Full data view for gene CHD7

Information The variants shown are described using the NM_017780.3 transcript reference sequence.

790 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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     
-/. - c.-380C>T r.(?) p.(=) Unknown - benign g.61591436C>T g.60678877C>T - - CHD7_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-175+16410T>C r.(=) p.(=) Unknown - VUS g.61608051T>C - CHD7(NM_017780.4):c.-175+16410T>C - CHD7_000558 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.-174-6325_1665+93del r.0? p.0? Unknown - pathogenic g.61647493_61655749del g.60734934_60743190del - - CHD7_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.17T>C r.(?) p.(Met6Thr) Unknown - VUS g.61654008T>C - CHD7(NM_017780.2):c.17T>C (p.M6T) - CHD7_000416 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34G>T r.(?) p.(Glu12*) Unknown - pathogenic g.61654025G>T - CHD7(NM_017780.4):c.34G>T (p.E12*) - CHD7_000569 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46A>G r.(?) p.(Ile16Val) Unknown - VUS g.61654037A>G g.60741478A>G CHD7(NM_017780.4):c.46A>G (p.(Ile16Val)) - CHD7_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62T>C r.(?) p.(Leu21Pro) Unknown - VUS g.61654053T>C - - - CHD7_000452 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.83G>C r.(?) p.(Gly28Ala) Unknown - VUS g.61654074G>C - CHD7(NM_017780.3):c.83G>C (p.(Gly28Ala)) - CHD7_000570 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>A r.(?) p.(Pro30=) Unknown - likely benign g.61654081G>A g.60741522G>A CHD7(NM_017780.2):c.90G>A (p.P30=), CHD7(NM_017780.4):c.90G>A (p.P30=) - CHD7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90G>A r.(?) p.(Pro30=) Unknown - benign g.61654081G>A - CHD7(NM_017780.2):c.90G>A (p.P30=), CHD7(NM_017780.4):c.90G>A (p.P30=) - CHD7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103A>C r.(?) p.(Asn35His) Unknown - VUS g.61654094A>C g.60741535A>C - - CHD7_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127A>G r.(?) p.(Ile43Val) Unknown - likely benign g.61654118A>G - CHD7(NM_017780.2):c.127A>G (p.I43V), CHD7(NM_017780.3):c.127A>G (p.(Ile43Val)) - CHD7_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.127A>G r.(?) p.(Ile43Val) Unknown - likely benign g.61654118A>G - CHD7(NM_017780.2):c.127A>G (p.I43V), CHD7(NM_017780.3):c.127A>G (p.(Ile43Val)) - CHD7_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141T>C r.(?) p.(Phe47=) Unknown - likely benign g.61654132T>C g.60741573T>C CHD7(NM_017780.2):c.141T>C (p.F47=) - CHD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.141T>C r.(?) p.(Phe47=) Unknown - likely benign g.61654132T>C - CHD7(NM_017780.2):c.141T>C (p.F47=) - CHD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151C>T r.(?) p.(Gln51Ter) Unknown - pathogenic g.61654142C>T g.60741583C>T - - CHD7_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.164A>G r.(?) p.(His55Arg) Unknown - likely pathogenic g.61654155A>G g.60741596A>G - - CHD7_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(His71=) Unknown - likely benign g.61654204C>T - CHD7(NM_017780.2):c.213C>T (p.H71=) - CHD7_000488 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216T>C r.(?) p.(Tyr72=) Unknown - benign g.61654207T>C g.60741648T>C CHD7(NM_017780.2):c.216T>C (p.Y72=), CHD7(NM_017780.4):c.216T>C (p.Y72=) - CHD7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216T>C r.(?) p.(Tyr72=) Unknown - benign g.61654207T>C g.60741648T>C CHD7(NM_017780.2):c.216T>C (p.Y72=), CHD7(NM_017780.4):c.216T>C (p.Y72=) - CHD7_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227A>C r.(?) p.(Glu76Ala) Unknown - likely benign g.61654218A>C - - - CHD7_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240G>A r.(?) p.(Met80Ile) Unknown - likely benign g.61654231G>A - CHD7(NM_017780.3):c.240G>A (p.(Met80Ile)) - CHD7_000571 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>T r.(?) p.(Pro86Leu) Unknown - VUS g.61654248C>T g.60741689C>T CHD7(NM_017780.2):c.257C>T (p.P86L) - CHD7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Thr93Ala) Unknown - likely benign g.61654268A>G g.60741709A>G CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A) - CHD7_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Thr93Ala) Unknown - likely benign g.61654268A>G g.60741709A>G CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A) - CHD7_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Thr93Ala) Unknown - likely benign g.61654268A>G - CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A) - CHD7_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277A>G r.