GLI2 — 1349 ClinVar variants

All ClinVar germline GLI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 655 flagged for review →

45 Pathogenic · 4 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 77 Conflicting · 61 Benign · 57 Benign/Likely benign · 350 Likely benign · 706 Uncertain significance

Full GLI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 655

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

GLI2 p.Thr1535Ser Likely pathogenic No assertion criteria
holoprosencephaly 9

Predictors agree, ClinVar conflicts 46

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

GLI2 p.Ala1003Pro Conflicting Single submitter
GLI2-related disorder
GLI2 p.Ala1104Pro Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Ala1419Thr Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ala203Thr Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ala23Thr Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ala697Thr Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Arg102Gln Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg131His Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Arg1365His Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Arg499Leu Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg703His Conflicting Single submitter
holoprosencephaly 1
GLI2 p.Asn1099Lys Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Asp1464Glu Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Asp688Asn Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gln1433His Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Glu1270Asp Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly1109Glu Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Gly1173Val Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Gly1198Ser Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Gly1294Ala Conflicting Single submitter
Weaver syndrome
GLI2 p.Gly1383Cys Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Gly553Ala Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Gly731Arg Conflicting Single submitter
holoprosencephaly 9
GLI2 p.His74Arg Conflicting Single submitter
Inborn genetic diseases
GLI2 p.His74Tyr Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Leu324Pro Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Lys30Gln Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Met1224Ile Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Phe323Ser Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro107Leu Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Pro120Leu Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Pro1414Leu Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Pro732Gln Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Pro829Leu Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro980Arg Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ser1098Phe Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Ser1448Asn Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ser531Leu Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Ser728Leu Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Thr138Met Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Thr172Asn Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Thr393Met Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Thr603Met Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Thr669Ser Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Val37Met Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Val626Ile Conflicting Single submitter
holoprosencephaly 9

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

GLI2 p.Ala108fs Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gln48Ter Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 529

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 529

GLI2 c.1183-33G>A Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Ala1139Val Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala1162Thr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala151Thr Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala40Thr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala40Val Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala47Val Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala60Glu Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala799Ser Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala835Thr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala901Val Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ala944Val Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg1191Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Arg1281His Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg1283Gly Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg1367His Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg1370Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Arg1531Gln Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg406Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Arg462Trp Uncertain significance Multiple submitters
GLI2 p.Arg499His Uncertain significance Multiple submitters
GLI2 p.Arg499Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Arg508Trp Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg589His Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg703Cys Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg711Trp Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg737Pro Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg897Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Arg897Trp Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Arg957Pro Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Arg958Trp Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Asn1123Asp Uncertain significance Multiple submitters
GLI2 p.Asn1124Ile Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Asn1280Ser Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Asn1532Tyr Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Asn421Ser Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Asn768Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Asp1496Asn Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Asp725Glu Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Asp986Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Asp999Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Cys1110Tyr Uncertain significance Multiple submitters
GLI2 p.Gln1216Arg Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Gln1374His Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gln1478His Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Gln1492His Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Gln303Pro Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Gln854Arg Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Glu11Lys Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Glu1284Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Glu444Lys Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Glu483Lys Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Glu491Ala Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Glu544Lys Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Glu612Lys Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Glu621Lys Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly1343Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Gly1447Arg Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly191Arg Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Gly271Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Gly607Ser Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly635Arg Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly748Ser Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Gly756Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Gly82Ser Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Gly858Ser Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly890Asp Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Gly91Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.His1227Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.His1234Pro Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.His1262Tyr Uncertain significance Multiple submitters
benign neoplasm of eye
GLI2 p.His506Gln Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.His59Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Ile19Asn Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ile317Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Leu1140Val Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Leu1326Phe Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Leu1376Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Leu20Val Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Leu281Ile Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Leu692Pro Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Lys1145Arg Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Lys465Thr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Lys721Arg Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Lys721Gln Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Met329Val Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Met66Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Pro1012Leu Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro1039Leu Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro1085Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Pro1296Thr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Pro1468Ala Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro167Ser Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Pro189Leu Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Pro288Ser Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Pro51Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Pro884Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Ser1013Gly Uncertain significance Multiple submitters
GLI2 p.Ser1118Tyr Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ser272Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Ser633Arg Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ser648Gly Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr1184Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr1222Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr1276Ala Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Thr1395Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr1395Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr337Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr379Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr393Ala Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Thr3Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Thr511Asn Uncertain significance Multiple submitters
GLI2 p.Thr669Met Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Thr689Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Tyr1204Asp Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Tyr497Ser Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Tyr547Asp Uncertain significance Multiple submitters
GLI2 p.Tyr558His Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Val1323Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Val664Met Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Val802Met Uncertain significance Multiple submitters
pituitary stalk interruption syndrome
GLI2 p.Val83Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 c.1183-12C>T Uncertain significance Single submitter
holoprosencephaly 9
GLI2 c.1183-2A>G Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 c.1183-50G>A Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Ala1003Val Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala1019Val Uncertain significance Single submitter
GLI2 p.Ala1095Gly Uncertain significance Single submitter
GLI2 p.Ala1096Thr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala117Gly Uncertain significance Single submitter
GLI2 p.Ala1293Ser Uncertain significance Single submitter
GLI2 p.Ala1347Thr Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala1379Pro Uncertain significance Single submitter
GLI2 p.Ala1461Thr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala1490Gly Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Ala1490Ser Uncertain significance Single submitter
GLI2 p.Ala1490Thr Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Ala1511Val Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala151Pro Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala1541Thr Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala1559Pro Uncertain significance Single submitter
GLI2-related disorder
GLI2 p.Ala188Thr Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Ala241Thr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala278Gly Uncertain significance Single submitter
GLI2 p.Ala32Ser Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala32Thr Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala330Thr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ala413Gly Uncertain significance Single submitter
GLI2-related disorder
GLI2 p.Ala459Pro Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ala469Val Uncertain significance Single submitter

