Full data view for gene RSPH4A

Information The variants shown are described using the NM_001010892.2 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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Age at death     

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Data_av     

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?/? 1_6 c.? r.? p.? Parent #2 - VUS g.? - - - RSPH4A_000000 - - - - Unknown - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - United States Non-Hispanic, white - - - - 1 Maimoona Zariwala
?/? 1_6 c.? r.? p.? Parent #2 - VUS g.? - - - RSPH4A_000000 - - - - Unknown - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 1 c.116C>A r.(?) p.(Ser39*) Paternal (confirmed) - pathogenic g.116937902C>A g.116616739C>A - - RSPH4A_000001 - PubMed: Daniels 2013 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents M - United States Non-Hispanic, white - - - - 1 Maimoona Zariwala
+/? 1 c.116C>A r.(?) p.(Ser39*) Parent #1 - pathogenic g.116937902C>A g.116616739C>A - - RSPH4A_000001 - PubMed: Daniels 2013 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - United States Non-Hispanic, white - - - - 1 Maimoona Zariwala
+?/. 1 c.160C>T r.(?) p.(Gln54*) Unknown ACMG likely pathogenic g.116937946C>T g.116616783C>T - - RSPH4A_000118 - - - rs757396525 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
+?/? 1 c.166dup r.(?) p.(Arg56Profs*11) Both (homozygous) - likely pathogenic g.116937952dup g.116616789dup 166dupC - RSPH4A_000005 - PubMed: Casey 2014 - - Germline - - - - - DNA arraySEQ, PCR, SEQ-NG-I - - CILD - - - M yes Ireland Irish Traveller - - - - 2 Jillian Casey
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Paternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, affected male, unaffected carrier parents M yes United Kingdom (Great Britain) Pakistani - - - - 1 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Maternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, affected male, unaffected carrier parents M yes United Kingdom (Great Britain) Pakistani - - - - 1 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Paternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - ? United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Maternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - ? United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Paternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 2 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Maternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 2 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Paternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 5 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 5 Johan den Dunnen
?/? 1 c.259C>T r.(?) p.(Pro87Ser) Maternal (confirmed) - VUS g.116938045C>T g.116616882C>T - - RSPH4A_000009 - PubMed: Castleman 2009 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 5 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 5 Johan den Dunnen
+/? 1 c.325C>T r.(?) p.(Gln109*) Paternal (confirmed) - pathogenic g.116938111C>T g.116616948C>T - - RSPH4A_000006 - PubMed: Castleman 2009, OMIM:var0002 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/? 1 c.325C>T r.(?) p.(Gln109*) Parent #1 - pathogenic g.116938111C>T g.116616948C>T - - RSPH4A_000006 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 2 affecteds, unaffected carrier parents - yes Poland - - - - - 2 Johan den Dunnen
+/? 1 c.325C>T r.(?) p.(Gln109*) Parent #2 - pathogenic g.116938111C>T g.116616948C>T - - RSPH4A_000006 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 2 affecteds, unaffected carrier parents - yes Poland - - - - - 2 Johan den Dunnen
