KANK2 — 544 ClinVar variants
All ClinVar germline KANK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 41 Benign · 24 Benign/Likely benign · 169 Likely benign · 299 Uncertain significance
Full KANK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 277
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- KANK2 p.Ala182Thr Conflicting Single submitter
- KANK2 p.Ala286Thr Conflicting Single submitter
- KANK2 p.Ala393Thr Conflicting Single submitter
- KANK2 p.Arg337Gln Conflicting Single submitter
-
KANK2 p.Arg380Cys
Conflicting
Single submitter
nephrotic syndrome 16
- KANK2 p.Arg446Gln Conflicting Single submitter
- KANK2 p.Gly507Arg Conflicting Single submitter
- KANK2 p.Ser217Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 216
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 216
- KANK2 p.Ala182Val Uncertain significance Multiple submitters
- KANK2 p.Ala317Val Uncertain significance Multiple submitters
- KANK2 p.Ala347Thr Uncertain significance Multiple submitters
- KANK2 p.Ala351Thr Uncertain significance Multiple submitters
- KANK2 p.Ala393Gly Uncertain significance Multiple submitters
- KANK2 p.Ala653Val Uncertain significance Multiple submitters
- KANK2 p.Arg105His Uncertain significance Multiple submitters
- KANK2 p.Arg117His Uncertain significance Multiple submitters
- KANK2 p.Arg123Gln Uncertain significance Multiple submitters
- KANK2 p.Arg126His Uncertain significance Multiple submitters
- KANK2 p.Arg309Trp Uncertain significance Multiple submitters
-
KANK2 p.Arg326His
Uncertain significance
Multiple submitters
nephrotic syndrome 16
- KANK2 p.Arg326Leu Uncertain significance Multiple submitters
- KANK2 p.Arg380His Uncertain significance Multiple submitters
- KANK2 p.Arg485Gln Uncertain significance Multiple submitters
- KANK2 p.Arg566Gly Uncertain significance Multiple submitters
- KANK2 p.Arg643Gln Uncertain significance Multiple submitters
- KANK2 p.Arg699Cys Uncertain significance Multiple submitters
- KANK2 p.Arg699His Uncertain significance Multiple submitters
- KANK2 p.Arg69His Uncertain significance Multiple submitters
- KANK2 p.Arg828His Uncertain significance Multiple submitters
- KANK2 p.Asn609Ser Uncertain significance Multiple submitters
- KANK2 p.Asp29Asn Uncertain significance Multiple submitters
- KANK2 p.Asp525Asn Uncertain significance Multiple submitters
- KANK2 p.Gln307Arg Uncertain significance Multiple submitters
- KANK2 p.Glu467Lys Uncertain significance Multiple submitters
- KANK2 p.Gly173Glu Uncertain significance Multiple submitters
- KANK2 p.Gly361Ser Uncertain significance Multiple submitters
- KANK2 p.Gly445Asp Uncertain significance Multiple submitters
- KANK2 p.Gly750Arg Uncertain significance Multiple submitters
- KANK2 p.His637Gln Uncertain significance Multiple submitters
- KANK2 p.Pro166Ala Uncertain significance Multiple submitters
- KANK2 p.Pro259Gln Uncertain significance Multiple submitters
- KANK2 p.Pro30Ser Uncertain significance Multiple submitters
- KANK2 p.Pro321Ser Uncertain significance Multiple submitters
- KANK2 p.Pro324Leu Uncertain significance Multiple submitters
- KANK2 p.Pro359His Uncertain significance Multiple submitters
- KANK2 p.Pro373Arg Uncertain significance Multiple submitters
-
KANK2 p.Pro457Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 16
- KANK2 p.Pro539Leu Uncertain significance Multiple submitters
- KANK2 p.Ser147Phe Uncertain significance Multiple submitters
- KANK2 p.Ser181Asn Uncertain significance Multiple submitters
- KANK2 p.Ser428Leu Uncertain significance Multiple submitters
- KANK2 p.Ser443Ile Uncertain significance Multiple submitters
-
KANK2 p.Ser848Leu
Uncertain significance
Multiple submitters
nephrotic syndrome 16
- KANK2 p.Thr14Ile Uncertain significance Multiple submitters
- KANK2 p.Thr362Pro Uncertain significance Multiple submitters
- KANK2 p.Thr552Met Uncertain significance Multiple submitters
-
KANK2 p.Val502Met
Uncertain significance
Multiple submitters
