Full data view for gene PKHD1L1

Information The variants shown are described using the NM_177531.4 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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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.197T>A r.(?) p.(Val66Asp) Unknown - likely benign g.110393632T>A - PKHD1L1(NM_177531.4):c.197T>A (p.(Val66Asp)) - PKHD1L1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.385G>A r.(?) p.(Gly129Ser) Maternal (confirmed) - likely pathogenic (recessive) g.110394768G>A g.109382539G>A - - PKHD1L1_000019 - PubMed: Redfield 2023, Journal: Redfield 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL Fam1 PubMed: Redfield 2023, Journal: Redfield 2023 2-generation family, 1 affected, unaffected heterozygous parents F no United States - - - - - 1 Johan den Dunnen
-?/. - c.1679C>T r.(?) p.(Pro560Leu) Unknown - likely benign g.110418573C>T - PKHD1L1(NM_177531.4):c.1679C>T (p.(Pro560Leu)) - PKHD1L1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1813G>A r.(?) p.(Gly605Arg) Unknown - likely pathogenic g.110418707G>A - - - PKHD1L1_000017 - - - rs767753360 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2137C>T r.(?) p.(Arg713Cys) Unknown - likely benign g.110424545C>T - PKHD1L1(NM_177531.4):c.2137C>T (p.(Arg713Cys)) - PKHD1L1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2155C>A r.(?) p.(Pro719Thr) Unknown - VUS g.110424563C>A - PKHD1L1(NM_177531.6):c.2155C>A (p.P719T) - PKHD1L1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2155C>T r.(?) p.(Pro719Ser) Unknown - VUS g.110424563C>T - PKHD1L1(NM_177531.4):c.2155C>T (p.(Pro719Ser)) - PKHD1L1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2254G>T r.(?) p.(Gly752*) Unknown - VUS g.110425668G>T - PKHD1L1(NM_177531.4):c.2254G>T (p.(Gly752*)) - PKHD1L1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2321C>A r.(?) p.(Thr774Asn) Unknown - likely benign g.110425735C>A - PKHD1L1(NM_177531.6):c.2321C>A (p.T774N) - PKHD1L1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2669T>C r.(?) p.(Ile890Thr) Unknown - VUS g.110432891T>C - PKHD1L1(NM_177531.4):c.2669T>C (p.(Ile890Thr)) - PKHD1L1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3101G>A r.(?) p.(Arg1034His) Unknown - VUS g.110441669G>A - PKHD1L1(NM_177531.4):c.3101G>A (p.(Arg1034His)) - PKHD1L1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3650T>C r.(?) p.(Ile1217Thr) Unknown - likely benign g.110450575T>C - PKHD1L1(NM_177531.6):c.3650T>C (p.I1217T) - PKHD1L1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3761-1G>A r.spl? p.? Unknown - VUS g.110451125G>A - PKHD1L1(NM_177531.6):c.3761-1G>A - PKHD1L1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3941G>T r.(?) p.(Gly1314Val) Paternal (confirmed) - likely pathogenic (recessive) g.110451306G>T g.109439077G>T - - PKHD1L1_000018 - PubMed: Redfield 2023, Journal: Redfield 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL Fam1 PubMed: Redfield 2023, Journal: Redfield 2023 2-generation family, 1 affected, unaffected heterozygous parents F no United States - - - - - 1 Johan den Dunnen
-?/. - c.4679T>G r.(?) p.(Val1560Gly) Unknown - likely benign g.110456019T>G - PKHD1L1(NM_177531.4):c.4679T>G (p.(Val1560Gly)) - PKHD1L1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5056G>A r.(?) p.(Val1686Ile) Unknown - VUS g.110457154G>A - PKHD1L1(NM_177531.4):c.5056G>A (p.(Val1686Ile)) - PKHD1L1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5194C>T r.(?) p.(Pro1732Ser) Unknown - VUS g.110457292C>T g.109445063C>T PKHD1L1(NM_177531.4):c.5194C>T (p.(Pro1732Ser)) - PKHD1L1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6406T>G r.