-/. - c.446C>G r.(?) p.(Thr149Ser) Unknown - benign g.116938232C>G g.116617069C>G RSPH4A(NM_001010892.2):c.446C>G (p.T149S) - RSPH4A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.460C>T r.(?) p.(Gln154*) Paternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, affected male, unaffected carrier parents M yes United Kingdom (Great Britain) Pakistani - - - - 1 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Maternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, affected male, unaffected carrier parents M yes United Kingdom (Great Britain) Pakistani - - - - 1 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Paternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - ? United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Maternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - ? United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Paternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 2 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Maternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 2 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 2 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Paternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 5 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 5 Johan den Dunnen
+/? 1 c.460C>T r.(?) p.(Gln154*) Maternal (confirmed) - pathogenic g.116938246C>T g.116617083C>T - - RSPH4A_000008 - PubMed: Castleman 2009, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 4-generation family, 5 affecteds, unaffected carrier parents - yes United Kingdom (Great Britain) Pakistani - - - - 5 Johan den Dunnen
+/? 1 c.462_469del r.(?) p.(Gln155Thrfs*12) Parent #2 - pathogenic g.116938248_116938255del g.116617085_116617092del - - RSPH4A_000017 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/. - c.462_469del r.(?) p.(Gln155ThrfsTer12) Unknown - pathogenic g.116938248_116938255del g.116617085_116617092del RSPH4A(NM_001010892.2):c.462_469delGCAACCCA (p.Q155Tfs*12) - RSPH4A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650A>C r.(?) p.(Tyr217Ser) Unknown - VUS g.116938436A>C g.116617273A>C - - RSPH4A_000119 - PubMed: Alsamri 2021 - rs762313827 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/? 1 c.667del r.(?) p.(Ser223Alafs*15) Parent #1 - pathogenic g.116938453del g.116617290del - - RSPH4A_000015 - PubMed: Kott 2013, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
?/. - c.731G>A r.(?) p.(Arg244His) Unknown - VUS g.116943975G>A g.116622812G>A RSPH4A(NM_001010892.2):c.731G>A (p.R244H) - RSPH4A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731G>A r.(?) p.(Arg244His) Parent #1 - VUS g.116943975G>A g.116622812G>A - - RSPH4A_000103 conflicting interpretations of pathogenicity; 93 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41289942 Germline - 93/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 93 Mohammed Faruq
+/? 2i c.921+3_921+6del r.687_921del p.Tyr230Glnfs*8 Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.687_921del p.Tyr230Glnfs*8 Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Paternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - Puerto Rico Hispanic - - - - 1 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #2 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #1 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Parent #2 - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 family, 2 affecteds, unaffected carrier parents F - Puerto Rico Hispanic - - - - 2 Maimoona Zariwala
+/? 2i c.921+3_921+6del r.spl p.(Tyr230Glnfs?8) Maternal (confirmed) - pathogenic g.116944168_116944171del g.116623005_116623008del 921+3_6delAAGT - RSPH4A_000003 - PubMed: Daniels 2013, OMIM:var0006 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - United States Hispanic - - - - 1 Maimoona Zariwala
+/? 3 c.1068G>A r.(?) p.(Trp356*) Parent #2 - pathogenic g.116948938G>A g.116627775G>A - - RSPH4A_000010 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected, unaffacted carrier parents - no Poland - - - - - 1 Johan den Dunnen
