Full data view for gene LPHN1

NOTE: gene name changed from LPHN1 to ADGRL1
Information The variants shown are described using the NM_014921.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.26G>A r.(?) p.(Trp9Ter) Unknown - pathogenic (dominant) g.14294389C>T g.14183577C>T NM_001008701.2:c.26G>A - LPHN1_000009 - PubMed: Guo 2019, Journal: Guo 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Guo 2019, Journal: Guo 2019, PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.70+276T>G r.(=) p.(=) Unknown - VUS g.14294069A>C - ADGRL1(NM_014921.5):c.70+276T>G - LPHN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190G>A r.(?) p.(Gly64Arg) Unknown - VUS g.14288437C>T - ADGRL1(NM_014921.5):c.190G>A (p.(Gly64Arg)) - LPHN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.503G>C r.(?) p.(Arg168Pro) Unknown - VUS g.14274110C>G - ADGRL1(NM_014921.5):c.503G>C (p.(Arg168Pro)) - LPHN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.536C>T r.(?) p.(Thr179Met) Unknown - VUS g.14274077G>A - ADGRL1(NM_014921.5):c.536C>T (p.(Thr179Met)) - LPHN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.819G>A r.(?) p.(Trp273Ter) Paternal (confirmed) - pathogenic (dominant) g.14273794C>T g.14162982C>T NM_001008701.2:c.834G>A - LPHN1_000008 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPat3 PubMed: Vitobello 2022, Journal: Vitobello 2022 2-generation family, affected father/3 sons/2 daughters, unaffected heterozygous carrier parents F - - - - - - - 6 Johan den Dunnen
+/. - c.819G>A r.(?) p.(Trp273Ter) Paternal (confirmed) - pathogenic (dominant) g.14273794C>T g.14162982C>T NM_001008701.2:c.834G>A - LPHN1_000008 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPat4 PubMed: Vitobello 2022, Journal: Vitobello 2022 sister F - - - - - - - 1 Johan den Dunnen
-?/. - c.833C>G r.(?) p.(Thr278Ser) Unknown - likely benign g.14273780G>C - ADGRL1(NM_014921.5):c.833C>G (p.(Thr278Ser)) - LPHN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1022A>G r.(?) p.(Tyr341Cys) Paternal (confirmed) - pathogenic (dominant) g.14273591T>C g.14162779T>C NM_001008701.2:c.1037A>G - LPHN1_000007 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD FamPat10 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, affected father/daughter/son; son M - - - - - - - 3 Johan den Dunnen
-?/. - c.1046G>A r.(?) p.(Arg349His) Unknown - likely benign g.14273567C>T - ADGRL1(NM_014921.5):c.1046G>A (p.(Arg349His)) - LPHN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1685C>T r.(?) p.(Ala562Val) Unknown - likely benign g.14271039G>A - ADGRL1(NM_014921.5):c.1685C>T (p.(Ala562Val)) - LPHN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1772G>A r.(?) p.(Arg591His) Both (homozygous) ACMG VUS g.14270952C>T g.14160140C>T NM_001008701.2:1787G>A - LPHN1_000001 - PubMed: Helbig 2016 - - Germline - - - - - DNA SEQ-NG - WES seizures Pat114 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.2049dup r.(?) p.(Glu684ArgfsTer113) Unknown - pathogenic (dominant) g.14270002dup g.14159190dup NM_001008701.2:c.2064dup - LPHN1_000006 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.2845G>A r.(?) p.(Glu949Lys) Unknown - VUS g.14267858C>T - ADGRL1(NM_014921.5):c.2845G>A (p.(Glu949Lys)) - LPHN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2998T>C r.(?) p.(Trp1000Arg) Unknown - pathogenic (dominant) g.14267505A>G g.14156693A>G NM_001008701.2:c.3013T>C - LPHN1_000005 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.3034-9C>T r.(=) p.(=) Unknown - likely benign g.14267022G>A - ADGRL1(NM_014921.5):c.3034-9C>T - LPHN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3062T>G r.(3062T>G) p.(Leu1021Arg) Unknown ACMG VUS g.14266985A>C g.14156173A>C - - LPHN1_000014 - - - - Germline - - - - - DNA SEQ-NG-I Blood Gene: ADGRL1 DD 312924 - - F no ? (unknown) - - - - - 1 Andreas Laner
-?/. - c.3294+8C>T r.(=) p.(=) Unknown - likely benign g.14266163G>A - ADGRL1(NM_014921.5):c.3294+8C>T - LPHN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3314A>G r.(?) p.(Lys1105Arg) Unknown - likely benign g.14263705T>C - ADGRL1(NM_014921.5):c.3314A>G (p.(Lys1105Arg)) - LPHN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3391C>T r.(?) p.(Arg1131Ter) Unknown - pathogenic (dominant) g.14263628G>A g.14152816G>A NM_001008701.2:c.3406C>T - LPHN1_000004 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - United States - - - - - 1 Johan den Dunnen
-?/. - c.3428G>A r.(?) p.(Arg1143Gln) Unknown - likely benign g.14263421C>T - ADGRL1(NM_014921.5):c.3428G>A (p.(Arg1143Gln)) - LPHN1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3440T>C r.(?) p.(Met1147Thr) Unknown - pathogenic (dominant) g.14263409A>G g.14152597A>G NM_001008701.2:c.3455T>C - LPHN1_000003 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.3476C>T r.(?) p.(Ser1159Phe) Unknown - pathogenic (dominant) g.14263373G>A g.14152561G>A NM_001008701.2:c.3491C>T - LPHN1_000002 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.3517C>T r.(?) p.(Arg1173Ter) Unknown - pathogenic (dominant) g.14263332G>A g.14152520G>A NM_001008701.2:c.3532C>T - LPHN1_000010 - PubMed: Vitobello 2022, Journal: Vitobello 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Vitobello 2022, Journal: Vitobello 2022 2 generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.3800G>A r.(?) p.(Arg1267Gln) Unknown - VUS g.14262295C>T - ADGRL1(NM_014921.5):c.3800G>A (p.(Arg1267Gln)) - LPHN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3922G>A r.(?) p.(Val1308Met) Unknown - likely benign g.14262173C>T - ADGRL1(NM_014921.5):c.3922G>A (p.(Val1308Met)) - LPHN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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