(?) p.(Thr93Ala) Unknown - likely benign g.61654268A>G - CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A) - CHD7_000363 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.282del r.(?) p.(Asn96ThrfsTer115) Unknown - pathogenic g.61654273del - CHD7(NM_017780.4):c.282delT (p.N96Tfs*115) - CHD7_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289G>A r.(?) p.(Gly97Arg) Unknown - likely benign g.61654280G>A - - - CHD7_000511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302C>T r.(?) p.(Pro101Leu) Unknown - VUS g.61654293C>T - CHD7(NM_017780.4):c.302C>T (p.P101L) - CHD7_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(His102=) Unknown - benign g.61654297C>T - CHD7(NM_017780.4):c.306C>T (p.H102=) - CHD7_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307T>A r.(?) p.(Ser103Thr) Unknown - benign g.61654298T>A g.60741739T>A CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T) - CHD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307T>A r.(?) p.(Ser103Thr) Unknown - likely benign g.61654298T>A g.60741739T>A CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T) - CHD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307T>A r.(?) p.(Ser103Thr) Unknown - benign g.61654298T>A g.60741739T>A CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T) - CHD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307T>A r.(?) p.(Ser103Thr) Unknown - likely benign g.61654298T>A g.60741739T>A CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T) - CHD7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309G>A r.(?) p.(Ser103=) Unknown - benign g.61654300G>A g.60741741G>A CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=)) - CHD7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309G>A r.(?) p.(Ser103=) Unknown - benign g.61654300G>A g.60741741G>A CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=)) - CHD7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309G>A r.(?) p.(Ser103=) Unknown - benign g.61654300G>A - CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=)) - CHD7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309G>A r.(?) p.(Ser103=) Unknown - benign g.61654300G>A - CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=)) - CHD7_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.353G>A r.(?) p.(Ser118Asn) Unknown - VUS g.61654344G>A - CHD7(NM_017780.4):c.353G>A (p.S118N) - CHD7_000625 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.364C>T r.(?) p.(Gln122Ter) Unknown - pathogenic g.61654355C>T g.60741796C>T - - CHD7_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.375C>G r.(?) p.(Val125=) Unknown - VUS g.61654366C>G g.60741807C>G CHD7(NM_017780.2):c.375C>G (p.V125=) - CHD7_000397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.405G>A r.(?) p.(Gly135=) Unknown - likely benign g.61654396G>A - CHD7(NM_017780.2):c.405G>A (p.G135=) - CHD7_000489 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420C>G r.(?) p.(Asp140Glu) Unknown - likely benign g.61654411C>G - CHD7(NM_017780.3):c.420C>G (p.(Asp140Glu)) - CHD7_000572 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444G>A r.(?) p.(Arg148=) Unknown - likely benign g.61654435G>A - CHD7(NM_001316690.1):c.444G>A (p.(Arg148=)) - CHD7_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.469C>T r.(?) p.(Arg157*) Unknown - pathogenic g.61654460C>T - - - CHD7_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.473C>T r.(?) p.(Ala158Val) Unknown - likely benign g.61654464C>T - CHD7(NM_017780.3):c.473C>T (p.(Ala158Val)) - CHD7_000573 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482A>G r.(?) p.(Gln161Arg) Unknown - likely benign g.61654473A>G - CHD7(NM_017780.3):c.482A>G (p.(Gln161Arg)) - CHD7_000574 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T r.(?) p.(Pro167Leu) Unknown - VUS g.61654491C>T g.60741932C>T - - CHD7_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510G>A r.(?) p.(Pro170=) Unknown - likely benign g.61654501G>A - CHD7(NM_017780.2):c.510G>A (p.P170=) - CHD7_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.534del r.(?) p.(Ala179Hisfs*32) Unknown ACMG likely pathogenic (dominant) g.61654525del - - - CHD7_000412 - PubMed: Biard 2021 - - De novo - - - - - DNA SEQ - - CHARGE Pat2 PubMed: Biard 2021 - M - Belgium - - - - - 1 Valerie Benoit