nephrotic syndrome 16
- KANK2 p.Ala113Gly Uncertain significance Single submitter
- KANK2 p.Ala139Glu Uncertain significance Single submitter
- KANK2 p.Ala139Val Uncertain significance Single submitter
- KANK2 p.Ala193Val Uncertain significance Single submitter
- KANK2 p.Ala241Glu Uncertain significance Single submitter
- KANK2 p.Ala241Val Uncertain significance Single submitter
- KANK2 p.Ala290Ser Uncertain significance Single submitter
- KANK2 p.Ala299Val Uncertain significance Single submitter
- KANK2 p.Ala308Gly Uncertain significance Single submitter
- KANK2 p.Ala308Val Uncertain significance Single submitter
- KANK2 p.Ala311Thr Uncertain significance Single submitter
- KANK2 p.Ala349Thr Uncertain significance Single submitter
- KANK2 p.Ala518Thr Uncertain significance Single submitter
- KANK2 p.Ala577Thr Uncertain significance Single submitter
- KANK2 p.Ala610Ser Uncertain significance Single submitter
- KANK2 p.Ala650Val Uncertain significance Single submitter
- KANK2 p.Ala663Thr Uncertain significance Single submitter
- KANK2 p.Ala700Pro Uncertain significance Single submitter
- KANK2 p.Ala709Ser Uncertain significance Single submitter
- KANK2 p.Ala709Thr Uncertain significance Single submitter
- KANK2 p.Ala733Thr Uncertain significance Single submitter
- KANK2 p.Ala757Ser Uncertain significance Single submitter
- KANK2 p.Ala779Thr Uncertain significance Single submitter
- KANK2 p.Ala788Thr Uncertain significance Single submitter
- KANK2 p.Ala816Thr Uncertain significance Single submitter
- KANK2 p.Ala91Pro Uncertain significance Single submitter
- KANK2 p.Arg105Cys Uncertain significance Single submitter
- KANK2 p.Arg117Cys Uncertain significance Single submitter
- KANK2 p.Arg134His Uncertain significance Single submitter
- KANK2 p.Arg170Gln Uncertain significance Single submitter
- KANK2 p.Arg170Pro Uncertain significance Single submitter
- KANK2 p.Arg170Trp Uncertain significance Single submitter
- KANK2 p.Arg197Gln Uncertain significance Single submitter
- KANK2 p.Arg200Gln Uncertain significance Single submitter
- KANK2 p.Arg243Trp Uncertain significance Single submitter
- KANK2 p.Arg245His Uncertain significance Single submitter
- KANK2 p.Arg265Gln Uncertain significance Single submitter
- KANK2 p.Arg274Gln Uncertain significance Single submitter
- KANK2 p.Arg331Gln Uncertain significance Single submitter
- KANK2 p.Arg331Pro Uncertain significance Single submitter
- KANK2 p.Arg337Trp Uncertain significance Single submitter
- KANK2 p.Arg41His Uncertain significance Single submitter
- KANK2 p.Arg455Gly Uncertain significance Single submitter
- KANK2 p.Arg496Gln Uncertain significance Single submitter
- KANK2 p.Arg535Ser Uncertain significance Single submitter
- KANK2 p.Arg566Gln Uncertain significance Single submitter
- KANK2 p.Arg61Cys Uncertain significance Single submitter
- KANK2 p.Arg629His Uncertain significance Single submitter
- KANK2 p.Arg633His Uncertain significance Single submitter
- KANK2 p.Arg633Leu Uncertain significance Single submitter
- KANK2 p.Arg642Gln Uncertain significance Single submitter
- KANK2 p.Arg654Gln Uncertain significance Single submitter
- KANK2 p.Arg66His Uncertain significance Single submitter
- KANK2 p.Arg67Cys Uncertain significance Single submitter
- KANK2 p.Arg727Gln Uncertain significance Single submitter
- KANK2 p.Arg75Cys Uncertain significance Single submitter
- KANK2 p.Arg75His Uncertain significance Single submitter
- KANK2 p.Arg804Cys Uncertain significance Single submitter
- KANK2 p.Arg828Cys Uncertain significance Single submitter
- KANK2 p.Arg828Leu Uncertain significance Single submitter
- KANK2 p.Asn398Lys Uncertain significance Single submitter
- KANK2 p.Asn679Thr Uncertain significance Single submitter
- KANK2 p.Asp251Ala Uncertain significance Single submitter
- KANK2 p.Asp254Gly Uncertain significance Single submitter
- KANK2 p.Asp254Tyr Uncertain significance Single submitter
- KANK2 p.Asp280Asn Uncertain significance Single submitter
