SLC7A7 — 814 ClinVar variants

All ClinVar germline SLC7A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

47 Pathogenic · 28 Pathogenic/Likely pathogenic · 62 Likely pathogenic · 30 Conflicting · 37 Benign · 7 Benign/Likely benign · 325 Likely benign · 278 Uncertain significance

Full SLC7A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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.

SLC7A7 p.Phe152Leu Likely pathogenic No assertion criteria
lysinuric protein intolerance

Predictors agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SLC7A7 p.Ala347Thr Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Arg159Cys Conflicting Single submitter
autoinflammatory syndrome
SLC7A7 p.Glu376Asp Conflicting Single submitter
autoinflammatory syndrome
SLC7A7 p.Gly338Asp Conflicting Single submitter
SLC7A7-related disorder
SLC7A7 p.Gly54Val Conflicting Single submitter
SLC7A7-related disorder
SLC7A7 p.Gly79Arg Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile311Val Conflicting Single submitter
autoinflammatory syndrome
SLC7A7 p.Ile441Val Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu147Phe Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro345Arg Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser489Pro Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser53Leu Conflicting Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr17Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 173

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 173

SLC7A7 p.Ala105Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Ala197Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Ala235Val Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ala295Pro Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Ala91Glu Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Arg159His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Arg404His Uncertain significance Multiple submitters
autoinflammatory syndrome
SLC7A7 p.Arg412His Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Arg506Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Asn141Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Asn246Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Asp185Gly Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Asp439Asn Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Asp507Gly Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Gln484Arg Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Glu497Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Gly112Glu Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Gly202Asp Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Gly306Arg Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Gly338Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile166Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Ile252Asn Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile269Val Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile397Val Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile449Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Leu318Phe Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Leu395His Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Leu472Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Leu81Phe Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Leu81Pro Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Lys467Met Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Lys99Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Met287Arg Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Met502Thr Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Phe379Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Pro154Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Pro19Thr Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Pro408Thr Uncertain significance Multiple submitters
SLC7A7 p.Pro469Leu Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Thr299Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Trp310Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Trp390Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Trp76Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Tyr274Cys Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Tyr90Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Val183Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Val200Ile Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Val296Ile Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Val84Ile Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ala133Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala136Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala140Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala157Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala175Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Ala194Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala197Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala201Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala479Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ala479Val Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Arg288Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Arg355Trp Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Arg404Cys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Arg412Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Asn278Ile Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asn278Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Asn325Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asn365Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp286Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp377Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp409His Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp439Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp507Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Cys167Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Cys425Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Cys425Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Glu109Gln Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Glu14Lys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Glu219Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Glu219Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Glu250Lys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly207Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Gly220Asp Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly342Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly366Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly42Ser Uncertain significance Single submitter
SLC7A7 p.Gly446Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly52Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly70Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly79Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Gly86Glu Uncertain significance Single submitter
SLC7A7 p.His343Tyr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.His352Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Ile304Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile307Met Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Ile351Met Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile429Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Ile445Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile447Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile475Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile64Lys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile64Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu120His Uncertain significance Single submitter
SLC7A7 p.Leu193Ser Uncertain significance Single submitter
SLC7A7 p.Leu261Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu285Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu344Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu370Phe Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu373Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu395Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu403Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu40Phe Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu436Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu486Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Lys191Glu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Lys415Glu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Lys504Met Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Lys509Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Met143Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Met287Ile Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Met350Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Met368Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Met488Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Met494Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe111Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe117Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe148Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe218Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe305Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Phe335Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe424Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Phe430Val Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro154Ala Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro255Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro260Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro260Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro421Gln Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro421Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro469Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser158Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser211Cys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser221Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser221Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser319Phe Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser83Tyr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr181Asn Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr428Ala Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr428Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr480Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Thr95Pro Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Trp179Arg Uncertain significance Single submitter
lysinuric protein intolerance

Predictors split 52

The independent predictors disagree with each other — read with care.

SLC7A7 p.Ala163Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Arg410Gln Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Arg468Gln Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Gly220Arg Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile118Phe Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile127Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Ile199Val Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ile228Thr Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Leu261Phe Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Leu444Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SLC7A7 p.Leu63Phe Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Phe335Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Pro149Leu Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Pro469Ser Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Val375Met Uncertain significance Multiple submitters
lysinuric protein intolerance
SLC7A7 p.Ala136Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Arg355Gln Conflicting Single submitter
autoinflammatory syndrome
SLC7A7 p.Asn141Tyr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asn254His Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Asp439Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Cys425Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Cys427Tyr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Cys487Tyr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gln145Arg Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Glu219Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Glu407Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Gly61Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile269Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile371Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile422Met Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile422Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ile441Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu318Ser Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Leu401Phe Uncertain significance Single submitter
SLC7A7 p.Lys60Arg Uncertain significance Single submitter
autoinflammatory syndrome
SLC7A7 p.Met50Thr Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro146Leu Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Pro149Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Pro268Thr Uncertain significance Single submitter
SLC7A7-related disorder
SLC7A7 p.Pro345Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Pro411Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Ser103Asn Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser386Cys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Ser66Gly Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr249Ile Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Thr96Ala Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Tyr176Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Tyr189Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC7A7 p.Tyr385Cys Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Tyr90Phe Uncertain significance Single submitter
lysinuric protein intolerance
SLC7A7 p.Gly399Ser Uncertain significance No assertion criteria
SLC7A7 p.Leu459Ile Uncertain significance No assertion criteria
lysinuric protein intolerance

All SLC7A7 variants

Pathogenic 47

c.1429+1G>C Multiple submitters lysinuric protein intolerance
c.625+1G>A Multiple submitters SLC7A7-related disorder
c.895-2A>G Multiple submitters lysinuric protein intolerance
c.895-2A>T Multiple submitters lysinuric protein intolerance
p.Cys374Ter Multiple submitters lysinuric protein intolerance
p.Leu334Arg Multiple submitters lysinuric protein intolerance
p.Ser396fs Multiple submitters lysinuric protein intolerance
p.Ser72fs Multiple submitters lysinuric protein intolerance
p.Trp242Ter Multiple submitters autoinflammatory syndrome
p.Tyr233_Ser234insTer Multiple submitters lysinuric protein intolerance
p.Val183fs Multiple submitters SLC7A7-related disorder
c.1095+2del Single submitter lysinuric protein intolerance
c.1429+2T>C Single submitter lysinuric protein intolerance
c.499+1G>A Single submitter lysinuric protein intolerance
c.625+1G>C Single submitter lysinuric protein intolerance
c.894+1G>C Single submitter lysinuric protein intolerance
c.895-2_895delinsCCATT Single submitter lysinuric protein intolerance
c.998+1G>T Single submitter lysinuric protein intolerance
p.Ala164fs Single submitter lysinuric protein intolerance
p.Ala297fs Single submitter lysinuric protein intolerance
p.Ala317fs Single submitter lysinuric protein intolerance
p.Arg404_Trp405insTer Single submitter lysinuric protein intolerance
p.Cys167Ter Single submitter lysinuric protein intolerance
p.Cys427Ter Single submitter lysinuric protein intolerance
p.Cys89_Tyr90insTer Single submitter lysinuric protein intolerance
p.Gln208Ter Single submitter lysinuric protein intolerance
p.Glu251fs Single submitter lysinuric protein intolerance
p.Gly207fs Single submitter lysinuric protein intolerance
p.Gly453fs Single submitter lysinuric protein intolerance
p.Ile203fs Single submitter lysinuric protein intolerance
p.Ile273fs Single submitter lysinuric protein intolerance
p.Ile367fs Single submitter lysinuric protein intolerance
p.Leu124fs Single submitter lysinuric protein intolerance
p.Leu161fs Single submitter lysinuric protein intolerance
p.Leu324fs Single submitter lysinuric protein intolerance
p.Leu403fs Single submitter lysinuric protein intolerance
p.Lys178fs Single submitter lysinuric protein intolerance
p.Lys467fs Single submitter lysinuric protein intolerance
p.Lys99fs Single submitter lysinuric protein intolerance
p.Phe214fs Single submitter lysinuric protein intolerance
p.Pro345fs Single submitter lysinuric protein intolerance
p.Ser53Ter Single submitter lysinuric protein intolerance
p.Thr212fs Single submitter lysinuric protein intolerance
p.Trp179Ter Single submitter lysinuric protein intolerance
p.Tyr155Ter Single submitter lysinuric protein intolerance
p.Val204fs Single submitter lysinuric protein intolerance
p.Val43fs Single submitter lysinuric protein intolerance

