STAG2 — 774 ClinVar variants
All ClinVar germline STAG2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 285 flagged for review →
24 Pathogenic · 2 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 8 Conflicting · 62 Benign · 34 Benign/Likely benign · 280 Likely benign · 339 Uncertain significance
Full STAG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 285
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- STAG2 p.Lys36Gln Likely pathogenic Single submitter
-
STAG2 p.Ser327Asn
Pathogenic
No assertion criteria
Mullegama-Klein-Martinez syndrome
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STAG2 p.Arg667Gln
Conflicting
Single submitter
Inborn genetic diseases
-
STAG2 p.Arg954Cys
Conflicting
Single submitter
Mullegama-Klein-Martinez syndrome
-
STAG2 p.Met1057Val
Conflicting
Single submitter
Inborn genetic diseases
-
STAG2 p.Pro8Thr
Conflicting
Single submitter
Mullegama-Klein-Martinez syndrome
-
STAG2 p.Ser1031Thr
Conflicting
Single submitter
Inborn genetic diseases
- STAG2 p.Val1020Gly Conflicting Single submitter
Predictors lean, ClinVar uncertain 185
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 185
- STAG2 p.Ala428Gly Uncertain significance Multiple submitters
-
STAG2 p.Ala787Thr
Uncertain significance
Multiple submitters
Mullegama-Klein-Martinez syndrome
- STAG2 p.Arg422Trp Uncertain significance Multiple submitters
-
STAG2 p.Arg617Gln
Uncertain significance
Multiple submitters
STAG2-related disorder
- STAG2 p.Arg760Cys Uncertain significance Multiple submitters
-
STAG2 p.Asn261Ser
Uncertain significance
Multiple submitters
Mullegama-Klein-Martinez syndrome
-
STAG2 p.Asn618Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAG2 p.Asp651Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAG2 p.Asp840Asn Uncertain significance Multiple submitters
-
STAG2 p.Asp850Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAG2 p.Ile288Val Uncertain significance Multiple submitters
- STAG2 p.Met1144Val Uncertain significance Multiple submitters
-
STAG2 p.Pro1113Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAG2 p.Ser1007Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAG2 p.Ser1140Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAG2 p.Ser97Leu
Uncertain significance
Multiple submitters
STAG2-related disorder
-
STAG2 p.Thr379Ile
Uncertain significance
Multiple submitters
Mullegama-Klein-Martinez syndrome
- STAG2 p.Val767Gly Uncertain significance Multiple submitters
- STAG2 p.Ala133Thr Uncertain significance Single submitter
-
STAG2 p.Ala387Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Ala51Gly Uncertain significance Single submitter
- STAG2 p.Ala576Thr Uncertain significance Single submitter
- STAG2 p.Ala582Gly Uncertain significance Single submitter
-
STAG2 p.Ala684Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Ala852Gly Uncertain significance Single submitter
- STAG2 p.Ala857Ser Uncertain significance Single submitter
- STAG2 p.Arg1071Gln Uncertain significance Single submitter
- STAG2 p.Arg1082Trp Uncertain significance Single submitter
- STAG2 p.Arg1195His Uncertain significance Single submitter
- STAG2 p.Arg184Gln Uncertain significance Single submitter
- STAG2 p.Arg213Lys Uncertain significance Single submitter
-
STAG2 p.Arg263Lys
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Arg271Gln Uncertain significance Single submitter
- STAG2 p.Arg271Trp Uncertain significance Single submitter
- STAG2 p.Arg298Cys Uncertain significance Single submitter
- STAG2 p.Arg344Lys Uncertain significance Single submitter
- STAG2 p.Arg439Cys Uncertain significance Single submitter
- STAG2 p.Arg439His Uncertain significance Single submitter
- STAG2 p.Arg516Lys Uncertain significance Single submitter
-
STAG2 p.Arg604Pro
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Arg69Gln Uncertain significance Single submitter
- STAG2 p.Arg760His Uncertain significance Single submitter
- STAG2 p.Arg807His Uncertain significance Single submitter
- STAG2 p.Asn12Ser Uncertain significance Single submitter
- STAG2 p.Asn459Ser Uncertain significance Single submitter
- STAG2 p.Asn712Ser Uncertain significance Single submitter
- STAG2 p.Asn778Asp Uncertain significance Single submitter
- STAG2 p.Asn841Asp Uncertain significance Single submitter
- STAG2 p.Asn842Ser Uncertain significance Single submitter
- STAG2 p.Asn894Ser Uncertain significance Single submitter
- STAG2 p.Asn928Ile Uncertain significance Single submitter
- STAG2 p.Asp101Tyr Uncertain significance Single submitter
- STAG2 p.Asp1055Gly Uncertain significance Single submitter
- STAG2 p.Asp1136Val Uncertain significance Single submitter
- STAG2 p.Asp1154Asn Uncertain significance Single submitter
-
STAG2 p.Asp1202Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Asp209Gly Uncertain significance Single submitter
- STAG2 p.Asp326His Uncertain significance Single submitter
-
STAG2 p.Asp441Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Asp445Val Uncertain significance Single submitter
- STAG2 p.Cys736Arg Uncertain significance Single submitter
- STAG2 p.Gln1108Glu Uncertain significance Single submitter
- STAG2 p.Gln167His Uncertain significance Single submitter
- STAG2 p.Gln590Glu Uncertain significance Single submitter
- STAG2 p.Gln770Arg Uncertain significance Single submitter
- STAG2 p.Glu276Lys Uncertain significance Single submitter
