Full data view for gene OTOGL

Information The variants shown are described using the NM_173591.3 transcript reference sequence.

202 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.66A>G r.(?) p.(Ala22=) Unknown - likely benign g.80604640A>G g.80210860A>G OTOGL(NM_173591.3):c.66A>G (p.A22=) - OTOGL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69G>A r.(?) p.(Ser23=) Unknown - likely benign g.80604643G>A g.80210863G>A OTOGL(NM_173591.3):c.69G>A (p.S23=) - OTOGL_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98G>T r.(?) p.(Gly33Val) Unknown - VUS g.80605734G>T g.80211954G>T OTOGL(NM_173591.3):c.98G>T (p.G33V) - OTOGL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174T>C r.(?) p.(His58=) Unknown - likely benign g.80611410T>C g.80217630T>C OTOGL(NM_173591.3):c.174T>C (p.H58=) - OTOGL_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209-9C>G r.(=) p.(=) Unknown - likely benign g.80613585C>G - OTOGL(NM_001378609.3):c.236-9C>G - OTOGL_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.209-5dup r.spl? p.? Unknown - benign g.80613589dup g.80219809dup OTOGL(NM_173591.3):c.209-5dupC - OTOGL_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.209-2A>G r.spl? p.? Unknown - likely pathogenic g.80613592A>G - - - OTOGL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.228C>A r.(?) p.(Cys76Ter) Unknown - pathogenic g.80613613C>A g.80219833C>A OTOGL(NM_173591.3):c.228C>A (p.(Cys76*)) - OTOGL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.228C>A r.(?) p.(Cys76Ter) Unknown - likely pathogenic g.80613613C>A - OTOGL(NM_173591.3):c.228C>A (p.(Cys76*)) - OTOGL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.301C>T r.(?) p.(Gln101Ter) Unknown - pathogenic g.80613686C>T g.80219906C>T - - OTOGL_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.462G>A r.(?) p.(Trp154*) Unknown - likely pathogenic g.80616025G>A - OTOGL(NM_001378609.3):c.489G>A (p.(Trp163*)) - OTOGL_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.547C>T r.(?) p.(Arg183Ter) Unknown - pathogenic g.80623121C>T g.80229341C>T - - OTOGL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.547C>T r.(?) p.(Arg183*) Parent #1 - pathogenic g.80623121C>T g.80229341C>T - - OTOGL_000027 - MORL Deafness Variation Database, PubMed: Yariz 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Yariz 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.692G>C r.(?) p.(Gly231Ala) Unknown - VUS g.80626779G>C g.80232999G>C OTOGL(NM_173591.3):c.692G>C (p.G231A) - OTOGL_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.790+1G>A r.spl? p.? Unknown - pathogenic g.80626878G>A - - - OTOGL_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.814_815del r.(?) p.(Met272ValfsTer4) Unknown - pathogenic g.80632654_80632655del - OTOGL(NM_173591.3):c.814_815delAT (p.M272Vfs*4) - OTOGL_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.825_4834-43delinsCATATTTAACATA r.? p.? Unknown - pathogenic (recessive) g.80632665_80732812delinsCATATTTAACATA - - - OTOGL_000141 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - DFNB84B - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.902G>A r.(?) p.(Gly301Glu) Unknown - likely benign g.80632742G>A g.80238962G>A OTOGL(NM_173591.3):c.902G>A (p.G301E) - OTOGL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.919-1G>A r.spl? p.? Unknown - pathogenic g.80633112G>A g.80239332G>A - - OTOGL_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.930C>T r.(?) p.(=) Unknown - VUS g.80633124C>T - OTOGL(NM_001378609.3):c.957C>T (p.(Phe319=)) - OTOGL_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1051C>T r.(?) p.(Arg351Ter) Unknown - pathogenic g.80645498C>T g.80251718C>T - - OTOGL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1086T>C r.