Pathogenic/Likely pathogenic 28

c.625+1G>T Multiple submitters lysinuric protein intolerance
c.770+1del Multiple submitters lysinuric protein intolerance
c.770+1G>T Multiple submitters lysinuric protein intolerance
c.894+1G>T Multiple submitters lysinuric protein intolerance
p.Ala116fs Multiple submitters lysinuric protein intolerance
p.Ala153fs Multiple submitters lysinuric protein intolerance
p.Arg410Ter Multiple submitters lysinuric protein intolerance
p.Arg468Ter Multiple submitters lysinuric protein intolerance
p.Arg473Ter Multiple submitters SLC7A7-related disorder
p.Asn173fs Multiple submitters lysinuric protein intolerance
p.Glu256Ter Multiple submitters lysinuric protein intolerance
p.Glu465fs Multiple submitters lysinuric protein intolerance
p.Gly180fs Multiple submitters lysinuric protein intolerance
p.Ile126fs Multiple submitters lysinuric protein intolerance
p.Ile422fs Multiple submitters lysinuric protein intolerance
p.Ile461fs Multiple submitters lysinuric protein intolerance
p.Lys415fs Multiple submitters lysinuric protein intolerance
p.Phe335Leufs Multiple submitters lysinuric protein intolerance
p.Phe430fs Multiple submitters lysinuric protein intolerance
p.Ser238Phe Multiple submitters lysinuric protein intolerance
p.Ser443fs Multiple submitters lysinuric protein intolerance
p.Thr96fs Multiple submitters lysinuric protein intolerance
p.Trp310Ter Multiple submitters lysinuric protein intolerance
p.Tyr142_Gln145delinsTer Multiple submitters lysinuric protein intolerance
p.Tyr372Ter Multiple submitters lysinuric protein intolerance
p.Tyr384Ter Multiple submitters lysinuric protein intolerance
p.Val192fs Multiple submitters lysinuric protein intolerance
p.Val463fs Multiple submitters lysinuric protein intolerance

Likely pathogenic 62

c.999-1G>T Multiple submitters SLC7A7-related disorder
p.Arg288fs Multiple submitters SLC7A7-related disorder
p.Arg333Met Multiple submitters lysinuric protein intolerance
p.Gly338fs Multiple submitters lysinuric protein intolerance
p.Leu124Pro Multiple submitters lysinuric protein intolerance
p.Leu40fs Multiple submitters lysinuric protein intolerance
p.Met50Lys Multiple submitters lysinuric protein intolerance
p.Tyr457Ter Multiple submitters lysinuric protein intolerance
c.1095+2dup Single submitter SLC7A7-related disorder
c.1095+2T>C Single submitter lysinuric protein intolerance
c.1095+2T>G Single submitter lysinuric protein intolerance
c.1096-2_1097dup Single submitter lysinuric protein intolerance
c.1245+2T>C Single submitter lysinuric protein intolerance
c.1246-26_1248del Single submitter lysinuric protein intolerance
c.(499_500 Single submitter hereditary spherocytosis type 4
c.499+1G>C Single submitter lysinuric protein intolerance
c.499+2T>G Single submitter lysinuric protein intolerance
c.626-2A>G Single submitter lysinuric protein intolerance
c.626-2A>T Single submitter lysinuric protein intolerance
c.770+1G>A Single submitter lysinuric protein intolerance
c.895-1G>A Single submitter lysinuric protein intolerance
c.998+1G>A Single submitter lysinuric protein intolerance
c.999-1G>A Single submitter SLC7A7-related disorder
c.999-1G>C Single submitter lysinuric protein intolerance
p.Ala102Val Single submitter lysinuric protein intolerance
p.Ala448fs Single submitter lysinuric protein intolerance
p.Arg462fs Single submitter lysinuric protein intolerance
p.Asn141fs Single submitter lysinuric protein intolerance
p.Asn216fs Single submitter lysinuric protein intolerance
p.Asn41fs Single submitter lysinuric protein intolerance
p.Cys487fs Single submitter lysinuric protein intolerance
p.Cys487Ter Single submitter lysinuric protein intolerance
p.Gly306Ter Single submitter lysinuric protein intolerance
p.Gly399fs Single submitter lysinuric protein intolerance
p.Ile199fs Single submitter lysinuric protein intolerance
p.Ile351fs Single submitter lysinuric protein intolerance
p.Ile371fs Single submitter lysinuric protein intolerance
p.Leu108fs Single submitter lysinuric protein intolerance
p.Leu314_Ser315insTer Single submitter lysinuric protein intolerance
p.Lys60fs Single submitter lysinuric protein intolerance
p.Phe223fs Single submitter lysinuric protein intolerance
p.Phe85fs Single submitter lysinuric protein intolerance
p.Pro154fs Single submitter lysinuric protein intolerance
p.Ser150fs Single submitter lysinuric protein intolerance
p.Ser386Arg Single submitter lysinuric protein intolerance
p.Ser388fs Single submitter SLC7A7-related disorder
p.Ser452fs Single submitter lysinuric protein intolerance
p.Thr244fs Single submitter lysinuric protein intolerance
p.Trp121Ter Single submitter lysinuric protein intolerance
p.Trp310fs Single submitter lysinuric protein intolerance
p.Trp390Ter Single submitter lysinuric protein intolerance
p.Trp405Ter Single submitter lysinuric protein intolerance
p.Tyr104fs Single submitter lysinuric protein intolerance
p.Tyr274fs Single submitter lysinuric protein intolerance
p.Tyr437fs Single submitter lysinuric protein intolerance
p.Val432fs Single submitter lysinuric protein intolerance
p.Asn365Tyr No assertion criteria lysinuric protein intolerance
p.Glu251Asp No assertion criteria lysinuric protein intolerance
p.Ile449fs No assertion criteria lysinuric protein intolerance
p.Phe152Leu No assertion criteria lysinuric protein intolerance ⚠
p.Pro421fs No assertion criteria lysinuric protein intolerance
p.Thr188Ile No assertion criteria lysinuric protein intolerance

