CASR — 2862 ClinVar variants

Pathogenic 180

• c.186-1G>T Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg185Gln Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg185Ter Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Arg227Leu Multiple submitters neonatal severe primary hyperparathyroidism ⚠
• p.Arg392Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg544Ter Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg648Ter Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Arg680Cys Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Arg886Pro Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg886Trp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys582Tyr Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln117Ter Multiple submitters autosomal dominant hypocalcemia 1
• p.Gln164Ter Multiple submitters autosomal dominant hypocalcemia 1
• p.Gln193Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln459Arg Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu127Ala Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Glu56fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu56Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu604Lys Multiple submitters autosomal dominant hypocalcemia
• p.Glu610Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly143Glu Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly623fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe128Leu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Phe183fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe788Cys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Phe790del Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro221Leu Multiple submitters autosomal dominant hypocalcemia ⚠
• p.Pro55Leu Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser388Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser53Pro Multiple submitters autosomal dominant hypocalcemia 1
• p.Thr151Met Multiple submitters autosomal dominant hypocalcemia ⚠
• p.Trp352Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Trp70Ter Multiple submitters autosomal dominant hypocalcemia 1
• c.1732+1_1732+10delinsTG Single submitter autosomal dominant hypocalcemia 1
• c.1732+1G>C Single submitter familial hypocalciuric hypercalcemia
• c.1732+2T>C Single submitter autosomal dominant hypocalcemia 1
• c.186-1G>A Single submitter familial hypocalciuric hypercalcemia
• c.186-1G>C Single submitter familial hypocalciuric hypercalcemia
• c.186-2A>G Single submitter familial hypocalciuric hypercalcemia
• c.2643_2644insAlu Single submitter autosomal dominant hypocalcemia 1
• p.Ala213fs Single submitter autosomal dominant hypocalcemia 1
• p.Ala321fs Single submitter familial hypocalciuric hypercalcemia
• p.Ala430fs Single submitter autosomal dominant hypocalcemia 1
• p.Ala579fs Single submitter autosomal dominant hypocalcemia 1
• p.Ala645fs Single submitter familial hypocalciuric hypercalcemia
• p.Ala840fs Single submitter familial hypocalciuric hypercalcemia
• p.Ala884fs Single submitter familial hypocalciuric hypercalcemia
• p.Arg220Pro Single submitter autosomal dominant hypocalcemia 1
• p.Arg701fs Single submitter
• p.Arg752fs Single submitter familial hypocalciuric hypercalcemia
• p.Arg795fs Single submitter
• p.Arg96fs Single submitter autosomal dominant hypocalcemia 1
• p.Asn176fs Single submitter familial hypocalciuric hypercalcemia
• p.Asn345fs Single submitter autosomal dominant hypocalcemia 1
• p.Asn700fs Single submitter
• p.Asn802Ile Single submitter
• p.Asn82fs Single submitter familial hypocalciuric hypercalcemia
• p.Asp248Ter Single submitter
• p.Asp587fs Single submitter familial hypocalciuric hypercalcemia
• p.Cys101Ter Single submitter familial hypocalciuric hypercalcemia
• p.Cys661Ter Single submitter familial hypocalciuric hypercalcemia
• p.Cys677fs Single submitter familial hypocalciuric hypercalcemia
• p.Cys7fs Single submitter autosomal dominant hypocalcemia 1
• p.Cys851fs Single submitter autosomal dominant hypocalcemia 1
• p.Gln245Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gln245Ter Single submitter familial hypocalciuric hypercalcemia
• p.Gln24Ter Single submitter autosomal dominant hypocalcemia 1
• p.Gln309fs Single submitter familial hypocalciuric hypercalcemia
• p.Gln326Ter Single submitter Nephrolithiasis/nephrocalcinosis
• p.Gln361Ter Single submitter familial hypocalciuric hypercalcemia
• p.Gln476Ter Single submitter autosomal dominant hypocalcemia 1
• p.Gln735fs Single submitter autosomal dominant hypocalcemia 1
• p.Gln754Ter Single submitter neonatal severe primary hyperparathyroidism
• p.Glu133_Ser137del Single submitter familial hypocalciuric hypercalcemia
• p.Glu191fs Single submitter familial hypocalciuric hypercalcemia
• p.Glu228Gln Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu241fs Single submitter familial hypocalciuric hypercalcemia
• p.Glu241Ter Single submitter autosomal dominant hypocalcemia 1
• p.Glu297_Ser301del Single submitter familial hypocalciuric hypercalcemia
• p.Glu297fs Single submitter autosomal dominant hypocalcemia 1
• p.Glu297Lys Single submitter autosomal dominant hypocalcemia 1
• p.Glu332fs Single submitter autosomal dominant hypocalcemia 1
• p.Glu350Ter Single submitter autosomal dominant hypocalcemia 1
• p.Glu475fs Single submitter autosomal dominant hypocalcemia 1
• p.Glu519fs Single submitter familial hypocalciuric hypercalcemia
• p.Glu567fs Single submitter
• p.Glu572Ter Single submitter Nephrolithiasis/nephrocalcinosis
• p.Glu610fs Single submitter familial hypocalciuric hypercalcemia
• p.Glu767fs Single submitter familial hypocalciuric hypercalcemia
• p.Glu767Gln Single submitter ⚠