- STAG2 p.Glu342Lys Uncertain significance Single submitter
- STAG2 p.Glu443Gly Uncertain significance Single submitter
- STAG2 p.Glu472Gly Uncertain significance Single submitter
- STAG2 p.Glu660Lys Uncertain significance Single submitter
- STAG2 p.Glu721Lys Uncertain significance Single submitter
-
STAG2 p.Glu902Gly
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Glu984Ala Uncertain significance Single submitter
- STAG2 p.Gly1087Ser Uncertain significance Single submitter
-
STAG2 p.Gly157Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Gly38Val Uncertain significance Single submitter
- STAG2 p.Gly455Cys Uncertain significance Single submitter
- STAG2 p.Gly49Cys Uncertain significance Single submitter
- STAG2 p.Gly540Arg Uncertain significance Single submitter
- STAG2 p.Gly54Val Uncertain significance Single submitter
- STAG2 p.Gly56Ser Uncertain significance Single submitter
- STAG2 p.Gly676Asp Uncertain significance Single submitter
- STAG2 p.Gly846Ser Uncertain significance Single submitter
- STAG2 p.Gly846Val Uncertain significance Single submitter
- STAG2 p.Gly977Asp Uncertain significance Single submitter
- STAG2 p.His108Arg Uncertain significance Single submitter
-
STAG2 p.His295Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.His732Tyr Uncertain significance Single submitter
-
STAG2 p.His974Tyr
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Ile1002Thr Uncertain significance Single submitter
-
STAG2 p.Ile239Val
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Ile30Val Uncertain significance Single submitter
-
STAG2 p.Ile375Asn
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Ile524Val Uncertain significance Single submitter
- STAG2 p.Ile529Val Uncertain significance Single submitter
-
STAG2 p.Ile563Val
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Ile729Val Uncertain significance Single submitter
- STAG2 p.Ile731Thr Uncertain significance Single submitter
- STAG2 p.Ile771Met Uncertain significance Single submitter
- STAG2 p.Ile794Thr Uncertain significance Single submitter
- STAG2 p.Ile794Val Uncertain significance Single submitter
- STAG2 p.Ile835Thr Uncertain significance Single submitter
- STAG2 p.Ile948Val Uncertain significance Single submitter
- STAG2 p.Leu1092His Uncertain significance Single submitter
- STAG2 p.Leu14Gln Uncertain significance Single submitter
- STAG2 p.Leu226Phe Uncertain significance Single submitter
- STAG2 p.Leu237Val Uncertain significance Single submitter
- STAG2 p.Leu460Phe Uncertain significance Single submitter
-
STAG2 p.Leu566Val
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Leu574Val Uncertain significance Single submitter
- STAG2 p.Leu613Ser Uncertain significance Single submitter
-
STAG2 p.Leu629Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Leu669Ile Uncertain significance Single submitter
-
STAG2 p.Leu759Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAG2 p.Lys1009Glu
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Lys1073Arg Uncertain significance Single submitter
-
STAG2 p.Lys254Thr
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Lys290Gln Uncertain significance Single submitter
-
STAG2 p.Lys33Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAG2 p.Lys47Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Lys48Arg Uncertain significance Single submitter
- STAG2 p.Lys551Glu Uncertain significance Single submitter
- STAG2 p.Lys55Arg Uncertain significance Single submitter
- STAG2 p.Lys692Arg Uncertain significance Single submitter
- STAG2 p.Lys714Arg Uncertain significance Single submitter
- STAG2 p.Lys762Arg Uncertain significance Single submitter
- STAG2 p.Met1088Leu Uncertain significance Single submitter
- STAG2 p.Met1102Ile Uncertain significance Single submitter
- STAG2 p.Met1115Thr Uncertain significance Single submitter
- STAG2 p.Met1115Val Uncertain significance Single submitter
- STAG2 p.Met1139Val Uncertain significance Single submitter
- STAG2 p.Met1231Val Uncertain significance Single submitter
-
STAG2 p.Met224Thr
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Met241Val Uncertain significance Single submitter
- STAG2 p.Met284Arg Uncertain significance Single submitter
- STAG2 p.Met447Ile Uncertain significance Single submitter
- STAG2 p.Met448Val Uncertain significance Single submitter
- STAG2 p.Met765Thr Uncertain significance Single submitter
- STAG2 p.Met809Ile Uncertain significance Single submitter
- STAG2 p.Met83Leu Uncertain significance Single submitter
-
STAG2 p.Met95Val
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Phe1006Leu Uncertain significance Single submitter
- STAG2 p.Pro166Ser Uncertain significance Single submitter
- STAG2 p.Pro50Leu Uncertain significance Single submitter
- STAG2 p.Pro812Leu Uncertain significance Single submitter
- STAG2 p.Pro817Ala Uncertain significance Single submitter
- STAG2 p.Ser1068Pro Uncertain significance Single submitter
- STAG2 p.Ser1078Ala Uncertain significance Single submitter
- STAG2 p.Ser1101Asn Uncertain significance Single submitter
- STAG2 p.Ser1137Asn Uncertain significance Single submitter
Predictors split 92
The independent predictors disagree with each other — read with care.
-
STAG2 p.Ala532Val
Uncertain significance
Multiple submitters
STAG2-related disorder
-
STAG2 p.Arg146Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAG2 p.Arg617Trp Benign/Likely benign Multiple submitters
