Full data view for gene GPSM2

Information The variants shown are described using the NM_013296.4 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-258C>T r.(?) p.(=) Unknown - benign g.109419841C>T g.108877219C>T - - GPSM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.-2C>T r.(=) p.(=) Parent #1 - VUS g.109428143C>T g.108885521C>T - - GPSM2_000025 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.57-10A>G r.(=) p.(=) Unknown - likely benign g.109439476A>G - GPSM2(NM_013296.5):c.57-10A>G - GPSM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122G>A r.(?) p.(Arg41His) Unknown - VUS g.109439551G>A - GPSM2(NM_013296.5):c.122G>A (p.R41H) - GPSM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 4 c.249A>G r.(=) p.(=) Parent #1 - likely benign g.109439678A>G g.108897056A>G - - GPSM2_000026 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.379C>T r.(?) p.(Arg127*) Both (homozygous) ACMG pathogenic g.109440214C>T g.108897592C>T - - GPSM2_000001 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - Chudley-McCullough syndrome - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/? 4 c.379C>T r.(?) p.(Arg127*) Both (homozygous) - pathogenic g.109440214C>T g.108897592C>T chr1:109,440,214C>T - GPSM2_000001 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Walsh 2010, PubMed: Doherty 2012, OMIM:var0001 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, 7 affecteds, unaffected heterozygous family members M yes Palestine - >26y 0 - - 7 -
+/? 4 c.379C>T r.379c>u p.Arg127* Parent #1 - pathogenic g.109440214C>T g.108897592C>T - - GPSM2_000001 lymphoblast RNA stable transcript PubMed: Walsh 2010 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - - 4-generation family, unaffected parent F yes Palestine - - 0 - - 1 -
+/+ 5 c.379C>T r.(?) p.(Arg127*) Parent #1 - pathogenic g.109440214C>T g.108897592C>T - - GPSM2_000001 - MORL Deafness Variation Database, PubMed: Doherty 2012, PubMed: Walsh 2010, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - DNA ? - - HL - PubMed: Doherty 2012, PubMed: Walsh 2010, PubMed: Xiong 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.380G>A r.(?) p.(Arg127Gln) Unknown - benign g.109440215G>A g.108897593G>A - - GPSM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 6 c.459_460del r.(?) p.(Ala154Glnfs*32) Parent #1 - pathogenic g.109440625_109440626del g.108898003_108898004del - - GPSM2_000027 - MORL Deafness Variation Database, PubMed: Doherty 2012, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - Chudley-McCullough syndrome - PubMed: Doherty 2012, PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 6 c.529G>A r.(?) p.(Ala177Thr) Parent #1 - VUS g.109440695G>A g.108898073G>A - - GPSM2_000028 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.557+2T>C r.spl? p.? Unknown - likely pathogenic g.109440725T>C g.108898103T>C GPSM2(NM_001321039.1):c.557+2T>C - GPSM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592C>T r.(?) p.(Arg198Ter) Unknown - pathogenic g.109441298C>T g.108898676C>T GPSM2(NM_013296.5):c.592C>T (p.R198*) - GPSM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 7 c.593G>A r.(?) p.(Arg198Gln) Parent #1 - VUS g.109441299G>A g.108898677G>A - - GPSM2_000029 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Paternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >17y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Maternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >17y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Paternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >21y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Maternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >21y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Paternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States European >2y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Maternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States European >2y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Maternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? Netherlands European >10y 0 - - 1 -
+/? 7 c.742del r.(?) p.(Gly249Glufs*32) Maternal (confirmed) - pathogenic g.109441561del g.108898939del 742delC (N247NfsX34) - GPSM2_000004 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? Netherlands European >4y 0 - - 1 -
