Full data view for gene PDZD7


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_001195263.1 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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.156C>T r.(?) p.(Asn52=) - Unknown - benign g.102789821G>A g.101030064G>A PDZD7(NM_001195263.1):c.156C>T (p.N52=), PDZD7(NM_001195263.2):c.156C>T (p.N52=) - PDZD7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156C>T r.(?) p.(Asn52=) - Unknown - likely benign g.102789821G>A g.101030064G>A PDZD7(NM_001195263.1):c.156C>T (p.N52=), PDZD7(NM_001195263.2):c.156C>T (p.N52=) - PDZD7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.166dup r.(?) p.(Arg56Profs*24) - Unknown ACMG pathogenic g.102789817dup g.101030060dup 166_167insC - PDZD7_000001 Modifier PubMed: Ebermann et al., 2009 - - Germline - 0/254 controls - - - DNA SEQ - - USH2 - PubMed: Ebermann et al., 2009 Proband F - Canada - - - - - 1 Anne-Françoise Roux
+/+ 2 c.166dup r.(?) p.(Arg56Profs*24) - Unknown ACMG pathogenic g.102789817dup g.101030060dup 166_167insC - PDZD7_000001 - PubMed: Ebermann et al., 2010 - - Germline - 0/254 controls - - - DNA SEQ - - USH2 - PubMed: Ebermann et al., 2010 Proband M - France - - - - - 1 Anne-Françoise Roux
?/. - c.197G>A r.(?) p.(Arg66His) - Unknown - VUS g.102789780C>T g.101030023C>T PDZD7(NM_001195263.1):c.197G>A (p.R66H) - LZTS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206T>C r.(?) p.(Leu69Pro) - Unknown ACMG VUS g.102789771A>G - - - PDZD7_000069 - Mansard 2021, submitted - rs765515973 Germline - - - - - DNA SEQ-NG, SEQ - - USH2A - PubMed: Mansard et al, 2021 - ? - - - - - - - 1 Anne-Françoise Roux
-?/. - c.219C>T r.(?) p.(Pro73=) - Unknown - likely benign g.102789758G>A - PDZD7(NM_001195263.1):c.219C>T (p.P73=) - LZTS2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.226+2_226+5del r.spl? p.? - Both (homozygous) - likely pathogenic g.102789749_102789752del g.101029992_101029995del - - PDZD7_000022 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood - DFNB;ARNSHL - - family, affected homozygous mother and 3 children, heterozygous unaffected father/child F yes Pakistan - - - - - 4 Polona Le Quesne Stabej
?/. - c.278C>T r.(?) p.(Pro93Leu) - Unknown - VUS g.102783774G>A g.101024017G>A PDZD7(NM_001195263.1):c.278C>T (p.P93L) - PDZD7_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.301G>A r.(?) p.(Val101Met) - Unknown - VUS g.102783751C>T - PDZD7(NM_001195263.1):c.301G>A (p.V101M) - LZTS2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.307G>A r.(?) p.(Gly103Arg) - Unknown - VUS g.102783745C>T - - - LZTS2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.307G>C r.(?) p.(Gly103Arg) PDZ 1 (86-168) Both (homozygous) ACMG VUS g.102783745C>G g.101023988C>G - - PDZD7_000012 {MSV3dQ9UKN7:p.Gly103Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-445PatII1 PubMed: Booth 2015 2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents F - Iran - - - - - 4 Anne-Françoise Roux
+/? 3 c.307G>C r.(?) p.(Gly103Arg) PDZ 1 (86-168) Both (homozygous) ACMG VUS g.102783745C>G g.101023988C>G - - PDZD7_000012 {MSV3dQ9UKN7:p.Gly103Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-445PatII2 PubMed: Booth 2015 sister F - Iran - - - - - 1 Anne-Françoise Roux
+/? 3 c.307G>C r.(?) p.(Gly103Arg) PDZ 1 (86-168) Both (homozygous) ACMG VUS g.102783745C>G g.101023988C>G - - PDZD7_000012 {MSV3dQ9UKN7:p.Gly103Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-445PatII4 PubMed: Booth 2015 brother M - Iran - - - - - 1 Anne-Françoise Roux
+/? 3 c.307G>C r.(?) p.(Gly103Arg) PDZ 1 (86-168) Both (homozygous) ACMG VUS g.102783745C>G g.101023988C>G - - PDZD7_000012 {MSV3dQ9UKN7:p.Gly103Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-445PatII6 PubMed: Booth 2015 brother M - Iran - - - - - 1 Anne-Françoise Roux