Conflicting classifications of pathogenicity 30

c.1095+6T>C Single submitter autoinflammatory syndrome
c.1246-12C>T Single submitter lysinuric protein intolerance
c.894+6G>A Single submitter lysinuric protein intolerance
c.*272C>T Single submitter lysinuric protein intolerance
p.Ala347Thr Single submitter lysinuric protein intolerance ⚠
p.Ala67= Single submitter lysinuric protein intolerance
p.Arg159Cys Single submitter autoinflammatory syndrome ⚠
p.Arg333= Single submitter autoinflammatory syndrome
p.Arg355Gln Single submitter autoinflammatory syndrome ⚠
p.Asn41= Single submitter lysinuric protein intolerance
p.Asp498= Single submitter lysinuric protein intolerance
p.Gln132Ter Single submitter lysinuric protein intolerance
p.Glu376Asp Single submitter autoinflammatory syndrome ⚠
p.Gly113= Single submitter lysinuric protein intolerance
p.Gly338Asp Single submitter SLC7A7-related disorder ⚠
p.Gly54Val Single submitter SLC7A7-related disorder ⚠
p.Gly79Arg Single submitter lysinuric protein intolerance ⚠
p.Ile311Val Single submitter autoinflammatory syndrome ⚠
p.Ile441Val Single submitter lysinuric protein intolerance ⚠
p.Leu147Phe Single submitter lysinuric protein intolerance ⚠
p.Leu324= Single submitter lysinuric protein intolerance
p.Phe114= Single submitter lysinuric protein intolerance
p.Pro345Arg Single submitter lysinuric protein intolerance ⚠
p.Ser240= Single submitter autoinflammatory syndrome
p.Ser489Pro Single submitter lysinuric protein intolerance ⚠
p.Ser53Leu Single submitter lysinuric protein intolerance ⚠
p.Thr17Ala Single submitter Inborn genetic diseases ⚠
p.Trp121Arg Single submitter lysinuric protein intolerance
p.Val183= Single submitter lysinuric protein intolerance
p.Val78= Single submitter lysinuric protein intolerance

Benign 37

c.1095+111A>G Multiple submitters lysinuric protein intolerance
c.1430-55T>C Multiple submitters lysinuric protein intolerance
c.500-279T>C Multiple submitters
c.500-32T>C Multiple submitters lysinuric protein intolerance
c.500-67T>C Multiple submitters
c.894+103A>G Multiple submitters
c.895-107T>C Multiple submitters
c.998+113T>A Multiple submitters
c.-174-488A>G Multiple submitters
c.-175+136T>C Multiple submitters
c.-263G>C Multiple submitters lysinuric protein intolerance
c.-281T>C Multiple submitters lysinuric protein intolerance
c.-42-101T>G Multiple submitters
c.-42-24T>C Multiple submitters
c.-42-50T>A Multiple submitters
c.-86T>C Multiple submitters lysinuric protein intolerance
p.Gly220= Multiple submitters lysinuric protein intolerance
p.Lys509= Multiple submitters lysinuric protein intolerance
p.Phe152= Multiple submitters autoinflammatory syndrome
c.1095+181_1095+185del Single submitter
c.1095+188_1095+198del Single submitter
c.1095+211_1095+215del Single submitter
c.499+109TA[10] Single submitter
c.499+109TA[11] Single submitter
c.499+109TA[7] Single submitter
c.499+259_499+260del Single submitter
c.499+260del Single submitter
c.500-149del Single submitter
c.626-158C>A Single submitter
c.770+211dup Single submitter
c.770+315A>G Single submitter
c.771-18del Single submitter lysinuric protein intolerance
c.771-260C>T Single submitter
c.895-114C>T Single submitter
c.895-20C>T Single submitter lysinuric protein intolerance
c.-264C>T Single submitter lysinuric protein intolerance
c.-42-263_-42-260dup Single submitter

Benign/Likely benign 7

c.1245+10C>T Multiple submitters lysinuric protein intolerance
c.1246-24_1246-20del Multiple submitters lysinuric protein intolerance
c.500-20C>G Multiple submitters lysinuric protein intolerance
p.Ala91Val Multiple submitters autoinflammatory syndrome
p.Ile166= Multiple submitters lysinuric protein intolerance
p.Leu373= Multiple submitters lysinuric protein intolerance
p.Ser53= Multiple submitters lysinuric protein intolerance

Likely benign 325

Showing the top 300 by review status; the full set is in the sitemap.

