NHERF1 — 203 ClinVar variants
All ClinVar germline NHERF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
10 Conflicting · 6 Benign · 9 Benign/Likely benign · 52 Likely benign · 126 Uncertain significance
Full NHERF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
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 agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NHERF1 p.Asp301Val
Conflicting
Single submitter
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Glu149Lys
Conflicting
Single submitter
Inborn genetic diseases
- NHERF1 p.Glu68Ala Conflicting Single submitter
-
NHERF1 p.His29Asn
Conflicting
Single submitter
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Pro304Ala
Conflicting
Single submitter
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Pro44Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 87
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NHERF1 p.Ala120Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Ala81Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Arg153Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Arg194Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Arg270Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Asp322Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Cys155Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Gln196Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Gly103Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Gly23Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Gly23Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Ile219Met
Uncertain significance
Multiple submitters
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Ile264Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Leu150Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Leu41Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Lys142Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Lys305Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Met157Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Pro12Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Pro187Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Ser269Gly
Uncertain significance
Multiple submitters
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
-
NHERF1 p.Ser280Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Ser46Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Thr314Ala
Uncertain significance
Multiple submitters
hypophosphatemic nephrolithiasis/osteoporosis 2
- NHERF1 p.Ala113Pro Uncertain significance Single submitter
-
NHERF1 p.Ala120Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Ala131Pro Uncertain significance Single submitter
-
NHERF1 p.Ala218Thr
Uncertain significance
Single submitter
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- NHERF1 p.Ala274Glu Uncertain significance Single submitter
-
NHERF1 p.Ala276Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Ala334Thr Uncertain significance Single submitter
-
NHERF1 p.Ala9Glu
Uncertain significance
Single submitter
NHERF1-related disorder
- NHERF1 p.Ala9Val Uncertain significance Single submitter
-
NHERF1 p.Arg107Gly
Uncertain significance
Single submitter
NHERF1-related disorder
- NHERF1 p.Arg148His Uncertain significance Single submitter
- NHERF1 p.Arg153Leu Uncertain significance Single submitter
- NHERF1 p.Arg180Gln Uncertain significance Single submitter
- NHERF1 p.Arg180Leu Uncertain significance Single submitter
- NHERF1 p.Arg220Lys Uncertain significance Single submitter
-
NHERF1 p.Arg233Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Arg270His
Uncertain significance
Single submitter
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Arg342Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Arg80Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Asn261Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Asn268Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Asn84Asp
Uncertain significance
Single submitter
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- NHERF1 p.Asp318Asn Uncertain significance Single submitter
-
NHERF1 p.Asp318Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Asp347Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Cys15Phe Uncertain significance Single submitter
- NHERF1 p.Gln306Arg Uncertain significance Single submitter
-
NHERF1 p.Glu134Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Glu139Asp Uncertain significance Single submitter
-
NHERF1 p.Glu225Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Gly163Asp Uncertain significance Single submitter
- NHERF1 p.Gly204Val Uncertain significance Single submitter
-
NHERF1 p.Gly213Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Gly222Ser Uncertain significance Single submitter
-
NHERF1 p.Gly30Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Gly52Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.His72Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Ile245Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Leu168Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Leu168Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Leu17Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Leu83Arg Uncertain significance Single submitter
- NHERF1 p.Leu83Phe Uncertain significance Single submitter
- NHERF1 p.Lys142Asn Uncertain significance Single submitter
- NHERF1 p.Lys174Arg Uncertain significance Single submitter
-
NHERF1 p.Lys19Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Lys240Gln Uncertain significance Single submitter
-
NHERF1 p.Lys241Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Lys351Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Phe323Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Pro137Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Pro281Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Ser312Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Ser315Thr Uncertain significance Single submitter
- NHERF1 p.Ser356Gly Uncertain significance Single submitter
- NHERF1 p.Thr156Ala Uncertain significance Single submitter
-
NHERF1 p.Trp348Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Tyr164Phe Uncertain significance Single submitter
- NHERF1 p.Tyr24Cys Uncertain significance Single submitter
-
NHERF1 p.Val106Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Val128Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Gly36Asp
Uncertain significance
No assertion criteria
hypophosphatemic nephrolithiasis/osteoporosis 2
- NHERF1 p.Ile320Phe Uncertain significance No assertion criteria
Predictors split 26
The independent predictors disagree with each other — read with care.