• p.Glu799fs Single submitter autosomal dominant hypocalcemia 1
• p.Glu871Ter Single submitter
• p.Gly549Arg Single submitter familial hypocalciuric hypercalcemia
• p.Gly632fs Single submitter autosomal dominant hypocalcemia 1
• p.Gly67fs Single submitter familial hypocalciuric hypercalcemia
• p.Gly778fs Single submitter familial hypocalciuric hypercalcemia
• p.His344_Asn345delinsLeu Single submitter neonatal severe primary hyperparathyroidism
• p.His463fs Single submitter Nephrolithiasis/nephrocalcinosis
• p.His595fs Single submitter familial hypocalciuric hypercalcemia
• p.Ile33fs Single submitter autosomal dominant hypocalcemia 1
• p.Ile503fs Single submitter familial hypocalciuric hypercalcemia
• p.Ile554fs Single submitter
• p.Ile614fs Single submitter familial hypocalciuric hypercalcemia
• p.Ile61fs Single submitter autosomal dominant hypocalcemia 1
• p.Ile635fs Single submitter familial hypocalciuric hypercalcemia
• p.Leu108fs Single submitter
• p.Leu112fs Single submitter autosomal dominant hypocalcemia 1
• p.Leu368Ter Single submitter autosomal dominant hypocalcemia 1
• p.Leu616fs Single submitter autosomal dominant hypocalcemia 1
• p.Leu618fs Single submitter autosomal dominant hypocalcemia 1
• p.Leu658fs Single submitter familial hypocalciuric hypercalcemia
• p.Lys119fs Single submitter autosomal dominant hypocalcemia 1
• p.Lys47Glu Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Lys601fs Single submitter familial hypocalciuric hypercalcemia
• p.Lys717fs Single submitter autosomal dominant hypocalcemia 1
• p.Lys805fs Single submitter familial hypocalciuric hypercalcemia
• p.Met1Arg Single submitter autosomal dominant hypocalcemia 1
• p.Phe38fs Single submitter familial hypocalciuric hypercalcemia
• p.Phe479fs Single submitter familial hypocalciuric hypercalcemia
• p.Phe788Leu Single submitter
• p.Phe968fs Single submitter
• p.Pro221Ser Single submitter autosomal dominant hypocalcemia ⚠
• p.Pro367fs Single submitter familial hypocalciuric hypercalcemia
• p.Pro682fs Single submitter autosomal dominant hypocalcemia 1
• p.Ser1004fs Single submitter
• p.Ser302fs Single submitter
• p.Ser53Ter Single submitter familial hypocalciuric hypercalcemia
• p.Ser591_Asn592insTer Single submitter familial hypocalciuric hypercalcemia
• p.Ser607Ter Single submitter familial hypocalciuric hypercalcemia
• p.Ser845fs Single submitter familial hypocalciuric hypercalcemia
• p.Thr151fs Single submitter familial hypocalciuric hypercalcemia
• p.Thr372fs Single submitter autosomal dominant hypocalcemia 1
• p.Thr560fs Single submitter autosomal dominant hypocalcemia 1
• p.Thr617fs Single submitter
• p.Thr876fs Single submitter autosomal dominant hypocalcemia 1
• p.Trp15fs Single submitter autosomal dominant hypocalcemia 1
• p.Trp208fs Single submitter autosomal dominant hypocalcemia 1
• p.Trp208Ter Single submitter familial hypocalciuric hypercalcemia 1
• p.Trp293Ter Single submitter familial hypocalciuric hypercalcemia
• p.Trp352fs Single submitter familial hypocalciuric hypercalcemia
• p.Trp530Ter Single submitter Hypocalcemia
• p.Trp608Ter Single submitter autosomal dominant hypocalcemia 1
• p.Trp718fs Single submitter
• p.Trp718Ter Single submitter
• p.Trp719Ter Single submitter familial hypocalciuric hypercalcemia
• p.Trp742Ter Single submitter familial hypocalciuric hypercalcemia
• p.Tyr20Ter Single submitter familial hypocalciuric hypercalcemia
• p.Tyr218Asp Single submitter
• p.Tyr218Ser Single submitter familial hypocalciuric hypercalcemia 1
• p.Tyr246fs Single submitter familial hypocalciuric hypercalcemia
• p.Tyr511Ter Single submitter familial hypocalciuric hypercalcemia
• p.Tyr514Ter Single submitter autosomal dominant hypocalcemia 1
• p.Tyr63Ter Single submitter autosomal dominant hypocalcemia 1
• p.Tyr744Ter Single submitter familial hypocalciuric hypercalcemia
• p.Tyr829Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val258fs Single submitter autosomal dominant hypocalcemia 1
• p.Val370fs Single submitter autosomal dominant hypocalcemia 1
• c.2628_2629insAlu No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Arg62Met No assertion criteria familial hypocalciuric hypercalcemia 1 ⚠
• p.Asn189fs No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Asp570fs No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Cys582Phe No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Gln681His No assertion criteria autosomal dominant hypocalcemia 1 ⚠
• p.Glu671fs No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Gly571Trp No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Gly670Glu No assertion criteria neonatal severe primary hyperparathyroidism
• p.Gly94Ter No assertion criteria neonatal severe primary hyperparathyroidism
• p.His766fs No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Leu616Val No assertion criteria autosomal dominant hypocalcemia 1 ⚠
• p.Leu727Gln No assertion criteria autosomal dominant hypocalcemia 1
• p.Leu773Arg No assertion criteria autosomal dominant hypocalcemia 1
• p.Lys29Glu No assertion criteria Bartter syndrome with hypocalcemia ⚠
• p.Lys47Asn No assertion criteria autosomal dominant hypocalcemia 1 ⚠
• p.Phe180Cys No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Pro39Ala No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Pro748fs No assertion criteria neonatal severe primary hyperparathyroidism
• p.Ser810Asn No assertion criteria autosomal dominant hypocalcemia 1
• p.Ser820Phe No assertion criteria autosomal dominant hypocalcemia 1
• p.Ser895_Val1075del No assertion criteria autosomal dominant hypocalcemia 1
• p.Tyr167Ter No assertion criteria familial hypocalciuric hypercalcemia 1