- STAG2 p.Arg667Trp Uncertain significance Multiple submitters
- STAG2 p.Cys772Ser Uncertain significance Multiple submitters
-
STAG2 p.Gly935Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAG2 p.Met725Ile Uncertain significance Multiple submitters
- STAG2 p.Pro726Ser Uncertain significance Multiple submitters
- STAG2 p.Pro817Ser Uncertain significance Multiple submitters
- STAG2 p.Ser633Cys Uncertain significance Multiple submitters
-
STAG2 p.Thr601Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- STAG2 p.Thr966Arg Uncertain significance Multiple submitters
- STAG2 p.Tyr433Cys Uncertain significance Multiple submitters
-
STAG2 p.Ala300Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAG2 p.Ala427Thr
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Ala520Gly Uncertain significance Single submitter
- STAG2 p.Ala550Val Uncertain significance Single submitter
-
STAG2 p.Ala696Thr
Uncertain significance
Single submitter
STAG2-related disorder
- STAG2 p.Ala700Val Uncertain significance Single submitter
- STAG2 p.Ala733Thr Uncertain significance Single submitter
- STAG2 p.Ala956Val Uncertain significance Single submitter
- STAG2 p.Arg1034Ile Uncertain significance Single submitter
- STAG2 p.Arg1045Gln Uncertain significance Single submitter
- STAG2 p.Arg1071Trp Uncertain significance Single submitter
- STAG2 p.Arg110Gln Uncertain significance Single submitter
- STAG2 p.Arg252Gln Uncertain significance Single submitter
- STAG2 p.Arg560Gly Uncertain significance Single submitter
-
STAG2 p.Arg604Gln
Uncertain significance
Single submitter
STAG2-related disorder
- STAG2 p.Arg654Gly Uncertain significance Single submitter
- STAG2 p.Asn277Ser Uncertain significance Single submitter
- STAG2 p.Asn587Asp Uncertain significance Single submitter
- STAG2 p.Asn641Lys Uncertain significance Single submitter
-
STAG2 p.Asp111Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Asp1203Tyr Uncertain significance Single submitter
- STAG2 p.Asp1250Glu Uncertain significance Single submitter
- STAG2 p.Asp153Asn Uncertain significance Single submitter
- STAG2 p.Asp155Glu Uncertain significance Single submitter
- STAG2 p.Asp26Tyr Uncertain significance Single submitter
- STAG2 p.Asp627His Uncertain significance Single submitter
- STAG2 p.Asp659Asn Uncertain significance Single submitter
- STAG2 p.Asp724Gly Uncertain significance Single submitter
- STAG2 p.Asp757Tyr Uncertain significance Single submitter
- STAG2 p.Asp831Gly Uncertain significance Single submitter
-
STAG2 p.Asp850Val
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Asp976Glu Uncertain significance Single submitter
- STAG2 p.Asp976His Uncertain significance Single submitter
- STAG2 p.Cys736Ser Uncertain significance Single submitter
-
STAG2 p.Gln211Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Gln352Glu Benign Single submitter
- STAG2 p.Gln728His Likely pathogenic Single submitter
- STAG2 p.Gln924Arg Uncertain significance Single submitter
- STAG2 p.Glu104Gln Uncertain significance Single submitter
- STAG2 p.Glu1205Lys Uncertain significance Single submitter
- STAG2 p.Glu154Gly Uncertain significance Single submitter
- STAG2 p.Glu824Ala Uncertain significance Single submitter
- STAG2 p.Gly1062Val Uncertain significance Single submitter
- STAG2 p.His415Arg Uncertain significance Single submitter
- STAG2 p.His832Arg Uncertain significance Single submitter
- STAG2 p.His859Tyr Uncertain significance Single submitter
-
STAG2 p.Ile2Thr
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Ile741Asn Uncertain significance Single submitter
- STAG2 p.Ile835Phe Uncertain significance Single submitter
- STAG2 p.Ile920Thr Uncertain significance Single submitter
- STAG2 p.Leu1222Pro Uncertain significance Single submitter
- STAG2 p.Leu226Met Uncertain significance Single submitter
-
STAG2 p.Leu432Ile
Uncertain significance
Single submitter
Mullegama-Klein-Martinez syndrome
- STAG2 p.Leu548Phe Uncertain significance Single submitter
- STAG2 p.Leu639Phe Uncertain significance Single submitter
- STAG2 p.Leu919Val Uncertain significance Single submitter
- STAG2 p.Lys562Glu Uncertain significance Single submitter
- STAG2 p.Lys607Asn Uncertain significance Single submitter
- STAG2 p.Lys860Asn Uncertain significance Single submitter
- STAG2 p.Met1226Ile Uncertain significance Single submitter
- STAG2 p.Met484Thr Uncertain significance Single submitter
- STAG2 p.Met765Ile Uncertain significance Single submitter
- STAG2 p.Met890Ile Uncertain significance Single submitter
- STAG2 p.Met95Thr Uncertain significance Single submitter
-
STAG2 p.Phe121Leu
Uncertain significance
Single submitter
holoprosencephaly 13, X-linked
- STAG2 p.Phe798Cys Uncertain significance Single submitter
- STAG2 p.Phe955Leu Uncertain significance Single submitter
-
STAG2 p.Pro1236Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- STAG2 p.Pro726Thr Uncertain significance Single submitter
- STAG2 p.Ser1004Asn Uncertain significance Single submitter
- STAG2 p.Ser819Cys Uncertain significance Single submitter
- STAG2 p.Thr132Ala Uncertain significance Single submitter
- STAG2 p.Thr601Ser Uncertain significance Single submitter
- STAG2 p.Thr645Ala Uncertain significance Single submitter
- STAG2 p.Tyr414Phe Uncertain significance Single submitter
- STAG2 p.Val292Met Uncertain significance Single submitter
- STAG2 p.Val465Ala Uncertain significance Single submitter
