiro
-/. - c.484-25G>T benign r.(=) p.(=) Unknown g.32986053C>A - APTX(NM_001195249.1):c.484-25G>T - APTX_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-25_484-6del likely benign r.(=) p.(=) Unknown g.32986041_32986060del - APTX(NM_001195248.1):c.526-25_526-6del (p.(=)) - APTX_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5i c.484-25_484-6del benign r.(?) p.? Maternal (confirmed) g.32986034_32986053del - 484-31_484-12del20 - APTX_000027 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 2-generation family, unaffected parents - - Portugal Portuguese - 0 - - 1 Sergio Piñeiro
-?/. - c.484-25_484-5del likely benign r.spl? p.? Unknown g.32986041_32986061del - APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT - APTX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-25_484-5del likely benign r.spl? p.? Unknown g.32986041_32986061del - APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT - APTX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-25_484-5del benign r.spl? p.? Unknown g.32986041_32986061del - APTX(NM_001195249.1):c.484-25_484-5delGTTTTTTTTTTTGTTTTTTTT - APTX_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5i c.484-25_484-5del benign r.(?) p.? Unknown g.32986033_32986053del - 484-25_484-5del21 - APTX_000032 delGTTTTTTTTTTTGTTTTTTTT - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
-?/. - c.484-25_484-4del likely benign r.spl? p.? Unknown g.32986041_32986062del - APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT - APTX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-25_484-4del benign r.spl? p.? Unknown g.32986041_32986062del - APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT - APTX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-25_484-4del benign r.spl? p.? Unknown g.32986041_32986062del - APTX(NM_001195249.1):c.484-25_484-4delGTTTTTTTTTTTGTTTTTTTTT - APTX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-21_484-20insGT benign r.(=) p.(=) Unknown g.32986049_32986050insCA - APTX(NM_001195249.1):c.484-21_484-20insGT - APTX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484-13del likely benign r.(=) p.(=) Unknown g.32986041del - APTX(NM_001195249.1):c.484-25_484-13delGTTTTTTTTTTTGinsGTTTTTTTTTTT - APTX_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-13G>T likely benign r.(=) p.(=) Unknown g.32986041C>A - APTX(NM_001195249.1):c.484-13G>T (p.?) - APTX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-13G>T benign r.(=) p.(=) Unknown g.32986041C>A - APTX(NM_001195249.1):c.484-13G>T (p.?) - APTX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-13G>T likely benign r.(=) p.(=) Unknown g.32986041C>A - APTX(NM_001195249.1):c.484-13G>T (p.?) - APTX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-12T>G benign r.(=) p.(=) Unknown g.32986040A>C - APTX(NM_001195249.1):c.484-12T>G - APTX_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-12T>G benign r.(=) p.(=) Unknown g.32986040A>C - APTX(NM_001195249.1):c.484-12T>G - APTX_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-12_484-11insG likely benign r.(=) p.(=) Unknown g.32986039_32986040insC - APTX(NM_001195249.1):c.484-12_484-11insG - APTX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.484-12_484-11insG benign r.(=) p.(=) Unknown g.32986039_32986040insC - APTX(NM_001195249.1):c.484-12_484-11insG - APTX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.484-7_484-6insGTTTTT benign r.(=) p.(=) Unknown g.32986039_32986040insCAAAAA - APTX(NM_001195249.1):c.484-7_484-6insGTTTTT - APTX_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.484-5_484-4insGTTTTTTT benign r.spl? p.? Unknown g.32986039_32986040insCAAAAAAA - APTX(NM_001195249.1):c.484-5_484-4insGTTTTTTT - APTX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484-3del likely benign r.spl? p.? Unknown g.32986040del - APTX(NM_001195249.1):c.484-3delT - APTX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-3del benign r.spl? p.? Unknown g.32986040del - APTX(NM_001195249.1):c.484-3delT - APTX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.484-3del benign r.spl? p.? Unknown g.32986040del - APTX(NM_001195249.1):c.484-3delT - APTX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.484-3T>C likely benign r.spl? p.? Unknown g.32986031A>G - APTX(NM_001195248.1):c.526-3T>C (p.?) - APTX_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.484-3_484-2insTTTTTTTTGTTTTTTTTT benign r.spl? p.? Unknown g.32986039_32986040insCAAAAAAAAAAAAAAAAA - APTX(NM_001195249.1):c.484-3_484-2insTTTTTTTTGTTTTTTTTT - APTX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.541C>T pathogenic (recessive) r.(?) p.(Gln181*) Unknown g.32985971G>A - - - APTX_000026 - PubMed: Castellotti 2011 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Castellotti 2011 - - - - - - 0 - - 1 Sergio Piñeiro