- KANK2 p.Asp322Asn Uncertain significance Single submitter
- KANK2 p.Asp328Tyr Uncertain significance Single submitter
- KANK2 p.Asp413Asn Uncertain significance Single submitter
- KANK2 p.Asp635Asn Uncertain significance Single submitter
- KANK2 p.Asp717Gly Uncertain significance Single submitter
- KANK2 p.Asp769Tyr Uncertain significance Single submitter
- KANK2 p.Asp803Asn Uncertain significance Single submitter
- KANK2 p.Gln316His Uncertain significance Single submitter
- KANK2 p.Gln352Arg Uncertain significance Single submitter
- KANK2 p.Glu263Gln Uncertain significance Single submitter
- KANK2 p.Glu424Lys Uncertain significance Single submitter
- KANK2 p.Glu530Asp Uncertain significance Single submitter
- KANK2 p.Glu543Gly Uncertain significance Single submitter
- KANK2 p.Glu543Lys Uncertain significance Single submitter
- KANK2 p.Glu720Lys Uncertain significance Single submitter
- KANK2 p.Glu842Asp Uncertain significance Single submitter
- KANK2 p.Gly144Ser Uncertain significance Single submitter
- KANK2 p.Gly154Ser Uncertain significance Single submitter
- KANK2 p.Gly163Glu Uncertain significance Single submitter
- KANK2 p.Gly183Arg Uncertain significance Single submitter
- KANK2 p.Gly194Ser Uncertain significance Single submitter
- KANK2 p.Gly348Val Uncertain significance Single submitter
- KANK2 p.Gly363Arg Uncertain significance Single submitter
- KANK2 p.Gly445Ser Uncertain significance Single submitter
- KANK2 p.Gly474Arg Uncertain significance Single submitter
- KANK2 p.Gly474Glu Uncertain significance Single submitter
- KANK2 p.Gly579Glu Uncertain significance Single submitter
- KANK2 p.Gly667Ser Uncertain significance Single submitter
- KANK2 p.Gly690Cys Uncertain significance Single submitter
- KANK2 p.Gly76Val Uncertain significance Single submitter
- KANK2 p.Gly783Ser Uncertain significance Single submitter
- KANK2 p.His187Leu Uncertain significance Single submitter
- KANK2 p.His187Tyr Uncertain significance Single submitter
- KANK2 p.His57Tyr Uncertain significance Single submitter
- KANK2 p.His677Asn Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
- KANK2 p.Arg133His Uncertain significance Multiple submitters
- KANK2 p.Arg197Trp Benign/Likely benign Multiple submitters
- KANK2 p.Arg60Gln Uncertain significance Multiple submitters
- KANK2 p.Arg614Trp Uncertain significance Multiple submitters
- KANK2 p.Arg61His Uncertain significance Multiple submitters
- KANK2 p.Arg727Trp Uncertain significance Multiple submitters
- KANK2 p.Gly506Ser Uncertain significance Multiple submitters
-
KANK2 p.Gly690Ser
Uncertain significance
Multiple submitters
nephrotic syndrome 16
- KANK2 p.Val188Met Uncertain significance Multiple submitters
- KANK2 p.Val675Met Uncertain significance Multiple submitters
- KANK2 p.Ala195Val Uncertain significance Single submitter
- KANK2 p.Ala822Val Uncertain significance Single submitter
- KANK2 p.Arg123Trp Uncertain significance Single submitter
- KANK2 p.Arg132Cys Uncertain significance Single submitter
- KANK2 p.Arg132His Uncertain significance Single submitter
- KANK2 p.Arg189Gln Uncertain significance Single submitter
- KANK2 p.Arg200Trp Uncertain significance Single submitter
- KANK2 p.Arg353Trp Uncertain significance Single submitter
- KANK2 p.Arg485Trp Uncertain significance Single submitter
- KANK2 p.Arg496Trp Uncertain significance Single submitter
- KANK2 p.Arg61Leu Uncertain significance Single submitter
- KANK2 p.Arg61Ser Uncertain significance Single submitter
- KANK2 p.Asp130Tyr Uncertain significance Single submitter
- KANK2 p.Gln229His Uncertain significance Single submitter
- KANK2 p.Glu125Lys Uncertain significance Single submitter
- KANK2 p.Glu136Lys Uncertain significance Single submitter
- KANK2 p.Glu247Lys Uncertain significance Single submitter
- KANK2 p.Gly667Asp Uncertain significance Single submitter
- KANK2 p.His644Gln Uncertain significance Single submitter
- KANK2 p.Ile731Met Uncertain significance Single submitter