- STAG2 p.Val547Met Uncertain significance Single submitter
-
STAG2 p.Gln96His
Uncertain significance
No assertion criteria
STAG2-related disorder
All STAG2 variants
Pathogenic 24
- p.Arg1012Ter Multiple submitters holoprosencephaly 13, X-linked
- p.Arg1033Ter Multiple submitters Mullegama-Klein-Martinez syndrome
- c.1018-1G>A Single submitter STAG2-related disorder
- c.1412_1416+9del Single submitter holoprosencephaly 13, X-linked
- c.2096+2T>A Single submitter holoprosencephaly 13, X-linked
- c.2533+1G>A Single submitter
- c.2924+2_2924+11del Single submitter Inborn genetic diseases
- c.3053+2T>C Single submitter holoprosencephaly 13, X-linked
- p.Ala638fs Single submitter Mullegama-Klein-Martinez syndrome
- p.Arg1045Ter Single submitter
- p.Arg1242Ter Single submitter
- p.Asn587fs Single submitter
- p.Gln593Ter Single submitter Mullegama-Klein-Martinez syndrome
- p.Glu785Ter Single submitter Inborn genetic diseases
- p.His1111fs Single submitter holoprosencephaly 13, X-linked
- p.Ile118fs Single submitter Mullegama-Klein-Martinez syndrome
- p.Leu597fs Single submitter Mullegama-Klein-Martinez syndrome
- p.Phe289fs Single submitter holoprosencephaly 13, X-linked
- p.Thr162fs Single submitter
- p.Val767fs Single submitter
- p.Arg146Ter No assertion criteria holoprosencephaly 13, X-linked
- p.Arg69Ter No assertion criteria holoprosencephaly 13, X-linked
- p.Lys1009Asn No assertion criteria Mullegama-Klein-Martinez syndrome
- p.Ser327Asn No assertion criteria Mullegama-Klein-Martinez syndrome ⚠
Pathogenic/Likely pathogenic 2
- c.1196+4_1196+7del Multiple submitters
- p.Glu194fs Multiple submitters STAG2-related disorder
Likely pathogenic 25
- c.1821+1G>A Single submitter Mullegama-Klein-Martinez syndrome
- c.2096+3_2096+6del Single submitter Mullegama-Klein-Martinez syndrome
- c.2184+2T>G Single submitter X-linked STAG2-related disorders
- c.2776-1G>A Single submitter
- c.288+1G>T Single submitter STAG2-related disorder
- c.820-8_822del Single submitter
- p.Arg604Ter Single submitter STAG2-related disorder
- p.Arg862Gly Single submitter Inborn genetic diseases
- p.Cys535Ter Single submitter STAG2-related disorder
- p.Gln140Ter Single submitter STAG2-related disorder
- p.Gln556Ter Single submitter STAG2-related disorder
- p.Gln728His Single submitter ⚠
- p.Gln914Ter Single submitter Mullegama-Klein-Martinez syndrome
- p.His974Arg Single submitter STAG2-related disorder
- p.Ile191del Single submitter Mullegama-Klein-Martinez syndrome
- p.Leu226fs Single submitter Mullegama-Klein-Martinez syndrome
- p.Lys36Gln Single submitter ⚠
- p.Lys553fs Single submitter STAG2-related disorder
- p.Phe999Cys Single submitter
- p.Ser1075fs Single submitter holoprosencephaly 13, X-linked
- p.Thr149Ala Single submitter Mullegama-Klein-Martinez syndrome
- p.Trp315Arg Single submitter neurodevelopmental disorder
- p.Tyr159Cys Single submitter STAG2-related disorder
- p.Tyr159His Single submitter
- p.Tyr356Ter Single submitter holoprosencephaly 13, X-linked
Conflicting classifications of pathogenicity 8
- c.1822-16TAT[2] Single submitter
- p.Arg667Gln Single submitter Inborn genetic diseases ⚠
- p.Arg954Cys Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Gly206= Single submitter Mullegama-Klein-Martinez syndrome
- p.Met1057Val Single submitter Inborn genetic diseases ⚠
- p.Pro8Thr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ser1031Thr Single submitter Inborn genetic diseases ⚠
- p.Val1020Gly Single submitter ⚠
Benign 62
- c.1017+125T>A Multiple submitters
- c.1416+95A>G Multiple submitters
- c.1417-39A>C Multiple submitters Mullegama-Klein-Martinez syndrome
- c.2026-14A>T Multiple submitters
- c.894-9C>T Multiple submitters
- p.Gln1120= Multiple submitters
- p.Ile694= Multiple submitters
- c.1018-3del Single submitter
- c.1018-3dup Single submitter
- c.1117-9dup Single submitter
- c.1197-122dup Single submitter
- c.1197-123_1197-122dup Single submitter
- c.124-16C>T Single submitter
- c.124-7dup Single submitter
- c.1416+22dup Single submitter
- c.1417-207T>C Single submitter
- c.1535-13_1535-3del Single submitter
- c.1535-4_1535-3del Single submitter
- c.1535-4_1535-3dup Single submitter
- c.1732-20G>A Single submitter
- c.1821+25del Single submitter
- c.1821+25dup Single submitter
- c.1822-141T>C Single submitter
- c.1822-9A>G Single submitter
- c.2025+7A>G Single submitter
- c.2097-5del Single submitter
- c.2097-5dup Single submitter
- c.2097-6_2097-5del Single submitter
- c.2266-93_2266-92insATAT Single submitter
- c.2775+20A>C Single submitter
- c.289-14del Single submitter
- c.2924+19A>T Single submitter
- c.2925-214TG[9] Single submitter
- c.3053+128A>G Single submitter
- c.3054-15C>T Single submitter
- c.3277+12A>G Single submitter
- c.3784-18CT[7] Single submitter
- c.45-157A>G Single submitter
- c.463-3T>C Single submitter
- c.667+18T>C Single submitter
- c.819+196G>A Single submitter
- c.820-5dup Single submitter
- c.-97-145del Single submitter
- p.Ala478= Single submitter
- p.Asn1223= Single submitter
- p.Asp818Glu Single submitter
- p.Cys711Tyr Single submitter
- p.Gln352Glu Single submitter ⚠
- p.Gln744= Single submitter
- p.Glu403Asp Single submitter
- p.Glu642= Single submitter
- p.Leu351= Single submitter
- p.Leu673= Single submitter
- p.Leu716= Single submitter
- p.Lys258= Single submitter
- p.Pro538= Single submitter