-
NHERF1 p.Arg338Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Asp96Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Glu225Lys
Benign/Likely benign
Multiple submitters
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
-
NHERF1 p.Glu237Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Glu353Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NHERF1 p.Gly223Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NHERF1 p.Pro344Leu Uncertain significance Multiple submitters
-
NHERF1 p.Val200Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NHERF1 p.Arg87Leu Uncertain significance Single submitter
-
NHERF1 p.Asn66Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Glu109Val Likely benign Single submitter
-
NHERF1 p.Glu189Lys
Uncertain significance
Single submitter
hypophosphatemic nephrolithiasis/osteoporosis 2
-
NHERF1 p.Glu237Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Glu353Gln Uncertain significance Single submitter
-
NHERF1 p.His27Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Leu229Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Lys32Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Lys34Asn Uncertain significance Single submitter
-
NHERF1 p.Pro12Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Pro21Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Pro344Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NHERF1 p.Ser173Phe
Conflicting
Single submitter
Inborn genetic diseases
- NHERF1 p.Val215Met Uncertain significance Single submitter
-
NHERF1 p.Val231Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NHERF1 p.Asp236Glu Uncertain significance No assertion criteria
- NHERF1 p.Pro344Ala Uncertain significance No assertion criteria
All NHERF1 variants
Conflicting classifications of pathogenicity 10
- c.758-3T>C Single submitter
- c.888+2T>C Single submitter Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- p.Arg153Gln Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2
- p.Asp301Val Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Glu149Lys Single submitter Inborn genetic diseases ⚠
- p.Glu68Ala Single submitter ⚠
- p.His29Asn Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Pro304Ala Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Pro44Ala Single submitter Inborn genetic diseases ⚠
- p.Ser173Phe Single submitter Inborn genetic diseases ⚠
Benign 6
- c.441+7G>A Single submitter
- c.758-174A>T Single submitter
- c.758-192C>T Single submitter
- c.758-322A>G Single submitter
- c.799-177A>G Single submitter
- c.888+21dup Single submitter
Benign/Likely benign 9
- c.441+14A>G Multiple submitters
- c.888+13T>C Multiple submitters hypophosphatemic nephrolithiasis/osteoporosis 2
- p.Asn167= Multiple submitters
- p.Asp185Glu Multiple submitters
- p.Glu225Lys Multiple submitters Dominant hypophosphatemia with nephrolithiasis or osteoporosis ⚠
- p.Gly209= Multiple submitters
- p.His144= Multiple submitters
- p.Leu110Val Multiple submitters hypophosphatemic nephrolithiasis/osteoporosis 2
- p.Leu89= Multiple submitters
Likely benign 52
- p.Asn84= Multiple submitters hypophosphatemic nephrolithiasis/osteoporosis 2
- c.441+8G>A Single submitter
- c.442-18C>A Single submitter
- c.603+17T>G Single submitter
- c.604-6C>T Single submitter
- c.757+18A>G Single submitter
- c.758-14T>G Single submitter
- c.798+17T>C Single submitter
- c.799-11C>G Single submitter
- c.888+14G>A Single submitter
- c.888+16G>A Single submitter
- c.888+16G>C Single submitter
- c.888+18G>C Single submitter
- c.888+18G>T Single submitter
- p.Ala120= Single submitter
- p.Ala140= Single submitter
- p.Ala195= Single submitter
- p.Ala289Thr Single submitter Inborn genetic diseases
- p.Ala55= Single submitter
- p.Ala85= Single submitter
- p.Arg148= Single submitter
- p.Arg180Trp Single submitter
- p.Arg40= Single submitter
- p.Arg87= Single submitter
- p.Asn203= Single submitter
- p.Asn268= Single submitter
- p.Asn352= Single submitter
- p.Asn84Ser Single submitter
- p.Asp224= Single submitter
- p.Asp236= Single submitter
- p.Gln248= Single submitter
- p.Gln336= Single submitter
- p.Gln345= Single submitter
- p.Glu109Val Single submitter ⚠
- p.Glu70= Single submitter
- p.Gly103= Single submitter
- p.Leu110= Single submitter
- p.Leu228= Single submitter
- p.Leu229= Single submitter
- p.Lys19= Single submitter
- p.Lys50= Single submitter
- p.Pro10= Single submitter
- p.Pro122= Single submitter
- p.Pro187= Single submitter
- p.Pro254= Single submitter
- p.Pro344= Single submitter
- p.Pro44= Single submitter
- p.Ser312= Single submitter
- p.Ser317= Single submitter
- p.Ser326= Single submitter
- p.Val231= Single submitter
- p.Leu285= No assertion criteria NHERF1-related disorder
Uncertain significance 126
- p.Ala120Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala81Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg151Trp Multiple submitters Inborn genetic diseases
- p.Arg153Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg194Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg198His Multiple submitters Inborn genetic diseases