-
KANK2 p.Leu250Arg
Uncertain significance
Single submitter
wooly hair-palmoplantar keratoderma syndrome
- KANK2 p.Lys198Asn Uncertain significance Single submitter
- KANK2 p.Lys223Asn Uncertain significance Single submitter
- KANK2 p.Met192Leu Uncertain significance Single submitter
- KANK2 p.Met829Ile Uncertain significance Single submitter
- KANK2 p.Phe501Leu Uncertain significance Single submitter
- KANK2 p.Phe726Leu Uncertain significance Single submitter
- KANK2 p.Phe835Leu Uncertain significance Single submitter
-
KANK2 p.Pro210Ser
Uncertain significance
Single submitter
KANK2-related disorder
- KANK2 p.Pro704Ser Uncertain significance Single submitter
- KANK2 p.Ser175Phe Uncertain significance Single submitter
- KANK2 p.Ser232Arg Uncertain significance Single submitter
- KANK2 p.Ser344Arg Uncertain significance Single submitter
- KANK2 p.Ser511Leu Uncertain significance Single submitter
- KANK2 p.Ser92Asn Uncertain significance Single submitter
- KANK2 p.Ser92Gly Uncertain significance Single submitter
- KANK2 p.Thr82Met Uncertain significance Single submitter
- KANK2 p.Trp81Cys Uncertain significance Single submitter
- KANK2 p.Tyr102His Likely benign Single submitter
- KANK2 p.Val218Ala Uncertain significance Single submitter
- KANK2 p.Val682Met Uncertain significance Single submitter
- KANK2 p.Val747Ile Uncertain significance Single submitter
-
KANK2 p.Asn679Ser
Uncertain significance
No assertion criteria
KANK2-related disorder
All KANK2 variants
Pathogenic 2
- p.Ala670Val No assertion criteria wooly hair-palmoplantar keratoderma syndrome
- p.Ser676Phe No assertion criteria nephrotic syndrome 16
Likely pathogenic 1
- p.Ser498fs Single submitter nephrotic syndrome 16
Conflicting classifications of pathogenicity 8
- p.Ala182Thr Single submitter ⚠
- p.Ala286Thr Single submitter ⚠
- p.Ala393Thr Single submitter ⚠
- p.Arg337Gln Single submitter ⚠
- p.Arg380Cys Single submitter nephrotic syndrome 16 ⚠
- p.Arg446Gln Single submitter ⚠
- p.Gly507Arg Single submitter ⚠
- p.Ser217Leu Single submitter ⚠
Benign 41
- c.1249+38G>C Multiple submitters
- c.1249+38G>T Multiple submitters
- c.1249+39G>C Multiple submitters
- c.1249+85C>T Multiple submitters
- c.1761-40C>T Multiple submitters
- c.1848+53C>A Multiple submitters
- c.1849-22C>T Multiple submitters
- c.1849-89C>T Multiple submitters
- c.2068+226C>T Multiple submitters
- c.2068+258A>T Multiple submitters
- c.2068+263C>T Multiple submitters
- c.2068+86C>T Multiple submitters
- c.2069-70G>A Multiple submitters
- c.-58A>G Multiple submitters
- c.-79-145G>A Multiple submitters
- c.-79-146C>T Multiple submitters
- c.-79-163G>T Multiple submitters
- c.*160G>A Multiple submitters
- c.*2C>T Multiple submitters
- p.Val271= Multiple submitters
- p.Val447Met Multiple submitters
- c.1249+46_1249+47del Single submitter
- c.1249+47del Single submitter
- c.1520+250C>T Single submitter
- c.1520+41dup Single submitter
- c.1521-296_1521-295dup Single submitter
- c.1521-296dup Single submitter
- c.1760+181G>C Single submitter
- c.1760+253C>T Single submitter
- c.1848+162C>T Single submitter
- c.1849-248T>C Single submitter
- c.1849-266del Single submitter
- c.2069-229A>G Single submitter
- c.2211+141C>T Single submitter
- c.2503-122GGGGCCA[3] Single submitter
- c.-79-175dup Single submitter
- p.Ala793= Single submitter
- p.Asp717= Single submitter
- p.Leu671= Single submitter
- p.Pro169= Single submitter
- p.Ser323Gly Single submitter
Benign/Likely benign 24
- c.1418-6C>T Multiple submitters
- c.2502+15G>A Multiple submitters nephrotic syndrome 16
- p.Ala346= Multiple submitters nephrotic syndrome 16
- p.Ala423= Multiple submitters
- p.Ala490Thr Multiple submitters
- p.Ala554Val Multiple submitters
- p.Ala9= Multiple submitters
- p.Arg197Trp Multiple submitters ⚠
- p.Arg309Gln Multiple submitters
- p.Arg559Leu Multiple submitters
- p.Arg559Trp Multiple submitters
- p.Asn520= Multiple submitters
- p.Asn666= Multiple submitters