+/. - c.307G>C r.(?) p.(Gly103Arg) - Unknown - pathogenic g.102783745C>G g.101023988C>G PDZD7(NM_001195263.1):c.307G>C (p.G103R) - PDZD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.307G>C r.(?) p.(Gly103Arg) - Unknown - likely pathogenic g.102783745C>G - PDZD7(NM_001195263.1):c.307G>C (p.G103R) - PDZD7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324C>T r.(?) p.(Gly108=) - Unknown - likely benign g.102783728G>A g.101023971G>A PDZD7(NM_001195263.1):c.324C>T (p.G108=) - LZTS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Phe112=) - Unknown - likely benign g.102783716G>A g.101023959G>A PDZD7(NM_001195263.1):c.336C>T (p.F112=), PDZD7(NM_001195263.2):c.336C>T (p.F112=) - PDZD7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(Phe112=) - Unknown - likely benign g.102783716G>A g.101023959G>A PDZD7(NM_001195263.1):c.336C>T (p.F112=), PDZD7(NM_001195263.2):c.336C>T (p.F112=) - PDZD7_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.351_353del r.(?) p.(Glu118del) - Unknown - VUS g.102783702_102783704del - PDZD7(NM_001195263.1):c.351_353delGGA (p.E118del) - LZTS2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367+6C>T r.(=) p.(=) - Unknown - likely benign g.102783679G>A g.101023922G>A PDZD7(NM_001195263.2):c.367+6C>T - PDZD7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3i c.367+7A>G r.(=) p.(=) - Unknown ACMG benign g.102783678T>C g.101023921T>C 367+7C>T - PDZD7_000009 - PubMed: Rong et al., 2014 - rs6584410 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong et al., 2014 Proband F - China - - - - - 1 Anne-Françoise Roux
-/- 3i c.367+7A>G r.(=) p.(=) - Unknown ACMG benign g.102783678T>C g.101023921T>C 367+7C>T - PDZD7_000009 - PubMed: Rong et al., 2014 - rs6584410 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Rong et al., 2014 Proband M - China - - - - - 1 Anne-Françoise Roux
-/. - c.367+7A>G r.(=) p.(=) - Unknown - benign g.102783678T>C g.101023921T>C PDZD7(NM_001195263.2):c.367+7A>G - PDZD7_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.472C>T r.(?) p.(Arg158Cys) - Unknown - likely benign g.102783263G>A - PDZD7(NM_001195263.1):c.472C>T (p.R158C) - LZTS2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486G>A r.(?) p.(Met162Ile) - Unknown ACMG VUS g.102783249C>T g.101023492C>T - - PDZD7_000071 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-907 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.490C>T r.(?) p.(Arg164Trp) - Both (homozygous) ACMG likely pathogenic (recessive) g.102783245G>A g.101023488G>A - - PDZD7_000060 ACMG PM2, PM3_P, PP1, PP3 PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - DNA SEQ-NG-I - - deafness SB78-137 PubMed: Kim 2020, Journal: Kim 2020 - - - Korea - - - - - 1 Doo-Yi Oh
+?/. - c.490C>T r.(?) p.(Arg164Trp) - Both (homozygous) - VUS g.102783245G>A g.101023488G>A - - PDZD7_000060 - - - - Germline ? - - - - DNA SEQ-NG-I whole blood WES deafness SB297-597 - - F ? Korea, South (Republic) Asian 00y05m - - - 1 Seungmin Lee
?/. - c.490C>T r.(?) p.(Arg164Trp) - Unknown - VUS g.102783245G>A - - - PDZD7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494G>T r.(?) p.(Arg165Leu) - Unknown - VUS g.102783241C>A - - - LZTS2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.506T>C r.(?) p.(Val169Ala) - Unknown - VUS g.102783229A>G g.101023472A>G - - LZTS2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563G>A r.(?) p.(Arg188His) - Unknown - VUS g.102782122C>T - - - LZTS2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572T>A r.(?) p.(Val191Glu) - Unknown - VUS g.102782113A>T g.101022356A>T PDZD7(NM_001195263.1):c.572T>A (p.V191E, p.