Pathogenic/Likely pathogenic 41

• c.1378_1379insAGCAAAGG Multiple submitters autosomal dominant hypocalcemia 1
• c.1732+1G>T Multiple submitters
• p.Ala835Asp Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg172Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg185fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg220Gln Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg220Trp Multiple submitters neonatal severe primary hyperparathyroidism
• p.Arg227Gln Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg227Ter Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg25Ter Multiple submitters CASR-related calcium metabolism disorders
• p.Arg465Gln Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg66Cys Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Arg66His Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg680His Multiple submitters CASR-related disorder
• p.Arg69His Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg795Trp Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn178Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn802Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp217Tyr Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu127Lys Multiple submitters neonatal severe primary hyperparathyroidism ⚠
• p.Glu671Ter Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu767Lys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly143Arg Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly509Arg Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly670Arg Multiple submitters autosomal dominant hypocalcemia
• p.Ile223fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile555Thr Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu125Pro Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Leu173Pro Multiple submitters
• p.Met1Thr Multiple submitters familial hypocalciuric hypercalcemia
• p.Met1Val Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe815del Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe832Ser Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro798Leu Multiple submitters autosomal dominant hypocalcemia 1
• p.Thr138Met Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Trp675Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Trp818Ter Multiple submitters familial hypocalciuric hypercalcemia
• p.Tyr218Cys Multiple submitters familial hypocalciuric hypercalcemia
• p.Val689Met Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 8
• p.Val728Phe Multiple submitters familial hypocalciuric hypercalcemia
• p.Val817Ile Multiple submitters autosomal dominant hypocalcemia 1 ⚠

