Full data view for gene CIB2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006383.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.-214C>T r.(?) p.(=) Unknown - likely benign g.78423771G>A g.78131429G>A - - CIB2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4G>A r.(?) p.(Gly2Arg) Unknown - VUS g.78423554C>T g.78131212C>T - - CIB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.34C>T r.(?) p.(Gln12*) Parent #1 - pathogenic g.78423524G>A g.78131182G>A - - CIB2_000019 - MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - HL - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.52-438_86+2639del r.spl p.(Asp18Alafs*7) Both (homozygous) - pathogenic (recessive) g.78413408_78416519del g.78121066_78124177del 52_86del - CIB2_000025 - PubMed: Booth 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness L-3156 PubMed: Booth 2018 3-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M - Iran - - - - - 5 LOVD
-?/. - c.54C>T r.(?) p.(Asp18=) Unknown - likely benign g.78416079G>A g.78123737G>A CIB2(NM_001301224.2):c.54C>T (p.D18=) - CIB2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.87-3A>G r.spl? p.? Unknown - benign g.78403621T>C g.78111279T>C CIB2(NM_001301224.2):c.87-1770A>G - CIB2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.97C>T r.(?) p.(Arg33*) Parent #1 - pathogenic g.78403608G>A g.78111266G>A - - CIB2_000006 - - - - Germline - - - - - DNA PCR - - DFNB48 - - - - - Netherlands - - - - - 1 Helger Yntema
+?/. - c.97C>T r.(?) p.(Arg33*) Maternal (confirmed) - likely pathogenic g.78403608G>A g.78111266G>A - - CIB2_000006 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness Fam07-1069 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F no Netherlands - - - - - 1 Mieke Wesdorp
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A g.78111266G>A CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A g.78111266G>A CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>T r.(?) p.(Arg33Ter) Unknown - pathogenic g.78403608G>A - CIB2(NM_006383.3):c.97C>T (p.R33*), CIB2(NM_006383.4):c.97C>T (p.R33*) - CIB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>A r.(?) p.(Val42Ile) Unknown - VUS g.78403581C>T g.78111239C>T CIB2(NM_006383.3):c.124G>A (p.V42I) - CIB2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167T>C r.(?) p.(Met56Thr) Unknown - VUS g.78403538A>G g.78111196A>G CIB2(NM_006383.3):c.167T>C (p.M56T) - CIB2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192G>A r.(?) p.(Glu64=) Unknown - likely benign g.78403513C>T - CIB2(NM_006383.3):c.192G>A (p.E64=) - CIB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.192G>C r.(?) p.(Glu64Asp) Both (homozygous) - pathogenic g.78403513C>G g.78111171C>G - - CIB2_000002 not in 676 control chromosomes PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0004 - rs145415848 Germline yes - - - - DNA SEQ - - USH1J FamPKDF117 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 6-generation family, 4 affecteds (1F, 3M), unaffected carrier parents - yes Pakistan - - - - - 4 Johan den Dunnen
+?/. 3 c.196C>T r.(?) p.(Arg66Trp) Both (homozygous) - likely pathogenic (recessive) g.78403509G>A g.78111167G>A - - CIB2_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline ? - - - - DNA PCR - - DFNB48 W06-0987 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M no Netherlands - - - - - 1 Helger Yntema
+?/. - c.196C>T r.(?) p.(Arg66Trp) Paternal (inferred) - likely pathogenic (recessive) g.78403509G>A g.78111167G>A - - CIB2_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness Fam07-1069 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F no Netherlands - - - - - 1 Mieke Wesdorp
+/. 3 c.196C>T r.(?) p.(Arg66Trp) Parent #1 - pathogenic (recessive) g.78403509G>A g.78111167G>A - - CIB2_000001 - PubMed: Booth 2018 - - Germline - - - - - DNA SEQ-NG - - deafness Trio-B PubMed: Booth 2018 2-generation family, 1 affected, unaffected parents F - United States Europe - - - - 1 Global Variome, with Curator vacancy
+/. - c.198+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.78403506C>T g.78111164C>T - - CIB2_000024 - PubMed: Booth 2018 - - Germline - - - - - DNA SEQ-NG - - deafness 51550 PubMed: Booth 2018 2-generation family, 1 affected, unaffected parents F - United States Europe - - - - 1 LOVD
-?/. - c.199-73T>C r.(=) p.(=) Unknown - likely benign g.78401797A>G g.78109455A>G CIB2(NM_001301224.2):c.141T>C (p.A47=) - CIB2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223G>A r.(?) p.(Val75Met) Parent #1 - VUS g.78401700C>T - - - CIB2_000021 - PubMed: Booth 2015 - - Germline - - - - - 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