(Val191Glu)) - PDZD7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.572T>A r.(?) p.(Val191Glu) - Unknown - likely benign g.102782113A>T g.101022356A>T PDZD7(NM_001195263.1):c.572T>A (p.V191E, p.(Val191Glu)) - PDZD7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572T>A r.(?) p.(Val191Glu) - Parent #1 - VUS g.102782113A>T g.101022356A>T - - PDZD7_000032 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118098246 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. - c.582C>A r.(?) p.(Cys194Ter) - Unknown ACMG likely pathogenic (recessive) g.102782103G>T g.101022346G>T - - PDZD7_000070 ACMG PM2, PVS1; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1166 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.584G>A r.(?) p.(Gly195Asp) - Unknown - VUS g.102782101C>T g.101022344C>T PDZD7(NM_001195263.1):c.584G>A (p.G195D) - PDZD7_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592C>T r.(?) p.(Pro198Ser) - Unknown - VUS g.102782093G>A g.101022336G>A PDZD7(NM_001195263.1):c.592C>T (p.P198S) - PDZD7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>A r.(?) p.(Arg227His) - Unknown - VUS g.102782005C>T g.101022248C>T PDZD7(NM_001195263.1):c.680G>A (p.R227H) - PDZD7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.680G>T r.(?) p.(Arg227Leu) - Unknown - VUS g.102782005C>A - - - LZTS2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.682G>A r.(?) p.(Gly228Arg) PDZ 2 (210-293) Both (homozygous) ACMG VUS g.102782003C>T g.101022246C>T - - PDZD7_000015 {MSV3dQ9UKN7:p.Gly228Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8900092PatII1 PubMed: Booth 2015 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents M - Iran - - - - - 3 Anne-Françoise Roux
+/? 5 c.682G>A r.(?) p.(Gly228Arg) PDZ 2 (210-293) Both (homozygous) ACMG VUS g.102782003C>T g.101022246C>T - - PDZD7_000015 {MSV3dQ9UKN7:p.Gly228Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8900092PatII2 PubMed: Booth 2015 sister F - Iran - - - - - 1 Anne-Françoise Roux
+/? 5 c.682G>A r.(?) p.(Gly228Arg) PDZ 2 (210-293) Both (homozygous) ACMG VUS g.102782003C>T g.101022246C>T - - PDZD7_000015 {MSV3dQ9UKN7:p.Gly228Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8900092PatII3 PubMed: Booth 2015 sister F - Iran - - - - - 1 Anne-Françoise Roux
-?/. - c.786C>T r.(?) p.(Asn262=) - Unknown - likely benign g.102781636G>A - PDZD7(NM_001195263.2):c.786C>T (p.N262=) - LZTS2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.793A>G r.(?) p.(Arg265Gly) - Both (homozygous) - likely pathogenic g.102781629T>C g.101021872T>C c.793A>G, p.(Arg265Gly) - PDZD7_000066 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - DNA SEQ-NG-I blood 108-gene panel targeted resequencing using MIPs library prep retinal disease 066887 PubMed: Tayebi 2019 - - - Iran - - - - - 1 LOVD
?/. - c.802G>A r.(?) p.(Asp268Asn) - Unknown - VUS g.102781620C>T g.101021863C>T PDZD7(NM_001195263.1):c.802G>A (p.D268N) - LZTS2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.811C>T r.(?) p.(His271Tyr) - Unknown - VUS g.102781611G>A g.101021854G>A - - LZTS2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.854T>G r.(?) p.(Met285Arg) PDZ 2 (210-293) Paternal (confirmed) ACMG VUS g.102781568A>C g.101021811A>C - - PDZD7_000013 {MSV3dQ9UKN7:p.Met285Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII1 PubMed: Booth 2015 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F - Iran - - - - - 3 Anne-Françoise Roux
+/? 6 c.854T>G r.(?) p.(Met285Arg) PDZ 2 (210-293) Paternal (confirmed) ACMG VUS g.102781568A>C g.101021811A>C - - PDZD7_000013 {MSV3dQ9UKN7:p.Met285Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII3 PubMed: Booth 2015 brother M - Iran - - - - - 1 Anne-Françoise Roux