Likely pathogenic 94

• c.1378-1G>C Multiple submitters autosomal dominant hypocalcemia 1
• c.1608+1G>A Multiple submitters familial hypocalciuric hypercalcemia
• c.1609-2A>G Multiple submitters familial hypocalciuric hypercalcemia 1
• c.493-2A>C Multiple submitters familial hypocalciuric hypercalcemia
• p.Ala581Val Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Asn64Asp Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Asp190Gly Multiple submitters familial hypocalciuric hypercalcemia
• p.Cys395Arg Multiple submitters familial hypocalciuric hypercalcemia
• p.Cys582Ser Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu127Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly553Arg Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Gly613Glu Multiple submitters familial hypocalciuric hypercalcemia
• p.Met811Val Multiple submitters autosomal dominant hypocalcemia
• p.Pro748Gln Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser147Leu Multiple submitters Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
• c.1377+1G>A Single submitter familial hypocalciuric hypercalcemia
• c.1377+1G>T Single submitter familial hypocalciuric hypercalcemia
• c.1377+2T>A Single submitter familial hypocalciuric hypercalcemia
• c.1608+2T>C Single submitter autosomal dominant hypocalcemia 1
• c.1733-21_1734del Single submitter autosomal dominant hypocalcemia 1
• c.1733-2A>C Single submitter CASR-related disorder
• c.185+1G>A Single submitter autosomal dominant hypocalcemia 1
• c.492+2T>C Single submitter autosomal dominant hypocalcemia 1
• c.493-1G>A Single submitter autosomal dominant hypocalcemia 1
• c.493-2A>G Single submitter autosomal dominant hypocalcemia 1
• p.Ala140Val Single submitter
• p.Ala168Val Single submitter familial hypocalciuric hypercalcemia 1
• p.Ala645Asp Single submitter familial hypoparathyroidism
• p.Ala843Glu Single submitter autosomal dominant hypocalcemia 1
• p.Ala844Val Single submitter Inborn genetic diseases
• p.Arg205fs Single submitter familial hypocalciuric hypercalcemia 1
• p.Arg227Gly Single submitter ⚠
• p.Arg551Gly Single submitter
• p.Arg551Lys Single submitter autosomal dominant hypocalcemia 1
• p.Arg69Ser Single submitter neonatal severe primary hyperparathyroidism
• p.Asn118Lys Single submitter CASR-related disorder ⚠
• p.Asn468fs Single submitter familial hypocalciuric hypercalcemia
• p.Asn639fs Single submitter
• p.Asn802His Single submitter ⚠
• p.Asp215His Single submitter familial hypocalciuric hypercalcemia
• p.Asp275fs Single submitter
• p.Asp31fs Single submitter familial hypocalciuric hypercalcemia
• p.Cys562Phe Single submitter familial hypocalciuric hypercalcemia
• p.Cys731_Ile736del Single submitter
• p.Cys765fs Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
• p.Cys787Phe Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
• p.Cys787Tyr Single submitter familial hypocalciuric hypercalcemia 1
• p.Gln309Ter Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
• p.Gln681Arg Single submitter ⚠
• p.Glu133Val Single submitter CASR-related disorder ⚠
• p.Glu191Lys Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Glu224Ter Single submitter
• p.Glu558fs Single submitter familial hypocalciuric hypercalcemia 1
• p.Gly557Glu Single submitter autosomal dominant hypocalcemia 1
• p.Ile839Asn Single submitter autosomal dominant hypocalcemia 1
• p.Ile839Thr Single submitter neurodevelopmental disorder
• p.Leu112Arg Single submitter Nephrolithiasis/nephrocalcinosis
• p.Leu173Phe Single submitter CASR-related disorder ⚠
• p.Leu37fs Single submitter familial hypocalciuric hypercalcemia
• p.Leu704fs Single submitter familial hypocalciuric hypercalcemia 1
• p.Leu812Pro Single submitter familial hypocalciuric hypercalcemia
• p.Lys119Arg Single submitter familial hypoparathyroidism ⚠
• p.Lys584Ter Single submitter
• p.Lys882Ter Single submitter familial hypocalciuric hypercalcemia
• p.Met1Ile Single submitter familial hypocalciuric hypercalcemia 1
• p.Met1Leu Single submitter Nephrolithiasis/nephrocalcinosis
• p.Phe505fs Single submitter familial hypocalciuric hypercalcemia
• p.Phe522fs Single submitter
• p.Phe612Ser Single submitter Nephrolithiasis/nephrocalcinosis
• p.Phe629fs Single submitter familial hypocalciuric hypercalcemia
• p.Phe667fs Single submitter
• p.Phe881Leu Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro559His Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro748His Single submitter familial hypocalciuric hypercalcemia
• p.Ser132Ter Single submitter familial hypocalciuric hypercalcemia 1
• p.Ser296Asn Single submitter
• p.Ser657Tyr Single submitter
• p.Ser749fs Single submitter CASR-related disorder
• p.Thr828Pro Single submitter familial hypocalciuric hypercalcemia 1
• p.Trp299Ter Single submitter neonatal severe primary hyperparathyroidism
• p.Trp352Gly Single submitter
• p.Trp742Arg Single submitter
• p.Tyr95Cys Single submitter autosomal dominant hypocalcemia 1
• p.Val697Met Single submitter CASR-related disorder ⚠
• p.Asn722fs No assertion criteria
• p.Glu456Ter No assertion criteria CASR-related disorder
• p.Gly971Val No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Ile554Thr No assertion criteria autosomal dominant hypocalcemia 1 ⚠
• p.Leu174Arg No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Leu812Arg No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Leu842Pro No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Lys636Ter No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Tyr489His No assertion criteria familial hypocalciuric hypercalcemia 1
• p.Val705del No assertion criteria familial hypocalciuric hypercalcemia 1