-/. - c.543+30A>C benign r.(=) p.(=) Unknown g.32985939T>G - APTX(NM_175073.2):c.543+30A>C - APTX_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 6i c.543+30A>C benign r.(?) p.? Unknown g.32985939T>G - - - APTX_000034 - - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
+/. - c.559C>T pathogenic r.(?) p.(Gln187*) Unknown g.32984840G>A - APTX(NM_001195249.1):c.559C>T (p.Q187*) - APTX_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.559C>T pathogenic r.(?) p.(Gln187*) Unknown g.32984840G>A - APTX(NM_001195249.1):c.559C>T (p.Q187*) - APTX_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.559C>T pathogenic (recessive) r.(?) p.(Gln187*) Unknown g.32984840G>A - - - APTX_000038 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat27320 PubMed: van Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
+/+ 7 c.559C>T pathogenic (recessive) r.(?) p.(Gln187*) Unknown g.32984840G>A - - - APTX_000038 - - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
+/+ 7 c.589A>C pathogenic (recessive) r.(?) p.(Lys197Gln) Unknown g.32984810T>G - - - APTX_000003 - PubMed: Tranchant 2003 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Tranchant 2003 brother/sister - - - - - 0 - - 1 Sergio Piñeiro
+/. - c.593C>T pathogenic r.(?) p.(Ala198Val) Unknown g.32984806G>A - APTX(NM_175073.2):c.593C>T (p.A198V) - APTX_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val) Both (homozygous) g.32984806G>A - - - APTX_000005 - PubMed: Le Ber 2003 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Le Ber 2003 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 7 c.593C>T pathogenic (recessive) r.(?) p.(Ala198Val) Both (homozygous) g.32984806G>A - - - APTX_000005 - PubMed: Le Ber 2003 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Le Ber 2003 - - - - - - 0 - - 1 Rick van Minkelen
?/. 7 c.596G>A - r.(?) p.(Arg199His) Unknown g.32984803C>T g.32984805C>T - - APTX_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
+/. - c.596G>A pathogenic r.(?) p.(Arg199His) Unknown g.32984803C>T - APTX(NM_001195249.1):c.596G>A (p.R199H) - APTX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.596G>A pathogenic (recessive) r.(?) p.(Arg199His) Paternal (confirmed) g.32984803C>T - - - APTX_000006 no maternal variant identified PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 2-generation family, unaffected parents - - Portugal Portuguese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.596G>A pathogenic (recessive) r.(?) p.(Arg199His) Unknown g.32984803C>T - - - APTX_000006 - - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - - - - 0 - - 1 Rick van Minkelen
+/+ 7 c.601del pathogenic (recessive) r.(?) p.(His201Ilefs*13) Both (homozygous) g.32984798del - 643delC - APTX_000029 - PubMed: Nouri et al 2012 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Nouri et al 2012 - - - - - - 0 - - 1 Rick van Minkelen
+/+ 7 c.602A>G pathogenic (recessive) r.(?) p.(His201Arg) Both (homozygous) g.32984797T>C - nt 80 (A>G) - APTX_000007 - PubMed: Shimazaki 2002 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Shimazaki 2002 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.603T>A pathogenic (recessive) r.(?) p.(His201Gln) Both (homozygous) g.32984796A>T - - - APTX_000008 - PubMed: Criscuolo 2004 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Criscuolo 2004 - - - Italy Italian - 0 - - 1 Sergio Piñeiro
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu) Both (homozygous) g.32984782G>A - - - APTX_000009 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu) Both (homozygous) g.32984782G>A - - - APTX_000009 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu) Parent #1 g.32984782G>A - - - APTX_000009 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.617C>T pathogenic (recessive) r.(?) p.(Pro206Leu) Unknown g.32984782G>A - - - APTX_000009 - PubMed: Date 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Date 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.668T>C pathogenic (recessive) r.(?) p.(Leu223Pro) Both (homozygous) g.32984731A>G - - - APTX_000010 - PubMed: Criscuolo 2005 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Criscuolo 2005 - - - - - - 0 - - 1 Sergio Piñeiro