- p.Gln563Arg Multiple submitters
- p.Gly118Ser Multiple submitters
- p.Ile662= Multiple submitters
- p.Met401Thr Multiple submitters
- p.Pro324= Multiple submitters
- p.Pro534= Multiple submitters
- p.Ser425= Multiple submitters
- p.Ser86= Multiple submitters
- p.Thr557Ser Multiple submitters
- p.Thr741= Multiple submitters
- p.Val289= Multiple submitters
Likely benign 169
- c.1249+166G>A Multiple submitters
- c.1249+37G>T Multiple submitters
- c.1761-168C>T Multiple submitters
- c.2211+14G>A Multiple submitters
- c.2412+18T>A Multiple submitters
- c.2412+25C>T Multiple submitters
- c.37+135G>C Multiple submitters
- c.-79-22C>T Multiple submitters
- p.Arg326Cys Multiple submitters
- p.Asn398= Multiple submitters
- p.Asn609Lys Multiple submitters
- p.Cys692= Multiple submitters
- p.Gln201Lys Multiple submitters
- p.Gly471Ser Multiple submitters
- p.Leu262= Multiple submitters
- p.Met838Val Multiple submitters
- p.Pro28= Multiple submitters
- p.Pro313= Multiple submitters
- p.Pro681= Multiple submitters
- p.Thr58= Multiple submitters
- p.Val4Ile Multiple submitters nephrotic syndrome 16
- c.1249+10C>T Single submitter
- c.1249+19G>T Single submitter
- c.1250-10G>A Single submitter
- c.1250-19T>C Single submitter
- c.1250-19T>G Single submitter
- c.1417+13T>C Single submitter
- c.1417+17C>T Single submitter
- c.1417+7G>C Single submitter
- c.1418-18C>T Single submitter
- c.1418-7C>T Single submitter
- c.1520+161G>T Single submitter
- c.1520+40G>A Single submitter
- c.1520+8_1520+10del Single submitter
- c.1521-12G>A Single submitter
- c.1521-12G>T Single submitter
- c.1521-167C>T Single submitter
- c.1521-16G>A Single submitter
- c.1521-17C>T Single submitter
- c.1521-279_1521-277dup Single submitter
- c.1760+9T>A Single submitter
- c.1761-11G>C Single submitter
- c.1848+12C>T Single submitter
- c.1848+4C>T Single submitter
- c.1849-18C>T Single submitter
- c.1849-8G>A Single submitter
- c.2068+20C>T Single submitter
- c.2069-15C>T Single submitter
- c.2211+13C>T Single submitter
- c.2212-18G>C Single submitter
- c.2412+7C>G Single submitter
- c.2413-12G>A Single submitter
- c.2413-13G>A Single submitter
- c.2413-14C>T Single submitter
- c.2413-7T>G Single submitter
- c.2502+14C>T Single submitter
- c.2502+18C>T Single submitter
- c.2502+19G>A Single submitter
- c.37+12C>T Single submitter
- c.38-178G>A Single submitter
- c.38-19G>A Single submitter
- p.Ala152= Single submitter
- p.Ala153= Single submitter
- p.Ala157= Single submitter
- p.Ala193= Single submitter
- p.Ala241= Single submitter
- p.Ala286= Single submitter
- p.Ala299= Single submitter
- p.Ala469= Single submitter
- p.Ala544= Single submitter
- p.Ala554= Single submitter
- p.Ala733= Single submitter
- p.Ala788= Single submitter
- p.Arg189Trp Single submitter
- p.Arg410Gln Single submitter
- p.Arg480Gln Single submitter
- p.Arg537= Single submitter
- p.Arg67= Single submitter
- p.Arg751= Single submitter
- p.Arg751Gln Single submitter
- p.Asn524= Single submitter
- p.Asn766= Single submitter
- p.Asp635= Single submitter
- p.Asp771= Single submitter
- p.Asp815= Single submitter
- p.Cys103= Single submitter
- p.Cys412= Single submitter
- p.Cys833= Single submitter
- p.Gln439= Single submitter
- p.Gln546= Single submitter
- p.Glu585= Single submitter
- p.Glu589= Single submitter
- p.Gly104Ala Single submitter
- p.Gly106= Single submitter
- p.Gly161= Single submitter
- p.Gly335= Single submitter
- p.Gly690= Single submitter
- p.Gly729= Single submitter
- p.His238= Single submitter
- p.His495= Single submitter
- p.His6= Single submitter
- p.His637= Single submitter
- p.His749= Single submitter
- p.Ile209= Single submitter
- p.Ile799= Single submitter
- p.Leu226= Single submitter
- p.Leu285= Single submitter
- p.Leu564= Single submitter
- p.Leu686= Single submitter
- p.Leu728= Single submitter
- p.Lys234Arg Single submitter
- p.Lys442= Single submitter
- p.Phe379= Single submitter
- p.Phe501= Single submitter
