Full data view for gene GRHL2


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_024915.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-24C>G r.(?) p.(=) Unknown - likely benign g.102504974C>G g.101492746C>G - - GRHL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.(?) p.(Lys419Glu) Unknown - VUS g.? - - - RP1_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K113 PubMed: Heidet 2017 affected patient and 1st degree relative - - France - - - - - 2 Johan den Dunnen
?/. - c.? r.(?) p.(Gly386Arg) Unknown - VUS g.? - - - RP1_000000 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K190 PubMed: Heidet 2017 affected patient and 1st degree relative (deafness) - - France - - - - - 2 Johan den Dunnen
-?/. - c.20+76_20+81del r.(=) p.(=) Unknown - likely benign g.102505093_102505098del g.101492865_101492870del GRHL2(NM_001330593.1):c.-29+16_-29+21delGTTTTT - GRHL2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.20+133del r.(=) p.(=) Parent #1 - pathogenic g.102505150del g.101492922del 20+133delA - GRHL2_000011 variant disrupts TF binding sites PubMed: Liskova 2018 - - Germline yes - - - - DNA SEQ - - PPCD 29499165-FamB5 PubMed: Liskova 2018 2-generation family, 37 affected (18F, 19M) F;M no United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 1i c.20+257del r.(=) p.(=) Unknown - pathogenic g.102505274del g.101493046del 20+257delT - GRHL2_000010 variant disrupts TF binding sites PubMed: Liskova 2018 - - Germline - - - - - DNA SEQ - - PPCD 29499165-FamB4 PubMed: Liskova 2018 2-generation family, 37 affected (18F, 19M) F;M no United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 1i c.20+544G>T r.(=) p.(=) Parent #1 - pathogenic g.102505561G>T g.101493333G>T - - GRHL2_000009 variant disrupts TF binding sites PubMed: Liskova 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES, WGS PPCD 29499165-FamC15 PubMed: Liskova 2018 9-generation family, 37 affected (18F, 19M) F;M no Czech Republic - - - - - 37 Johan den Dunnen
+/. 1i c.20+544G>T r.(=) p.(=) Parent #1 - pathogenic g.102505561G>T g.101493333G>T - - GRHL2_000009 variant disrupts TF binding sites PubMed: Liskova 2018 - - Germline yes - - - - DNA SEQ - - PPCD 29499165-FamC23 PubMed: Liskova 2018 3-generation family, 3 affected (3M) M no Czech Republic - - - - - 3 Johan den Dunnen
+/. 1i c.20+544G>T r.(=) p.(=) Parent #1 - pathogenic g.102505561G>T g.101493333G>T - - GRHL2_000009 variant disrupts TF binding sites PubMed: Liskova 2018 - - Germline yes - - - - DNA SEQ - - PPCD 29499165-FamC26 PubMed: Liskova 2018 2-generation family, 3 affected (2F, M) F;M no Czech Republic - - - - - 3 Johan den Dunnen
+/. 1i c.20+544G>T r.(=) p.(=) Unknown - pathogenic g.102505561G>T g.101493333G>T - - GRHL2_000009 variant disrupts TF binding sites PubMed: Liskova 2018 - - De novo - - - - - DNA SEQ - - PPCD 29499165-FamC33 PubMed: Liskova 2018 2-generation family, 1 affected F no Czech Republic - - - - - 1 Johan den Dunnen
-/. - c.26A>G r.(?) p.(Lys9Arg) Unknown - benign g.102555474A>G g.101543246A>G GRHL2(NM_001330593.1):c.-23A>G (p.(=)) - GRHL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.26A>G r.(?) p.(Lys9Arg) Parent #1 - benign g.102555474A>G g.101543246A>G - - GRHL2_000021 109 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3735709 Germline - 109/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 109 Mohammed Faruq
