Full data view for gene PHOX2B

Information The variants shown are described using the NM_003924.3 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - - - r.(=) p.(=) Unknown - VUS g.41745646C>T - - - PHOX2B_000060 - - - - Unknown - - - - - DNA SEQ lymphoblasts - ? ALTE-010 - - M - Italy - - - - - 1 Tiziana Bachetti
+?/. 3_ - - r.(?) p.(=) Unknown - VUS g.41745646C>T g.41743629C>T *2178G>A - PHOX2B_000060 - - - - Unknown - - - - - DNA SEQ lymphoblasts - SIDS SIDS 14 - - M - Italy - - - - - 1 Tiziana Bachetti
+/. - c.95_105del - r.(?) p.(Asp32Valfs*10) Unknown - pathogenic g.41750523_41750533del g.41748506_41748516del 95_105delACTTCAGTTCC - PHOX2B_000057 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - (Germany) - - - - - 1 IMGAG
?/. - c.100A>G - r.(?) p.(Ser34Gly) Unknown - VUS g.41750528T>C - PHOX2B(NM_003924.4):c.100A>G (p.S34G) - PHOX2B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.203del - r.(?) p.(Gly68Alafs*66) Unknown - likely pathogenic g.41750427del g.41748410del - - PHOX2B_000044 - PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - - De novo - - - - - DNA SEQ - - CCHS 215 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - F ? Germany - - - - - 1 Tiziana Bachetti
+/. - c.238_239del - r.(?) p.(Ala80Serfs*97) Unknown - pathogenic g.41750390_41750391del - PHOX2B(NM_003924.4):c.238_239delGC (p.A80Sfs*97) - PHOX2B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.242-115G>A - r.(=) p.(=) Unknown - benign g.41749668C>T g.41747651C>T PHOX2B(NM_003924.4):c.242-115G>A - PHOX2B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.284_291del - r.(?) p.(Lys95Thrfs*80) Unknown - pathogenic g.41749504_41749511del g.41747487_41747494del 284–291del8nt - PHOX2B_000052 - PubMed: Van Limpt 2004 - - De novo - - - - - DNA SEQ - - neuroblastoma 15516980-N97 PubMed: Van Limpt 2004 - M - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.304C>T - r.(?) p.(Arg102Cys) Unknown - VUS g.41749491G>A - PHOX2B(NM_003924.3):c.304C>T (p.R102C), PHOX2B(NM_003924.4):c.304C>T (p.R102C) - PHOX2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.304C>T - r.(?) p.(Arg102Cys) Unknown - pathogenic g.41749491G>A - PHOX2B(NM_003924.3):c.304C>T (p.R102C), PHOX2B(NM_003924.4):c.304C>T (p.R102C) - PHOX2B_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307A>C - r.(?) p.(Thr103Pro) Unknown - VUS g.41749488T>G - PHOX2B(NM_003924.4):c.307A>C (p.T103P) - PHOX2B_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393G>C - r.(?) p.(Leu131=) Unknown - likely benign g.41749402C>G - PHOX2B(NM_003924.4):c.393G>C (p.L131=) - PHOX2B_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.422G>A - r.(?) p.(Arg141Gln) Unknown - likely pathogenic g.41749373C>T g.41747356C>T - - PHOX2B_000019 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 3 Johan den Dunnen
+?/. 3 c.428A>G - r.(?) p.(Gln143Arg) Unknown - likely pathogenic g.41749367T>C g.41747350T>C - - PHOX2B_000020 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 1 Johan den Dunnen
+/. 3 c.440A>G - r.(440a>g) p.(Gln147Arg) Unknown ACMG likely pathogenic (dominant) g.41748329T>C g.41746312T>C g.41748335A>G - PHOX2B_000065 - - - - Germline ? - - - - DNA SEQ-NG Blood sample - CCHS - - - F no France African 00y01m - - - 1 Minh Tuan Huynh
+/. - c.448C>A - r.(?) p.(Arg150Ser) Unknown - pathogenic g.41748321G>T - PHOX2B(NM_003924.4):c.448C>A (p.R150S) - PHOX2B_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.519del - r.(?) p.(Lys175Serfs*134) Unknown - pathogenic g.41748250del g.41746233del - - PHOX2B_000038 - PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - - Unknown - - - - - DNA SEQ - - CCHS 085 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 parents's DNA not available for inheritance study M ? Germany - - - - - 1 Tiziana Bachetti
-/. - c.552C>T - r.(?) p.(Ser184=) Unknown - benign g.41748217G>A g.41746200G>A PHOX2B(NM_003924.3):c.552C>T (p.(Ser184=)), PHOX2B(NM_003924.4):c.552C>T (p.S184=) - PHOX2B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552C>T - r.(?) p.(Ser184=) Unknown - likely benign g.41748217G>A g.41746200G>A PHOX2B(NM_003924.3):c.552C>T (p.(Ser184=)), PHOX2B(NM_003924.4):c.552C>T (p.S184=) - PHOX2B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.552C>T - c.(552c>u) p.(Ser184=) Unknown - likely benign g.41748217G>A g.41746200G>A - - PHOX2B_000050 - - - - Unknown - - - - - DNA SEQ lymphoblasts - SIDS SIDS 13 - - F - Italy - - - - - 1 Tiziana Bachetti