c.1095+138C>T Multiple submitters
c.1095+14A>G Multiple submitters lysinuric protein intolerance
c.1095+275C>T Multiple submitters
c.1095+38C>T Multiple submitters
c.1429+8G>A Multiple submitters lysinuric protein intolerance
c.1430-14dup Multiple submitters lysinuric protein intolerance
c.1430-8C>T Multiple submitters lysinuric protein intolerance
c.500-20C>T Multiple submitters lysinuric protein intolerance
c.625+10A>G Multiple submitters lysinuric protein intolerance
c.625+17G>A Multiple submitters lysinuric protein intolerance
c.625+18T>C Multiple submitters lysinuric protein intolerance
c.771-12A>G Multiple submitters lysinuric protein intolerance
c.771-147G>T Multiple submitters
c.894+13dup Multiple submitters lysinuric protein intolerance
c.998+104C>T Multiple submitters
c.999-16A>G Multiple submitters lysinuric protein intolerance
p.Ala197= Multiple submitters lysinuric protein intolerance
p.Ala91= Multiple submitters lysinuric protein intolerance
p.Asn141= Multiple submitters lysinuric protein intolerance
p.Asp227= Multiple submitters lysinuric protein intolerance
p.Asp294= Multiple submitters lysinuric protein intolerance
p.Cys374= Multiple submitters lysinuric protein intolerance
p.Cys427= Multiple submitters lysinuric protein intolerance
p.Ile196= Multiple submitters lysinuric protein intolerance
p.Ile265= Multiple submitters lysinuric protein intolerance
p.Ile460Met Multiple submitters autoinflammatory syndrome
p.Ile475= Multiple submitters lysinuric protein intolerance
p.Leu125= Multiple submitters lysinuric protein intolerance
p.Leu230= Multiple submitters lysinuric protein intolerance
p.Pro149= Multiple submitters lysinuric protein intolerance
p.Ser327= Multiple submitters lysinuric protein intolerance
p.Ser361= Multiple submitters lysinuric protein intolerance
p.Ser452= Multiple submitters lysinuric protein intolerance
p.Thr130= Multiple submitters lysinuric protein intolerance
p.Tyr233= Multiple submitters lysinuric protein intolerance
c.1095+13A>T Single submitter lysinuric protein intolerance
c.1095+15G>C Single submitter lysinuric protein intolerance
c.1095+16G>A Single submitter
c.1095+20A>T Single submitter lysinuric protein intolerance
c.1095+20del Single submitter lysinuric protein intolerance
c.1095+28A>G Single submitter
c.1095+7G>C Single submitter lysinuric protein intolerance
c.1095+9A>C Single submitter lysinuric protein intolerance
c.1096-11C>T Single submitter lysinuric protein intolerance
c.1096-14G>A Single submitter lysinuric protein intolerance
c.1096-17T>C Single submitter lysinuric protein intolerance
c.1096-18T>C Single submitter lysinuric protein intolerance
c.1096-19C>G Single submitter lysinuric protein intolerance
c.1096-6_1096-5dup Single submitter lysinuric protein intolerance
c.1096-7C>T Single submitter lysinuric protein intolerance
c.1096-8G>A Single submitter lysinuric protein intolerance
c.1096-8G>C Single submitter lysinuric protein intolerance
c.1096-9C>T Single submitter
c.1245+13C>T Single submitter lysinuric protein intolerance
c.1245+17C>A Single submitter lysinuric protein intolerance
c.1245+20C>T Single submitter lysinuric protein intolerance
c.1245+53C>T Single submitter
c.1245+9A>G Single submitter lysinuric protein intolerance
c.1246-13C>T Single submitter lysinuric protein intolerance
c.1246-16T>C Single submitter lysinuric protein intolerance
c.1246-18T>C Single submitter lysinuric protein intolerance
c.1246-19_1246-18del Single submitter lysinuric protein intolerance
c.1246-6C>T Single submitter lysinuric protein intolerance
c.1246-73A>C Single submitter
c.1246-7C>T Single submitter lysinuric protein intolerance
c.1246-8G>A Single submitter lysinuric protein intolerance
c.1429+10G>A Single submitter lysinuric protein intolerance
c.1429+11C>T Single submitter lysinuric protein intolerance
c.1429+12A>C Single submitter lysinuric protein intolerance
c.1429+15_1429+17del Single submitter lysinuric protein intolerance
c.1429+15C>A Single submitter lysinuric protein intolerance
c.1429+18A>C Single submitter lysinuric protein intolerance
c.1429+19A>G Single submitter lysinuric protein intolerance
c.1429+24G>A Single submitter
c.1429+52C>A Single submitter
c.1429+7C>T Single submitter lysinuric protein intolerance
c.1429+8G>C Single submitter lysinuric protein intolerance
c.1429+9T>C Single submitter lysinuric protein intolerance
c.1430-18T>C Single submitter lysinuric protein intolerance
c.1430-6T>C Single submitter lysinuric protein intolerance
c.1430-8C>A Single submitter lysinuric protein intolerance
c.499+109TA[20] Single submitter
c.499+109TA[21] Single submitter
c.499+109TA[22] Single submitter
c.499+258_499+260del Single submitter
c.499+9G>C Single submitter lysinuric protein intolerance
c.499+9G>T Single submitter lysinuric protein intolerance
c.500-13_500-11del Single submitter
c.500-14T>C Single submitter lysinuric protein intolerance
c.500-17T>C Single submitter lysinuric protein intolerance
c.500-18G>C Single submitter lysinuric protein intolerance
c.625+12T>C Single submitter lysinuric protein intolerance
c.625+7A>G Single submitter lysinuric protein intolerance
c.625+8A>G Single submitter lysinuric protein intolerance
c.625+9del Single submitter lysinuric protein intolerance
c.625+9T>C Single submitter lysinuric protein intolerance
c.626-13T>A Single submitter lysinuric protein intolerance
c.626-14T>G Single submitter lysinuric protein intolerance
c.626-18A>C Single submitter lysinuric protein intolerance
c.626-18A>G Single submitter lysinuric protein intolerance
c.626-8G>T Single submitter lysinuric protein intolerance
c.770+10G>A Single submitter lysinuric protein intolerance
c.770+16C>A Single submitter lysinuric protein intolerance
c.770+16C>T Single submitter lysinuric protein intolerance
c.770+19_770+26del Single submitter lysinuric protein intolerance
c.770+19dup Single submitter lysinuric protein intolerance
c.770+7A>G Single submitter lysinuric protein intolerance
c.770+9T>G Single submitter lysinuric protein intolerance
c.771-109C>T Single submitter
c.771-10T>C Single submitter lysinuric protein intolerance
c.771-11T>A Single submitter lysinuric protein intolerance
c.771-11T>C Single submitter lysinuric protein intolerance
c.771-138A>C Single submitter
c.771-15T>G Single submitter lysinuric protein intolerance
c.771-19T>C Single submitter lysinuric protein intolerance
c.771-5T>C Single submitter lysinuric protein intolerance
c.894+10T>A Single submitter lysinuric protein intolerance
c.894+15C>T Single submitter lysinuric protein intolerance
c.894+19C>T Single submitter lysinuric protein intolerance
c.894+8A>G Single submitter lysinuric protein intolerance
c.895-14T>C Single submitter lysinuric protein intolerance
c.895-15A>G Single submitter lysinuric protein intolerance
c.895-20_895-19del Single submitter lysinuric protein intolerance
c.895-6C>T Single submitter lysinuric protein intolerance
c.895-7C>G Single submitter lysinuric protein intolerance
c.998+10G>A Single submitter lysinuric protein intolerance
c.998+10G>T Single submitter lysinuric protein intolerance
c.998+11C>T Single submitter lysinuric protein intolerance
c.998+13A>C Single submitter lysinuric protein intolerance
c.998+13A>T Single submitter lysinuric protein intolerance
c.998+15T>A Single submitter lysinuric protein intolerance
c.998+16T>C Single submitter lysinuric protein intolerance
c.998+19G>C Single submitter lysinuric protein intolerance
c.998+7G>C Single submitter lysinuric protein intolerance
c.998+8T>C Single submitter lysinuric protein intolerance
c.998+9G>A Single submitter lysinuric protein intolerance
c.998+9G>C Single submitter lysinuric protein intolerance
c.999-10C>T Single submitter lysinuric protein intolerance
c.999-14C>G Single submitter lysinuric protein intolerance
c.999-19C>G Single submitter lysinuric protein intolerance
c.999-19C>T Single submitter lysinuric protein intolerance
c.999-4A>G Single submitter lysinuric protein intolerance
c.999-5C>T Single submitter lysinuric protein intolerance
c.999-75G>A Single submitter
c.-175+3GA[3] Single submitter
c.-190A>G Single submitter
c.-42-11C>T Single submitter lysinuric protein intolerance
c.*134A>G Single submitter
c.*141T>G Single submitter lysinuric protein intolerance
c.*145del Single submitter
c.*8C>G Single submitter
p.Ala110= Single submitter lysinuric protein intolerance