+/? 6 c.854T>G r.(?) p.(Met285Arg) PDZ 2 (210-293) Paternal (confirmed) ACMG VUS g.102781568A>C g.101021811A>C - - PDZD7_000013 {MSV3dQ9UKN7:p.Met285Arg} PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII4 PubMed: Booth 2015 sister F - - - - - - - 1 Anne-Françoise Roux
?/. - c.881A>G r.(?) p.(Tyr294Cys) - Unknown - VUS g.102780422T>C - - - LZTS2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928+1G>A r.spl? p.? - Unknown - VUS g.102780374C>T g.101020617C>T PDZD7(NM_001195263.1):c.928+1G>A - PDZD7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.928+1G>A r.spl? p.? - Unknown - pathogenic g.102780374C>T - PDZD7(NM_001195263.1):c.928+1G>A - PDZD7_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.928+20del r.(=) p.(=) - Unknown - benign g.102780357del g.101020600del PDZD7(NM_001195263.2):c.928+20delC - PDZD7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Ser324Asn) - Unknown - VUS g.102778932C>T g.101019175C>T PDZD7(NM_001195263.1):c.971G>A (p.S324N, p.(Ser324Asn)), PDZD7(NM_001195263.2):c.971G>A (p.S324N) - PDZD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Ser324Asn) - Unknown - VUS g.102778932C>T g.101019175C>T PDZD7(NM_001195263.1):c.971G>A (p.S324N, p.(Ser324Asn)), PDZD7(NM_001195263.2):c.971G>A (p.S324N) - PDZD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.971G>A r.(?) p.(Ser324Asn) - Unknown - VUS g.102778932C>T g.101019175C>T PDZD7(NM_001195263.1):c.971G>A (p.S324N, p.(Ser324Asn)), PDZD7(NM_001195263.2):c.971G>A (p.S324N) - PDZD7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.971G>A r.(?) p.(Ser324Asn) - Unknown - VUS g.102778932C>T - c.971G>A - PDZD7_000027 - PubMed: Borràs 2013 - - Germline no Novel - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
-/- 8 c.1011C>T r.(?) p.(=) Ser-rich (319-344) Unknown ACMG benign g.102778892G>A g.101019135G>A - - PDZD7_000007 - PubMed: Besnard, Garcia-Garcia et al., 2014 - rs34705415 Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia et al., 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
?/. - c.1282C>T r.(?) p.(Arg428Trp) - Unknown - VUS g.102778621G>A - - - LZTS2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1325-16T>A r.(=) p.(=) - Unknown - benign g.102778069A>T g.101018312A>T PDZD7(NM_001195263.2):c.1325-16T>A - PDZD7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348_1350del r.(?) p.(Glu450del) - Unknown - likely benign g.102778030_102778032del g.101018273_101018275del PDZD7(NM_001195263.2):c.1348_1350delGAG (p.E450del) - PDZD7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown - likely benign g.102777967A>G g.101018210A>G PDZD7(NM_001195263.1):c.1411T>C (p.F471L), PDZD7(NM_001195263.2):c.1411T>C (p.F471L) - PDZD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown - likely benign g.102777967A>G g.101018210A>G PDZD7(NM_001195263.1):c.1411T>C (p.F471L), PDZD7(NM_001195263.2):c.1411T>C (p.F471L) - PDZD7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1411T>C r.(?) p.(Phe471Leu) - Unknown ACMG VUS g.102777967A>G g.101018210A>G - - PDZD7_000025 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-907 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.1447G>A r.(?) p.(Asp483Asn) - Unknown - benign g.102777931C>T g.101018174C>T PDZD7(NM_001195263.1):c.1447G>A (p.D483N), PDZD7(NM_001195263.2):c.1447G>A (p.D483N) - PDZD7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1447G>A r.(?) p.(Asp483Asn) - Unknown - benign g.102777931C>T g.101018174C>T PDZD7(NM_001195263.1):c.1447G>A (p.D483N), PDZD7(NM_001195263.2):c.1447G>A (p.D483N) - PDZD7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 9 c.1452G>T r.(?) p.(=) - Unknown ACMG likely benign g.102777926C>A g.101018169C>A - - PDZD7_000004 - PubMed: Besnard, Garcia-Garcia et al., 2014 - - Germline - - + BsiEI;+HpyCH4III; - - DNA SEQ, SEQ-NG-S - - deafness - PubMed: Besnard, Garcia-Garcia et al., 2014 Proband M - France - - - - - 1 Anne-Françoise Roux