- p.Pro109= Single submitter
- p.Pro122= Single submitter
- p.Pro165= Single submitter
- p.Pro177= Single submitter
- p.Pro253= Single submitter
- p.Pro279= Single submitter
- p.Pro320= Single submitter
- p.Pro321= Single submitter
- p.Pro350= Single submitter
- p.Pro359= Single submitter
- p.Pro370Ser Single submitter
- p.Pro377= Single submitter
- p.Pro539= Single submitter
- p.Pro545= Single submitter
- p.Pro592= Single submitter
- p.Pro638= Single submitter
- p.Ser217= Single submitter
- p.Ser266= Single submitter
- p.Ser344= Single submitter
- p.Ser425Leu Single submitter
- p.Ser427= Single submitter
- p.Ser432= Single submitter
- p.Ser466= Single submitter
- p.Ser591= Single submitter
- p.Ser72= Single submitter
- p.Thr127= Single submitter
- p.Thr143= Single submitter
- p.Thr294= Single submitter
- p.Thr329= Single submitter
- p.Thr387= Single submitter
- p.Thr438= Single submitter
- p.Thr493= Single submitter
- p.Thr517= Single submitter
- p.Thr557= Single submitter
- p.Thr582= Single submitter
- p.Thr582Met Single submitter
- p.Thr647= Single submitter
- p.Thr708= Single submitter
- p.Thr82= Single submitter
- p.Tyr102His Single submitter ⚠
- p.Tyr111Cys Single submitter
- p.Tyr360= Single submitter
- p.Tyr40= Single submitter
- p.Tyr49= Single submitter
- p.Tyr604= Single submitter
- p.Val618= Single submitter
- p.Val682= Single submitter
- p.Val755= Single submitter
- p.Val794= Single submitter
- c.1417+9T>C No assertion criteria KANK2-related disorder
- c.1521-7T>A No assertion criteria KANK2-related disorder
- c.2503-9_2503-8del No assertion criteria KANK2-related disorder
- p.Asn529= No assertion criteria KANK2-related disorder
- p.Gly576= No assertion criteria KANK2-related disorder
- p.His400= No assertion criteria KANK2-related disorder
Uncertain significance 299
- p.Ala182Val Multiple submitters ⚠
- p.Ala317Val Multiple submitters ⚠
- p.Ala347Thr Multiple submitters ⚠
- p.Ala351Thr Multiple submitters ⚠
- p.Ala393Gly Multiple submitters ⚠
- p.Ala653Val Multiple submitters ⚠
- p.Ala711Val Multiple submitters
- p.Arg105His Multiple submitters ⚠
- p.Arg117His Multiple submitters ⚠
- p.Arg123Gln Multiple submitters ⚠
- p.Arg126His Multiple submitters ⚠
- p.Arg133His Multiple submitters ⚠
- p.Arg309Trp Multiple submitters ⚠
- p.Arg326His Multiple submitters nephrotic syndrome 16 ⚠
- p.Arg326Leu Multiple submitters ⚠
- p.Arg380His Multiple submitters ⚠
- p.Arg41Cys Multiple submitters
- p.Arg485Gln Multiple submitters ⚠
- p.Arg566Gly Multiple submitters ⚠
- p.Arg60Gln Multiple submitters ⚠
- p.Arg614Trp Multiple submitters ⚠
- p.Arg61His Multiple submitters ⚠
- p.Arg643Gln Multiple submitters ⚠
- p.Arg649Trp Multiple submitters
- p.Arg699Cys Multiple submitters ⚠
- p.Arg699His Multiple submitters ⚠
- p.Arg69His Multiple submitters ⚠
- p.Arg727Trp Multiple submitters ⚠
- p.Arg828His Multiple submitters ⚠
- p.Asn609Ser Multiple submitters ⚠
- p.Asp29Asn Multiple submitters ⚠
- p.Asp525Asn Multiple submitters ⚠
- p.Gln307Arg Multiple submitters ⚠
- p.Glu467Lys Multiple submitters ⚠
- p.Gly173Glu Multiple submitters ⚠
- p.Gly361Ser Multiple submitters ⚠
- p.Gly445Asp Multiple submitters ⚠
- p.Gly506Ser Multiple submitters ⚠
- p.Gly690Ser Multiple submitters nephrotic syndrome 16 ⚠
- p.Gly750Arg Multiple submitters ⚠
- p.His637Gln Multiple submitters ⚠
- p.Leu594Phe Multiple submitters
- p.Pro166Ala Multiple submitters ⚠
- p.Pro259Gln Multiple submitters ⚠
- p.Pro30Ser Multiple submitters ⚠
- p.Pro321Ser Multiple submitters ⚠
- p.Pro324Leu Multiple submitters ⚠
- p.Pro359His Multiple submitters ⚠
- p.Pro373Arg Multiple submitters ⚠
- p.Pro457Ser Multiple submitters nephrotic syndrome 16 ⚠
- p.Pro539Leu Multiple submitters ⚠
- p.Ser147Phe Multiple submitters ⚠
- p.Ser181Asn Multiple submitters ⚠
- p.Ser428Leu Multiple submitters ⚠
- p.Ser443Ile Multiple submitters ⚠
- p.Ser848Leu Multiple submitters nephrotic syndrome 16 ⚠
- p.Thr127Ala Multiple submitters
- p.Thr14Ile Multiple submitters ⚠