(?) p.(His362=) Unknown - likely benign g.80645533T>C g.80251753T>C OTOGL(NM_173591.3):c.1086T>C (p.H362=) - OTOGL_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1132+1G>C r.spl? p.? Unknown - pathogenic g.80645580G>C g.80251800G>C OTOGL(NM_173591.3):c.1132+1G>C - OTOGL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132+4T>C r.spl? p.? Unknown - likely benign g.80645583T>C g.80251803T>C OTOGL(NM_173591.3):c.1132+4T>C - OTOGL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1133-7G>C r.(=) p.(=) Unknown - likely benign g.80645849G>C g.80252069G>C OTOGL(NM_173591.3):c.1133-7G>C (p.(=)) - OTOGL_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1162C>T r.(?) p.(Arg388Trp) Unknown - VUS g.80645885C>T - OTOGL(NM_173591.3):c.1162C>T (p.R388W) - OTOGL_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1171A>T r.(?) p.(Ile391Phe) Unknown - VUS g.80645894A>T g.80252114A>T OTOGL(NM_001378609.3):c.1198A>T (p.(Ile400Phe)), OTOGL(NM_173591.3):c.1171A>T (p.I391F) - OTOGL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1171A>T r.(?) p.(Ile391Phe) Unknown - likely benign g.80645894A>T g.80252114A>T OTOGL(NM_001378609.3):c.1198A>T (p.(Ile400Phe)), OTOGL(NM_173591.3):c.1171A>T (p.I391F) - OTOGL_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368-3T>C r.spl? p.? Unknown - likely benign g.80648301T>C g.80254521T>C OTOGL(NM_173591.3):c.1368-3T>C - OTOGL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1414+10T>A r.(=) p.(=) Unknown - likely benign g.80648360T>A g.80254580T>A OTOGL(NM_173591.3):c.1414+10T>A - OTOGL_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.1430del r.(?) p.(Val477Glufs*25) Parent #1 - pathogenic g.80648835del g.80255055del - - OTOGL_000113 - MORL Deafness Variation Database, PubMed: Yariz 2012 - - SUMMARY record - - - - - DNA ? - - HL - PubMed: Yariz 2012 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1450A>T r.(?) p.(Thr484Ser) Unknown - VUS g.80648855A>T - OTOGL(NM_001378609.3):c.1477A>T (p.(Thr493Ser)) - OTOGL_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1541del r.(?) p.(Gln514Argfs*17) Unknown - pathogenic g.80648946del - OTOGL(NM_173591.3):c.1541delA (p.Q514Rfs*17) - OTOGL_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1558C>T r.(?) p.(Gln520Ter) Unknown - pathogenic g.80648963C>T g.80255183C>T - - OTOGL_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.1558C>T r.(?) p.(Gln520*) Parent #1 - pathogenic g.80648963C>T g.80255183C>T - - OTOGL_000058 - MORL Deafness Variation Database, PubMed: Bonnet 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Bonnet 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1561-4G>A r.spl? p.? Unknown - likely benign g.80650113G>A g.80256333G>A OTOGL(NM_173591.3):c.1561-4G>A - OTOGL_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1796G>A r.(?) p.(Ser599Asn) Unknown - likely benign g.80651716G>A - OTOGL(NM_173591.3):c.1796G>A (p.S599N) - OTOGL_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.1849del r.(?) p.(Arg617Glyfs*10) Parent #1 - pathogenic g.80651769del g.80257989del - - OTOGL_000114 - MORL Deafness Variation Database, PubMed: Sloan-Heggen 2016 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Sloan-Heggen 2016 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/+? - c.1863-1G>T r.spl? p.? Parent #1 - likely pathogenic g.80655748G>T g.80261968G>T - - OTOGL_000115 - MORL Deafness Variation Database, PubMed: Lim 2013 - - SUMMARY record - - - - - DNA ? - - autism - PubMed: Lim 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1913G>A r.(?) p.(Trp638*) Unknown - pathogenic g.80655799G>A - - - OTOGL_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1963C>T r.(?) p.(Pro655Ser) Unknown - VUS g.80655849C>T g.80262069C>T OTOGL(NM_173591.3):c.1963C>T (p.P655S) - OTOGL_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963C>T r.(?) p.(Pro655Ser) Parent #1 - likely benign g.80655849C>T g.80262069C>T - - OTOGL_000060 34 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76420383 Germline - 34/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 34 Mohammed Faruq