-/. 3 c.552C>T - r.(552c>u) p.(Ser184=) Unknown - likely benign g.41748217G>A g.41746200G>A - - PHOX2B_000050 - - - - Unknown - - - - - DNA SEQ lymphoblasts - SIDS SIDS 14 - - M - Italy - - - - - 1 Tiziana Bachetti
-/. 3 c.552C>T - r.(=) p.(=) Unknown - likely benign g.41748217G>A - - - PHOX2B_000050 - - - - Unknown - - - - - DNA SEQ lymphoblasts - ? ALTE-010 - - M - Italy - - - - - 1 Tiziana Bachetti
-?/. - c.591C>G - r.(?) p.(Gly197=) Unknown - likely benign g.41748178G>C g.41746161G>C PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=) - PHOX2B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>G - r.(?) p.(Gly197=) Unknown - likely benign g.41748178G>C g.41746161G>C PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=) - PHOX2B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>G - r.(?) p.(Gly197=) Unknown - likely benign g.41748178G>C g.41746161G>C PHOX2B(NM_003924.3):c.591C>G (p.G197=), PHOX2B(NM_003924.4):c.591C>G (p.G197=) - PHOX2B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.608dup - r.(?) p.(Asn203Lysfs*157) Unknown - pathogenic g.41748162dup g.41746145dup 606–607insA - PHOX2B_000021 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 1 Johan den Dunnen
+/. 3 c.618del - r.(?) p.(Ser207Alafs*102) Maternal (confirmed) - pathogenic g.41748155del g.41746138del 614-618delC - PHOX2B_000034 - PubMed: Matera 2004 - - Germline yes - - - - DNA PCR, SEQ - - CCHS Pat27 PubMed: Matera 2004 variant inherited from mother, affected brother/sister carry same variant M - Netherlands - - - - ventilation during sleep 4 Tiziana Bachetti
+/. 3 c.618dup - r.(?) p.(Ser207Glnfs*153) Unknown - pathogenic g.41748155dup g.41746138dup 618-619insC - PHOX2B_000007 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.618dup - r.(?) p.(Ser207Glnfs*153) Unknown - pathogenic g.41748155dup g.41746138dup 618–619insC - PHOX2B_000007 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 3 Johan den Dunnen
+/. 3 c.636_673del - r.(?) p.(Gly216Alafs*131) Unknown - pathogenic g.41748098_41748135del g.41746081_41746118del 633_670del - PHOX2B_000055 - PubMed: Van Limpt 2004 - - Somatic - - - - - DNA SEQ - - neuroblastoma 15516980-N129 PubMed: Van Limpt 2004 - - - Netherlands - 01y03m - - - 1 Johan den Dunnen
-?/. - c.639C>G - r.(?) p.(=) Unknown - likely benign g.41748130G>C - PHOX2B(NM_003924.4):c.639C>G (p.G213=) - PHOX2B_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642C>T - r.(?) p.(Gly214=) Unknown - likely benign g.41748127G>A g.41746110G>A PHOX2B(NM_003924.4):c.642C>T (p.G214=) - PHOX2B_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651G>T - r.(?) p.(Gly217=) Unknown - likely benign g.41748118C>A g.41746101C>A PHOX2B(NM_003924.4):c.651G>T (p.G217=) - PHOX2B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.663dup - r.(?) p.(Gly222Trpfs*138) Unknown - likely pathogenic g.41748106dup g.41746089dup - - PHOX2B_000043 - PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - - Germline/De novo (untested) ? - - - - DNA SEQ - - CCHS 131 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - ? - - - - - - - 1 Tiziana Bachetti
?/. - c.671C>A - r.(?) p.(Pro224Gln) Unknown - VUS g.41748098G>T - PHOX2B(NM_003924.4):c.671C>A (p.P224Q) - PHOX2B_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.691_698dup - r.(?) p.(Gly234Alafs*78) Unknown - pathogenic g.41748081_41748088dup g.41746064_41746071dup 689–696dup8 - PHOX2B_000024 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 44 Johan den Dunnen
+/. 3 c.692del - r.(?) p.(Gly231Alafs*78) Unknown - pathogenic g.41748081del g.41746064del 692delG - PHOX2B_000022 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 1 Johan den Dunnen
-?/. - c.692G>A - r.(?) p.(Gly231Asp) Unknown - likely benign g.41748077C>T g.41746060C>T PHOX2B(NM_003924.3):c.692G>A (p.G231D) - PHOX2B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.693_700del - r.(?) p.(Pro232Argfs*125) Unknown - pathogenic g.41748070_41748077del g.41746053_41746060del 693–700del8 - PHOX2B_000023 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 35 Johan den Dunnen