+/. - c.742del r.(?) p.(Gly249GlufsTer32) Unknown - pathogenic g.109441561del g.108898939del GPSM2(NM_001321039.1):c.742delC (p.G249Efs*32), GPSM2(NM_013296.5):c.742delC (p.G249Efs*32) - GPSM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.742del r.(?) p.(Gly249Glufs*32) Parent #1 - pathogenic g.109441561del g.108898939del - - GPSM2_000010 - MORL Deafness Variation Database, PubMed: Doherty 2012 - - SUMMARY record - - - 0 - DNA ? - - Chudley-McCullough syndrome - PubMed: Doherty 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.742del r.(?) p.(Gly249GlufsTer32) Unknown - pathogenic g.109441561del - GPSM2(NM_001321039.1):c.742delC (p.G249Efs*32), GPSM2(NM_013296.5):c.742delC (p.G249Efs*32) - GPSM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.785C>T r.(?) p.(Ser262Leu) Unknown - likely benign g.109441604C>T g.108898982C>T GPSM2(NM_013296.4):c.785C>T (p.(Ser262Leu)) - GPSM2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.833G>A r.(?) p.(Arg278Gln) Unknown - VUS g.109444447G>A g.108901825G>A - - GPSM2_000038 - - - rs190381417 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
?/. - c.842A>G r.(?) p.(Glu281Gly) Unknown - VUS g.109444456A>G - GPSM2(NM_013296.5):c.842A>G (p.E281G) - GPSM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.877A>G r.(?) p.(Thr293Ala) Unknown - VUS g.109444491A>G g.108901869A>G GPSM2(NM_001321039.1):c.877A>G (p.T293A) - GPSM2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 10 c.1021G>A r.(?) p.(Ala341Thr) Parent #1 - VUS g.109445815G>A g.108903193G>A - - GPSM2_000030 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.1028_1040del r.(?) p.(His343ArgfsTer16) Unknown - pathogenic g.109445822_109445834del g.108903200_108903212del - - GPSM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9i c.1062+1G>T r.954_1062del p.Ile319Leufs*8 Paternal (confirmed) - pathogenic g.109445857G>T g.108903235G>T R318RfsX - GPSM2_000006 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - Chudley-McCullough syndrome - - - F ? United States Mexican American >7y 0 - - 1 -
+/? 9i c.1062+1G>T r.954_1062del p.Ile319Leufs*8 Maternal (confirmed) - pathogenic g.109445857G>T g.108903235G>T R318RfsX - GPSM2_000006 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - Chudley-McCullough syndrome - - - F ? United States Mexican American >7y 0 - - 1 -
+/? 9i c.1062+1G>T r.954_1062del p.Ile319Leufs*8 Paternal (confirmed) - pathogenic g.109445857G>T g.108903235G>T R318RfsX - GPSM2_000006 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - Chudley-McCullough syndrome - - - M ? United States Mexican American >6y 0 - - 1 -
+/? 9i c.1062+1G>T r.954_1062del p.Ile319Leufs*8 Maternal (confirmed) - pathogenic g.109445857G>T g.108903235G>T R318RfsX - GPSM2_000006 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA, RNA RT-PCR, SEQ - - Chudley-McCullough syndrome - - - M ? United States Mexican American >6y 0 - - 1 -
?/. - c.1066G>A r.(?) p.(Gly356Arg) Parent #1 - VUS g.109446750G>A g.108904128G>A - - GPSM2_000036 conflicting interpretations of pathogenicity; 28 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754640 Germline - 28/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 28 Mohammed Faruq
?/. - c.1066G>A r.(?) p.(Gly356Arg) Both (homozygous) - VUS g.109446750G>A g.108904128G>A - - GPSM2_000036 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61754640 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.1093C>T r.(?) p.(Arg365Ter) Unknown - likely pathogenic g.109446777C>T g.108904155C>T GPSM2(NM_013296.5):c.1093C>T (p.R365*) - GPSM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1093C>T r.(?) p.(Arg365*) Parent #1 - pathogenic g.109446777C>T g.108904155C>T - - GPSM2_000013 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - Chudley-McCullough syndrome - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 11i c.1193-1G>C r.spl? p.? Parent #1 - likely pathogenic g.109456959G>C g.108914337G>C - - GPSM2_000031 - MORL Deafness Variation Database - - SUMMARY record - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1216C>T r.(?) p.(Arg406Trp) Unknown - likely benign g.109456983C>T g.108914361C>T GPSM2(NM_013296.5):c.1216C>T (p.R406W) - GPSM2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1216C>T r.(?) p.(Arg406Trp) Parent #1 - likely benign g.109456983C>T g.108914361C>T - - GPSM2_000014 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141562079 Germline - 11/2790 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