p.Ala133= Single submitter lysinuric protein intolerance
p.Ala140= Single submitter lysinuric protein intolerance
p.Ala153= Single submitter lysinuric protein intolerance
p.Ala156= Single submitter lysinuric protein intolerance
p.Ala157= Single submitter lysinuric protein intolerance
p.Ala162= Single submitter lysinuric protein intolerance
p.Ala175= Single submitter lysinuric protein intolerance
p.Ala201= Single submitter lysinuric protein intolerance
p.Ala297= Single submitter lysinuric protein intolerance
p.Ala317= Single submitter lysinuric protein intolerance
p.Ala331= Single submitter lysinuric protein intolerance
p.Ala347= Single submitter lysinuric protein intolerance
p.Ala369= Single submitter lysinuric protein intolerance
p.Ala448= Single submitter lysinuric protein intolerance
p.Ala450= Single submitter lysinuric protein intolerance
p.Ala492= Single submitter lysinuric protein intolerance
p.Arg159= Single submitter lysinuric protein intolerance
p.Arg205= Single submitter lysinuric protein intolerance
p.Arg288= Single submitter lysinuric protein intolerance
p.Arg355= Single submitter lysinuric protein intolerance
p.Arg410= Single submitter lysinuric protein intolerance
p.Arg473= Single submitter lysinuric protein intolerance
p.Arg481= Single submitter lysinuric protein intolerance
p.Arg506= Single submitter lysinuric protein intolerance
p.Asn173= Single submitter lysinuric protein intolerance
p.Asn254= Single submitter lysinuric protein intolerance
p.Asn278= Single submitter lysinuric protein intolerance
p.Asn325= Single submitter lysinuric protein intolerance
p.Asn383= Single submitter lysinuric protein intolerance
p.Asn442= Single submitter lysinuric protein intolerance
p.Asn511= Single submitter lysinuric protein intolerance
p.Asp185= Single submitter lysinuric protein intolerance
p.Asp243= Single submitter lysinuric protein intolerance
p.Asp507= Single submitter lysinuric protein intolerance
p.Cys174= Single submitter lysinuric protein intolerance
p.Cys349= Single submitter lysinuric protein intolerance
p.Cys425= Single submitter lysinuric protein intolerance
p.Cys487= Single submitter lysinuric protein intolerance
p.Cys89= Single submitter lysinuric protein intolerance
p.Gln145= Single submitter lysinuric protein intolerance
p.Gln380= Single submitter lysinuric protein intolerance
p.Gln400= Single submitter lysinuric protein intolerance
p.Gln484= Single submitter lysinuric protein intolerance
p.Gln505= Single submitter lysinuric protein intolerance
p.Glu14= Single submitter lysinuric protein intolerance
p.Glu215= Single submitter lysinuric protein intolerance
p.Glu407= Single submitter lysinuric protein intolerance
p.Gly209= Single submitter lysinuric protein intolerance
p.Gly264= Single submitter lysinuric protein intolerance
p.Gly322= Single submitter lysinuric protein intolerance
p.Gly338= Single submitter lysinuric protein intolerance
p.Gly366= Single submitter lysinuric protein intolerance
p.Gly453= Single submitter lysinuric protein intolerance
p.Gly477= Single submitter lysinuric protein intolerance
p.Gly48= Single submitter lysinuric protein intolerance
p.Gly499= Single submitter lysinuric protein intolerance
p.Gly79= Single submitter lysinuric protein intolerance
p.His343= Single submitter lysinuric protein intolerance
p.Ile107= Single submitter lysinuric protein intolerance
p.Ile134= Single submitter lysinuric protein intolerance
p.Ile137= Single submitter lysinuric protein intolerance
p.Ile172= Single submitter lysinuric protein intolerance
p.Ile186= Single submitter lysinuric protein intolerance
p.Ile199= Single submitter lysinuric protein intolerance
p.Ile252= Single submitter lysinuric protein intolerance
p.Ile269= Single submitter lysinuric protein intolerance
p.Ile275= Single submitter lysinuric protein intolerance
p.Ile311Thr Single submitter Inborn genetic diseases
p.Ile312= Single submitter lysinuric protein intolerance
p.Ile328= Single submitter lysinuric protein intolerance
p.Ile371= Single submitter lysinuric protein intolerance
p.Ile378= Single submitter lysinuric protein intolerance
p.Ile422= Single submitter lysinuric protein intolerance
p.Ile429= Single submitter lysinuric protein intolerance
p.Ile441= Single submitter lysinuric protein intolerance
p.Ile445= Single submitter lysinuric protein intolerance
p.Ile447= Single submitter lysinuric protein intolerance
p.Ile460= Single submitter lysinuric protein intolerance
p.Ile461Val Single submitter Inborn genetic diseases
p.Ile51= Single submitter lysinuric protein intolerance
p.Ile55= Single submitter lysinuric protein intolerance
p.Ile64= Single submitter lysinuric protein intolerance
p.Ile97= Single submitter lysinuric protein intolerance
p.Leu115= Single submitter lysinuric protein intolerance
p.Leu160= Single submitter lysinuric protein intolerance
p.Leu161= Single submitter lysinuric protein intolerance
p.Leu168= Single submitter lysinuric protein intolerance
p.Leu193= Single submitter lysinuric protein intolerance
p.Leu195= Single submitter lysinuric protein intolerance
p.Leu206= Single submitter lysinuric protein intolerance
p.Leu236= Single submitter lysinuric protein intolerance
p.Leu245= Single submitter lysinuric protein intolerance
p.Leu259= Single submitter lysinuric protein intolerance
p.Leu261= Single submitter lysinuric protein intolerance
p.Leu276= Single submitter lysinuric protein intolerance
p.Leu314= Single submitter lysinuric protein intolerance
p.Leu344= Single submitter lysinuric protein intolerance
p.Leu362= Single submitter lysinuric protein intolerance
p.Leu363= Single submitter lysinuric protein intolerance
p.Leu370= Single submitter lysinuric protein intolerance
p.Leu39= Single submitter lysinuric protein intolerance
p.Leu401= Single submitter lysinuric protein intolerance
p.Leu403= Single submitter lysinuric protein intolerance
p.Leu414= Single submitter
p.Leu416= Single submitter lysinuric protein intolerance
p.Leu444= Single submitter lysinuric protein intolerance
p.Leu451= Single submitter lysinuric protein intolerance
p.Leu454= Single submitter lysinuric protein intolerance
p.Leu483= Single submitter lysinuric protein intolerance
p.Leu486= Single submitter lysinuric protein intolerance
p.Leu71= Single submitter lysinuric protein intolerance
p.Leu73= Single submitter lysinuric protein intolerance
p.Lys99= Single submitter lysinuric protein intolerance
p.Phe214= Single submitter lysinuric protein intolerance
p.Phe321= Single submitter lysinuric protein intolerance
p.Phe336= Single submitter lysinuric protein intolerance
p.Phe379= Single submitter lysinuric protein intolerance
p.Phe430= Single submitter lysinuric protein intolerance
p.Phe458= Single submitter lysinuric protein intolerance
p.Phe56= Single submitter lysinuric protein intolerance
p.Pro13= Single submitter lysinuric protein intolerance
p.Pro268= Single submitter lysinuric protein intolerance
p.Pro408= Single submitter lysinuric protein intolerance
p.Pro413= Single submitter lysinuric protein intolerance
p.Pro435= Single submitter lysinuric protein intolerance
p.Pro464= Single submitter lysinuric protein intolerance
p.Pro469= Single submitter lysinuric protein intolerance
p.Pro508= Single submitter lysinuric protein intolerance
p.Ser100= Single submitter
p.Ser123= Single submitter lysinuric protein intolerance
p.Ser158= Single submitter lysinuric protein intolerance
p.Ser18= Single submitter lysinuric protein intolerance
p.Ser222= Single submitter lysinuric protein intolerance
p.Ser266= Single submitter lysinuric protein intolerance
p.Ser417= Single submitter lysinuric protein intolerance
p.Ser443= Single submitter lysinuric protein intolerance
p.Ser489= Single submitter lysinuric protein intolerance
p.Ser72= Single submitter lysinuric protein intolerance
p.Ser83= Single submitter lysinuric protein intolerance
p.Ter512= Single submitter lysinuric protein intolerance
p.Thr122= Single submitter lysinuric protein intolerance
p.Thr170= Single submitter lysinuric protein intolerance
p.Thr181= Single submitter lysinuric protein intolerance
p.Thr188= Single submitter lysinuric protein intolerance
p.Thr244= Single submitter lysinuric protein intolerance
p.Thr271= Single submitter lysinuric protein intolerance
p.Thr277= Single submitter lysinuric protein intolerance
p.Thr440= Single submitter lysinuric protein intolerance