+?/. - c.223G>A r.(?) p.(Val75Met) Both (homozygous) - VUS g.78401700C>T - - - CIB2_000021 - PubMed: Booth 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - deafness FamL-8900092PatII2 PubMed: Booth 2015 sister F - Iran - - - - - 1 Anne-Françoise Roux
+/. - c.223G>A r.(?) p.(Val75Met) Both (homozygous) - pathogenic (recessive) g.78401700C>T g.78109358C>T - - CIB2_000021 - PubMed: Booth 2018 - - Germline - - - - - DNA SEQ-NG - - deafness Trio-C PubMed: Booth 2018 2-generation family, 1 affected, unaffected parents M - United States Europe - - - - 1 LOVD
?/. - c.223G>A r.(?) p.(Val75Met) Unknown - VUS g.78401700C>T - - - CIB2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231G>A r.(?) p.(Ala77=) Unknown - likely benign g.78401692C>T g.78109350C>T CIB2(NM_006383.3):c.231G>A (p.A77=) - CIB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238G>A r.(?) p.(Glu80Lys) Unknown - VUS g.78401685C>T g.78109343C>T CIB2(NM_001301224.2):c.253G>A (p.E85K) - CIB2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline yes - - - - DNA PCR - - DFNB48 W09-1575 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 6-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Netherlands Pakistan - - - - 6 Helger Yntema
+/. - c.272T>C r.(?) p.(Phe91Ser) Parent #1 - pathogenic g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012 - - Germline - 1/1068 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Riazuddin 2012, Journal: Riazuddin 2012 534 controls - - Pakistan - - - - - 1 Johan den Dunnen
+/. 4 c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0001 - rs397515411 Germline yes - - - - DNA SEQ - - DFNB48 FamPKDF356 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 7-generation family, 9 affecteds (5F, 4M), unaffected carrier parents - yes Pakistan - - - - - 9 Johan den Dunnen
+/. 4 c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0001 - rs397515411 Germline yes - - - - DNA SEQ - - DFNB48 FamPKDF282 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 6-generation family, 4 affecteds (2F, 4M), unaffected carrier parents - yes Pakistan - - - - - 6 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G - - - CIB2_000005 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline yes - - - - DNA SEQ - - deafness W09-1600 PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 3-generation family, 4 affected sibs (3F, M), unaffected heterozygous carrier parents F;M - Pakistan - - - - - 4 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4042 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4053 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4630 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4722 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4749 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4785 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4789 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4791 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4793 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4868 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4870 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1093 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1285 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF520 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.272T>C r.(?) p.(Phe91Ser) Both (homozygous) - pathogenic (recessive) g.78401651A>G g.78109309A>G - - CIB2_000005 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF781 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.289G>A r.(?) p.(Val97Met) Unknown - VUS g.78401634C>T - CIB2(NM_006383.4):c.289G>A (p.(Val97Met)) - CIB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.297C>G r.(?) p.(Cys99Trp) Both (homozygous) - pathogenic g.78401626G>C g.78109284G>C - - CIB2_000004 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0002 - rs370965183 Germline yes - - - - DNA SEQ - - DFNB48 FamDEM4225 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 4-generation family, 4 affecteds (4M), unaffected carrier parents M yes Pakistan - - - - - 4 Johan den Dunnen
+/. - c.297C>G r.(?) p.(Cys99Trp) Parent #1 - pathogenic g.78401626G>C g.78109284G>C - - CIB2_000004 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0002 - rs370965183 Germline - 5/1068 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Riazuddin 2012, Journal: Riazuddin 2012 534 controls - - Pakistan - - - - - 5 Johan den Dunnen
