Full data view for gene LHX4

Information The variants shown are described using the NM_033343.3 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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     

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Owner     
?/. - c.37G>A r.(?) p.(Val13Ile) Unknown - VUS g.180199701G>A g.180230566G>A LHX4(NM_033343.3):c.37G>A (p.(Val13Ile)), LHX4(NM_033343.4):c.37G>A (p.V13I) - LHX4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37G>A r.(?) p.(Val13Ile) Unknown - likely benign g.180199701G>A - LHX4(NM_033343.3):c.37G>A (p.(Val13Ile)), LHX4(NM_033343.4):c.37G>A (p.V13I) - LHX4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.63T>C r.(?) p.(Gly21=) Unknown - benign g.180199727T>C g.180230592T>C LHX4(NM_033343.4):c.63T>C (p.G21=) - LHX4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77-20C>A r.(=) p.(=) Unknown - benign g.180217400C>A - LHX4(NM_033343.4):c.77-20C>A - LHX4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90C>T r.(?) p.(Cys30=) Unknown - benign g.180217433C>T g.180248298C>T LHX4(NM_033343.4):c.90C>T (p.C30=) - LHX4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91G>A r.(?) p.(Ala31Thr) Unknown - VUS g.180217434G>A - - - LHX4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.143_144del r.(?) p.(Arg48Thrfs*104) Paternal (confirmed) - pathogenic (!) g.180217486_180217487del g.180248351_180248352del 143_144delGA - LHX4_000002 unaffected carrier father PubMed: Cohen 2017 - - Germline - - - - - DNA SEQ Blood - CPHD4 Fam5PatII1 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected heterozygous carrier father M no - - - - - - 1 Marie Legendre
+/. 2 c.194C>T r.(?) p.(Ala65Val) Maternal (confirmed) - pathogenic (dominant) g.180217537C>T g.180248402C>T - - LHX4_000003 - PubMed: Cohen 2017 - - Germline yes - - - - DNA SEQ Blood - CPHD4 Fam1PatII2 PubMed: Cohen 2017 2-generation family, affected mother/son M yes - - - - - - 2 Marie Legendre
-?/. - c.248+13G>A r.(=) p.(=) Unknown - likely benign g.180217604G>A - LHX4(NM_033343.4):c.248+13G>A - LHX4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.250C>T r.(?) p.(Arg84Cys) Paternal (confirmed) ACMG pathogenic g.180235528C>T g.180266393C>T - - LHX4_000029 ACMG PVS1, PP3, PP5 supporting PubMed: Giannakopoulos 2022 - - Germline - - - - - DNA SEQ-NG, SEQ-NG-I BLOOD clinical WES, confirmed by Sanger sequencing BPES patient PubMed: Giannakopoulos 2022 - F no Greece - - - - - 1 Amalia Sertedaki
+/. - c.250C>T r.(?) p.(Arg84Cys) Unknown - pathogenic (dominant) g.180235528C>T g.180266393C>T - - LHX4_000029 - PubMed: Pfaeffle 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - CPHD PatB1 PubMed: Pfaeffle 2008 2-generation family, 1 affected M - Macedonia - - - - - 1 Johan den Dunnen
-?/. - c.251G>A r.(?) p.(Arg84His) Unknown - likely benign g.180235529G>A - LHX4(NM_033343.3):c.251G>A (p.(Arg84His)) - LHX4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.269C>T r.(?) p.(Thr90Met) Unknown - likely benign g.180235547C>T - LHX4(NM_033343.4):c.269C>T (p.T90M) - LHX4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308G>A r.(?) p.(Arg103His) Unknown - VUS g.180235586G>A - LHX4(NM_033343.4):c.308G>A (p.(Arg103His)) - LHX4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364C>T r.(?) p.(Arg122Trp) Paternal (confirmed) - likely pathogenic g.180235642C>T g.180266507C>T - - LHX4_000037 - PubMed: Hemwong 2020 - - Germline - - - - - DNA SEQ-NG peripheral blood whole exome sequencing (WES) CPHD, OI patient PubMed: Hemwong 2020 - M no Thailand - >06y - - - 1 Kim Worring