- p.Thr362Pro Multiple submitters ⚠
- p.Thr472= Multiple submitters
- p.Thr552Met Multiple submitters ⚠
- p.Val188Met Multiple submitters ⚠
- p.Val502Met Multiple submitters nephrotic syndrome 16 ⚠
- p.Val675Met Multiple submitters ⚠
- c.1249+6C>T Single submitter
- c.1367_1417+12del Single submitter
- c.1417+4A>G Single submitter
- c.1520+18_1520+31del Single submitter
- c.1520+3G>A Single submitter
- c.1761-3C>T Single submitter
- c.1848+6A>G Single submitter
- p.Ala113Gly Single submitter ⚠
- p.Ala139Glu Single submitter ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala195Val Single submitter ⚠
- p.Ala241Glu Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala290Ser Single submitter ⚠
- p.Ala299Val Single submitter ⚠
- p.Ala308Gly Single submitter ⚠
- p.Ala308Val Single submitter ⚠
- p.Ala311Thr Single submitter ⚠
- p.Ala349Thr Single submitter ⚠
- p.Ala518Thr Single submitter ⚠
- p.Ala577Thr Single submitter ⚠
- p.Ala610Ser Single submitter ⚠
- p.Ala636Thr Single submitter
- p.Ala650Val Single submitter ⚠
- p.Ala663Thr Single submitter ⚠
- p.Ala700Pro Single submitter ⚠
- p.Ala709Ser Single submitter ⚠
- p.Ala709Thr Single submitter ⚠
- p.Ala733Thr Single submitter ⚠
- p.Ala757Ser Single submitter ⚠
- p.Ala779Thr Single submitter ⚠
- p.Ala788Thr Single submitter ⚠
- p.Ala816Thr Single submitter ⚠
- p.Ala822Val Single submitter ⚠
- p.Ala91Pro Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg123Leu Single submitter
- p.Arg123Trp Single submitter ⚠
- p.Arg132Cys Single submitter ⚠
- p.Arg132His Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg170Gln Single submitter ⚠
- p.Arg170Pro Single submitter ⚠
- p.Arg170Trp Single submitter ⚠
- p.Arg189Gln Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg200Trp Single submitter ⚠
- p.Arg243Trp Single submitter ⚠
- p.Arg245His Single submitter ⚠
- p.Arg265Gln Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg331Pro Single submitter ⚠
- p.Arg337Trp Single submitter ⚠
- p.Arg353Trp Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg455Gly Single submitter ⚠
- p.Arg485Trp Single submitter ⚠
- p.Arg496Gln Single submitter ⚠
- p.Arg496Trp Single submitter ⚠
- p.Arg535Ser Single submitter ⚠
- p.Arg566Gln Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61Leu Single submitter ⚠
- p.Arg61Ser Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Arg633His Single submitter ⚠
- p.Arg633Leu Single submitter ⚠
- p.Arg642Gln Single submitter ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg66His Single submitter ⚠
- p.Arg67Cys Single submitter ⚠
- p.Arg727Gln Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg804= Single submitter
- p.Arg804Cys Single submitter ⚠
- p.Arg828Cys Single submitter ⚠
- p.Arg828Leu Single submitter ⚠
- p.Asn398Lys Single submitter ⚠
- p.Asn661Ser Single submitter
- p.Asn679Thr Single submitter ⚠
- p.Asp130Tyr Single submitter ⚠
- p.Asp251Ala Single submitter ⚠
- p.Asp254Gly Single submitter ⚠
- p.Asp254Tyr Single submitter ⚠
- p.Asp280Asn Single submitter ⚠
- p.Asp322Asn Single submitter ⚠
- p.Asp328Tyr Single submitter ⚠
- p.Asp413Asn Single submitter ⚠
- p.Asp635Asn Single submitter ⚠
- p.Asp717Gly Single submitter ⚠
- p.Asp718Asn Single submitter
- p.Asp769Tyr Single submitter ⚠
- p.Asp803Asn Single submitter ⚠
- p.Cys761Tyr Single submitter wooly hair-palmoplantar keratoderma syndrome
- p.Gln229His Single submitter ⚠
- p.Gln304_Ala305insGluLeuGln Single submitter
- p.Gln316His Single submitter ⚠
- p.Gln352Arg Single submitter ⚠
- p.Glu125Lys Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu263Gln Single submitter ⚠
- p.Glu302_Gln304del Single submitter
- p.Glu424Lys Single submitter ⚠
- p.Glu530Asp Single submitter ⚠
- p.Glu543Gly Single submitter ⚠
- p.Glu543Lys Single submitter ⚠
- p.Glu720Lys Single submitter ⚠
- p.Glu842Asp Single submitter ⚠
- p.Gly144Ser Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly163Glu Single submitter ⚠