- p.Arg270Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg338Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp322Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp96Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys155Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln196Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu237Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu353Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly103Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly223Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly23Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly23Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile219Met Multiple submitters hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Ile264Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu150Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu41Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys142Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys305Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met157Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro12Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro187Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro344Leu Multiple submitters ⚠
- p.Ser269Gly Multiple submitters Dominant hypophosphatemia with nephrolithiasis or osteoporosis ⚠
- p.Ser280Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser46Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr314Ala Multiple submitters hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Val200Met Multiple submitters Inborn genetic diseases ⚠
- c.441+13_441+14inv Single submitter
- c.603+4A>G Single submitter
- c.757+13G>A Single submitter
- c.798+4A>G Single submitter
- p.Ala113Pro Single submitter ⚠
- p.Ala120Asp Single submitter Inborn genetic diseases ⚠
- p.Ala131Pro Single submitter ⚠
- p.Ala218Thr Single submitter Dominant hypophosphatemia with nephrolithiasis or osteoporosis ⚠
- p.Ala274Glu Single submitter ⚠
- p.Ala276Glu Single submitter Inborn genetic diseases ⚠
- p.Ala334Thr Single submitter ⚠
- p.Ala9Glu Single submitter NHERF1-related disorder ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg107Gly Single submitter NHERF1-related disorder ⚠
- p.Arg148His Single submitter ⚠
- p.Arg153Leu Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg180Leu Single submitter ⚠
- p.Arg220Lys Single submitter ⚠
- p.Arg233Gly Single submitter Inborn genetic diseases ⚠
- p.Arg270His Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Arg342Gln Single submitter Inborn genetic diseases ⚠
- p.Arg80Cys Single submitter Inborn genetic diseases ⚠
- p.Arg87fs Single submitter
- p.Arg87Leu Single submitter ⚠
- p.Asn261Ile Single submitter Inborn genetic diseases ⚠
- p.Asn268Lys Single submitter Inborn genetic diseases ⚠
- p.Asn66Lys Single submitter Inborn genetic diseases ⚠
- p.Asn84Asp Single submitter Dominant hypophosphatemia with nephrolithiasis or osteoporosis ⚠
- p.Asp141del Single submitter
- p.Asp318Asn Single submitter ⚠
- p.Asp318Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp347Glu Single submitter Inborn genetic diseases ⚠
- p.Cys15Phe Single submitter ⚠
- p.Gln177Ter Single submitter
- p.Gln306Arg Single submitter ⚠
- p.Glu109Leu Single submitter
- p.Glu109Ter Single submitter
- p.Glu134Lys Single submitter Inborn genetic diseases ⚠
- p.Glu136Ter Single submitter
- p.Glu139Asp Single submitter ⚠
- p.Glu189Lys Single submitter hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Glu225fs Single submitter
- p.Glu225Gln Single submitter Inborn genetic diseases ⚠
- p.Glu237Gln Single submitter Inborn genetic diseases ⚠
- p.Glu353Gln Single submitter ⚠
- p.Gly163Asp Single submitter ⚠
- p.Gly204Arg Single submitter
- p.Gly204Val Single submitter ⚠
- p.Gly213Ala Single submitter Inborn genetic diseases ⚠
- p.Gly222Ser Single submitter ⚠
- p.Gly30Glu Single submitter Inborn genetic diseases ⚠
- p.Gly52Arg Single submitter Inborn genetic diseases ⚠
- p.His27Gln Single submitter Inborn genetic diseases ⚠
- p.His72Gln Single submitter Inborn genetic diseases ⚠
- p.Ile245Ser Single submitter Inborn genetic diseases ⚠
- p.Leu168Met Single submitter Inborn genetic diseases ⚠
- p.Leu168Val Single submitter Inborn genetic diseases ⚠
- p.Leu17Val Single submitter Inborn genetic diseases ⚠
- p.Leu229Val Single submitter Inborn genetic diseases ⚠
- p.Leu83Arg Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Lys142Asn Single submitter ⚠
- p.Lys174Arg Single submitter ⚠
- p.Lys19Arg Single submitter Inborn genetic diseases ⚠
- p.Lys240Gln Single submitter ⚠
- p.Lys241Arg Single submitter Inborn genetic diseases ⚠
- p.Lys32Asn Single submitter Inborn genetic diseases ⚠
- p.Lys34Asn Single submitter ⚠
- p.Lys351Arg Single submitter Inborn genetic diseases ⚠
- p.Phe323Val Single submitter Inborn genetic diseases ⚠
- p.Pro12Thr Single submitter Inborn genetic diseases ⚠
- p.Pro137Leu Single submitter Inborn genetic diseases ⚠
- p.Pro21Arg Single submitter Inborn genetic diseases ⚠
- p.Pro281Leu Single submitter Inborn genetic diseases ⚠
- p.Pro344Arg Single submitter Inborn genetic diseases ⚠
- p.Ser312Leu Single submitter Inborn genetic diseases ⚠
- p.Ser315Thr Single submitter ⚠
- p.Ser356Gly Single submitter ⚠
- p.Thr156Ala Single submitter ⚠
- p.Trp348Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr164Phe Single submitter ⚠
- p.Tyr24Cys Single submitter ⚠
- p.Val106Ile Single submitter Inborn genetic diseases ⚠
- p.Val128Leu Single submitter Inborn genetic diseases ⚠
- p.Val215Met Single submitter ⚠
- p.Val231Leu Single submitter Inborn genetic diseases ⚠
- p.Asp236Glu No assertion criteria ⚠
- p.Glu68del No assertion criteria
- p.Gly36Asp No assertion criteria hypophosphatemic nephrolithiasis/osteoporosis 2 ⚠
- p.Ile320Phe No assertion criteria ⚠
- p.Leu11= No assertion criteria
- p.Pro344Ala No assertion criteria ⚠