Uncertain significance 278

p.Ala105Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala163Ser Multiple submitters lysinuric protein intolerance ⚠
p.Ala197Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala235Val Multiple submitters lysinuric protein intolerance ⚠
p.Ala295Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala450Val Multiple submitters lysinuric protein intolerance
p.Ala91Glu Multiple submitters lysinuric protein intolerance ⚠
p.Arg159His Multiple submitters Inborn genetic diseases ⚠
p.Arg404His Multiple submitters autoinflammatory syndrome ⚠
p.Arg410Gln Multiple submitters lysinuric protein intolerance ⚠
p.Arg412His Multiple submitters lysinuric protein intolerance ⚠
p.Arg468Gln Multiple submitters lysinuric protein intolerance ⚠
p.Arg506Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn141Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn246Ser Multiple submitters lysinuric protein intolerance ⚠
p.Asp185Gly Multiple submitters lysinuric protein intolerance ⚠
p.Asp439Asn Multiple submitters lysinuric protein intolerance ⚠
p.Asp507Gly Multiple submitters lysinuric protein intolerance ⚠
p.Gln484Arg Multiple submitters lysinuric protein intolerance ⚠
p.Glu497Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly112Glu Multiple submitters lysinuric protein intolerance ⚠
p.Gly202Asp Multiple submitters lysinuric protein intolerance ⚠
p.Gly220Arg Multiple submitters lysinuric protein intolerance ⚠
p.Gly306Arg Multiple submitters lysinuric protein intolerance ⚠
p.Gly338Ser Multiple submitters lysinuric protein intolerance ⚠
p.Gly42= Multiple submitters lysinuric protein intolerance
p.Ile118Phe Multiple submitters lysinuric protein intolerance ⚠
p.Ile127Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile166Val Multiple submitters Inborn genetic diseases ⚠
p.Ile199Val Multiple submitters lysinuric protein intolerance ⚠
p.Ile228Thr Multiple submitters lysinuric protein intolerance ⚠
p.Ile252Asn Multiple submitters lysinuric protein intolerance ⚠
p.Ile269Val Multiple submitters lysinuric protein intolerance ⚠
p.Ile397Val Multiple submitters lysinuric protein intolerance ⚠
p.Ile449Val Multiple submitters Inborn genetic diseases ⚠
p.Leu261Phe Multiple submitters lysinuric protein intolerance ⚠
p.Leu318Phe Multiple submitters lysinuric protein intolerance ⚠
p.Leu395His Multiple submitters lysinuric protein intolerance ⚠
p.Leu444Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu472Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu63Phe Multiple submitters lysinuric protein intolerance ⚠
p.Leu81Phe Multiple submitters lysinuric protein intolerance ⚠
p.Leu81Pro Multiple submitters lysinuric protein intolerance ⚠
p.Lys467Met Multiple submitters lysinuric protein intolerance ⚠
p.Lys99Asn Multiple submitters Inborn genetic diseases ⚠
p.Met287Arg Multiple submitters lysinuric protein intolerance ⚠
p.Met368Thr Multiple submitters Inborn genetic diseases
p.Met502Thr Multiple submitters lysinuric protein intolerance ⚠
p.Phe335Ser Multiple submitters lysinuric protein intolerance ⚠
p.Phe379Cys Multiple submitters Inborn genetic diseases ⚠
p.Pro149Leu Multiple submitters lysinuric protein intolerance ⚠
p.Pro154Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro19Thr Multiple submitters lysinuric protein intolerance ⚠
p.Pro408Thr Multiple submitters ⚠
p.Pro469Leu Multiple submitters lysinuric protein intolerance ⚠
p.Pro469Ser Multiple submitters lysinuric protein intolerance ⚠
p.Thr299Ser Multiple submitters lysinuric protein intolerance ⚠
p.Trp310Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp390Cys Multiple submitters Inborn genetic diseases ⚠
p.Trp76Leu Multiple submitters Inborn genetic diseases ⚠
p.Tyr274Cys Multiple submitters lysinuric protein intolerance ⚠
p.Tyr90Cys Multiple submitters Inborn genetic diseases ⚠
p.Val183Ala Multiple submitters Inborn genetic diseases ⚠
p.Val200Ile Multiple submitters lysinuric protein intolerance ⚠
p.Val296Ile Multiple submitters lysinuric protein intolerance ⚠
p.Val375Met Multiple submitters lysinuric protein intolerance ⚠
p.Val43Met Multiple submitters lysinuric protein intolerance
p.Val490Leu Multiple submitters lysinuric protein intolerance
p.Val84Ile Multiple submitters lysinuric protein intolerance ⚠
c.1095+5G>C Single submitter lysinuric protein intolerance
c.1096-21_1096-18del Single submitter
c.1245+6G>A Single submitter lysinuric protein intolerance
c.1430-10C>A Single submitter lysinuric protein intolerance
c.1430-20A>G Single submitter lysinuric protein intolerance
c.1430-8_1430-7del Single submitter lysinuric protein intolerance
c.625+5G>T Single submitter lysinuric protein intolerance
c.626-17A>G Single submitter lysinuric protein intolerance
c.998+4A>G Single submitter lysinuric protein intolerance
c.998+5G>A Single submitter lysinuric protein intolerance
c.999-3_999-2del Single submitter lysinuric protein intolerance
c.-175+7G>C Single submitter lysinuric protein intolerance
c.-263G>A Single submitter lysinuric protein intolerance
c.-43+11G>A Single submitter lysinuric protein intolerance
c.-66C>A Single submitter lysinuric protein intolerance
c.-73G>A Single submitter lysinuric protein intolerance
c.*114C>T Single submitter lysinuric protein intolerance
c.*16C>T Single submitter lysinuric protein intolerance
c.*205A>C Single submitter lysinuric protein intolerance
c.*225G>A Single submitter lysinuric protein intolerance
c.*227G>A Single submitter lysinuric protein intolerance
c.*235G>C Single submitter lysinuric protein intolerance