Conflicting classifications of pathogenicity 191

• c.1609-11C>G Single submitter familial hypocalciuric hypercalcemia
• c.1609-27C>T Single submitter familial hypocalciuric hypercalcemia
• c.1732+10C>T Single submitter autosomal dominant hypocalcemia 1
• c.1732+20G>T Single submitter familial hypocalciuric hypercalcemia
• c.1733-9A>G Single submitter familial hypocalciuric hypercalcemia
• c.492+5T>A Single submitter familial hypocalciuric hypercalcemia
• c.493-19T>G Single submitter autosomal dominant hypocalcemia 1
• c.-10C>T Single submitter familial hypocalciuric hypercalcemia 1
• c.-111C>A Single submitter neonatal severe primary hyperparathyroidism
• c.-154T>A Single submitter familial hypocalciuric hypercalcemia 1
• p.Ala116Thr Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala152Val Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ala19= Single submitter autosomal dominant hypocalcemia 1
• p.Ala2= Single submitter autosomal dominant hypocalcemia 1
• p.Ala213Val Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ala295= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Ala298Val Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ala364Glu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala430Thr Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ala457Val Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ala615Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ala746Val Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ala850Glu Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ala880Ser Single submitter neonatal severe primary hyperparathyroidism ⚠
• p.Arg1009Ter Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Arg1041Trp Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg185Leu Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg205Cys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg25Gln Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg285Gln Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg285Trp Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg286His Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg340Lys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg465Trp Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg544Gln Single submitter hereditary neoplastic syndrome ⚠
• p.Arg638His Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Arg638Leu Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg648Leu Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg716His Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg752Cys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg752His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg891His Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Arg896fs Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Arg896His Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Asn1074Asp Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Asn124Lys Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Asn176Ser Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Asn400Ile Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Asn419Ser Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Asn493Ser Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Asn541Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn893Asp Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn985= Single submitter neonatal severe primary hyperparathyroidism
• p.Asp1005Asn Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp121Glu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp126Val Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Asp382Asn Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp398Asn Single submitter hereditary neoplastic syndrome ⚠
• p.Asp398Gly Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Asp433His Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Cys1018= Single submitter neonatal severe primary hyperparathyroidism
• p.Cys129Tyr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Cys236Phe Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Cys358= Single submitter autosomal dominant hypocalcemia 1
• p.Cys561Tyr Single submitter neonatal severe primary hyperparathyroidism ⚠
• p.Cys562= Single submitter familial hypocalciuric hypercalcemia
• p.Cys562Ser Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Cys565Phe Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Cys585Tyr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Cys765Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gln1040His Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Gln253Lys Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gln260Arg Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Gln735Lys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Gln926Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gln926Ter Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gln943= Single submitter autosomal dominant hypocalcemia 1
• p.Gln946dup Single submitter Nephrolithiasis/nephrocalcinosis
• p.Gln957Arg Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Gln983Arg Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu241Lys Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Glu250Lys Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Glu282Asp Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu282Gly Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu353Ala Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu378Lys Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu525Lys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu558Gly Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Glu755Asp Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
• p.Glu999Ala Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly1019Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gly1031Ser Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Gly21Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly222Arg Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Gly290= Single submitter autosomal dominant hypocalcemia 1
• p.Gly325Glu Single submitter hypercalcemia disease ⚠
• p.Gly36Arg Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly397Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Gly768Val Single submitter CASR-related disorder ⚠
• p.Gly830Asp Single submitter ⚠
• p.His429= Single submitter familial hypocalciuric hypercalcemia
• p.His463Gln Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ile235= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Ile259Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile283Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile33Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile554Asn Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile555= Single submitter autosomal dominant hypocalcemia 1
• p.Ile555Val Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile614Phe Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ile686Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile760Phe Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile786Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile78Val Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile813Val Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile816Val Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile81Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile857Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ile967= Single submitter autosomal dominant hypocalcemia 1
• p.Leu1014Ile Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Leu1014Phe Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Leu11Ser Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Leu242Pro Single submitter CASR-related disorder ⚠
• p.Leu34Pro Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Leu679Arg Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Leu704Pro Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Leu87Pro Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
• p.Lys1002Gln Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Lys291Asn Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Lys336Asn Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Lys584= Single submitter familial hypocalciuric hypercalcemia
• p.Met307Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Met74Leu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Phe38= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Phe634Ser Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Phe688= Single submitter hereditary neoplastic syndrome
• p.Phe862Ser Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Phe924fs Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Pro1035Ser Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro163Arg Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Pro559Thr Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Pro641= Single submitter neonatal severe primary hyperparathyroidism
• p.Pro672Thr Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro682Leu Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro748Arg Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Pro748Leu Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Pro923Ala Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Pro935Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 8 ⚠
• p.Ser1003Asn Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ser1078= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Ser166Gly Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
• p.Ser171Arg Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Ser247Phe Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ser296= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Ser385Asn Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ser388Leu Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ser388Trp Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Ser417Cys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Ser580_Ala581del Single submitter familial hypocalciuric hypercalcemia
• p.Ser651Pro Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Thr1006Ala Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Thr103Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Thr14Ala Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Thr289Ala Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Thr396= Single submitter familial hypocalciuric hypercalcemia
• p.Thr609Met Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Thr676Arg Single submitter familial hypocalciuric hypercalcemia 1 ⚠
• p.Thr972Met Single submitter neonatal severe primary hyperparathyroidism ⚠
• p.Thr974Ile Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Tyr161Cys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Tyr20= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Tyr218His Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Tyr310= Single submitter autosomal dominant hypocalcemia 1
• p.Tyr489Cys Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Tyr514Cys Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Val1027Ile Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Val1044= Single submitter autosomal dominant hypocalcemia 1
• p.Val1056= Single submitter familial hypocalciuric hypercalcemia 1
• p.Val1075Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val1075Leu Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Val149Ile Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Val165Gly Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val337= Single submitter Nephrolithiasis/nephrocalcinosis
• p.Val370= Single submitter familial hypocalciuric hypercalcemia
• p.Val370Met Single submitter familial hypocalciuric hypercalcemia ⚠
• p.Val504Met Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val621Met Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val702Ile Single submitter neonatal severe primary hyperparathyroidism ⚠
• p.Val737Ile Single submitter Nephrolithiasis/nephrocalcinosis ⚠
• p.Val836Leu Single submitter autosomal dominant hypocalcemia 1 ⚠
• p.Val894Leu Single submitter autosomal dominant hypocalcemia 1 ⚠