+/. - c.297C>G r.(?) p.(Cys99Trp) Both (homozygous) - pathogenic g.78401626G>C g.78109284G>C - - CIB2_000004 - PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0002 - rs370965183 Germline yes - - - - DNA SEQ - - DFNB48 FamDEM4025 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 6-generation family, 5 affecteds (3F, 2M), unaffected carrier parents - yes Pakistan - - - - - 5 Johan den Dunnen
+/. - c.297C>G r.(?) p.(Cys99Trp) Both (homozygous) - pathogenic (recessive) g.78401626G>C g.78109284G>C - - CIB2_000004 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKZA13 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.300_309del r.(?) p.(Glu100AspfsTer28) Unknown - pathogenic g.78401614_78401623del g.78109272_78109281del - - CIB2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.300_309del r.(?) p.(Cys100*) Parent #2 - pathogenic (recessive) g.78401614_78401623del g.78109272_78109281del - - CIB2_000014 - PubMed: Booth 2018 - - Germline - - - - - DNA SEQ-NG - - deafness Trio-B PubMed: Booth 2018 2-generation family, 1 affected, unaffected parents F - United States Europe - - - - 1 Global Variome, with Curator vacancy
+/. - c.300_309delGTCGGCTCCC r.(?) p.(Glu100AspfsTer28) Maternal (confirmed) ACMG pathogenic g.78401614_78401623del - - - CIB2_000014 - Mansard 2021, submitted - rs765741202 Germline - - - - - DNA SEQ-NG, SEQ - - USH1 - PubMed: Mansard et al, 2021 - F - - - - - - - 1 Anne-Françoise Roux
?/. - c.311G>A r.(?) p.(Arg104Gln) Parent #1 - VUS g.78401612C>T g.78109270C>T - - CIB2_000020 no variant 2nd chromosome PubMed: Fuster-Garcia 2018 - - Germline - - - - - DNA arraySEQ - - retinal disease RP1571 PubMed: Fuster-Garcia 2018 analysis 77 USH patients - - Spain - - - - - 1 Global Variome, with Curator vacancy
+/. - c.330T>A r.(?) p.(Tyr110*) Both (homozygous) - pathogenic (recessive) g.78401593A>T g.78109251A>T - - CIB2_000023 - PubMed: Booth 2018 - - Germline yes - - - - DNA SEQ-NG - - deafness 661 PubMed: Booth 2018 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - - - - - 2 LOVD
+/. 4 c.344A>G r.(?) p.(Tyr115Cys) Both (homozygous) - pathogenic (recessive) g.78401579T>C g.78109237T>C - - CIB2_000017 - PubMed: Booth 2018 - - Germline yes - - - - DNA SEQ-NG - - HL L-1644 PubMed: Booth 2018 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 3 Global Variome, with Curator vacancy
+/. - c.368T>C r.(?) p.(Ile123Thr) Both (homozygous) - pathogenic g.78398255A>G g.78105913A>G - - CIB2_000003 not in 724 control chromosomes PubMed: Riazuddin 2012, Journal: Riazuddin 2012, OMIM:var0003 - rs397515412 Germline yes - - - - DNA SEQ - - DFNB48 Fam802 PubMed: Riazuddin 2012, Journal: Riazuddin 2012 5-generation family, 7 affecteds (3F, 4M), unaffected carrier parents - yes Turkey - - - - - 7 Johan den Dunnen
?/. - c.448G>A r.(?) p.(Asp150Asn) Unknown - VUS g.78398175C>T g.78105833C>T CIB2(NM_001301224.1):c.463G>A (p.D155N) - SH2D7_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462G>A r.(?) p.(Glu154=) Unknown - likely benign g.78398161C>T g.78105819C>T CIB2(NM_001301224.1):c.477G>A (p.E159=) - SH2D7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.473T>G r.(?) p.(Leu158Trp) Unknown - VUS g.78398150A>C g.78105808A>C CIB2(NM_001301224.1):c.488T>G (p.L163W) - SH2D7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516G>C r.(?) p.(Met172Ile) Unknown - VUS g.78398107C>G - CIB2(NM_001301224.1):c.531G>C (p.M177I) - SH2D7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523A>C r.(?) p.(Lys175Gln) Unknown - VUS g.78398100T>G g.78105758T>G CIB2(NM_006383.3):c.523A>C (p.K175Q) - SH2D7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.523A>C r.(?) p.(Lys175Gln) Unknown - VUS g.78398100T>G g.78105758T>G CIB2(NM_006383.3):c.523A>C (p.K175Q) - SH2D7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.556C>T r.(?) p.(Arg186Trp) Both (homozygous) - pathogenic (recessive) g.78397661G>A g.78105319G>A - - CIB2_000022 - PubMed: Patel 2015 - - Germline yes - - - - DNA SEQ-NG - WES deafness FamJSPat001/002 PubMed: Patel 2015 2-generation family, affectedsister/brother, unaffected parents F;M - United States Hispanic - - - - 1 LOVD
-?/. - c.*4219G>A r.(=) p.(=) Unknown - likely benign g.78393434C>T g.78101092C>T SH2D7(NM_001101404.1):c.839C>T (p.(Ala280Val)) - SH2D7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4301G>A r.(=) p.(=) Unknown - likely benign g.78393352C>T g.78101010C>T SH2D7(NM_001101404.1):c.757C>T (p.(Arg253Trp)) - SH2D7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4388G>T r.(=) p.(=) Unknown - VUS g.78393265C>A g.78100923C>A SH2D7(NM_001101404.1):c.670C>A (p.(Pro224Thr)) - SH2D7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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