(?) p.(Tyr2136Asp) Unknown - likely benign g.110464408T>G - PKHD1L1(NM_177531.4):c.6406T>G (p.(Tyr2136Asp)) - PKHD1L1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.6507+1G>A r.spl? p.? Both (homozygous) - pathogenic g.110464510G>A g.109452281G>A - - PKHD1L1_000001 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.7306C>A r.(?) p.(Gln2436Lys) Unknown - VUS g.110474060C>A g.109461831C>A PKHD1L1(NM_177531.4):c.7306C>A (p.(Gln2436Lys)) - PKHD1L1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7338T>C r.(?) p.(Pro2446=) Unknown - likely benign g.110474092T>C - PKHD1L1(NM_177531.6):c.7338T>C (p.P2446=) - PKHD1L1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7437C>A r.(?) p.(His2479Gln) Both (homozygous) - likely pathogenic (recessive) g.110476498C>A g.109464269C>A - - PKHD1L1_000021 - PubMed: Redfield 2023, Journal: Redfield 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL Fam3 PubMed: Redfield 2023, Journal: Redfield 2023 2-generation family, 1 affected M yes Korea - - - - - 1 Johan den Dunnen
?/. - c.7644A>C r.(?) p.(Gln2548His) Unknown - VUS g.110476705A>C - PKHD1L1(NM_177531.4):c.7644A>C (p.(Gln2548His)) - PKHD1L1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8005C>T r.(?) p.(Gln2669*) Unknown - likely benign g.110477066C>T - PKHD1L1(NM_177531.6):c.8005C>T (p.(Gln2669*)) - PKHD1L1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8429C>A r.(?) p.(Thr2810Asn) Unknown - VUS g.110478822C>A g.109466593C>A PKHD1L1(NM_177531.4):c.8429C>A (p.(Thr2810Asn)) - PKHD1L1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9205dup r.(?) p.(Met3069Asnfs*18) Unknown - VUS g.110492246dup - PKHD1L1(NM_177531.6):c.9205dup (p.(Met3069Asnfs*18)) - PKHD1L1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9281C>T r.(?) p.(Ser3094Phe) Unknown - VUS g.110492322C>T - PKHD1L1(NM_177531.4):c.9281C>T (p.(Ser3094Phe)) - PKHD1L1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9287A>C r.(?) p.(Tyr3096Ser) Unknown - likely benign g.110492328A>C - PKHD1L1(NM_177531.6):c.9287A>C (p.(Tyr3096Ser)) - PKHD1L1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9296T>C r.(?) p.(Val3099Ala) Unknown - VUS g.110492337T>C - PKHD1L1(NM_177531.6):c.9296T>C (p.(Val3099Ala)) - PKHD1L1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.10141C>T r.(?) p.(Arg3381*) Both (homozygous) - likely pathogenic (recessive) g.110504128C>T g.109491899C>T - - PKHD1L1_000020 - PubMed: Redfield 2023, Journal: Redfield 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES HL Fam2 PubMed: Redfield 2023, Journal: Redfield 2023 2-generation family, 1 affected, unaffected heterozygous parents M yes United States - - - - - 1 Johan den Dunnen
-?/. - c.10310A>G r.(?) p.(Asp3437Gly) Unknown - likely benign g.110505963A>G g.109493734A>G PKHD1L1(NM_177531.4):c.10310A>G (p.(Asp3437Gly)) - PKHD1L1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10672G>T r.(?) p.(Glu3558*) Unknown - VUS g.110510763G>T - PKHD1L1(NM_177531.6):c.10672G>T (p.(Glu3558*)) - PKHD1L1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10691G>C r.(?) p.(Arg3564Pro) Unknown - VUS g.110510782G>C - PKHD1L1(NM_177531.6):c.10691G>C (p.(Arg3564Pro)) - PKHD1L1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10829G>T r.(?) p.(Gly3610Val) Unknown - VUS g.110516556G>T g.109504327G>T PKHD1L1(NM_177531.4):c.10829G>T (p.(Gly3610Val)) - PKHD1L1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.12647T>A r.(?) p.(Ile4216Asn) Unknown - likely benign g.110539175T>A - PKHD1L1(NM_177531.6):c.12647T>A (p.(Ile4216Asn)) - PKHD1L1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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