-?/. - c.1963C>T r.(?) p.(Pro655Ser) Both (homozygous) - likely benign g.80655849C>T g.80262069C>T - - OTOGL_000060 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs76420383 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2080C>T r.(?) p.(Arg694Cys) Unknown - VUS g.80658873C>T - OTOGL(NM_001378609.3):c.2107C>T (p.(Arg703Cys)) - OTOGL_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2137G>A r.(?) p.(Ala713Thr) Unknown - VUS g.80658930G>A - OTOGL(NM_173591.3):c.2137G>A (p.A713T) - OTOGL_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2141A>C r.(?) p.(Tyr714Ser) Unknown - VUS g.80658934A>C - OTOGL(NM_001378609.3):c.2168A>C (p.(Tyr723Ser)) - OTOGL_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2223_2224dup r.(?) p.(Tyr742CysfsTer80) Unknown - pathogenic g.80660256_80660257dup g.80266476_80266477dup OTOGL(NM_173591.3):c.2223_2224dupGT (p.(Tyr742fs)) - OTOGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2223_2224dup r.(?) p.(Tyr742CysfsTer80) Unknown - likely pathogenic g.80660256_80660257dup - OTOGL(NM_173591.3):c.2223_2224dupGT (p.(Tyr742fs)) - OTOGL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2228A>G r.(?) p.(His743Arg) Unknown - VUS g.80660261A>G - OTOGL(NM_001378609.3):c.2255A>G (p.(His752Arg)) - OTOGL_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2267dup r.(2267dup) p.(Ser757Leufs*8) Unknown - VUS g.80660300dup g.80266520dup 2267_2268insT - OTOGL_000167 - PubMed: Szczałuba 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD patient;PatB PubMed: Szczałuba 2018, PubMed: Chmielewska 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - 1 Johan den Dunnen
-?/. - c.2276C>T r.(?) p.(Pro759Leu) Unknown - likely benign g.80660309C>T - OTOGL(NM_173591.3):c.2276C>T (p.P759L) - OTOGL_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2277G>A r.(?) p.(Pro759=) Unknown - VUS g.80660310G>A - - - OTOGL_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2318C>T r.(?) p.(Pro773Leu) Unknown - VUS g.80660351C>T g.80266571C>T OTOGL(NM_173591.3):c.2318C>T (p.P773L) - OTOGL_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2318C>T r.(?) p.(Pro773Leu) Parent #1 ACMG VUS g.80660351C>T g.80266571C>T - - OTOGL_000061 ACMG PM3, PP3, BS2 PubMed: Astuti 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease FamF PubMed: Astuti 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Algeria - - - - - 1 LOVD
?/. - c.2362A>G r.(?) p.(Ile788Val) Unknown - VUS g.80660395A>G g.80266615A>G OTOGL(NM_173591.3):c.2362A>G (p.I788V) - OTOGL_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2364-2A>G r.spl? p.? Unknown - likely pathogenic g.80661031A>G g.80267251A>G - - OTOGL_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2429C>T r.(?) p.(Ser810Leu) Unknown - likely benign g.80661098C>T g.80267318C>T OTOGL(NM_173591.3):c.2429C>T (p.S810L) - OTOGL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2429C>T r.(?) p.(Ser810Leu) Unknown - VUS g.80661098C>T g.80267318C>T OTOGL(NM_173591.3):c.2429C>T (p.S810L) - OTOGL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2490T>C r.(?) p.(Ala830=) Unknown - likely benign g.80663933T>C g.80270153T>C OTOGL(NM_173591.3):c.2490T>C (p.(=)) - OTOGL_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2491+18G>A r.