Benign 16

• c.1608+52G>A Multiple submitters
• c.1609-89C>T Multiple submitters autosomal dominant hypocalcemia 1
• c.1732+16T>C Multiple submitters familial hypocalciuric hypercalcemia
• c.492+19G>A Multiple submitters familial hypocalciuric hypercalcemia
• c.493-91C>T Multiple submitters
• c.*1015A>G Multiple submitters neonatal severe primary hyperparathyroidism
• c.*1093C>T Multiple submitters neonatal severe primary hyperparathyroidism
• c.*1198T>C Multiple submitters autosomal dominant hypocalcemia 1
• c.*1235A>G Multiple submitters familial hypocalciuric hypercalcemia 1
• c.*574C>G Multiple submitters neonatal severe primary hyperparathyroidism
• c.*60A>T Multiple submitters neonatal severe primary hyperparathyroidism
• p.Asn592Ser Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu1011= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu1011Gln Multiple submitters familial hypocalciuric hypercalcemia
• c.493-133_493-132del Single submitter
• c.493-133T>C Single submitter

Benign/Likely benign 15

• c.1732+17T>G Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg990Gly Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln179= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu191= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu870= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu942Lys Multiple submitters autosomal dominant hypocalcemia 1
• p.His429Tyr Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile305= Multiple submitters autosomal dominant hypocalcemia 1
• p.Lys796= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro55= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser182= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser970= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Thr445Ala Multiple submitters familial hypocalciuric hypercalcemia
• p.Val9= Multiple submitters Nephrolithiasis/nephrocalcinosis
• c.*87C>T Single submitter neonatal severe primary hyperparathyroidism