-?/. - c.365G>A r.(?) p.(Arg122Gln) Unknown - likely benign g.180235643G>A - LHX4(NM_033343.4):c.365G>A (p.(Arg122Gln)) - LHX4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.384C>T r.(?) p.(Asp128=) Unknown - benign g.180235662C>T g.180266527C>T LHX4(NM_033343.4):c.384C>T (p.D128=) - LHX4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.393C>G r.(?) p.(Tyr131*) Maternal (confirmed) - pathogenic (!) g.180235671C>G g.180266536C>G - - LHX4_000006 unaffected carrier mother PubMed: Cohen 2017 - - Germline - - - - - DNA SEQ Blood - CPHD4 Fam6PatII2 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected carrier mother F no - - - - - - 1 Marie Legendre
?/. - c.406G>A r.(?) p.(Gly136Arg) Unknown - VUS g.180235684G>A g.180266549G>A LHX4(NM_033343.4):c.406G>A (p.(Gly136Arg)) - LHX4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.450C>T r.(?) p.(Asn150=) Unknown - benign g.180235728C>T g.180266593C>T LHX4(NM_033343.3):c.450C>T (p.(Asn150=)), LHX4(NM_033343.4):c.450C>T (p.N150=) - LHX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450C>T r.(?) p.(Asn150=) Unknown - likely benign g.180235728C>T g.180266593C>T LHX4(NM_033343.3):c.450C>T (p.(Asn150=)), LHX4(NM_033343.4):c.450C>T (p.N150=) - LHX4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450C>T r.(=) p.(=) Parent #1 - likely benign g.180235728C>T g.180266593C>T - - LHX4_000009 85 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16855642 Germline - 85/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 85 Mohammed Faruq
-?/. - c.451G>C r.(?) p.(Asp151His) Unknown - likely benign g.180235729G>C g.180266594G>C LHX4(NM_033343.3):c.451G>C (p.(Asp151His)) - LHX4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.451+3A>G r.spl? p.? Unknown - likely benign g.180235732A>G - LHX4(NM_033343.4):c.451+3A>G - LHX4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.452-5T>C r.spl? p.? Unknown - benign g.180240510T>C g.180271375T>C LHX4(NM_033343.4):c.452-5T>C - LHX4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.476G>A r.(?) p.(Arg159Gln) Unknown - VUS g.180240539G>A - LHX4(NM_033343.3):c.476G>A (p.(Arg159Gln)) - LHX4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.487A>C r.(?) p.(Thr163Pro) Maternal (confirmed) - pathogenic (!) g.180240550A>C g.180271415A>C - - LHX4_000005 unaffected carrier mother PubMed: Cohen 2017 - - Germline - - - - - DNA SEQ Blood - CPHD4 Fam2PatII2 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - 1 Marie Legendre
-/. - c.555C>T r.(?) p.(His185=) Unknown - benign g.180240618C>T - LHX4(NM_033343.4):c.555C>T (p.H185=) - LHX4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.569T>G r.(?) p.(Leu190Arg) Unknown - pathogenic (dominant) g.180240632T>G g.180271497T>G - - LHX4_000035 - PubMed: Pfaeffle 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - CPHD PatC1 PubMed: Pfaeffle 2008 2-generation family, 1 affected F - Germany - - - - - 1 Johan den Dunnen
+?/. 4i c.606+1G>T r.spl p.? Unknown - likely pathogenic (dominant) g.180240670G>T g.180271535G>T - - LHX4_000001 - PubMed: Cohen 2017 - - De novo - - - - - DNA SEQ Blood - CPHD4 Fam7PatII1 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected non carrier parents M no - - - - - - 1 Marie Legendre
-/. - c.607-17T>C r.(=) p.(=) Unknown - benign g.180240953T>C - LHX4(NM_033343.4):c.607-17T>C - LHX4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.628G>C r.(?) p.(Ala210Pro) Paternal (confirmed) - pathogenic (dominant) g.180240991G>C - - - LHX4_000034 - PubMed: Pfaeffle 2008 - - Germline yes - - - - DNA SEQ - - CPHD FamAPatA1/2/3 PubMed: Pfaeffle 2008 2-generation family, 3 affected, father/2 duaghters F;M no Switzerland - - - - - 3 Johan den Dunnen
?/. - c.643C>G r.(?) p.(Leu215Val) Unknown - VUS g.180241006C>G - LHX4(NM_033343.3):c.643C>G (p.(Leu215Val)) - LHX4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.662G>A r.(?) p.(Arg221Gln) Paternal (confirmed) - pathogenic (!) g.180241025G>A g.180271890G>A - - LHX4_000004 unaffected carrier father PubMed: Cohen 2017 - - Germline - - - - - DNA SEQ Blood - CPHD4 Fam3PatII3 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected heterozygous carrier father M no - - - - - - 1 Marie Legendre
