Full data view for gene ADPRHL2

Information The variants shown are described using the NM_017825.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.100G>A r.(?) p.(Asp34Asn) Both (homozygous) - pathogenic (recessive) g. 36554605G>A - - - ADPRHL2_000006 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam6PatII3 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.235A>C r.(?) p.(Thr79Pro) Both (homozygous) - pathogenic (recessive) g.36556868A>C g.36091267A>C - - ADPRHL2_000003 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam3PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.292del r.(?) p.(Val98Trpfs*23) Both (homozygous) - pathogenic (recessive) g.36556925del g.36091324del 292delG - ADPRHL2_000011 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam8 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.309-1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.36557218G>T g.36091617G>T - - ADPRHL2_000010 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam7 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes China - - - - - 2 Johan den Dunnen
+/. - c.316C>T r.(?) p.(Gln106*) Both (homozygous) - pathogenic (recessive) g.36557226C>T g.36091625C>T - - ADPRHL2_000002 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam2PatII2 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. - c.414_418del r.(?) p.(Ala139Glyfs*4) Both (homozygous) - pathogenic (recessive) g.36557324_36557328del g.36091723_36091727del 414_418delTGCCC - ADPRHL2_000004 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam4PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Pakistan - - - - - 2 Johan den Dunnen
?/. - c.414_418del r.(?) p.(Ala139GlyfsTer4) Unknown - VUS g.36557324_36557328del g.36091723_36091727del ADPRS(NM_017825.3):c.414_418delTGCCC (p.A139Gfs*4) - ADPRHL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.414_418del r.(?) p.(Ala139Glyfs*4) Both (homozygous) - pathogenic (recessive) g.36557324_36557328del g.36091723_36091727del 414_418delTGCCC - ADPRHL2_000004 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam4PatII3 PubMed: Ghosh 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.530C>T r.(?) p.(Ser177Leu) Both (homozygous) - pathogenic (recessive) g.36557524C>T g.36091923C>T - - ADPRHL2_000005 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam5PatII1 PubMed: Ghosh 2018, Journal: Ghosh 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Iran - 06y - - - 2 Johan den Dunnen
+/. - c.530C>T r.(?) p.(Ser177Leu) Both (homozygous) - pathogenic (recessive) g.36557524C>T g.36091923C>T - - ADPRHL2_000005 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam5PatII2 PubMed: Ghosh 2018 - F yes Iran - - - - - 1 Johan den Dunnen
?/. - c.612C>T r.(?) p.(=) Unknown - VUS g.36557606C>T - ADPRHL2(NM_017825.3):c.612C>T (p.(Gly204=)) - ADPRHL2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.631T>C r.(?) p.(Phe211Leu) Unknown - VUS g.36557625T>C - ADPRHL2(NM_017825.3):c.631T>C (p.F211L) - ADPRHL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.639_642del r.(?) p.(Lys213Asnfs*33) Both (homozygous) - likely pathogenic g.36557633_36557636del g.36092032_36092035del 636_639del - ADPRHL2_000018 - - - - Germline yes - - - - DNA SEQ, SEQ-NG Blood WES CONDSIAS ADPRHL2 - - F yes Iran Persian 07y? - no none 1 Ehsan Razmara
-?/. - c.714G>A r.(?) p.(Glu238=) Unknown - likely benign g.36558035G>A - ADPRHL2(NM_017825.3):c.714G>A (p.E238=) - ADPRHL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.744_746del r.(?) p.(Lys248_Ile249delinsAsn) Both (homozygous) - pathogenic (recessive) g.36558065_36558067del g.36092464_36092466del - - ADPRHL2_000008 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam2 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018, Journal: Ghosh 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration Fam1PatV1 PubMed: Ghosh 2018, Journal: Ghosh 2018 4-generation family, 9 affected (4F, 5M), unaffected heterozygous carrier parents M yes United Arab Emirates - 04y - - - 9 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatI-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatI-IV3 PubMed: Ghosh 2018 - M yes United Arab Emirates - 7y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatI-IV5 PubMed: Ghosh 2018 - M yes United Arab Emirates - 15y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatI-IV11 PubMed: Ghosh 2018 - M yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatII-IV2 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatII-IV5 PubMed: Ghosh 2018 - F yes United Arab Emirates - 2y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatII-IV6(A1) PubMed: Ghosh 2018 - M yes United Arab Emirates - 9y - - - 1 Johan den Dunnen