- p.Ser1078Pro Single submitter
- p.Ser1181Gly Single submitter
- p.Val413= Single submitter
- p.Val620= Single submitter
- p.Val877= Single submitter
- c.2097-7_2097-5del No assertion criteria STAG2-related disorder
Benign/Likely benign 34
- c.123+4T>C Multiple submitters Inborn genetic diseases
- c.1535-12_1535-3del Multiple submitters Inborn genetic diseases
- c.1535-2dup Multiple submitters
- c.1535-3del Multiple submitters holoprosencephaly 13, X-linked
- c.1535-3T>A Multiple submitters
- c.1732-17A>G Multiple submitters
- c.1732-3C>T Multiple submitters Inborn genetic diseases
- c.1821+7T>C Multiple submitters
- c.2185-18C>G Multiple submitters
- c.2359-7del Multiple submitters
- c.3053+11G>T Multiple submitters
- c.3054-14G>A Multiple submitters
- c.3278-4C>T Multiple submitters
- c.3784-17T>C Multiple submitters
- c.3784-18CT[5] Multiple submitters Inborn genetic diseases
- c.3784-19C>T Multiple submitters
- c.386-8A>T Multiple submitters
- c.45-11T>C Multiple submitters holoprosencephaly 13, X-linked
- c.893+10G>C Multiple submitters
- c.893+21dup Multiple submitters
- p.Ala568= Multiple submitters
- p.Ala570Val Multiple submitters Inborn genetic diseases
- p.Ala981= Multiple submitters
- p.Arg617Trp Multiple submitters ⚠
- p.Asp338= Multiple submitters
- p.Glu1260Asp Multiple submitters
- p.Ile1060Val Multiple submitters Inborn genetic diseases
- p.Ile314Val Multiple submitters Inborn genetic diseases
- p.Leu830= Multiple submitters
- p.Lys363= Multiple submitters
- p.Phe367= Multiple submitters Mullegama-Klein-Martinez syndrome
- p.Ser853= Multiple submitters
- p.Ser943= Multiple submitters
- p.Val181Met Multiple submitters
Likely benign 280
- c.1018-11T>C Multiple submitters
- c.2097-18_2097-5del Multiple submitters
- c.2358+14A>G Multiple submitters
- c.2359-6A>G Multiple submitters
- c.3278-9C>A Multiple submitters
- c.3579-12A>G Multiple submitters
- c.385+14A>G Multiple submitters
- c.463-7G>A Multiple submitters intellectual disability
- p.Arg560Lys Multiple submitters
- p.Glu1023= Multiple submitters
- p.Ile1063= Multiple submitters
- p.Ile112Thr Multiple submitters Inborn genetic diseases
- p.Leu416= Multiple submitters
- p.Leu669= Multiple submitters
- p.Pro987= Multiple submitters
- p.Thr543= Multiple submitters
- p.Tyr636= Multiple submitters
- p.Val767= Multiple submitters
- c.1017+13del Single submitter
- c.1017+18G>A Single submitter
- c.1018-10T>G Single submitter
- c.1018-14_1018-13insG Single submitter
- c.1018-18T>C Single submitter
- c.1018-19T>C Single submitter
- c.1018-5_1018-3del Single submitter
- c.1018-6_1018-3del Single submitter
- c.1116+11_1116+14del Single submitter
- c.1117-16A>C Single submitter
- c.1196+18G>A Single submitter
- c.1197-12C>T Single submitter
- c.123+11A>C Single submitter
- c.123+13T>C Single submitter
- c.123+18G>A Single submitter
- c.123+7A>G Single submitter
- c.124-13A>G Single submitter
- c.124-15G>A Single submitter
- c.1304+11A>G Single submitter
- c.1304+12T>C Single submitter
- c.1304+16T>C Single submitter
- c.1304+7C>T Single submitter
- c.1304+9A>G Single submitter
- c.1305-11T>C Single submitter
- c.1305-11T>G Single submitter
- c.1305-15T>A Single submitter
- c.1305-18A>G Single submitter
- c.1416+12G>A Single submitter
- c.1416+12G>T Single submitter
- c.1416+15T>C Single submitter
- c.1416+8G>C Single submitter
- c.1417-18G>C Single submitter
- c.1417-20T>G Single submitter
- c.1534+16T>G Single submitter
- c.1534+18T>A Single submitter
- c.1534+18T>C Single submitter
- c.1534+20A>G Single submitter
- c.1534+9G>A Single submitter
- c.1535-11_1535-3del Single submitter
- c.1535-14_1535-3del Single submitter
- c.1535-15_1535-3del Single submitter
- c.1535-17_1535-3del Single submitter
- c.1535-6_1535-3dup Single submitter Mullegama-Klein-Martinez syndrome
- c.1535-8_1535-3del Single submitter
- c.1638+13A>G Single submitter
- c.1638+14T>C Single submitter
- c.1638+17C>T Single submitter
- c.1638+20T>C Single submitter
- c.1638+7C>A Single submitter
- c.1639-17T>A Single submitter
- c.1731+12T>A Single submitter
- c.1731+15A>G Single submitter
- c.1731+18T>C Single submitter
- c.1732-16T>A Single submitter
- c.1732-17A>T Single submitter
- c.1732-19T>G Single submitter
- c.1822-11T>C Single submitter
- c.2025+13A>T Single submitter
- c.2025+16A>G Single submitter
- c.2025+19A>G Single submitter
- c.2025+20C>T Single submitter
- c.2025+9T>C Single submitter
- c.2026-4A>G Single submitter
- c.2026-8A>G Single submitter
- c.2097-13_2097-5del Single submitter Inborn genetic diseases
- c.2097-15_2097-5del Single submitter
- c.2097-16_2097-5del Single submitter
- c.2097-20T>A Single submitter
- c.2097-4A>C Single submitter
- c.2097-4A>G Single submitter
- c.2097-4dup Single submitter
- c.2097-5T>A Single submitter
- c.2097-5T>C Single submitter
- c.2097-6T>C Single submitter
- c.2184+11A>T Single submitter
- c.2184+15G>A Single submitter
- c.2185-13A>G Single submitter
- c.2185-13A>T Single submitter
- c.2185-14_2185-12del Single submitter
- c.2185-19C>T Single submitter
- c.2185-4A>C Single submitter
- c.2265+10G>A Single submitter
- c.2265+18_2265+20del Single submitter
- c.2265+9T>C Single submitter
- c.2266-10T>C Single submitter
- c.2358+14A>T Single submitter
- c.2358+20G>A Single submitter
- c.2358+21del Single submitter
- c.2359-7T>A Single submitter
- c.2359-8_2359-7del Single submitter