+/. 3 c.702_714dup - r.(?) p.(Gly239Argfs*125) Unknown - pathogenic g.41748056_41748068dup g.41746039_41746051dup - - PHOX2B_000054 - PubMed: Van Limpt 2004 - - Somatic - - - - - DNA SEQ - - neuroblastoma 15516980-N571 PubMed: Van Limpt 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - - - PHOX2B_000003 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Germline yes - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - Australia - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - Germany - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Germline yes - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 2-generation family, 3 affecteds,mother/2 children - - United States - - - - - 3 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Antic 2006, Journal: Antic 2006 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Antic 2006, Journal: Antic 2006 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[25] Ala-25 r.(?) p.(Ala241[25]) Unknown - pathogenic g.41747989_41748049NGC[25] - Ala25 - PHOX2B_000003 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 35/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 35 Johan den Dunnen
+/. 3 c.720_780GCN[26] Ala-26 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[26] - - - PHOX2B_000011 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[26] Ala-26 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[26] - - - PHOX2B_000011 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[26] Ala-26 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[26] - - - PHOX2B_000011 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[26] Ala-26 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[26] - - - PHOX2B_000011 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA PCR - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.720_780GCN[26] Ala-26 r.(?) p.(Ala241[26]) Unknown - pathogenic g.41747989_41748049NGC[26] - Ala26 - PHOX2B_000011 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 44/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 44 Johan den Dunnen
+/. 3 c.720_780GCN[27] Ala-27 r.(?) p.(Ala241[27]) Unknown - pathogenic g.41747989_41748049NGC[27] - Ala27 - PHOX2B_000012 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 60/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 60 Johan den Dunnen
+/. 3 c.720_780GCN[28] Ala-28 r.(?) p.(Ala241[28]) Unknown - pathogenic g.41747989_41748049NGC[28] - Ala28 - PHOX2B_000013 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 5/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 5 Johan den Dunnen
+/. 3 c.720_780GCN[29] Ala-29 r.(?) p.(Ala241[29]) Unknown - pathogenic g.41747989_41748049NGC[29] - Ala29 - PHOX2B_000014 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 4/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 4 Johan den Dunnen
+/. 3 c.720_780GCN[30] Ala-30 r.(?) p.(Ala241[30]) Unknown - pathogenic g.41747989_41748049NGC[30] - Ala30 - PHOX2B_000015 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 3/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 3 Johan den Dunnen
+/. 3 c.720_780GCN[31] Ala-31 r.(?) p.(Ala241[31]) Unknown - pathogenic g.41747989_41748049NGC[31] - Ala31 - PHOX2B_000016 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 2/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 2 Johan den Dunnen
+/. 3 c.720_780GCN[32] Ala-32 r.(?) p.(Ala241[32]) Unknown - pathogenic g.41747989_41748049NGC[32] - Ala32 - PHOX2B_000017 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 2/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 2 Johan den Dunnen
+/. 3 c.720_780GCN[33] Ala-33 r.(?) p.(Ala241[33]) Unknown - pathogenic g.41747989_41748049NGC[33] - Ala33 - PHOX2B_000018 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Unknown - 6/188 cases - - - DNA PCR - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 6 Johan den Dunnen
+/. 3 c.721_740del - r.(?) p.(Ala241Argfs*112) Unknown - pathogenic g.41748035_41748054del g.41746018_41746037del - - PHOX2B_000056 - PubMed: Van Limpt 2004 - - Germline - - - - - DNA SEQ - - neuroblastoma 15516980-SK-N-SH PubMed: Van Limpt 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.722_738dup - r.(?) p.(Ala247Glnfs*68) Unknown - pathogenic g.41748038_41748054dup g.41746021_41746037dup - - PHOX2B_000053 - PubMed: Van Limpt 2004 - - De novo - - - - - DNA SEQ - - CCHS 15516980-N532 PubMed: Van Limpt 2004 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.722_756del - r.(?) p.(Ala241Glyfs*107) Unknown - pathogenic g.41748020_41748054del g.41746003_41746037del 722del35 - PHOX2B_000025 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 60 Johan den Dunnen