?/. - c.548C>T r.(?) p.(Pro183Leu) Unknown - VUS g.61654539C>T - - - CHD7_000453 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.549T>C r.(?) p.(=) Unknown - benign g.61654540T>C - CHD7(NM_017780.4):c.549T>C (p.P183=) - CHD7_000555 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580G>A r.(?) p.(Ala194Thr) Unknown - likely benign g.61654571G>A - CHD7(NM_017780.3):c.580G>A (p.(Ala194Thr)) - CHD7_000575 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584G>C r.(?) p.(Arg195Pro) Unknown - VUS g.61654575G>C g.60742016G>C CHD7(NM_017780.4):c.584G>C (p.R195P) - CHD7_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.604C>T r.(?) p.(Gln202Ter) Unknown - pathogenic g.61654595C>T g.60742036C>T - - CHD7_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.608A>G r.(?) p.(His203Arg) Unknown - likely benign g.61654599A>G - CHD7(NM_017780.2):c.608A>G (p.H203R) - CHD7_000417 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657C>T r.(?) p.(Gly219=) Unknown - benign g.61654648C>T g.60742089C>T CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=)) - CHD7_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657C>T r.(?) p.(Gly219=) Unknown - benign g.61654648C>T g.60742089C>T CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=)) - CHD7_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657C>T r.(?) p.(Gly219=) Unknown - benign g.61654648C>T - CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=)) - CHD7_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657C>T r.(?) p.(Gly219=) Unknown - benign g.61654648C>T - CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=)) - CHD7_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686C>T r.(?) p.(Thr229Ile) Unknown - VUS g.61654677C>T - CHD7(NM_017780.3):c.686C>T (p.(Thr229Ile)) - CHD7_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.694C>A r.(?) p.(Pro232Thr) Unknown - likely benign g.61654685C>A g.60742126C>A - - CHD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.729C>T r.(?) p.(Pro243=) Unknown - likely benign g.61654720C>T g.60742161C>T CHD7(NM_017780.2):c.729C>T (p.P243=) - CHD7_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742T>A r.(?) p.(Ser248Thr) Unknown - VUS g.61654733T>A g.60742174T>A CHD7(NM_017780.2):c.742T>A (p.S248T) - CHD7_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749G>A r.(?) p.(Arg250His) Unknown - VUS g.61654740G>A g.60742181G>A CHD7(NM_017780.3):c.749G>A (p.(Arg250His)) - CHD7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.749G>A r.(?) p.(Arg250His) Parent #1 - VUS g.61654740G>A g.60742181G>A - 46,XY CHD7_000013 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat251 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. 2 c.755C>A r.(?) p.(Ser252*) Unknown ACMG likely pathogenic g.61654746C>A - - - CHD7_000413 - PubMed: Biard 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - CHARGE Pat7 PubMed: Biard 2021 - M - Belgium - - - - - 1 Valerie Benoit
?/. - c.760C>G r.(?) p.(Gln254Glu) Unknown - VUS g.61654751C>G - CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E) - CHD7_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760C>G r.(?) p.(Gln254Glu) Unknown - VUS g.61654751C>G - CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E) - CHD7_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760C>G r.(?) p.(Gln254Glu) Unknown - VUS g.61654751C>G - CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E) - CHD7_000468 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.844C>T r.(?) p.(Gln282Ter) Unknown - pathogenic g.61654835C>T g.60742276C>T CHD7(NM_017780.2):c.844C>T (p.Q282*) - CHD7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.844C>T r.(?) p.(Gln282*) Unknown - likely pathogenic (dominant) g.61654835C>T - - - CHD7_000014 - - - - De novo - - - - - DNA SEQ-NG - WES CHARGE 129P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
-/. - c.856A>G r.(?) p.(Arg286Gly) Unknown - benign g.61654847A>G g.60742288A>G CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly)) - CHD7_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.856A>G r.(?) p.(Arg286Gly) Unknown - benign g.61654847A>G - CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly)) - CHD7_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.856A>G r.(?) p.(Arg286Gly) Unknown - benign g.61654847A>G - CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly)) - CHD7_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.860C>T r.(?) p.(Pro287Leu) Parent #1 - VUS g.61654851C>T - - - CHD7_000460 - PubMed: Chen 2015 - - Germline - - - - - DNA SEQ - - HL KS1 PubMed: Chen 2015 3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M - China Uyghur - - - - 4 Johan den Dunnen