- c.2533+16T>C Single submitter
- c.2533+17C>A Single submitter
- c.2533+19T>G Single submitter
- c.2673+10A>G Single submitter
- c.2775+10A>G Single submitter
- c.2775+11A>C Single submitter
- c.2775+18C>G Single submitter
- c.2776-10_2776-7del Single submitter
- c.2776-16C>A Single submitter
- c.2776-17T>G Single submitter
- c.2776-19T>C Single submitter
- c.2776-19T>G Single submitter
- c.289-11C>T Single submitter
- c.2924+18T>C Single submitter
- c.2925-4G>A Single submitter
- c.3054-5T>C Single submitter
- c.3277+20T>C Single submitter
- c.3278-15_3278-12del Single submitter
- c.3278-18G>A Single submitter
- c.3278-19C>T Single submitter
- c.3278-4C>A Single submitter
- c.3278-4C>G Single submitter Inborn genetic diseases
- c.3278-6_3278-5dup Single submitter
- c.3467+19T>C Single submitter
- c.3579-10A>G Single submitter
- c.3579-6C>T Single submitter
- c.3705+15G>T Single submitter
- c.3705+20C>T Single submitter
- c.3705+9C>T Single submitter
- c.3706-16T>C Single submitter
- c.3706-18T>C Single submitter
- c.3783+7T>G Single submitter
- c.3784-12C>T Single submitter
- c.3784-14C>G Single submitter
- c.3784-18CT[4] Single submitter
- c.3784-5A>G Single submitter
- c.3784-5A>T Single submitter
- c.3784-8C>T Single submitter
- c.385+9T>C Single submitter
- c.386-15A>T Single submitter
- c.44+10T>A Single submitter
- c.44+7A>G Single submitter
- c.45-15A>C Single submitter
- c.45-4A>G Single submitter
- c.462+19T>A Single submitter
- c.463-19T>C Single submitter
- c.667+7A>G Single submitter
- c.668-17_668-16dup Single submitter
- c.668-17T>C Single submitter
- c.819+13A>G Single submitter
- c.820-11T>G Single submitter
- c.820-12_820-11del Single submitter
- c.820-19A>G Single submitter
- c.820-6T>G Single submitter
- c.820-7T>G Single submitter
- c.893+7T>C Single submitter
- c.894-11C>T Single submitter
- c.894-6A>G Single submitter
- c.894-8C>T Single submitter
- p.Ala113= Single submitter
- p.Ala1178= Single submitter
- p.Ala133= Single submitter
- p.Ala300= Single submitter
- p.Ala390= Single submitter
- p.Ala532= Single submitter
- p.Ala611= Single submitter
- p.Ala638= Single submitter
- p.Ala733= Single submitter
- p.Ala866= Single submitter
- p.Ala867= Single submitter
- p.Ala956= Single submitter
- p.Ala971= Single submitter
- p.Arg1045= Single submitter
- p.Arg1082= Single submitter
- p.Arg252= Single submitter
- p.Arg370= Single submitter
- p.Arg422= Single submitter
- p.Asn240= Single submitter
- p.Asn243= Single submitter
- p.Asn34Lys Single submitter
- p.Asn666= Single submitter
- p.Asp109= Single submitter
- p.Asp1202= Single submitter
- p.Asp482= Single submitter
- p.Asp596= Single submitter
- p.Asp625= Single submitter
- p.Asp659= Single submitter
- p.Asp757= Single submitter
- p.Cys308= Single submitter
- p.Gln1145= Single submitter
- p.Gln185= Single submitter
- p.Gln187= Single submitter
- p.Gln593= Single submitter
- p.Glu104= Single submitter
- p.Glu1147= Single submitter
- p.Glu496= Single submitter
- p.Gly1051= Single submitter
- p.Gly1067= Single submitter
- p.Gly1264= Single submitter
- p.Gly180= Single submitter
- p.Gly291= Single submitter
- p.Gly542= Single submitter
- p.His536= Single submitter
- p.His732= Single submitter
- p.Ile30= Single submitter
- p.Ile720= Single submitter
- p.Ile885= Single submitter
- p.Ile931Leu Single submitter Inborn genetic diseases
- p.Leu1010= Single submitter
- p.Leu1049= Single submitter
- p.Leu1110= Single submitter
- p.Leu1132= Single submitter
- p.Leu1247= Single submitter
- p.Leu264= Single submitter
- p.Leu267= Single submitter
- p.Leu345= Single submitter
- p.Leu393= Single submitter
- p.Leu464= Single submitter
- p.Leu503= Single submitter
- p.Leu513= Single submitter
- p.Leu521= Single submitter
- p.Leu548= Single submitter
- p.Leu588= Single submitter
- p.Leu629= Single submitter
- p.Leu923= Single submitter
- p.Leu997= Single submitter
- p.Lys1009= Single submitter
- p.Lys1248= Single submitter
- p.Lys346= Single submitter
- p.Lys634= Single submitter
- p.Lys717= Single submitter
- p.Lys89= Single submitter
- p.Lys949= Single submitter
- p.Lys983= Single submitter
- p.Phe152= Single submitter
- p.Phe647= Single submitter
- p.Phe886= Single submitter
- p.Pro1077= Single submitter
- p.Pro1237= Single submitter
- p.Pro160= Single submitter
- p.Pro5= Single submitter
- p.Pro592= Single submitter
- p.Ser1101Ile Single submitter
- p.Ser142= Single submitter
- p.Ser210= Single submitter
- p.Ser22= Single submitter
- p.Ser362= Single submitter
- p.Ser483= Single submitter
- p.Ser689= Single submitter
- p.Ser753= Single submitter
- p.Ser941= Single submitter
- p.Ser942= Single submitter
- p.Ser97= Single submitter
- p.Thr1157= Single submitter
- p.Thr395= Single submitter
- p.Thr406= Single submitter
- p.Thr561= Single submitter
- p.Thr586= Single submitter
- p.Thr875= Single submitter
- p.Tyr331= Single submitter
- p.Tyr384= Single submitter
- p.Tyr594= Single submitter
- p.Val1037= Single submitter
- p.Val1208= Single submitter
- p.Val212= Single submitter
- p.Val376= Single submitter
- p.Val547= Single submitter
- p.Val650= Single submitter
- p.Val87= Single submitter
- p.Val873= Single submitter
- p.Val98= Single submitter
- c.1535-12_1535-3dup No assertion criteria STAG2-related disorder
Uncertain significance 339
Showing the top 300 by review status; the full set is in the sitemap.