(=) p.(=) Unknown - benign g.80663952G>A g.80270172G>A - - OTOGL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2523C>T r.(?) p.(Phe841=) Unknown - benign g.80665459C>T g.80271679C>T OTOGL(NM_173591.3):c.2523C>T (p.F841=) - OTOGL_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2523C>T r.(=) p.(=) Parent #1 - likely benign g.80665459C>T g.80271679C>T - - OTOGL_000065 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77835094 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.2533T>C r.(?) p.(Phe845Leu) Unknown - VUS g.80665469T>C g.80271689T>C - - OTOGL_000001 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
?/. - c.2537C>T r.(?) p.(Pro846Leu) Unknown - VUS g.80665473C>T g.80271693C>T OTOGL(NM_173591.3):c.2537C>T (p.P846L, p.(Pro846Leu)) - OTOGL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2537C>T r.(?) p.(Pro846Leu) Unknown - VUS g.80665473C>T - OTOGL(NM_173591.3):c.2537C>T (p.P846L, p.(Pro846Leu)) - OTOGL_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2588A>C r.(?) p.(Asn863Thr) Unknown - VUS g.80665524A>C g.80271744A>C OTOGL(NM_173591.3):c.2588A>C (p.N863T) - OTOGL_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2629A>T r.(?) p.(Ile877Leu) Unknown - likely benign g.80665565A>T g.80271785A>T OTOGL(NM_173591.3):c.2629A>T (p.I877L) - OTOGL_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2762+9A>G r.(=) p.(=) Unknown - benign g.80672064A>G g.80278284A>G OTOGL(NM_173591.7):c.2789+9A>G - OTOGL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2762+9A>G r.(=) p.(=) Unknown - benign g.80672064A>G g.80278284A>G OTOGL(NM_173591.7):c.2789+9A>G - OTOGL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.2763-189G>T r.spl? p.? Parent #1 - likely pathogenic g.80672619G>T - - - OTOGL_000116 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. MORL Deafness Variation Database - - SUMMARY record - - - - - DNA ? - - deafness - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2773C>T r.(?) p.(Arg925Ter) Unknown - pathogenic g.80672818C>T g.80279038C>T - - OTOGL_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.2773C>T r.(?) p.(Arg925*) Parent #1 - pathogenic g.80672818C>T g.80279038C>T - - OTOGL_000067 - MORL Deafness Variation Database, PubMed: Bonnet 2013 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Bonnet 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2804G>A r.(?) p.(Cys935Tyr) Unknown - VUS g.80672849G>A - OTOGL(NM_001378609.3):c.2831G>A (p.(Cys944Tyr)) - OTOGL_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2833C>T r.(?) p.(Arg945Ter) Unknown - pathogenic g.80672878C>T g.80279098C>T OTOGL(NM_173591.3):c.2833C>T (p.R945*) - OTOGL_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2833C>T r.(?) p.(Arg945Ter) Unknown - pathogenic g.80672878C>T - OTOGL(NM_173591.3):c.2833C>T (p.R945*) - OTOGL_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2833C>T r.(?) p.(Arg945*) Parent #2 ACMG pathogenic (recessive) g.80672878C>T g.80279098C>T - - OTOGL_000123 ACMG PVS1, PM3 PubMed: Astuti 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease FamF PubMed: Astuti 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Algeria - - - - - 1 LOVD