-?/. - c.1359A>G r.(?) p.(Lys453=) Unknown - likely benign g.109461330A>G - GPSM2(NM_013296.5):c.1359A>G (p.K453=) - GPSM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1370C>T r.(?) p.(Thr457Met) Parent #1 - VUS g.109461341C>T g.108918719C>T - - GPSM2_000037 conflicting interpretations of pathogenicity; 258 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35089879 Germline - 258/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 258 Mohammed Faruq
?/. - c.1370C>T r.(?) p.(Thr457Met) Both (homozygous) - VUS g.109461341C>T g.108918719C>T - - GPSM2_000037 conflicting interpretations of pathogenicity; 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35089879 Germline - 9/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
-?/-? 13i c.1440+15A>G r.(=) p.(=) Parent #1 - likely benign g.109461426A>G g.108918804A>G - - GPSM2_000032 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1472G>C r.(?) p.(Gly491Ala) Unknown - VUS g.109465070G>C g.108922448G>C GPSM2(NM_013296.5):c.1472G>C (p.G491A) - GPSM2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Paternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >1y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Maternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >1y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Paternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >25y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Maternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >25y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Paternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >12y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Maternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - M ? United States Mennonite >12y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Paternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >15y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Maternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >15y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Paternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >4y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Maternal (confirmed) - pathogenic g.109465071del g.108922449del 1471delG (G491GfsX6) - GPSM2_000003 homozygosity mapping, exome sequencing; not in 768 control chromosomes (384 control, 384 unrelated hearing loss) PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? United States Mennonite >4y 0 - - 1 -
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Unknown - pathogenic g.109465071del g.108922449del - - GPSM2_000003 exome sequencing Almomani et al, submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - Chudley-McCullough syndrome - - - F no Netherlands - - 0 - - 1 Gijs Santen
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Unknown - pathogenic g.109465071del g.108922449del - - GPSM2_000003 exome sequencing Almomani et al, submitted - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - Chudley-McCullough syndrome - - - F no Netherlands - - 0 - - 1 Gijs Santen
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Both (homozygous) - pathogenic g.109465071del g.108922449del - - GPSM2_000003 exome sequencing Almomani et al, submitted - - Germline - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F no Netherlands - - 0 - - 1 Gijs Santen
+/? 13 c.1473del r.(?) p.(Phe492Serfs*5) Both (homozygous) - pathogenic g.109465071del g.108922449del - - GPSM2_000003 exome sequencing Almomani et al, submitted - - Germline - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F no Netherlands - - 0 - - 1 Gijs Santen
+/+ 14 c.1473del r.(?) p.(Phe492Serfs*5) Parent #1 - pathogenic g.109465071del g.108922449del - - GPSM2_000011 - MORL Deafness Variation Database, PubMed: Doherty 2012, PubMed: Schrauwen 2013 - - SUMMARY record - - - 0 - DNA ? - - Chudley-McCullough syndrome - PubMed: Doherty 2012, PubMed: Schrauwen 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/+ 14 c.1492C>T r.(?) p.(Arg498*) Parent #1 - pathogenic g.109465090C>T g.108922468C>T - - GPSM2_000033 - MORL Deafness Variation Database, PubMed: Diaz-Horta 2012 - - SUMMARY record - - - 0 - DNA ? - - Chudley-McCullough syndrome - PubMed: Diaz-Horta 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1566_1568del r.(?) p.(Thr523del) Unknown - VUS g.109465164_109465166del g.108922542_108922544del GPSM2(NM_013296.5):c.1566_1568delAAC (p.T523del) - GPSM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1631C>T r.(?) p.(Thr544Met) Unknown - VUS g.109466652C>T g.108924030C>T - - GPSM2_000039 - - - rs191870755 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - Germany - - 0 - - 1 Andreas Laner