- p.Gly183Arg Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly348Val Single submitter ⚠
- p.Gly363Arg Single submitter ⚠
- p.Gly445Ser Single submitter ⚠
- p.Gly474Arg Single submitter ⚠
- p.Gly474Glu Single submitter ⚠
- p.Gly507= Single submitter
- p.Gly579Glu Single submitter ⚠
- p.Gly667Asp Single submitter ⚠
- p.Gly667Ser Single submitter ⚠
- p.Gly690Cys Single submitter ⚠
- p.Gly76Val Single submitter ⚠
- p.Gly783Ser Single submitter ⚠
- p.His187Leu Single submitter ⚠
- p.His187Tyr Single submitter ⚠
- p.His454_Thr458del Single submitter
- p.His57Tyr Single submitter ⚠
- p.His644Gln Single submitter ⚠
- p.His677Asn Single submitter ⚠
- p.His782Arg Single submitter
- p.Ile53Met Single submitter ⚠
- p.Ile586Val Single submitter ⚠
- p.Ile595Leu Single submitter ⚠
- p.Ile731Met Single submitter ⚠
- p.Leu248Phe Single submitter ⚠
- p.Leu250Arg Single submitter wooly hair-palmoplantar keratoderma syndrome ⚠
- p.Leu252Phe Single submitter ⚠
- p.Leu594delinsProTer Single submitter
- p.Leu594Val Single submitter ⚠
- p.Lys198Asn Single submitter ⚠
- p.Lys223Asn Single submitter ⚠
- p.Lys442Arg Single submitter ⚠
- p.Lys603Glu Single submitter
- p.Lys832Arg Single submitter ⚠
- p.Met192Leu Single submitter ⚠
- p.Met1del Single submitter
- p.Met278Thr Single submitter ⚠
- p.Met278Val Single submitter ⚠
- p.Met829Ile Single submitter ⚠
- p.Phe501Leu Single submitter ⚠
- p.Phe501Ser Single submitter ⚠
- p.Phe726Leu Single submitter ⚠
- p.Phe835Leu Single submitter ⚠
- p.Pro167Arg Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro169Ala Single submitter ⚠
- p.Pro169Ser Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro210Ser Single submitter KANK2-related disorder ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Pro259Thr Single submitter ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro324Ala Single submitter ⚠
- p.Pro359Ala Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro429Ser Single submitter ⚠
- p.Pro430Leu Single submitter ⚠
- p.Pro476Leu Single submitter ⚠
- p.Pro534Leu Single submitter ⚠
- p.Pro572Thr Single submitter ⚠
- p.Pro608Ala Single submitter ⚠
- p.Pro704Ser Single submitter ⚠
- p.Ser171Gly Single submitter ⚠
- p.Ser175Phe Single submitter ⚠
- p.Ser181Gly Single submitter nephrotic syndrome 16 ⚠
- p.Ser181Thr Single submitter ⚠
- p.Ser232Arg Single submitter ⚠
- p.Ser344Arg Single submitter ⚠
- p.Ser356Asn Single submitter ⚠
- p.Ser381Asn Single submitter ⚠
- p.Ser406Ile Single submitter ⚠
- p.Ser427Leu Single submitter ⚠
- p.Ser510Leu Single submitter ⚠
- p.Ser511Leu Single submitter ⚠
- p.Ser515Ala Single submitter ⚠
- p.Ser540Gly Single submitter ⚠
- p.Ser568Phe Single submitter ⚠
- p.Ser674Tyr Single submitter ⚠
- p.Ser689= Single submitter
- p.Ser72Leu Single submitter ⚠
- p.Ser92Asn Single submitter ⚠
- p.Ser92Gly Single submitter ⚠
- p.Ter852Gln Single submitter
- p.Thr127Met Single submitter
- p.Thr149Pro Single submitter ⚠
- p.Thr264Ser Single submitter ⚠
- p.Thr362Arg Single submitter ⚠
- p.Thr396Ile Single submitter ⚠
- p.Thr493Met Single submitter ⚠
- p.Thr557Ala Single submitter ⚠
- p.Thr573Ala Single submitter ⚠
- p.Thr582Arg Single submitter ⚠
- p.Thr58Met Single submitter
- p.Thr612Lys Single submitter ⚠
- p.Thr647Ala Single submitter ⚠
- p.Thr82Met Single submitter ⚠
- p.Trp81Cys Single submitter ⚠
- p.Tyr508Cys Single submitter ⚠
- p.Tyr620His Single submitter ⚠
- p.Val162Met Single submitter ⚠
- p.Val178Met Single submitter ⚠
- p.Val211Met Single submitter ⚠
- p.Val218Ala Single submitter ⚠
- p.Val327Met Single submitter ⚠
- p.Val339Ala Single submitter ⚠
- p.Val421Gly Single submitter ⚠
- p.Val62Met Single submitter ⚠
- p.Val682Met Single submitter ⚠
- p.Val747Ile Single submitter ⚠
- p.Val754Ala Single submitter
- p.Val794Met Single submitter ⚠
- p.Val7Met Single submitter ⚠
- p.Ala157Thr No assertion criteria KANK2-related disorder ⚠
- p.Arg642Trp No assertion criteria KANK2-related disorder ⚠
- p.Asn679Ser No assertion criteria KANK2-related disorder ⚠