+/? 7 c.683A>G pathogenic (recessive) r.(?) p.(His228Arg) Unknown g.32984716T>C - - - APTX_000011 - PubMed: Fogel 2006 - - Germline - - - 0 - DNA SEQ blood - ? - PubMed: Fogel 2006 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) Both (homozygous) g.32984710dup - 689insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) Both (homozygous) g.32984710dup - 690insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) Parent #2 g.32984710dup - 690insT - APTX_000012 - PubMed: Moreira 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Moreira 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) Unknown g.32984710dup - 690insT - APTX_000012 - - - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689dup pathogenic (recessive) r.(?) p.(Glu232Glyfs*38) Unknown g.32984710dup - 689dupT - APTX_000012 - PubMed: Date 2001 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Date 2001 - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/+ 7 c.689T>G pathogenic (recessive) r.(?) p.(Val230Gly) Both (homozygous) g.32984710A>C - - - APTX_000013 - PubMed: Ferrarini 2007 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Ferrarini 2007 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 7 c.692G>A pathogenic (recessive) r.(?) p.(Gly231Glu) Unknown g.32984707C>T - - - APTX_000014 - PubMed: Ito 2005 - - Germline - - - 0 - DNA SEQ blood - EAOH - - - - - Japan Japanese - 0 - - 1 Sergio Piñeiro
+/? 7 c.725G>A pathogenic (recessive) r.(?) p.(Ser242Asn) Unknown g.32984674C>T - - - APTX_000015 - PubMed: Baba 2007 - - Germline - - - 0 - DNA SEQ blood - ? - PubMed: Baba 2007 - - - - - - 0 - - 1 Sergio Piñeiro
-?/. - c.731T>C likely benign r.(?) p.(Leu244Pro) Unknown g.32984668A>G - APTX(NM_001195249.1):c.731T>C (p.L244P) - APTX_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.734G>A VUS r.(?) p.(Arg245His) Unknown g.32984665C>T - APTX(NM_175073.2):c.734G>A (p.R245H) - APTX_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.739C>T pathogenic r.(?) p.(Arg247*) Unknown g.32984660G>A - APTX(NM_001195249.1):c.739C>T (p.R247*) - APTX_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 7 c.739C>T pathogenic (recessive) r.(?) p.(Arg247*) Both (homozygous) g.32984660G>A - - - APTX_000016 - PubMed: Mosesso 2005 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Mosesso 2005 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 7 c.739C>T pathogenic (recessive) r.(?) p.(Arg247*) Both (homozygous) g.32984660G>A - - - APTX_000016 - PubMed: Mosesso 2005 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Mosesso 2005 - - - - - - 0 - - 1 Rick van Minkelen
?/. - c.742T>A VUS r.(?) p.(Leu248Met) Unknown g.32984657A>T - APTX(NM_001195248.1):c.784T>A (p.(Leu262Met), p.(Leu248Met), p.(Leu208Met), p.(Leu190Met), p.(Leu194Met)) - APTX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.742T>A likely benign r.(?) p.(Leu248Met) Unknown g.32984657A>T - APTX(NM_001195248.1):c.784T>A (p.(Leu262Met), p.(Leu248Met), p.(Leu208Met), p.(Leu190Met), p.(Leu194Met)) - APTX_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met) Unknown g.32984657A>T - - - APTX_000037 - PubMed: van Minkelen 2015 - - Germline - - - 0 - DNA SEQ blood - EAOH 26285866-Pat23006 PubMed: Avan Minkelen 2015 - - - - - - 0 - - 1 Rick van Minkelen
?/? 7 c.742T>A VUS r.(?) p.(Leu248Met) Unknown g.32984657A>T - - - APTX_000037 - van Minkelen et al. In preparation - - Germline - - - 0 - DNA SEQ blood - EAOH - van Minkelen et al. In preparation - - - - - - 0 - - 1 Rick van Minkelen
?/. - c.762G>A VUS r.(?) p.(=) Unknown g.32984637C>T - APTX(NM_001195249.1):c.762G>A (p.P254=) - APTX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770G>A likely benign r.(?) p.(Ser257Asn) Unknown g.32984629C>T - APTX(NM_001195248.1):c.812G>A (p.(Ser271Asn), p.(Ser257Asn), p.(Ser217Asn), p.(Ser199Asn), p.(Ser203Asn)) - APTX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.770+1G>A pathogenic (recessive) r.(?) p.? Unknown g.32984628C>T - - - APTX_000020 - PubMed: Le Ber 2003 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Le Ber 2003 - - - - - - 0 - - 1 Sergio Piñeiro
+/+ 7 c.770+1G>A pathogenic (recessive) r.(?) p.? Unknown g.32984628C>T - - - APTX_000020 - PubMed: Le Ber 2003 - - Germline - - - 0 - DNA SEQ blood - EAOH - PubMed: Le Ber 2003 - - - - - - 0 - - 1 Sergio Piñeiro
Legend   « First ‹ Prev     1 2     Next › Last »