- c.1018-3T>A Multiple submitters
- c.2924+3A>G Multiple submitters
- c.2924+5T>A Multiple submitters
- c.3784-3T>C Multiple submitters
- c.668-15_668-10del Multiple submitters Mullegama-Klein-Martinez syndrome
- p.Ala428Gly Multiple submitters ⚠
- p.Ala532Val Multiple submitters STAG2-related disorder ⚠
- p.Ala787Gly Multiple submitters Inborn genetic diseases
- p.Ala787Thr Multiple submitters Mullegama-Klein-Martinez syndrome ⚠
- p.Arg146Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg422Trp Multiple submitters ⚠
- p.Arg617Gln Multiple submitters STAG2-related disorder ⚠
- p.Arg667Trp Multiple submitters ⚠
- p.Arg760Cys Multiple submitters ⚠
- p.Asn261Ser Multiple submitters Mullegama-Klein-Martinez syndrome ⚠
- p.Asn618Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp651Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp840Asn Multiple submitters ⚠
- p.Asp850Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys772Ser Multiple submitters ⚠
- p.Gln1173Glu Multiple submitters Inborn genetic diseases
- p.Gly935Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ile288Val Multiple submitters ⚠
- p.Met1144Val Multiple submitters ⚠
- p.Met1180Val Multiple submitters holoprosencephaly 13, X-linked
- p.Met725Ile Multiple submitters ⚠
- p.Pro1113Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro726Ser Multiple submitters ⚠
- p.Pro817Ser Multiple submitters ⚠
- p.Ser1007Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser1140Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser633Cys Multiple submitters ⚠
- p.Ser97Leu Multiple submitters STAG2-related disorder ⚠
- p.Thr379Ile Multiple submitters Mullegama-Klein-Martinez syndrome ⚠
- p.Thr601Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr966Arg Multiple submitters ⚠
- p.Tyr433Cys Multiple submitters ⚠
- p.Val767Gly Multiple submitters ⚠
- c.1018-3_1018-2insTA Single submitter
- c.1304+5A>G Single submitter
- c.1304+5del Single submitter
- c.1416+9A>G Single submitter
- c.1535-3_1535-2insTA Single submitter
- c.1535-3_1535-2insTTA Single submitter
- c.1535-3_1535-2insTTTA Single submitter
- c.1638+7_1638+12delinsGATTGATC Single submitter
- c.1731+3A>G Single submitter
- c.2026-14A>G Single submitter
- c.2026-3T>C Single submitter
- c.2026-8dup Single submitter
- c.2096+3A>G Single submitter
- c.2096+6T>C Single submitter
- c.2097-19_2097-5del Single submitter
- c.2097-3C>A Single submitter Mullegama-Klein-Martinez syndrome
- c.2674-13A>G Single submitter
- c.2674-3T>C Single submitter
- c.3053+5G>A Single submitter
- c.3053+5G>T Single submitter holoprosencephaly 13, X-linked
- c.3054-3A>G Single submitter
- c.3277+6G>T Single submitter
- c.3278-3C>T Single submitter
- c.3705+6A>G Single submitter
- c.386-12T>G Single submitter
- c.463-5T>C Single submitter
- c.667+3C>T Single submitter
- c.820-1G>T Single submitter
- c.893+5G>T Single submitter
- c.-97-3A>G Single submitter
- p.Ala1164Val Single submitter
- p.Ala1178Gly Single submitter
- p.Ala1192= Single submitter
- p.Ala133Thr Single submitter ⚠
- p.Ala300Glu Single submitter Inborn genetic diseases ⚠
- p.Ala387Ser Single submitter Inborn genetic diseases ⚠
- p.Ala427Thr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ala51Gly Single submitter ⚠
- p.Ala520Gly Single submitter ⚠
- p.Ala550Val Single submitter ⚠
- p.Ala576Thr Single submitter ⚠
- p.Ala582Gly Single submitter ⚠
- p.Ala684Gly Single submitter Inborn genetic diseases ⚠
- p.Ala696Thr Single submitter STAG2-related disorder ⚠
- p.Ala700Val Single submitter ⚠
- p.Ala733Thr Single submitter ⚠
- p.Ala852Gly Single submitter ⚠
- p.Ala857Ser Single submitter ⚠
- p.Ala956Val Single submitter ⚠
- p.Arg1034Ile Single submitter ⚠
- p.Arg1045Gln Single submitter ⚠
- p.Arg1071Gln Single submitter ⚠
- p.Arg1071Trp Single submitter ⚠
- p.Arg1082Trp Single submitter ⚠
- p.Arg110Gln Single submitter ⚠
- p.Arg1195His Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg213Lys Single submitter ⚠
- p.Arg252Gln Single submitter ⚠
- p.Arg263Lys Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg271Trp Single submitter ⚠
- p.Arg298Cys Single submitter ⚠
- p.Arg344Lys Single submitter ⚠
- p.Arg439Cys Single submitter ⚠
- p.Arg439His Single submitter ⚠
- p.Arg516Lys Single submitter ⚠
- p.Arg560= Single submitter holoprosencephaly 13, X-linked
- p.Arg560Gly Single submitter ⚠
- p.Arg604Gln Single submitter STAG2-related disorder ⚠
- p.Arg604Pro Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Arg654Gly Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg760His Single submitter ⚠
- p.Arg807His Single submitter ⚠
- p.Arg862del Single submitter Mullegama-Klein-Martinez syndrome
- p.Asn1188Ser Single submitter
- p.Asn12Ser Single submitter ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asn459Ser Single submitter ⚠
- p.Asn587Asp Single submitter ⚠
- p.Asn641Lys Single submitter ⚠
- p.Asn712Ser Single submitter ⚠
- p.Asn778Asp Single submitter ⚠
- p.Asn841Asp Single submitter ⚠
- p.Asn842Ser Single submitter ⚠
- p.Asn894Ser Single submitter ⚠
- p.Asn928Ile Single submitter ⚠
- p.Asp101Tyr Single submitter ⚠
- p.Asp1055Gly Single submitter ⚠
- p.Asp111Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1136Val Single submitter ⚠
- p.Asp1154Asn Single submitter ⚠
- p.Asp1202Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1203Tyr Single submitter ⚠
- p.Asp1250Glu Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Asp155Glu Single submitter ⚠
- p.Asp209Gly Single submitter ⚠
- p.Asp26Tyr Single submitter ⚠
- p.Asp326His Single submitter ⚠
- p.Asp441Gly Single submitter Inborn genetic diseases ⚠
- p.Asp445Val Single submitter ⚠
- p.Asp627His Single submitter ⚠
- p.Asp659Asn Single submitter ⚠
- p.Asp707Gly Single submitter
