DPH5 — 40 ClinVar variants
All ClinVar germline DPH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 36 Uncertain significance
Full DPH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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DPH5 p.Asn110Ser
Pathogenic
No assertion criteria
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DPH5 p.Ala223Val
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Ala234Pro Uncertain significance Single submitter
-
DPH5 p.Arg224Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Arg58Gly Uncertain significance Single submitter
- DPH5 p.Asp14Asn Uncertain significance Single submitter
- DPH5 p.Asp228Asn Uncertain significance Single submitter
- DPH5 p.Asp229Ala Uncertain significance Single submitter
- DPH5 p.Asp229Asn Uncertain significance Single submitter
- DPH5 p.Cys219Ser Uncertain significance Single submitter
- DPH5 p.Glu60Asp Uncertain significance Single submitter
- DPH5 p.Gly257Ser Uncertain significance Single submitter
- DPH5 p.His260Gln Uncertain significance Single submitter
- DPH5 p.Ile165Val Uncertain significance Single submitter
-
DPH5 p.Leu163Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
-
DPH5 p.Leu7Phe
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Met240Arg Uncertain significance Single submitter
- DPH5 p.Met264Arg Uncertain significance Single submitter
- DPH5 p.Met266Thr Uncertain significance Single submitter
- DPH5 p.Phe135Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
-
DPH5 p.Pro104Thr
Uncertain significance
Multiple submitters
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Ala111Ser Uncertain significance Single submitter
- DPH5 p.Ala33Ser Uncertain significance Single submitter
- DPH5 p.Asp244Asn Uncertain significance Single submitter
- DPH5 p.Gln204Leu Uncertain significance Single submitter
-
DPH5 p.Leu94Val
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Lys100Met Uncertain significance Single submitter
- DPH5 p.Lys180Asn Uncertain significance Single submitter
- DPH5 p.Phe270Ile Uncertain significance Single submitter
- DPH5 p.Pro184Ala Uncertain significance Single submitter
-
DPH5 p.Pro184Leu
Uncertain significance
Single submitter
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- DPH5 p.Pro273Thr Uncertain significance Single submitter
- DPH5 p.Thr236Pro Uncertain significance Single submitter
- DPH5 p.Tyr30Cys Uncertain significance Single submitter
- DPH5 p.Val17Leu Uncertain significance Single submitter
- DPH5 p.Val95Leu Uncertain significance Single submitter
All DPH5 variants
Pathogenic 2
- p.Arg207Ter No assertion criteria neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- p.Asn110Ser No assertion criteria neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
Pathogenic/Likely pathogenic 1
- p.His260Arg Multiple submitters neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Likely pathogenic 1
- c.260+1G>T Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
Uncertain significance 36
- p.Pro104Thr Multiple submitters neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Ala111Ser Single submitter ⚠
- p.Ala223Val Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Ala234Pro Single submitter ⚠
- p.Ala33Ser Single submitter ⚠
- p.Arg224Ser Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Arg58Gly Single submitter ⚠
- p.Asp14Asn Single submitter ⚠
- p.Asp228Asn Single submitter ⚠
- p.Asp229Ala Single submitter ⚠
- p.Asp229Asn Single submitter ⚠
- p.Asp244Asn Single submitter ⚠
- p.Asp244fs Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- p.Cys219Ser Single submitter ⚠
- p.Gln204Leu Single submitter ⚠
- p.Glu60Asp Single submitter ⚠
- p.Gly257Ser Single submitter ⚠
- p.His260Gln Single submitter ⚠
- p.Ile165Val Single submitter ⚠
- p.Leu163Pro Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Leu7Phe Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Leu94Val Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Lys100Met Single submitter ⚠
- p.Lys180Asn Single submitter ⚠
- p.Met240Arg Single submitter ⚠
- p.Met264Arg Single submitter ⚠
- p.Met266Thr Single submitter ⚠
- p.Phe135Leu Single submitter ⚠
- p.Phe270Ile Single submitter ⚠
- p.Pro184Ala Single submitter ⚠
- p.Pro184Leu Single submitter neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties ⚠
- p.Pro273Thr Single submitter ⚠
- p.Thr236Pro Single submitter ⚠
- p.Tyr30Cys Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Val95Leu Single submitter ⚠