-?/. - c.2902-7A>G r.(=) p.(=) Unknown - likely benign g.80690600A>G - OTOGL(NM_001378609.3):c.2929-7A>G - OTOGL_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2909A>G r.(?) p.(Asp970Gly) Unknown - VUS g.80690614A>G g.80296834A>G OTOGL(NM_173591.3):c.2909A>G (p.D970G) - OTOGL_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3042A>G r.(?) p.(Gln1014=) Unknown - likely benign g.80696419A>G g.80302639A>G OTOGL(NM_173591.3):c.3042A>G (p.Q1014=) - OTOGL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3054dup r.(?) p.(Leu1019SerfsTer31) Unknown - pathogenic g.80696425dup - - - OTOGL_000129 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+?/. - c.3054dup r.(?) p.(Leu1019Serfs*31) Unknown - likely pathogenic g.80696431dup - OTOGL(NM_001378609.3):c.3081dup (p.(Leu1028Serfs*31)) - OTOGL_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3098A>G r.(?) p.(Tyr1033Cys) Parent #1 - benign g.80696475A>G g.80302695A>G - - OTOGL_000069 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12304169 Germline - 1/2701 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.3157A>T r.(?) p.(Ile1053Phe) Unknown - VUS g.80696534A>T - OTOGL(NM_173591.3):c.3157A>T (p.I1053F) - OTOGL_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3164_3165insAAA r.(?) p.(Ile1055_Lys1056insAsn) Unknown - VUS g.80696541_80696542insAAA g.80302761_80302762insAAA - - OTOGL_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3228T>C r.(?) p.(Thr1076=) Unknown - likely benign g.80699397T>C g.80305617T>C OTOGL(NM_173591.3):c.3228T>C (p.T1076=) - OTOGL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3250A>C r.(?) p.(Asn1084His) Unknown - VUS g.80699419A>C g.80305639A>C OTOGL(NM_001378609.3):c.3277A>C (p.(Asn1093His)), OTOGL(NM_173591.3):c.3250A>C (p.N1084H) - OTOGL_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3250A>C r.(?) p.(Asn1084His) Unknown - VUS g.80699419A>C - OTOGL(NM_001378609.3):c.3277A>C (p.(Asn1093His)), OTOGL(NM_173591.3):c.3250A>C (p.N1084H) - OTOGL_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3306G>T r.(?) p.(Gln1102His) Unknown - benign g.80699475G>T g.80305695G>T - - OTOGL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3329T>C r.(?) p.(Ile1110Thr) Unknown - likely benign g.80704413T>C g.80310633T>C OTOGL(NM_173591.3):c.3329T>C (p.I1110T) - OTOGL_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3366T>C r.(?) p.(Tyr1122=) Unknown - likely benign g.80704450T>C g.80310670T>C OTOGL(NM_173591.3):c.3366T>C (p.Y1122=) - OTOGL_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3374A>G r.(?) p.(Lys1125Arg) Unknown - VUS g.80704458A>G - OTOGL(NM_173591.3):c.3374A>G (p.K1125R) - OTOGL_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3400A>G r.(?) p.(Ile1134Val) Unknown - likely benign g.80704484A>G g.80310704A>G OTOGL(NM_173591.3):c.3400A>G (p.I1134V) - OTOGL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3424-20T>A r.(=) p.(=) Unknown - benign g.80707236T>A g.80313456T>A - - OTOGL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3461A>G r.(?) p.(Asp1154Gly) Unknown - VUS g.80707293A>G - OTOGL(NM_173591.3):c.3461A>G (p.D1154G) - OTOGL_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3473G>A r.(?) p.(Cys1158Tyr) Unknown - VUS g.80707305G>A - OTOGL(NM_001378609.3):c.3500G>A (p.(Cys1167Tyr)) - OTOGL_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3505A>G r.(?) p.(Thr1169Ala) Unknown - VUS g.80707337A>G - OTOGL(NM_001378609.3):c.3532A>G (p.(Thr1178Ala)) - OTOGL_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3506C>T r.(?) p.(Thr1169Ile) Unknown - VUS g.80707338C>T - OTOGL(NM_001378609.3):c.3533C>T (p.(Thr1178Ile)) - OTOGL_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3515C>G r.(?) p.(Ala1172Gly) Unknown - VUS g.80707347C>G - - - OTOGL_000074 - - - rs370905822 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3527A>G r.(?) p.(Tyr1176Cys) Unknown - VUS g.80707359A>G - - - OTOGL_000075 - - - rs762161276 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3530A>G r.(?) p.(Lys1177Arg) Unknown - VUS g.80707362A>G g.80313582A>G OTOGL(NM_173591.3):c.3530A>G (p.K1177R) - OTOGL_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.