c.*246G>C Single submitter lysinuric protein intolerance
p.Ala133Pro Single submitter lysinuric protein intolerance ⚠
p.Ala136Gly Single submitter lysinuric protein intolerance ⚠
p.Ala136Thr Single submitter lysinuric protein intolerance ⚠
p.Ala140Pro Single submitter lysinuric protein intolerance ⚠
p.Ala157Pro Single submitter lysinuric protein intolerance ⚠
p.Ala175Gly Single submitter Inborn genetic diseases ⚠
p.Ala194Thr Single submitter lysinuric protein intolerance ⚠
p.Ala197Val Single submitter lysinuric protein intolerance ⚠
p.Ala201Val Single submitter lysinuric protein intolerance ⚠
p.Ala235Gly Single submitter lysinuric protein intolerance
p.Ala479Gly Single submitter lysinuric protein intolerance ⚠
p.Ala479Val Single submitter Inborn genetic diseases ⚠
p.Arg288Thr Single submitter Inborn genetic diseases ⚠
p.Arg355Trp Single submitter lysinuric protein intolerance ⚠
p.Arg404Cys Single submitter lysinuric protein intolerance ⚠
p.Arg412Cys Single submitter Inborn genetic diseases ⚠
p.Arg468Leu Single submitter Inborn genetic diseases
p.Arg481Ser Single submitter lysinuric protein intolerance
p.Asn141Tyr Single submitter lysinuric protein intolerance ⚠
p.Asn254His Single submitter lysinuric protein intolerance ⚠
p.Asn278Ile Single submitter lysinuric protein intolerance ⚠
p.Asn278Ser Single submitter Inborn genetic diseases ⚠
p.Asn325Ser Single submitter lysinuric protein intolerance ⚠
p.Asn365Ser Single submitter lysinuric protein intolerance ⚠
p.Asn511fs Single submitter
p.Asp286Gly Single submitter lysinuric protein intolerance ⚠
p.Asp377Gly Single submitter lysinuric protein intolerance ⚠
p.Asp409His Single submitter lysinuric protein intolerance ⚠
p.Asp439Ala Single submitter Inborn genetic diseases ⚠
p.Asp439Gly Single submitter lysinuric protein intolerance ⚠
p.Asp507Asn Single submitter Inborn genetic diseases ⚠
p.Cys167Ser Single submitter lysinuric protein intolerance ⚠
p.Cys425Arg Single submitter lysinuric protein intolerance ⚠
p.Cys425Gly Single submitter lysinuric protein intolerance ⚠
p.Cys425Tyr Single submitter Inborn genetic diseases ⚠
p.Cys427Tyr Single submitter lysinuric protein intolerance ⚠
p.Cys487Tyr Single submitter lysinuric protein intolerance ⚠
p.Gln145Arg Single submitter lysinuric protein intolerance ⚠
p.Glu109Gln Single submitter lysinuric protein intolerance ⚠
p.Glu14Lys Single submitter lysinuric protein intolerance ⚠
p.Glu219Asp Single submitter Inborn genetic diseases ⚠
p.Glu219Gly Single submitter lysinuric protein intolerance ⚠
p.Glu219Val Single submitter lysinuric protein intolerance ⚠
p.Glu250Lys Single submitter lysinuric protein intolerance ⚠
p.Glu407Lys Single submitter Inborn genetic diseases ⚠
p.Glu501_Met502delinsAspAla Single submitter lysinuric protein intolerance
p.Gly113Arg Single submitter lysinuric protein intolerance
p.Gly202= Single submitter lysinuric protein intolerance
p.Gly207Asp Single submitter Inborn genetic diseases ⚠
p.Gly220Asp Single submitter lysinuric protein intolerance ⚠
p.Gly342Ser Single submitter lysinuric protein intolerance ⚠
p.Gly366Ser Single submitter lysinuric protein intolerance ⚠
p.Gly42Ser Single submitter ⚠
p.Gly446Ser Single submitter lysinuric protein intolerance ⚠
p.Gly52Ser Single submitter lysinuric protein intolerance ⚠
p.Gly61Ser Single submitter lysinuric protein intolerance ⚠
p.Gly70Arg Single submitter lysinuric protein intolerance ⚠
p.Gly79Glu Single submitter Inborn genetic diseases ⚠
p.Gly86Glu Single submitter ⚠
p.His343Tyr Single submitter lysinuric protein intolerance ⚠
p.His352Tyr Single submitter Inborn genetic diseases ⚠
p.Ile269Thr Single submitter lysinuric protein intolerance ⚠
p.Ile304Lys Single submitter lysinuric protein intolerance
p.Ile304Thr Single submitter lysinuric protein intolerance ⚠
p.Ile307Met Single submitter Inborn genetic diseases ⚠
p.Ile351Met Single submitter lysinuric protein intolerance ⚠
p.Ile371Thr Single submitter lysinuric protein intolerance ⚠
p.Ile422Met Single submitter lysinuric protein intolerance ⚠
p.Ile422Ser Single submitter lysinuric protein intolerance ⚠
p.Ile429Thr Single submitter Inborn genetic diseases ⚠
p.Ile441Ser Single submitter lysinuric protein intolerance ⚠
p.Ile445Val Single submitter lysinuric protein intolerance ⚠
p.Ile447Thr Single submitter lysinuric protein intolerance ⚠
p.Ile461del Single submitter lysinuric protein intolerance
p.Ile461dup Single submitter lysinuric protein intolerance
p.Ile475Thr Single submitter lysinuric protein intolerance ⚠
p.Ile64Lys Single submitter lysinuric protein intolerance ⚠
p.Ile64Thr Single submitter lysinuric protein intolerance ⚠
p.Ile75del Single submitter lysinuric protein intolerance
p.Leu120His Single submitter ⚠
p.Leu193Ser Single submitter ⚠
p.Leu232_Tyr233insAlaLeu Single submitter lysinuric protein intolerance
p.Leu261Pro Single submitter lysinuric protein intolerance ⚠
p.Leu285Pro Single submitter lysinuric protein intolerance ⚠
p.Leu318Ser Single submitter lysinuric protein intolerance ⚠
p.Leu344Val Single submitter lysinuric protein intolerance ⚠
p.Leu370Phe Single submitter lysinuric protein intolerance ⚠
p.Leu373Ser Single submitter lysinuric protein intolerance ⚠
p.Leu395Pro Single submitter lysinuric protein intolerance ⚠
p.Leu401Phe Single submitter ⚠
p.Leu403Arg Single submitter lysinuric protein intolerance ⚠
p.Leu40Phe Single submitter lysinuric protein intolerance ⚠
p.Leu431= Single submitter lysinuric protein intolerance
p.Leu436Arg Single submitter lysinuric protein intolerance ⚠