Likely benign 769

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

• c.1377+15T>G Multiple submitters autosomal dominant hypocalcemia 1
• c.1377+17T>C Multiple submitters familial hypocalciuric hypercalcemia 1
• c.493-12G>T Multiple submitters familial hypocalciuric hypercalcemia 1
• p.Ala1000= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala107= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala140= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala152= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ala26= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala298= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala300= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala348= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ala364= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala390= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala515= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala620= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ala628= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala645= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala785= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala884= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ala988= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg172= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg185= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg220= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg227= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg233= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg25= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Arg285= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg465= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg520= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg551= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg638= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg678= Multiple submitters autosomal dominant hypocalcemia 1
• p.Arg716= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg886= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg96= Multiple submitters familial hypocalciuric hypercalcemia
• p.Arg990= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asn102= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn118= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn176= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn189= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn207= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn261= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn446= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn472= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn493= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asn512= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn524= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asn594= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn64= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn700= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn802= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asn855= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn893= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asn90= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asn991= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asp1024= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asp1046= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asp199= Multiple submitters familial hypocalciuric hypercalcemia
• p.Asp216= Multiple submitters autosomal dominant hypocalcemia 1
• p.Asp275= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asp371= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asp433= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asp484= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Asp588= Multiple submitters autosomal dominant hypocalcemia 1
• p.Cys542= Multiple submitters familial hypocalciuric hypercalcemia
• p.Cys546= Multiple submitters familial hypocalciuric hypercalcemia
• p.Cys694= Multiple submitters autosomal dominant hypocalcemia 1
• p.Cys731= Multiple submitters autosomal dominant hypocalcemia 1
• p.Cys765= Multiple submitters familial hypocalciuric hypercalcemia
• p.Cys787= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gln193= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln245= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln253= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln260= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln27= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gln326= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln476= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln49= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln754= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln932= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln934= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln940= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln946= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln952= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln958= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln983= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu1043= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu1045= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu127= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu228= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu231= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu277= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Glu282= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu350= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu354= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu475= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Glu481= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu519= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu525= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu556= Multiple submitters autosomal dominant hypocalcemia 1
• p.Glu572= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu59= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu602= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu767= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu79= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu837= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu871= Multiple submitters familial hypocalciuric hypercalcemia
• p.Glu921= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly1031= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly1067= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly1068= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly210= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly222= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly273= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly30= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly315= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly319= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly325= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly381= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly397= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gly440= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly483= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly501= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly509= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly518= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly532= Multiple submitters autosomal dominant hypocalcemia 1
• p.Gly571= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly613= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly67= Multiple submitters hereditary neoplastic syndrome
• p.Gly720= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly778= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly830= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly904= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gly94= Multiple submitters familial hypocalciuric hypercalcemia
• p.His134= Multiple submitters autosomal dominant hypocalcemia 1
• p.His254= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.His312= Multiple submitters familial hypocalciuric hypercalcemia
• p.His338= Multiple submitters familial hypocalciuric hypercalcemia
• p.His377= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.His41= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.His463= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.His466= Multiple submitters familial hypocalciuric hypercalcemia
• p.His715= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.His766= Multiple submitters familial hypocalciuric hypercalcemia
• p.His879= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile162= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile201= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile237= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile243= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile252= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile267= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile280= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile292= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile32= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile33= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile427= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile492= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile503= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile603= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile614= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile669= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile686= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile710= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile760= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile777= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile786= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ile807= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile813= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile852= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ile857= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ile914= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu1023= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu1025= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu1032= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu1050= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu108= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu11= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu125= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu173= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu276= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu322= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu360= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu37= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu461= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu485= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu51= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu521= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu547= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu616= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu618= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu626= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu631= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu653= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu654= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu655= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu658= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu666= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu690= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu704= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu721= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu723= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu727= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu743= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu756= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu773= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu797= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu842= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu849= Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu91= Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu936= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu948= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Leu998= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys181= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys225= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys323= Multiple submitters familial hypocalciuric hypercalcemia
• p.Lys462= Multiple submitters autosomal dominant hypocalcemia 1
• p.Lys517= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys52= Multiple submitters familial hypocalciuric hypercalcemia
• p.Lys636= Multiple submitters autosomal dominant hypocalcemia 1
• p.Lys644= Multiple submitters autosomal dominant hypocalcemia 1
• p.Lys709= Multiple submitters autosomal dominant hypocalcemia 1
• p.Lys717= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys805= Multiple submitters familial hypocalciuric hypercalcemia
• p.Lys863= Multiple submitters familial hypocalciuric hypercalcemia
• p.Lys882= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Lys965= Multiple submitters familial hypocalciuric hypercalcemia
• p.Lys984= Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe183= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Phe239= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe320= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe391= Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe479= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe522= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe589= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Phe629= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe68= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Phe706= Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe714= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Phe729= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe792= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Phe806= Multiple submitters autosomal dominant hypocalcemia 1
• p.Phe814= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe832= Multiple submitters familial hypocalciuric hypercalcemia
• p.Phe968= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro1012= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro1015= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro1052= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro136= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro22= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro221= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro278= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro339= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro39= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro393= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro439= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro559= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro586= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro672= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro682= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro747= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro798= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro864= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro910= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro923= Multiple submitters autosomal dominant hypocalcemia 1
• p.Pro927= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Pro935= Multiple submitters familial hypocalciuric hypercalcemia
• p.Pro951= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser1004= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser1061= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser1065Gly Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser132= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser147= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser150= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser18= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser240= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser244= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser271= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser301= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser303= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser385= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser388= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser403= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser426= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser502= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser53= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser713= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser794= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser820= Multiple submitters autosomal dominant hypocalcemia 1
• p.Ser913= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser920= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Ser976= Multiple submitters familial hypocalciuric hypercalcemia
• p.Ser978= Multiple submitters autosomal dominant hypocalcemia 1
• p.Thr100= Multiple submitters familial hypocalciuric hypercalcemia
• p.Thr1006= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Thr1021= Multiple submitters familial hypocalciuric hypercalcemia
• p.Thr103= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Thr1030= Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Thr1072= Multiple submitters autosomal dominant hypocalcemia 1
• p.Thr111= Multiple submitters autosomal dominant hypocalcemia 1
• p.Thr138= Multiple submitters familial hypocalciuric hypercalcemia