+/. 3 c.722_756del - r.(?) p.(Ala241Glyfs*107) Unknown - pathogenic g.41748020_41748054del g.41746003_41746037del 721_755del - PHOX2B_000025 - PubMed: Van Limpt 2004 - - Somatic - - - - - DNA SEQ - - neuroblastoma 15516980-N511 PubMed: Van Limpt 2004 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 3 c.722_759del - r.(?) p.(Ala241Glyfs*106) Unknown - pathogenic g.41748017_41748054del g.41746000_41746037del 722-759del38 - PHOX2B_000006 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.722_759del - r.(?) p.(Ala241Glyfs*106) Unknown - pathogenic g.41748017_41748054del g.41746000_41746037del 722del38 - PHOX2B_000006 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 5 Johan den Dunnen
+/. 3 c.722_759del - r.(?) p.(Ala241Glyfs*106) Unknown - pathogenic g.41748017_41748054del g.41746000_41746037del 722del38 - PHOX2B_000006 - PubMed: Trochet 2005, Journal: Trochet 2005 - - Germline - 1/188 cases - - - DNA SEQ - - CCHS - PubMed: Trochet 2005, Journal: Trochet 2005 analysis 188 CCHS cases - - - European - - - - 4 Johan den Dunnen
+?/. 3 c.722_759del - r.(?) p.(Ala241Glyfs*106) Unknown - likely pathogenic g.41748017_41748054del g.41746000_41746037del - - PHOX2B_000006 - PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - - De novo - - - - - DNA SEQ - - CCHS 299 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - M ? - - - - - - 1 Tiziana Bachetti
+/. 3 c.722_759del - r.(?) p.(Ala241Glyfs*106) Unknown - pathogenic g.41748017_41748054del g.41746000_41746037del - - PHOX2B_000006 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat24 PubMed: Matera 2004 - M ? Italy - 00y04m - - ventilation 24h 1 Tiziana Bachetti
+?/. 3 c.722_759dup - r.(?) p.(Ala254Glnfs*68) Unknown - likely pathogenic g.41748017_41748054dup g.41746000_41746037dup - - PHOX2B_000045 - PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - - Germline - - - - - DNA SEQ - - CCHS 259 PubMed: Di Lascio 2018, Journal: Di Lascio 2018 - M - Italy - - - - - 1 Tiziana Bachetti
+/. 3 c.726_743dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748028_41748045dup g.41746011_41746028dup - - PHOX2B_000039 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat02 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.726_743dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748028_41748045dup g.41746011_41746028dup - - PHOX2B_000039 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat07 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.726_743dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748028_41748045dup g.41746011_41746028dup - - PHOX2B_000039 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat28 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
?/. - c.729_749del - r.(?) p.(Ala254_Ala260del) Unknown - VUS g.41748025_41748045del - PHOX2B(NM_003924.4):c.729_749del (p.(Ala254_Ala260del)) - PHOX2B_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.735_767dup Ala-31 r.(?) p.(Ala250_Ala260dup) Unknown - pathogenic g.41748010_41748042dup g.41745993_41746025dup - - PHOX2B_000040 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat10 PubMed: Matera 2004 - - - Italy - - - - ventilation 24h 1 Tiziana Bachetti
+/. 3 c.738_761dup Ala-28 r.(?) p.(Ala253_Ala260dup) Unknown - pathogenic g.41748016_41748039dup g.41745999_41746022dup - - PHOX2B_000009 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
-?/. - c.738_776del - r.(?) p.(Ala248_Ala260del) Unknown - likely benign g.41748004_41748042del - PHOX2B(NM_003924.4):c.738_776del (p.(Ala248_Ala260del)) - PHOX2B_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.738_776dup Ala-33 r.(?) p.(Ala248_Ala260dup) Unknown - pathogenic g.41748004_41748042dup g.41745987_41746025dup - - PHOX2B_000041 - PubMed: Matera 2004 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - CCHS Pat14 PubMed: Matera 2004 - - - Germany - - - - ventilation 24h 1 Tiziana Bachetti