+/? 3 c.1270del r.(?) p.(Thr424GlnfsTer19) Parent #2 - pathogenic g.116949140del g.116627977del 1720delA - RSPH4A_000016 - PubMed: Kott 2013, OMIM:var0005 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 3 c.1319G>A r.(?) p.(Gly464Glu) Parent #1 - pathogenic g.116949189G>A - - - RSPH4A_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 3 c.1319G>A r.(?) p.(Gly464Glu) Parent #2 - pathogenic g.116949189G>A - - - RSPH4A_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 3 c.1319G>A r.(?) p.(Gly464Glu) Both (homozygous) - pathogenic g.116949189G>A - - - RSPH4A_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 3 c.1319G>A r.(?) p.(Gly464Glu) Parent #1 - pathogenic g.116949189G>A - - - RSPH4A_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 3 c.1351C>T r.(?) p.(Gln451*) Parent #1 - pathogenic g.116949221C>T g.116628058C>T - - RSPH4A_000018 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
-?/. - c.1410C>G r.(?) p.(Ile470Met) Unknown - likely benign g.116949280C>G g.116628117C>G - - RSPH4A_000120 - PubMed: Alsamri 2021 - rs775326896 Germline - - - - - DNA SEQ-NG - 28-gene panel PCD CILD - PubMed: Alsamri 2021 analysis 66 patients with significant clinical respiratory problems - - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Arg490Ter) Unknown - pathogenic g.116949338C>T g.116628175C>T RSPH4A(NM_001010892.3):c.1468C>T (p.R490*) - RSPH4A_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.1468C>T r.(?) p.(Arg490*) Maternal (confirmed) - pathogenic g.116949338C>T g.116628175C>T - - RSPH4A_000007 - PubMed: Castleman 2009, OMIM:var0003 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Castleman 2009 2-generation family, 2 affecteds, unaffected carrier parents - no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/? 3 c.1468C>T r.(?) p.(Arg490*) Parent #1 - pathogenic g.116949338C>T g.116628175C>T - - RSPH4A_000007 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected, unaffacted carrier parents - no Poland - - - - - 1 Johan den Dunnen
+/? 3 c.1468C>T r.(?) p.(Arg490*) Parent #1 - pathogenic g.116949338C>T g.116628175C>T - - RSPH4A_000007 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 2 affected sisters, unaffacted carrier parents - no Poland - - - - - 2 Johan den Dunnen
+/. 3 c.1468C>T r.(?) p.(Arg490*) Unknown ACMG pathogenic g.116949338C>T g.116628175C>T - - RSPH4A_000007 - - ClinVar-505 rs118204043 Germline yes - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) - - - - - 1 Marketa Wayhelova
-?/. - c.1489G>A r.(?) p.(Val497Ile) Unknown - likely benign g.116949359G>A g.116628196G>A RSPH4A(NM_001010892.2):c.1489G>A (p.V497I) - RSPH4A_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1558C>T r.(?) p.(Arg520*) Both (homozygous) ACMG likely pathogenic g.116949428C>T g.116628265C>T - - RSPH4A_000101 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - CILD11 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/? 3i c.1662+2_1662+5del r.spl p.? Maternal (confirmed) - pathogenic g.116949534_116949537del g.116628371_116628374del 1662+2_5delTAGG - RSPH4A_000004 - PubMed: Daniels 2013 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents M - United States Non-Hispanic, white - - - - 1 Maimoona Zariwala
+/? 3i c.1662+2_1662+5del r.spl p.? Parent #2 - pathogenic g.116949534_116949537del g.116628371_116628374del IVS3(+2-5)del - RSPH4A_000004 not in 200 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 2 affected sisters, unaffacted carrier parents - no Poland - - - - - 2 Johan den Dunnen
+/? 3i c.1662+2_1662+5del r.spl p.? Parent #1 - pathogenic g.116949534_116949537del g.116628371_116628374del IVS3(+2-5)del - RSPH4A_000004 not in 200 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 2 affected sisters, unaffacted carrier parents - ? Poland - - - - - 2 Johan den Dunnen
+/? 3i c.1662+2_1662+5del r.spl p.? Parent #2 - pathogenic g.116949534_116949537del g.116628371_116628374del IVS3(+2-5)del - RSPH4A_000004 not in 200 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 2 affected sisters, unaffacted carrier parents - ? Poland - - - - - 2 Johan den Dunnen
-/. - c.1667G>A r.(?) p.(Arg556His) Unknown - benign g.116950734G>A g.116629571G>A RSPH4A(NM_001010892.2):c.1667G>A (p.R556H) - RSPH4A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1707del r.(?) p.(Glu570LysfsTer14) Unknown - pathogenic g.116950774del g.116629611del RSPH4A(NM_001010892.3):c.1707delA (p.E570Kfs*14) - RSPH4A_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.1732_1733del r.(?) p.(Asp578Argfs*3) Paternal (confirmed) - pathogenic g.116950799_116950800del g.116629636_116629637del 1732_33delGA - RSPH4A_000002 - PubMed: Daniels 2013 - - Germline - - - - - DNA SEQ - - CILD - PubMed: Daniels 2013 unaffected carrier parents F - United States Hispanic - - - - 1 Maimoona Zariwala