+?/. - c.117C>A r.(?) p.(Tyr39Ter) Unknown - likely pathogenic g.102555565C>A g.101543337C>A - - GRHL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198G>A r.(?) p.(Leu66=) Unknown - likely benign g.102555646G>A - GRHL2(NM_024915.3):c.198G>A (p.L66=) - GRHL2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(=) Unknown - likely benign g.102555655C>T - GRHL2(NM_024915.4):c.207C>T (p.D69=) - GRHL2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.223C>T r.(?) p.(Arg75*) Unknown - likely pathogenic g.102564949C>T - - - GRHL2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.224G>A r.(?) p.(Arg75Gln) Unknown - likely pathogenic g.102564950G>A - - - GRHL2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Tyr139=) Unknown - likely benign g.102570779C>T - GRHL2(NM_024915.4):c.417C>T (p.Y139=) - GRHL2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454G>A r.(?) p.(Val152Met) Unknown - likely benign g.102570816G>A - GRHL2(NM_024915.4):c.454G>A (p.V152M) - GRHL2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Glu181=) Unknown - likely benign g.102570905G>A g.101558677G>A GRHL2(NM_024915.3):c.543G>A (p.E181=), GRHL2(NM_024915.4):c.543G>A (p.E181=) - GRHL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Glu181=) Unknown - likely benign g.102570905G>A - GRHL2(NM_024915.3):c.543G>A (p.E181=), GRHL2(NM_024915.4):c.543G>A (p.E181=) - GRHL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>A r.(?) p.(Arg183Gln) Unknown - VUS g.102570910G>A g.101558682G>A GRHL2(NM_024915.3):c.548G>A (p.R183Q) - GRHL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548G>A r.(?) p.(Arg183Gln)) Unknown - VUS g.102570910G>A - - - GRHL2_000001 - - - rs142411476 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637G>A r.(?) p.(Asp213Asn) Unknown - VUS g.102570999G>A g.101558771G>A GRHL2(NM_001330593.1):c.589G>A (p.D197N) - GRHL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.651C>T r.(?) p.(Ser217=) Unknown - likely benign g.102571013C>T - GRHL2(NM_001330593.1):c.603C>T (p.(Ser201=)) - GRHL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.661A>T r.(?) p.(Lys221Ter) Unknown - likely pathogenic g.102571023A>T g.101558795A>T - - GRHL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702G>A r.(?) p.(Gly234=) Unknown - likely benign g.102582590G>A - GRHL2(NM_024915.3):c.702G>A (p.G234=) - GRHL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804C>T r.(?) p.(Thr268=) Unknown - likely benign g.102585965C>T g.101573737C>T GRHL2(NM_001330593.1):c.756C>T (p.T252=), GRHL2(NM_024915.4):c.804C>T (p.T268=) - GRHL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804C>T r.(?) p.(Thr268=) Unknown - likely benign g.102585965C>T - GRHL2(NM_001330593.1):c.756C>T (p.T252=), GRHL2(NM_024915.4):c.804C>T (p.T268=) - GRHL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.843C>T r.(?) p.(=) Unknown - likely benign g.102586004C>T - GRHL2(NM_024915.4):c.843C>T (p.S281=) - GRHL2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.891+7G>A r.(=) p.(=) Unknown - likely benign g.102586059G>A - GRHL2(NM_001330593.2):c.843+7G>A - GRHL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.931_932del r.(?) p.(Asp311Ter) Unknown - likely pathogenic (dominant) g.102589675_102589676del g.101577447_101577448del - - GRHL2_000039 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR032 PubMed: Boucher 2020 family, 3 affected - - France - - - - - 3 Johan den Dunnen
-?/. - c.1098+9C>T r.(=) p.(=) Unknown - likely benign g.102611388C>T g.101599160C>T GRHL2(NM_024915.3):c.1098+9C>T - GRHL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145A>T r.(?) p.(Lys382Ile) Unknown - VUS g.102631813A>T - - - GRHL2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>T r.(?) p.(Pro405Ser) Unknown - VUS g.102631881C>T - GRHL2(NM_024915.4):c.1213C>T (p.P405S) - GRHL2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1243G>A r.(?) p.(Val415Ile) Parent #1 - benign g.102631911G>A g.101619683G>A - - GRHL2_000024 57 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3779617 Germline - 57/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 57 Mohammed Faruq