?/. - c.1452_1454dup r.(?) p.(Arg486dup) - Unknown - VUS g.102777925_102777927dup g.101018168_101018170dup PDZD7(NM_001195263.1):c.1452_1454dupGCG (p.R486dup) - LZTS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1500C>A r.(?) p.(Tyr500*) - Maternal (confirmed) ACMG pathogenic g.102777878G>T g.101018121G>T - - PDZD7_000014 - PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII1 PubMed: Booth 2015 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F - Iran - - - - - 3 Anne-Françoise Roux
+/+ 9 c.1500C>A r.(?) p.(Tyr500*) - Maternal (confirmed) ACMG pathogenic g.102777878G>T g.101018121G>T - - PDZD7_000014 - PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII3 PubMed: Booth 2015 brother M - Iran - - - - - 1 Anne-Françoise Roux
+/+ 9 c.1500C>A r.(?) p.(Tyr500*) - Maternal (confirmed) ACMG pathogenic g.102777878G>T g.101018121G>T - - PDZD7_000014 - PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-755PatII4 PubMed: Booth 2015 sister F - - - - - - - 1 Anne-Françoise Roux
?/. - c.1522+1G>T r.spl? p.? - Unknown - VUS g.102777855C>A - PDZD7(NM_001195263.1):c.1522+1G>T - LZTS2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1523-19G>A r.(=) p.(=) - Unknown - benign g.102776203C>T g.101016446C>T PDZD7(NM_001195263.2):c.1523-19G>A - PDZD7_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1526G>C r.(?) p.(Gly509Ala) - Unknown - VUS g.102776181C>G - - - LZTS2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1543C>T r.(?) p.(Gln515Ter) - Unknown ACMG pathogenic g.102776164G>A g.101016407G>A PDZD7 M5: c.1543C>T;p.Gln515* - PDZD7_000067 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs979094623 Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Gonzalez-del Pozo 2020 father of III:3 M - Spain - - - - - 1 LOVD
+/. - c.1543C>T r.(?) p.(Gln515Ter) - Maternal (confirmed) ACMG pathogenic g.102776164G>A g.101016407G>A PDZD7 M5: c.1543C>T;p.Gln515* - PDZD7_000067 heterozygous PubMed: Gonzalez-del Pozo 2020 - rs979094623 Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Gonzalez-del Pozo 2020 proband F - Spain - - - - - 1 LOVD
+/+ 11 c.1576C>T r.(?) p.(Gln526*) - Both (homozygous) ACMG pathogenic g.102775566G>A g.101015809G>A - - PDZD7_000016 - PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8600482PatII2 PubMed: Booth 2015 Proband M - Iran - - - - - 2 Anne-Françoise Roux
+/+ 11 c.1576C>T r.(?) p.(Gln526*) - Both (homozygous) ACMG pathogenic g.102775566G>A g.101015809G>A - - PDZD7_000016 - PubMed: Booth 2015 - - Germline - 0/600 controls - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8600482PatII3 PubMed: Booth 2015 sister F - Iran - - - - - 1 Anne-Françoise Roux
-?/. - c.1579G>A r.(?) p.(Glu527Lys) - Unknown - likely benign g.102775563C>T g.101015806C>T PDZD7(NM_001195263.2):c.1579G>A (p.E527K) - PDZD7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1613G>A r.(?) p.(Gly538Glu) - Unknown - likely benign g.102775529C>T g.101015772C>T PDZD7(NM_001195263.1):c.1613G>A (p.G538E) - PDZD7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1613G>A r.(?) p.(Gly538Glu) - Parent #1 - likely benign g.102775529C>T g.101015772C>T - - PDZD7_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112571971 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1638T>C r.(?) p.(Asn546=) - Unknown - likely benign g.102775504A>G g.101015747A>G PDZD7(NM_001195263.1):c.1638T>C (p.N546=) - PDZD7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 10 c.1648C>T r.(?) p.(Gln550*) - Paternal (confirmed) ACMG pathogenic g.102775494G>A g.101015737G>A - - PDZD7_000010 - PubMed: Vona et al., 2016 - - Germline - - - - - DNA SEQ-NG-S - - deafness - PubMed: Vona et al., 2016 Proband - Autosomal recessive deafness - - - - - - - - 1 Barbara Vona