-/. - c.1766T>C r.(?) p.(Leu589Pro) Unknown - benign g.116950833T>C g.116629670T>C RSPH4A(NM_001010892.2):c.1766T>C (p.L589P) - RSPH4A_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1798+11G>A r.(=) p.(=) Unknown - benign g.116950876G>A g.116629713G>A RSPH4A(NM_001010892.2):c.1798+11G>A - RSPH4A_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1879A>C r.(?) p.(Asn627His) Unknown - benign g.116951678A>C g.116630515A>C RSPH4A(NM_001010892.2):c.1879A>C (p.N627H) - RSPH4A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1881C>A r.(?) p.(Asn627Lys) Unknown - VUS g.116951680C>A g.116630517C>A RSPH4A(NM_001010892.2):c.1881C>A (p.N627K) - RSPH4A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1881C>A r.(?) p.(Asn627Lys) Unknown - VUS g.116951680C>A - RSPH4A(NM_001010892.2):c.1881C>A (p.N627K) - RSPH4A_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5i c.1916+2T>A r.spl p.? Parent #1 - pathogenic g.116951717T>A g.116630554T>A - - RSPH4A_000013 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 5i c.1916+2T>A r.spl p.? Parent #2 - pathogenic g.116951717T>A g.116630554T>A - - RSPH4A_000013 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 5i c.1916+2T>A r.spl p.? Parent #1 - pathogenic g.116951717T>A g.116630554T>A - - RSPH4A_000013 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
+/? 5i c.1916+2T>A r.spl p.? Parent #2 - pathogenic g.116951717T>A g.116630554T>A - - RSPH4A_000013 - PubMed: Kott 2013 - - Germline - - - - - DNA SEQ - - CILD - - - - ? France - - - - - 1 Johan den Dunnen
?/? 5i c.1917-4A>G r.(spl?) p.(?) Parent #1 - VUS g.116953366A>G g.116632203A>G IVS5-4A>G - RSPH4A_000011 not in 400 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected, unaffacted carrier parents - ? Poland - - - - - 1 Johan den Dunnen
?/? 5i c.1917-4A>G r.(spl?) p.(?) Parent #1 - VUS g.116953366A>G g.116632203A>G IVS5-4A>G - RSPH4A_000011 not in 400 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected - ? Poland - - - - - 1 Johan den Dunnen
?/? 5i c.1917-4A>G r.(spl?) p.(?) Parent #1 - VUS g.116953366A>G g.116632203A>G IVS5-4A>G - RSPH4A_000011 not in 400 control chromosomes PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected, unaffacted carrier mother - ? Poland - - - - - 1 Johan den Dunnen
?/. - c.1928A>T r.(?) p.(Asn643Ile) Unknown - VUS g.116953381A>T g.116632218A>T RSPH4A(NM_001010892.2):c.1928A>T (p.N643I) - RSPH4A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1963_1966del r.(?) p.(Asp655IlefsTer83) Unknown - pathogenic g.116953416_116953419del - RSPH4A(NM_001010892.2):c.1963_1966delGACA (p.D655Ifs*83) - RSPH4A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1990C>T r.(?) p.(Pro664Ser) Parent #1 - VUS g.116953443C>T g.116632280C>T - - RSPH4A_000115 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs146142715 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2021A>G r.(?) p.(Glu674Gly) Unknown - VUS g.116953474A>G - RSPH4A(NM_001010892.3):c.2021A>G (p.E674G) - RSPH4A_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8A>G r.(=) p.(=) Unknown - likely benign g.116953612A>G g.116632449A>G RSPH4A(NM_001010892.2):c.*8A>G - RSPH4A_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 6 c.*195_*205del r.(?) p.(=) Parent #1 - benign g.116953799_116953809del g.116632636_116632646del 3'UTR3(195-205)del - RSPH4A_000012 - PubMed: Zietkiewicz 2012 - - Germline - - - - - DNA SSCA, SEQ - - CILD - PubMed: Zietkiewicz 2012 family, 1 affected - ? Poland - - - - - 1 Johan den Dunnen
-/? 6 c.*195_*205del r.(?) p.(=) Parent #1 - benign g.116953799_116953809del g.116632636_116632646del 3'UTR3(195-205)del - RSPH4A_000012 - PubMed: Zietkiewicz 2012 - - Germline - 5/440 chromosomes - - - DNA SSCA, SEQ - - Healthy/Control - - - - - Poland - - - - - 5 Johan den Dunnen
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