?/. - c.904C>T r.(?) p.(Pro302Ser) Unknown - VUS g.61654895C>T - - - CHD7_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.921_922del r.(?) p.(Gly308AlafsTer9) Unknown - pathogenic g.61654912_61654913del g.60742353_60742354del CHD7(NM_017780.2):c.921_922delAG (p.G308Afs*9) - CHD7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.934C>T r.(?) p.(Arg312*) Unknown - pathogenic g.61654925C>T - - - CHD7_000609 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944A>G r.(?) p.(Tyr315Cys) Unknown - VUS g.61654935A>G - - - CHD7_000512 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.946A>G r.(?) p.(Ser316Gly) Unknown - VUS g.61654937A>G g.60742378A>G - - CHD7_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964_965del r.(?) p.(Leu322SerfsTer2) Unknown - pathogenic g.61654955_61654956del g.60742396_60742397del CHD7(NM_017780.2):c.964_965delTT (p.L322Sfs*2) - CHD7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982A>T r.(?) p.(Met328Leu) Unknown - VUS g.61654973A>T - CHD7(NM_017780.4):c.982A>T (p.M328L) - CHD7_000540 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1004del r.(?) p.(Thr335LysfsTer6) Unknown - pathogenic g.61654995del g.60742436del CHD7(NM_017780.2):c.1004delC (p.T335Kfs*6) - CHD7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018A>G r.(?) p.(Met340Val) Unknown - benign g.61655009A>G g.60742450A>G CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V) - CHD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018A>G r.(?) p.(Met340Val) Unknown - likely benign g.61655009A>G g.60742450A>G CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V) - CHD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1018A>G r.(?) p.(Met340Val) Unknown - benign g.61655009A>G g.60742450A>G CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V) - CHD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018A>G r.(?) p.(Met340Val) Unknown - likely benign g.61655009A>G g.60742450A>G CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V) - CHD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018A>G r.(?) p.(Met340Val) Unknown - likely benign g.61655009A>G - CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V) - CHD7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Asn349Ser) Unknown - likely benign g.61655037A>G g.60742478A>G CHD7(NM_017780.2):c.1046A>G (p.N349S) - CHD7_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Asn349Ser) Unknown - likely benign g.61655037A>G - CHD7(NM_017780.2):c.1046A>G (p.N349S) - CHD7_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046A>G r.(?) p.(Asn349Ser) Unknown - likely benign g.61655037A>G - CHD7(NM_017780.2):c.1046A>G (p.N349S) - CHD7_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1051G>A r.(?) p.(Val351Ile) Unknown - likely benign g.61655042G>A - CHD7(NM_017780.3):c.1051G>A (p.(Val351Ile)) - CHD7_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1100T>A r.(?) p.(Ile367Asn) Unknown - VUS g.61655091T>A g.60742532T>A CHD7(NM_017780.2):c.1100T>A (p.I367N) - CHD7_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1135C>T r.(?) p.(Gln379Ter) Unknown - pathogenic g.61655126C>T g.60742567C>T - - CHD7_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170T>C r.(?) p.(Tyr390=) Unknown - likely benign g.61655161T>C g.60742602T>C CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=) - CHD7_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1170T>C r.(?) p.(Tyr390=) Unknown - benign g.61655161T>C - CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=) - CHD7_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1170T>C r.(?) p.(Tyr390=) Unknown - likely benign g.61655161T>C - CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=) - CHD7_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1179A>G r.(?) p.(Pro393=) Unknown - benign g.61655170A>G g.60742611A>G CHD7(NM_017780.2):c.1179A>G (p.P393=) - CHD7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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