-/. - c.1243G>A r.(?) p.(Val415Ile) Both (homozygous) - benign g.102631911G>A g.101619683G>A - - GRHL2_000024 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3779617 Germline - 5/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.1243G>A r.(?) p.(Val415Ile) Unknown - likely benign g.102631911G>A - GRHL2(NM_024915.4):c.1243G>A (p.(Val415Ile)) - GRHL2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1257+2T>G r.spl? p.? Unknown - likely pathogenic g.102631927T>G - - - GRHL2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337G>A r.(?) p.(Cys446Tyr) Unknown - VUS g.102643944G>A g.101631716G>A - - GRHL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1377A>G r.(?) p.(Leu459=) Unknown - likely benign g.102644485A>G - GRHL2(NM_024915.4):c.1377A>G (p.L459=) - GRHL2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1464A>C r.(?) p.(Ala488=) Unknown - VUS g.102644572A>C - - - GRHL2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1500G>A r.(?) p.(Thr500=) Unknown - benign g.102649139G>A g.101636911G>A GRHL2(NM_001330593.1):c.1452G>A (p.T484=), GRHL2(NM_001330593.2):c.1452G>A (p.T484=) - GRHL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500G>A r.(?) p.(Thr500=) Unknown - likely benign g.102649139G>A - GRHL2(NM_001330593.1):c.1452G>A (p.T484=), GRHL2(NM_001330593.2):c.1452G>A (p.T484=) - GRHL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1517+12A>G r.(=) p.(=) Unknown - likely benign g.102649168A>G - GRHL2(NM_001330593.2):c.1469+12A>G - GRHL2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1546C>T r.(?) p.(Arg516Trp) Unknown - VUS g.102656387C>T - - - GRHL2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1547G>A r.(?) p.(Arg516Gln) Unknown - VUS g.102656388G>A g.101644160G>A - - GRHL2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1609C>T r.(?) p.(Arg537*) Unknown ACMG VUS g.102656450C>T g.101644222C>T - - GRHL2_000027 ACMG PVS1 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB331-650 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.1664T>A r.(?) p.(Leu555Ter) Unknown - VUS g.102661693T>A g.101649465T>A GRHL2(NM_024915.4):c.1664T>A (p.L555*) - GRHL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1690A>T r.(?) p.(Met564Leu) Unknown - likely benign g.102661719A>T g.101649491A>T GRHL2(NM_001330593.1):c.1642A>T (p.M548L) - GRHL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1764-19C>T r.(=) p.(=) Unknown - benign g.102678798C>T g.101666570C>T GRHL2(NM_024915.4):c.1764-19C>T - GRHL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1764-19C>T r.(=) p.(=) Unknown - benign g.102678798C>T g.101666570C>T GRHL2(NM_024915.4):c.1764-19C>T - GRHL2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1789A>G r.(?) p.(Ile597Val) Unknown - VUS g.102678842A>G g.101666614A>G - - GRHL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806G>C r.(?) p.(Ser602=) Unknown - likely benign g.102678859G>C g.101666631G>C GRHL2(NM_001330593.1):c.1758G>C (p.S586=), GRHL2(NM_024915.3):c.1806G>C (p.S602=), GRHL2(NM_024915.4):c.1806G>C (p.S602=) - GRHL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1806G>C r.(?) p.(Ser602=) Unknown - likely benign g.102678859G>C - GRHL2(NM_001330593.1):c.1758G>C (p.S586=), GRHL2(NM_024915.3):c.1806G>C (p.S602=), GRHL2(NM_024915.4):c.1806G>C (p.S602=) - GRHL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1863G>A r.(?) p.(Thr621=) Unknown - likely benign g.102678916G>A - GRHL2(NM_024915.4):c.1863G>A (p.T621=) - GRHL2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*41G>T r.(=) p.(=) Unknown - benign g.102678972G>T g.101666744G>T - - GRHL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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