+/. - c.1000C>T r.(?) p.(Gln334*) Both (homozygous) - pathogenic (recessive) g.36558895C>T g.36093294C>T - - ADPRHL2_000001 - PubMed: Ghosh 2018 - - Germline yes - - - - DNA SEQ - - neurodegeneration Fam1PatII-IV7(A2) PubMed: Ghosh 2018 - F yes United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.1004T>G r.(?) p.(Val335Gly) Both (homozygous) - pathogenic (recessive) g.36558899T>G g.36093298T>G - - ADPRHL2_000007 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam1 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - Germany - - - - - 2 Johan den Dunnen
+/. - c.1004T>G r.(?) p.(Val335Gly) Both (homozygous) - pathogenic (recessive) g.36558899T>G g.36093298T>G - - ADPRHL2_000007 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam4 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M - - - - - - - 2 Johan den Dunnen
+/. - c.1004T>G r.(?) p.(Val335Gly) Both (homozygous) - pathogenic (recessive) g.36558899T>G g.36093298T>G - - ADPRHL2_000007 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam5 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Yugoslavia Kosovo - - - - 1 Johan den Dunnen
+/. - c.1004T>G r.(?) p.(Val335Gly) Both (homozygous) - pathogenic (recessive) g.36558899T>G g.36093298T>G - - ADPRHL2_000007 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam6 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
?/. - c.1007C>T r.(?) p.(Pro336Leu) Unknown - VUS g.36558902C>T - ADPRHL2(NM_017825.3):c.1007C>T (p.(Pro336Leu)) - ADPRHL2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1038C>G r.(?) p.(Tyr346*) Both (homozygous) - pathogenic (recessive) g.36558933C>G g.36093332C>G - - ADPRHL2_000009 - PubMed: Danhauser 2018, Journal: Danhauser 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES neurodegeneration 30401461-Fam3 PubMed: Danhauser 2018, Journal: Danhauser 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
-/. - c.*4171C>A r.(=) p.(=) Unknown - benign g.36563158C>A g.36097557C>A COL8A2(NM_005202.4):c.*12G>T - COL8A2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4245C>T r.(=) p.(=) Unknown - VUS g.36563232C>T - COL8A2(NM_005202.3):c.2050G>A (p.G684S) - ADPRHL2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4291C>A r.(=) p.(=) Unknown - likely benign g.36563278C>A - COL8A2(NM_005202.3):c.2004G>T (p.R668=) - ADPRHL2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4415T>G r.(=) p.(=) Unknown - VUS g.36563402T>G - COL8A2(NM_005202.3):c.1880A>C (p.H627P) - ADPRHL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4549G>A r.(=) p.(=) Unknown - likely benign g.36563536G>A - COL8A2(NM_005202.3):c.1746C>T (p.T582=) - ADPRHL2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4571G>A r.(=) p.(=) Unknown - VUS g.36563558G>A g.36097957G>A COL8A2(NM_005202.3):c.1724C>T (p.P575L) - ADPRHL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4596C>T r.(=) p.(=) Unknown - likely benign g.36563583C>T g.36097982C>T COL8A2(NM_005202.3):c.1699G>A (p.G567S) - ADPRHL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4833G>A r.(=) p.(=) Unknown - likely benign g.36563820G>A g.36098219G>A COL8A2(NM_005202.3):c.1462C>T (p.L488=) - ADPRHL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4994C>T r.(=) p.(=) Unknown - likely benign g.36563981C>T g.36098380C>T COL8A2(NM_005202.3):c.1301G>A (p.R434H) - ADPRHL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5155C>G r.(=) p.(=) Unknown - likely benign g.36564142C>G g.36098541C>G COL8A2(NM_005202.3):c.1140G>C (p.E380D) - ADPRHL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5158A>G r.(=) p.(=) Unknown - benign g.36564145A>G g.36098544A>G COL8A2(NM_005202.3):c.1137T>C (p.G379=) - COL8A2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5384C>T r.(=) p.(=) Unknown - VUS g.36564371C>T - COL8A2(NM_005202.3):c.911G>A (p.R304Q) - ADPRHL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5506C>G r.(=) p.(=) Unknown - likely benign g.36564493C>G g.36098892C>G COL8A2(NM_005202.3):c.789G>C (p.R263S) - COL8A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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