./. - c.741_755del - r.(?) p.(Ala256_Ala260del) Unknown - likely pathogenic g.41748022_41748036del g.41746005_41746019del NM_003924.3(PHOX2B):c.741_755del p.(Ala256_Ala260del) - PHOX2B_000032 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-059A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.741_755del - r.(?) p.(Ala256_Ala260del) Unknown - likely benign g.41748022_41748036del g.41746005_41746019del PHOX2B(NM_003924.3):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del), PHOX2B(NM_003924.4):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del) - PHOX2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741_755del - r.(?) p.(Ala256_Ala260del) Unknown - likely benign g.41748022_41748036del g.41746005_41746019del PHOX2B(NM_003924.3):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del), PHOX2B(NM_003924.4):c.741_755delCGCGGCAGCGGCGGC (p.A256_A260del) - PHOX2B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741_758del - r.(?) p.(Ala255_Ala260del) Unknown - likely benign g.41748025_41748042del - PHOX2B(NM_003924.3):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del), PHOX2B(NM_003924.4):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del) - PHOX2B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741_758del - r.(?) p.(Ala255_Ala260del) Unknown - likely benign g.41748025_41748042del - PHOX2B(NM_003924.3):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del), PHOX2B(NM_003924.4):c.741_758delCGCGGCAGCGGCGGCGGC (p.A255_A260del) - PHOX2B_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Amiel 2003, Journal: Amiel 2003 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Paternal (confirmed) - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Arai 2007, Journal: Arai 2007 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat03 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat08 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Matera 2004 - - Germline - - - - - DNA PCR, SEQ - - CCHS Pat09 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Matera 2004 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - CCHS Pat12 PubMed: Matera 2004 - - - Germany - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.741_758dup Ala-26 r.(?) p.(Ala255_Ala260dup) Unknown - pathogenic g.41748025_41748042dup g.41746008_41746025dup - - PHOX2B_000002 - PubMed: Matera 2004 - - De novo - - - - - DNA PCR, SEQ - - CCHS Pat18 PubMed: Matera 2004 - - - Italy - - - - ventilation during sleep 1 Tiziana Bachetti
+/. 3 c.741_761dup Ala-27 r.(?) p.(Ala254_Ala260dup) Unknown - pathogenic g.41748019_41748039dup g.41746002_41746022dup - - PHOX2B_000005 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected - - France - - - - - 1 Johan den Dunnen
+/. 3 c.741_761dup Ala-27 r.(?) p.(Ala254_Ala260dup) Paternal (confirmed) - pathogenic g.41748019_41748039dup g.41746002_41746022dup - - PHOX2B_000005 - PubMed: Arai 2007, Journal: Arai 2007 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 3 Johan den Dunnen
+/. 3 c.741_761dup Ala-27 r.(?) p.(Ala254_Ala260dup) Paternal (confirmed) - pathogenic g.41748019_41748039dup g.41746002_41746022dup - - PHOX2B_000005 - PubMed: Arai 2007, Journal: Arai 2007 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. 3 c.741_761dup Ala-27 r.(?) p.(Ala254_Ala260dup) Paternal (confirmed) - pathogenic g.41748019_41748039dup g.41746002_41746022dup - - PHOX2B_000005 - PubMed: Arai 2007, Journal: Arai 2007 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 3 Johan den Dunnen
+/. 3 c.741_761dup Ala-27 r.(?) p.(Ala254_Ala260dup) Paternal (confirmed) - pathogenic g.41748019_41748039dup g.41746002_41746022dup - - PHOX2B_000005 - PubMed: Arai 2007, Journal: Arai 2007 - - De novo - - - - - DNA SEQ - - CCHS - PubMed: Arai 2007, Journal: Arai 2007 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - 1 Johan den Dunnen
-?/. - c.744G>C - r.(?) p.(Ala248=) Unknown - likely benign g.41748025C>G g.41746008C>G PHOX2B(NM_003924.3):c.744G>C (p.A248=) - PHOX2B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.747_773dup Ala-29 r.(?) p.(Ala252_Ala260dup) Unknown - pathogenic g.41748001_41748027dup g.41745984_41746010dup - - PHOX2B_000010 - PubMed: Amiel 2003, Journal: Amiel 2003 - - Unknown - - - - - DNA SEQ - - CCHS - PubMed: Amiel 2003, Journal: Amiel 2003 2-generation family, 1 affected, unaffected non-carrier parents - - France - - - - - 1 Johan den Dunnen
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