?/. - c.1670G>A r.(?) p.(Arg557Gln) - Unknown - VUS g.102775472C>T g.101015715C>T PDZD7(NM_001195263.1):c.1670G>A (p.R557Q) - PDZD7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1672C>T r.(?) p.(Arg558Trp) - Unknown - VUS g.102775470G>A g.101015713G>A PDZD7(NM_001195263.1):c.1672C>T (p.R558W), PDZD7(NM_001195263.2):c.1672C>T (p.R558W) - PDZD7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1672C>T r.(?) p.(Arg558Trp) - Unknown - VUS g.102775470G>A g.101015713G>A PDZD7(NM_001195263.1):c.1672C>T (p.R558W), PDZD7(NM_001195263.2):c.1672C>T (p.R558W) - PDZD7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1716C>T r.(?) p.(Asp572=) - Unknown - likely benign g.102775426G>A g.101015669G>A PDZD7(NM_001195263.1):c.1716C>T (p.D572=) - PDZD7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11i c.1750-2A>G r.spl p.? - Maternal (confirmed) ACMG pathogenic g.102772017T>C g.101012260T>C - - PDZD7_000002 Modifier PubMed: Ebermann et al., 2010 - - Germline - 0/200 controls +AciI;-BstAPI;-PstI;-SfcI; - - DNA SEQ - - USH2 - PubMed: Ebermann et al., 2010 Proband - Carries c.1750-2A>G in PDZD7 - heterozygous, 0/200 controls F - - - - - - - 1 Anne-Françoise Roux
-/? 13 c.1916C>G r.(?) p.(Ala639Gly) - Unknown ACMG likely benign g.102771699G>C g.101011942G>C - - PDZD7_000005 {MSV3dQ9UKN7:p.Ala639Gly} PubMed: Besnard, Garcia-Garcia et al., 2014 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - USH1 - PubMed: Besnard, Garcia-Garcia et al., 2014 Proband F - France - - - - - 1 Anne-Françoise Roux
-/. - c.1916C>G r.(?) p.(Ala639Gly) - Unknown - benign g.102771699G>C g.101011942G>C PDZD7(NM_001195263.2):c.1916C>G (p.A639G) - PDZD7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1933+16C>T r.(=) p.(=) - Unknown - benign g.102771666G>A g.101011909G>A PDZD7(NM_001195263.2):c.1933+16C>T - LZTS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2011C>A r.(?) p.(Arg671Ser) - Unknown - VUS g.102770635G>T g.101010878G>T PDZD7(NM_001195263.1):c.2011C>A (p.R671S) - PDZD7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2049G>A r.(=) p.(=) - Parent #1 - benign g.102770597C>T g.101010840C>T - - PDZD7_000062 156 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34693310 Germline - 156/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 156 Mohammed Faruq
-/. - c.2049G>A r.(=) p.(=) - Both (homozygous) - benign g.102770597C>T g.101010840C>T - - PDZD7_000062 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34693310 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.2061T>A r.(?) p.(Asp687Glu) - Unknown - likely benign g.102770585A>T g.101010828A>T PDZD7(NM_001195263.1):c.2061T>A (p.D687E) - PDZD7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2068G>A r.(?) p.(Glu690Lys) - Unknown - likely benign g.102770578C>T g.101010821C>T PDZD7(NM_001195263.1):c.2068G>A (p.E690K) - LZTS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2089del r.(?) p.(Ala697Profs*26) - Parent #1 - pathogenic g.102770561del g.101010804del 2089delG - PDZD7_000063 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease EC06 PubMed: Zenteno 2020 single patient - - Mexico - - - - - 1 Johan den Dunnen
+/+ 14 c.2107del r.(?) p.(Ser703Valfs*20) - Maternal (confirmed) ACMG pathogenic g.102770540del g.101010783del - - PDZD7_000011 - PubMed: Vona et al., 2016 - rs397516633 Germline - - - - - DNA SEQ-NG-S - - deafness - PubMed: Vona et al., 2016 Proband - Autosomal recessive deafness - - - - - - - - 1 Barbara Vona
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