- p.Asp724Gly Single submitter ⚠
- p.Asp757Tyr Single submitter ⚠
- p.Asp831Gly Single submitter ⚠
- p.Asp850Val Single submitter Inborn genetic diseases ⚠
- p.Asp884Asn Single submitter
- p.Asp976Glu Single submitter ⚠
- p.Asp976His Single submitter ⚠
- p.Cys632Ser Single submitter Mullegama-Klein-Martinez syndrome
- p.Cys640Ser Single submitter
- p.Cys736Arg Single submitter ⚠
- p.Cys736Ser Single submitter ⚠
- p.Gln1108Glu Single submitter ⚠
- p.Gln1167Arg Single submitter
- p.Gln1168Arg Single submitter
- p.Gln1175His Single submitter
- p.Gln123His Single submitter
- p.Gln167His Single submitter ⚠
- p.Gln211Glu Single submitter Inborn genetic diseases ⚠
- p.Gln352= Single submitter
- p.Gln590Glu Single submitter ⚠
- p.Gln770Arg Single submitter ⚠
- p.Gln924Arg Single submitter ⚠
- p.Glu104Gln Single submitter ⚠
- p.Glu1205Lys Single submitter ⚠
- p.Glu154Gly Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu342Lys Single submitter ⚠
- p.Glu443Gly Single submitter ⚠
- p.Glu472Gly Single submitter ⚠
- p.Glu660Lys Single submitter ⚠
- p.Glu721Lys Single submitter ⚠
- p.Glu824Ala Single submitter ⚠
- p.Glu902Gly Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Glu984Ala Single submitter ⚠
- p.Gly1062Val Single submitter ⚠
- p.Gly1087Ser Single submitter ⚠
- p.Gly157Arg Single submitter Inborn genetic diseases ⚠
- p.Gly38Val Single submitter ⚠
- p.Gly455Cys Single submitter ⚠
- p.Gly49Cys Single submitter ⚠
- p.Gly540Arg Single submitter ⚠
- p.Gly54Val Single submitter ⚠
- p.Gly56Ser Single submitter ⚠
- p.Gly676Asp Single submitter ⚠
- p.Gly846Ser Single submitter ⚠
- p.Gly846Val Single submitter ⚠
- p.Gly977Asp Single submitter ⚠
- p.His108Arg Single submitter ⚠
- p.His295Arg Single submitter Inborn genetic diseases ⚠
- p.His415Arg Single submitter ⚠
- p.His732Tyr Single submitter ⚠
- p.His832Arg Single submitter ⚠
- p.His859Tyr Single submitter ⚠
- p.His974Tyr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ile1002Thr Single submitter ⚠
- p.Ile1193Thr Single submitter
- p.Ile239Val Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ile2Thr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile375Asn Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Ile524Val Single submitter ⚠
- p.Ile529Val Single submitter ⚠
- p.Ile563Val Single submitter Inborn genetic diseases ⚠
- p.Ile729Val Single submitter ⚠
- p.Ile731Thr Single submitter ⚠
- p.Ile741Asn Single submitter ⚠
- p.Ile771Met Single submitter ⚠
- p.Ile794Thr Single submitter ⚠
- p.Ile794Val Single submitter ⚠
- p.Ile835Phe Single submitter ⚠
- p.Ile835Ser Single submitter
- p.Ile835Thr Single submitter ⚠
- p.Ile920Thr Single submitter ⚠
- p.Ile948Val Single submitter ⚠
- p.Leu1010_Leu1011delinsProPhe Single submitter
- p.Leu1092His Single submitter ⚠
- p.Leu115Val Single submitter
- p.Leu1222Pro Single submitter ⚠
- p.Leu14Gln Single submitter ⚠
- p.Leu226Met Single submitter ⚠
- p.Leu226Phe Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu266Gln Single submitter
- p.Leu432Ile Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Leu460Phe Single submitter ⚠
- p.Leu469= Single submitter
- p.Leu548Phe Single submitter ⚠
- p.Leu566Val Single submitter Inborn genetic diseases ⚠
- p.Leu574Val Single submitter ⚠
- p.Leu612= Single submitter
- p.Leu613Ser Single submitter ⚠
- p.Leu629Ser Single submitter Inborn genetic diseases ⚠
- p.Leu639Phe Single submitter ⚠
- p.Leu669Ile Single submitter ⚠
- p.Leu759Val Single submitter Inborn genetic diseases ⚠
- p.Leu919Val Single submitter ⚠
- p.Lys1009Glu Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Lys1073Arg Single submitter ⚠
- p.Lys254Thr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Lys290Gln Single submitter ⚠
- p.Lys33Arg Single submitter Inborn genetic diseases ⚠
- p.Lys47Gln Single submitter Inborn genetic diseases ⚠
- p.Lys48Arg Single submitter ⚠
- p.Lys551Glu Single submitter ⚠
- p.Lys55Arg Single submitter ⚠
- p.Lys562Glu Single submitter ⚠
- p.Lys607Asn Single submitter ⚠
- p.Lys692Arg Single submitter ⚠
- p.Lys714Arg Single submitter ⚠
- p.Lys762Arg Single submitter ⚠
- p.Lys860Asn Single submitter ⚠
- p.Met1088Leu Single submitter ⚠
- p.Met1102Ile Single submitter ⚠
- p.Met1115Thr Single submitter ⚠
- p.Met1115Val Single submitter ⚠
- p.Met1139Val Single submitter ⚠
- p.Met1226Ile Single submitter ⚠
- p.Met1231Val Single submitter ⚠
- p.Met224Thr Single submitter Mullegama-Klein-Martinez syndrome ⚠
- p.Met241Val Single submitter ⚠
- p.Met284Arg Single submitter ⚠
- p.Met447Ile Single submitter ⚠
- p.Met448Val Single submitter ⚠
- p.Met484Thr Single submitter ⚠
- p.Met525Thr Single submitter
- p.Met765Ile Single submitter ⚠
- p.Met765Thr Single submitter ⚠
- p.Met809Ile Single submitter ⚠
- p.Met83Leu Single submitter ⚠
- p.Met890Ile Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Met95Val Single submitter Inborn genetic diseases ⚠
- p.Phe1006Leu Single submitter ⚠
- p.Phe121Leu Single submitter holoprosencephaly 13, X-linked ⚠
- p.Phe798Cys Single submitter ⚠
- p.Phe955Leu Single submitter ⚠
- p.Pro1236Ser Single submitter Inborn genetic diseases ⚠
- p.Pro166Ser Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro726Thr Single submitter ⚠
- p.Pro812Leu Single submitter ⚠
- p.Pro817Ala Single submitter ⚠
- p.Ser1004Asn Single submitter ⚠
- p.Ser1068Pro Single submitter ⚠
- p.Ser1078Ala Single submitter ⚠
- p.Ser1101Asn Single submitter ⚠
- p.Ser1137Asn Single submitter ⚠
- p.Ser401Asn Single submitter ⚠
- p.Ser579Thr Single submitter ⚠
- p.Ser65del Single submitter
- p.Ser819Cys Single submitter ⚠
- p.Ser946Ile Single submitter ⚠
- p.Thr1027Asn Single submitter ⚠
- p.Thr1124Ala Single submitter ⚠
- p.Thr1245Ile Single submitter ⚠
- p.Thr132Ala Single submitter ⚠