+/? 14 c.1661C>A r.(?) p.(Ser554*) Paternal (confirmed) - pathogenic g.109466682C>A g.108924060C>A - - GPSM2_000005 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? Netherlands European >10y 0 - - 1 -
+/? 14 c.1661C>A r.(?) p.(Ser554*) Paternal (confirmed) - pathogenic g.109466682C>A g.108924060C>A - - GPSM2_000005 - PubMed: Doherty 2012 - - Unknown - - - 0 - DNA SEQ - - Chudley-McCullough syndrome - - - F ? Netherlands European >4y 0 - - 1 -
?/? 14 c.1661C>A r.(?) p.(Ser554*) Unknown - VUS g.109466682C>A g.108924060C>A - - GPSM2_000005 - {dbSNP145191476} - - Unknown - 1/7020 - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 1 -
+/. - c.1661C>A r.(?) p.(Ser554*) Unknown - pathogenic g.109466682C>A - GPSM2(NM_013296.5):c.1661C>A (p.S554*) - GPSM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1670G>A r.(?) p.(Arg557His) Unknown - likely benign g.109466691G>A g.108924069G>A GPSM2(NM_013296.4):c.1670G>A (p.(Arg557His)) - GPSM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Paternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV1 F yes Turkey - >16y 0 - - 1 -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Maternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV1 F yes Turkey - >16y 0 - - 1 -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Paternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV2 M yes Turkey - >12y 0 - - 1 -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Maternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV2 M yes Turkey - >12y 0 - - 1 -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Paternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV3 M yes Turkey - >16y 0 - - 1 -
+/? 14 c.1684C>T r.(?) p.(Gln562*) Maternal (confirmed) - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, PubMed: Doherty 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - DFNB - - 4-generation family, affected IV3 M yes Turkey - >16y 0 - - 1 -
+/? 14 c.1684C>T r.1684c>u p.Gln562* Parent #1 - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 homozygosity mapping; not in 346 control chromosomes PubMed: Yariz 2012, OMIM:var0002 - - Unknown - - - 0 - DNA SEQ - - Healthy/Control - - 4-generation family, unaffected heterozygous parent - yes Turkey - - 0 - - 1 -
+/+ 15 c.1684C>T r.(?) p.(Gln562*) Parent #1 - pathogenic g.109466705C>T g.108924083C>T - - GPSM2_000002 - MORL Deafness Variation Database, PubMed: Doherty 2012, PubMed: Yariz 2012 - - SUMMARY record - - - 0 - DNA ? - - HL - PubMed: Doherty 2012, PubMed: Yariz 2012 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 16 c.1876G>C r.(?) p.(Val626Leu) Parent #1 - VUS g.109472383G>C g.108929761G>C - - GPSM2_000034 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/? 16 c.1909C>T r.(?) p.(Arg637Trp) Parent #1 - VUS g.109472416C>T g.108929794C>T - - GPSM2_000035 - MORL Deafness Variation Database, PubMed: Richards 2015 - - SUMMARY record - - - 0 - DNA ? - - - - PubMed: Richards 2015 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.2022dup r.(?) p.(Lys675Ter) Unknown - pathogenic g.109472529dup g.108929907dup GPSM2(NM_013296.5):c.2022dupT (p.K675*) - GPSM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4751C>G r.(=) p.(=) Unknown - likely benign g.109477313C>G - CLCC1(NM_001048210.2):c.1635G>C (p.P545=) - CLCC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4900G>C r.(=) p.(=) Unknown - likely benign g.109477462G>C - CLCC1(NM_001048210.2):c.1486C>G (p.P496A) - CLCC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10144G>C r.(=) p.(=) Unknown - likely benign g.109482706G>C g.108940084G>C CLCC1(NM_001048210.2):c.855C>G (p.L285=) - GPSM2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20395C>T r.(=) p.(=) Unknown - VUS g.109492957C>T - CLCC1(NM_001048210.2):c.103G>A (p.A35T) - CLCC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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