Uncertain significance 1556

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

• c.1377+3G>A Multiple submitters autosomal dominant hypocalcemia 1
• c.1377+4C>T Multiple submitters familial hypocalciuric hypercalcemia
• c.1608+4G>T Multiple submitters autosomal dominant hypocalcemia 1
• c.1608+5del Multiple submitters autosomal dominant hypocalcemia 1
• c.1608+5G>A Multiple submitters autosomal dominant hypocalcemia 1
• c.185+5G>C Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala1000Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala107Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala110Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala168Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala194Leu Multiple submitters familial hypocalciuric hypercalcemia
• p.Ala196Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala298Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala306Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala306Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala324Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala324Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala390Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala390Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala423del Multiple submitters autosomal dominant hypocalcemia 1
• p.Ala423Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala428Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala430Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala45Glu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala548Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala600Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala615Pro Multiple submitters CASR-related disorder ⚠
• p.Ala683Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala708Thr Multiple submitters idiopathic generalized epilepsy ⚠
• p.Ala746Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala772Thr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala772Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala804Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala824Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala824Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala826Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ala835Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala840Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala843Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala850Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala850Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ala880Pro Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ala880Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg1009Gln Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg1009Gly Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg205Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg205His Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg205Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg205Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg25Leu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg286Cys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg331Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg331Trp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg375Lys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg383Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg392Gln Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg415Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg441Lys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg638Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg648Gln Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg66Leu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg678Cys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg678His Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg69Cys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg701Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg701His Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg701Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg716Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg752Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg866Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg866His Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg866Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg873Cys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg886Gln Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg886Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg890His Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg891Cys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Arg896Cys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Arg898Gln Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Arg898Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Arg961Gly Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn189Ser Multiple submitters hypercalcemia disease ⚠
• p.Asn261Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn345Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn446Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asn471Ile Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn488Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn493Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn512Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn524Lys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn592Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn700Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 8 ⚠
• p.Asn722Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asn753Ser Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asn802Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asn855His Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asn855Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asn90Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp1022Asn Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp1046Glu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asp217Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asp217Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asp238Asn Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp23Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asp371Asn Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp382Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp382Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp398Tyr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp398Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp500Asn Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Asp500Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp50Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp578Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Asp674Glu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Asp758Asn Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Asp980Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys1018Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys1018Gly Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Cys236Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys437Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys482Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys482Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys546Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys546Tyr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys562Tyr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys565Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys60Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys6Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys739Ser Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Cys739Tyr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Cys7Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Cys962Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln1001Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln1017Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln1028Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln1040Glu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 8 ⚠
• p.Gln179Arg Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gln24Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gln309Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gln459= Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln49Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln754Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln932Glu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gln934del Multiple submitters Nephrolithiasis/nephrocalcinosis
• p.Gln940Pro Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gln941Glu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gln946del Multiple submitters familial hypocalciuric hypercalcemia
• p.Gln953Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gln957His Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gln995His Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu1020Gln Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu1029Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu1045Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu1049Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu202Lys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu250Gly Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Glu251Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu251Gly Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu282Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu297Gln Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu362Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu379Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu405Lys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu456Gly Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu475Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu475Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu499Ala Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu499Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu499Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu526Lys Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu556Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu556Lys Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu59Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu59Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu671Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu759Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu799Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu79Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu79Gln Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Glu80Ala Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu870Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu921Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu928Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Glu981Gly Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Glu981Lys Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly1031Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly1038Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly1066Asp Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly1066Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly1067Glu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly148Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly148Ser Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly158Arg Multiple submitters ⚠
• p.Gly30Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly315Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly316Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly35Ala Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly35Trp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly363Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly363Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly36Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly376Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly376Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly43Arg Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Gly440Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly440Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly447Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly487Glu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Gly518Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly518Glu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly553Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly623Asp Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly632Ser Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly685Asp Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly685Ser Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly774Ser Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly778Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Gly847Asp Multiple submitters hypercalcemia disease ⚠
• p.Gly903Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Gly94Glu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.His1010Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.His312Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His338Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His359Arg Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.His359Leu Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.His359Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His413Leu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His429Arg Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His429Gln Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.His466Tyr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.His715Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.His715Tyr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His766Asn Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.His879Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.His994Tyr Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile139Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile187Asn Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile187Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile252Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile409Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile40Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile434Met Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile434Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile452Phe Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile452Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile503Val Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Ile523Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile554Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile614Met Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile614Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile669Val Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile738Thr Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile75Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile763Leu Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Ile777Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile78Thr Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile816Met Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile857Asn Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Ile914Asn Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Ile967_Val973del Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu1007Gln Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu10Ile Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu10Phe Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Leu123Met Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu156Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu157Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu159Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Leu174Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu184Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu279Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu360Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu37Phe Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Leu422Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu443Ile Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu443Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu461Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu464Val Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Leu496Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu51Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu547Met Multiple submitters Nephrolithiasis/nephrocalcinosis ⚠
• p.Leu606Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu618Arg Multiple submitters familial hypocalciuric hypercalcemia 1 ⚠
• p.Leu618Phe Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu631Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu650Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu650Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu653Phe Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu655del Multiple submitters autosomal dominant hypocalcemia 1
• p.Leu655Val Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu658Met Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu666Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu679Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu696Pro Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu703Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Leu721Phe Multiple submitters neonatal severe primary hyperparathyroidism ⚠
• p.Leu849Gln Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Leu889fs Multiple submitters familial hypocalciuric hypercalcemia
• p.Leu948Pro Multiple submitters autosomal dominant hypocalcemia 1 ⚠
• p.Lys1002Glu Multiple submitters familial hypocalciuric hypercalcemia ⚠
• p.Lys29Arg Multiple submitters neonatal severe primary hyperparathyroidism ⚠