?/. - c.683A>G r.(?) p.(Tyr228Cys) Unknown - VUS g.180241046A>G - LHX4(NM_033343.4):c.683A>G (p.Y228C, p.(Tyr228Cys)) - LHX4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.683A>G r.(?) p.(Tyr228Cys) Unknown - VUS g.180241046A>G - LHX4(NM_033343.4):c.683A>G (p.Y228C, p.(Tyr228Cys)) - LHX4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.690C>T r.(?) p.(Ser230=) Unknown - benign g.180241053C>T g.180271918C>T LHX4(NM_033343.4):c.690C>T (p.S230=) - LHX4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.704G>A r.(?) p.(Arg235Gln) Paternal (confirmed) - pathogenic (!) g.180241067G>A - - - LHX4_000036 unaffected carrier father PubMed: Cohen 2017 - - Germline - - - - - DNA SEQ - - CPHD4 Fam4PatII1 PubMed: Cohen 2017 2-generation family, 1 affected, unaffected carrier father M - - - - - - - 1 Johan den Dunnen
?/. - c.721G>C r.(?) p.(Glu241Gln) Unknown - VUS g.180241084G>C g.180271949G>C LHX4(NM_033343.4):c.721G>C (p.(Glu241Gln)) - LHX4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.721G>C r.(?) p.(Glu241Gln) Unknown - likely benign g.180241084G>C - LHX4(NM_033343.4):c.721G>C (p.(Glu241Gln)) - LHX4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.778+14G>T r.(=) p.(=) Unknown - benign g.180241155G>T g.180272020G>T LHX4(NM_033343.4):c.778+14G>T - LHX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849A>C r.(?) p.(Gly283=) Unknown - benign g.180243390A>C g.180274255A>C LHX4(NM_033343.4):c.849A>C (p.G283=) - LHX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.875T>A r.(?) p.(Met292Lys) Unknown - VUS g.180243416T>A - LHX4(NM_033343.3):c.875T>A (p.(Met292Lys)) - LHX4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Asp293=) Unknown - benign g.180243420C>T - LHX4(NM_033343.4):c.879C>T (p.D293=) - LHX4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924T>C r.(?) p.(=) Unknown - likely benign g.180243465T>C - LHX4(NM_033343.4):c.924T>C (p.Y308=) - LHX4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.949A>G r.(?) p.(Ile317Val) Unknown - likely benign g.180243490A>G - LHX4(NM_033343.3):c.949A>G (p.(Ile317Val)) - LHX4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.983A>G r.(?) p.(Asn328Ser) Unknown - benign g.180243524A>G g.180274389A>G LHX4(NM_033343.4):c.983A>G (p.N328S), LHX4-AS1(NR_037642.1):n.31+262T>C - LHX4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.983A>G r.(?) p.(Asn328Ser) Unknown - benign g.180243524A>G g.180274389A>G LHX4(NM_033343.4):c.983A>G (p.N328S), LHX4-AS1(NR_037642.1):n.31+262T>C - LHX4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.998C>T r.(?) p.(Thr333Met) Unknown - likely benign g.180243539C>T - LHX4(NM_033343.3):c.998C>T (p.(Thr333Met)) - LHX4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1009A>C r.(?) p.(Asn337His) Unknown - likely benign g.180243550A>C g.180274415A>C LHX4(NM_033343.3):c.1009A>C (p.(Asn337His)) - LHX4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1017C>G r.(?) p.(Gly339=) Unknown - benign g.180243558C>G g.180274423C>G LHX4(NM_033343.4):c.1017C>G (p.G339=) - LHX4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1057A>T r.(?) p.(Arg353*) Unknown - VUS g.180243598A>T - - - LHX4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1165C>A r.(?) p.(Pro389Thr) Unknown - VUS g.180243706C>A g.180274571C>A LHX4(NM_033343.3):c.1165C>A (p.(Pro389Thr)), LHX4(NM_033343.4):c.1165C>A (p.P389T) - LHX4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165C>A r.(?) p.(Pro389Thr) Unknown - likely benign g.180243706C>A - LHX4(NM_033343.3):c.1165C>A (p.(Pro389Thr)), LHX4(NM_033343.4):c.1165C>A (p.P389T) - LHX4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17C>A r.(=) p.(=) Unknown - benign g.180243731C>A g.180274596C>A LHX4(NM_033343.4):c.*17C>A - LHX4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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