p.Leu486Pro Single submitter lysinuric protein intolerance ⚠
p.Lys191Glu Single submitter lysinuric protein intolerance ⚠
p.Lys415Glu Single submitter lysinuric protein intolerance ⚠
p.Lys467_Pro469delinsMetArgSer Single submitter lysinuric protein intolerance
p.Lys504Met Single submitter Inborn genetic diseases ⚠
p.Lys509Thr Single submitter lysinuric protein intolerance ⚠
p.Lys60Arg Single submitter autoinflammatory syndrome ⚠
p.Met143Thr Single submitter lysinuric protein intolerance ⚠
p.Met287Ile Single submitter lysinuric protein intolerance ⚠
p.Met350Leu Single submitter lysinuric protein intolerance ⚠
p.Met368Lys Single submitter Inborn genetic diseases ⚠
p.Met488Thr Single submitter lysinuric protein intolerance ⚠
p.Met494Thr Single submitter lysinuric protein intolerance ⚠
p.Met50Thr Single submitter lysinuric protein intolerance ⚠
p.Phe111Leu Single submitter lysinuric protein intolerance ⚠
p.Phe117Val Single submitter lysinuric protein intolerance ⚠
p.Phe148_Pro149delinsLeuLeu Single submitter
p.Phe148Leu Single submitter lysinuric protein intolerance ⚠
p.Phe218Ser Single submitter lysinuric protein intolerance ⚠
p.Phe305Ser Single submitter Inborn genetic diseases ⚠
p.Phe335Val Single submitter lysinuric protein intolerance ⚠
p.Phe420= Single submitter lysinuric protein intolerance
p.Phe424Ser Single submitter lysinuric protein intolerance ⚠
p.Phe430Val Single submitter lysinuric protein intolerance ⚠
p.Pro146Leu Single submitter lysinuric protein intolerance ⚠
p.Pro149Gln Single submitter Inborn genetic diseases ⚠
p.Pro154Ala Single submitter lysinuric protein intolerance ⚠
p.Pro255Leu Single submitter lysinuric protein intolerance ⚠
p.Pro260Leu Single submitter lysinuric protein intolerance ⚠
p.Pro260Ser Single submitter lysinuric protein intolerance ⚠
p.Pro268Thr Single submitter SLC7A7-related disorder ⚠
p.Pro345Ala Single submitter Inborn genetic diseases ⚠
p.Pro411Ser Single submitter Inborn genetic diseases ⚠
p.Pro421= Single submitter lysinuric protein intolerance
p.Pro421Gln Single submitter lysinuric protein intolerance ⚠
p.Pro421Leu Single submitter lysinuric protein intolerance ⚠
p.Pro469Arg Single submitter lysinuric protein intolerance ⚠
p.Pro503fs Single submitter lysinuric protein intolerance
p.Ser103Asn Single submitter lysinuric protein intolerance ⚠
p.Ser158Gly Single submitter lysinuric protein intolerance ⚠
p.Ser211Cys Single submitter lysinuric protein intolerance ⚠
p.Ser221Leu Single submitter lysinuric protein intolerance ⚠
p.Ser221Thr Single submitter lysinuric protein intolerance ⚠
p.Ser319Phe Single submitter lysinuric protein intolerance ⚠
p.Ser386Cys Single submitter lysinuric protein intolerance ⚠
p.Ser388= Single submitter
p.Ser66Gly Single submitter lysinuric protein intolerance ⚠
p.Ser83Tyr Single submitter lysinuric protein intolerance ⚠
p.Ter512Gln Single submitter lysinuric protein intolerance
p.Thr181Asn Single submitter lysinuric protein intolerance ⚠
p.Thr249Ile Single submitter lysinuric protein intolerance ⚠
p.Thr428Ala Single submitter lysinuric protein intolerance ⚠
p.Thr428Pro Single submitter lysinuric protein intolerance ⚠
p.Thr480Lys Single submitter Inborn genetic diseases ⚠
p.Thr95Pro Single submitter lysinuric protein intolerance ⚠
p.Thr96Ala Single submitter lysinuric protein intolerance ⚠
p.Trp179Arg Single submitter lysinuric protein intolerance ⚠
p.Trp405Cys Single submitter lysinuric protein intolerance
p.Tyr176Cys Single submitter Inborn genetic diseases ⚠
p.Tyr189Cys Single submitter Inborn genetic diseases ⚠
p.Tyr247Cys Single submitter lysinuric protein intolerance ⚠
p.Tyr281His Single submitter lysinuric protein intolerance ⚠
p.Tyr282His Single submitter lysinuric protein intolerance ⚠
p.Tyr384His Single submitter lysinuric protein intolerance ⚠
p.Tyr384Ser Single submitter lysinuric protein intolerance ⚠
p.Tyr385Cys Single submitter lysinuric protein intolerance ⚠
p.Tyr90Phe Single submitter lysinuric protein intolerance ⚠
p.Tyr90Ser Single submitter SLC7A7-related disorder ⚠
p.Val144Ile Single submitter Inborn genetic diseases ⚠
p.Val144Leu Single submitter lysinuric protein intolerance ⚠
p.Val204Ile Single submitter Inborn genetic diseases ⚠
p.Val353Asp Single submitter Inborn genetic diseases ⚠
p.Val463Glu Single submitter lysinuric protein intolerance
p.Val485Ile Single submitter lysinuric protein intolerance ⚠
c.1430-4G>A No assertion criteria lysinuric protein intolerance
c.626-3C>T No assertion criteria lysinuric protein intolerance
c.895-4T>G No assertion criteria lysinuric protein intolerance
p.Asp289Asn No assertion criteria lysinuric protein intolerance ⚠
p.Cys151Ser No assertion criteria lysinuric protein intolerance ⚠
p.Gly399Ser No assertion criteria ⚠
p.Gly453Asp No assertion criteria lysinuric protein intolerance ⚠
p.Gly80Asp No assertion criteria SLC7A7-related disorder ⚠
p.His352= No assertion criteria lysinuric protein intolerance
p.Ile64Met No assertion criteria lysinuric protein intolerance ⚠
p.Leu115Phe No assertion criteria lysinuric protein intolerance ⚠
p.Leu454Arg No assertion criteria lysinuric protein intolerance ⚠
p.Leu459Ile No assertion criteria lysinuric protein intolerance ⚠
p.Phe379Leu No assertion criteria lysinuric protein intolerance ⚠
p.Pro313Leu No assertion criteria lysinuric protein intolerance ⚠
p.Ser293Gly No assertion criteria lysinuric protein intolerance ⚠
p.Thr170Ala No assertion criteria lysinuric protein intolerance ⚠
p.Thr17Ile No assertion criteria lysinuric protein intolerance ⚠