Predictors split 77

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

GLI2 p.His119Asp Uncertain significance Multiple submitters
GLI2 p.Leu751Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Phe813Leu Likely benign Multiple submitters
holoprosencephaly 9
GLI2 p.Pro889Leu Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Ser255Leu Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ser818Cys Uncertain significance Multiple submitters
GLI2-related disorder
GLI2 p.Thr224Met Uncertain significance Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Thr461Met Uncertain significance Multiple submitters
holoprosencephaly 9
GLI2 p.Thr489Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Tyr273Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Val257Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLI2 p.Ala530Val Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Ala901Glu Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Arg217Gly Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Arg222Gly Uncertain significance Single submitter
GLI2 p.Arg229His Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Arg231Gln Uncertain significance Single submitter
GLI2 p.Arg374Cys Conflicting Single submitter
Inborn genetic diseases
GLI2 p.Arg456Cys Uncertain significance Single submitter
GLI2 p.Arg456His Conflicting Single submitter
holoprosencephaly 9
GLI2 p.Arg456Leu Uncertain significance Single submitter
GLI2 p.Arg804His Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Arg805His Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Arg893Leu Uncertain significance Single submitter
GLI2 p.Asn1130His Uncertain significance Single submitter
GLI2 p.Asn261Tyr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Asn421Lys Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Asp1496His Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Asp214Tyr Uncertain significance Single submitter
GLI2 p.Asp790Gly Uncertain significance Single submitter
GLI2 p.Asp839Asn Uncertain significance Single submitter
GLI2 p.Gln1128His Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Gln434Glu Uncertain significance Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Glu112Lys Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Glu430Gln Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Gly1510Arg Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Gly307Arg Likely benign Single submitter
GLI2 p.Gly748Ala Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Gly857Arg Uncertain significance Single submitter
GLI2 p.Ile249Thr Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Leu100Trp Uncertain significance Single submitter
GLI2 p.Leu238Pro Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Leu785Gln Uncertain significance Single submitter
GLI2 p.Lys373Gln Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Lys630Asn Uncertain significance Single submitter
GLI2 p.Met1554Thr Uncertain significance Single submitter
holoprosencephaly 9
GLI2 p.Phe218Cys Uncertain significance Single submitter
GLI2 p.Phe218Ser Uncertain significance Single submitter
GLI2 p.Phe58Leu Uncertain significance Single submitter
GLI2 p.Pro225Ala Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Pro253Ser Uncertain significance Single submitter
GLI2 p.Pro63Leu Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Pro811Leu Uncertain significance Single submitter
GLI2 p.Pro866Leu Uncertain significance Single submitter
GLI2 p.Pro884Leu Uncertain significance Single submitter
GLI2-related disorder
GLI2 p.Pro887Ser Uncertain significance Single submitter
GLI2 p.Ser149Arg Uncertain significance Single submitter
GLI2 p.Ser234Pro Uncertain significance Single submitter
GLI2 p.Ser301Arg Uncertain significance Single submitter
GLI2 p.Ser358Arg Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Ser494Leu Conflicting Single submitter
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
GLI2 p.Ser842Phe Uncertain significance Single submitter
GLI2 p.Ser90Arg Uncertain significance Single submitter
GLI2 p.Ser92Arg Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Thr1136Ile Uncertain significance Single submitter
GLI2 p.Thr795Ala Uncertain significance Single submitter
GLI2 p.Thr865Ser Uncertain significance Single submitter
arteriovenous malformations of the brain
GLI2 p.Tyr418Cys Conflicting Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
GLI2 p.Tyr418His Uncertain significance Single submitter
GLI2 p.Tyr73His Uncertain significance Single submitter
GLI2 p.Tyr800His Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Tyr870His Uncertain significance Single submitter
GLI2 p.Val1479Leu Uncertain significance Single submitter
Inborn genetic diseases
GLI2 p.Val294Glu Uncertain significance Single submitter
GLI2 p.Asn659Lys Uncertain significance No assertion criteria
GLI2-related disorder
GLI2 p.Glu778Lys Uncertain significance No assertion criteria
GLI2-related disorder
GLI2 p.Ser135Arg Uncertain significance No assertion criteria
GLI2-related disorder

All GLI2 variants

Pathogenic 45

p.Arg264Ter Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp65Ter Multiple submitters Inborn genetic diseases
c.1905+1G>T Single submitter Developmental disorder
c.457+1G>A Single submitter
c.845+1G>C Single submitter
p.Ala188fs Single submitter Inborn genetic diseases
p.Ala763fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg264fs Single submitter holoprosencephaly 9
p.Arg533fs Single submitter Inborn genetic diseases
p.Arg770fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gln1175Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gln1189fs Single submitter holoprosencephaly 9
p.Gln1206Ter Single submitter
p.Gln155Ter Single submitter Inborn genetic diseases
p.Gln302Ter Single submitter holoprosencephaly 9
p.Gln470Ter Single submitter
p.Glu519Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly573fs Single submitter Inborn genetic diseases
p.Ile1199fs Single submitter GLI2-related disorder
p.Leu1120fs Single submitter GLI2-related disorder
p.Leu785fs Single submitter
p.Leu918fs Single submitter
p.Lys465Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Lys504delinsArgAlaAlaArgArgProThrProAlaTrpArgThrTer Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro884fs Single submitter holoprosencephaly 9
p.Ser1103fs Single submitter GLI2-related disorder
p.Ser17fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser266fs Single submitter GLI2-related disorder
p.Ser4fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser645Ter Single submitter holoprosencephaly 9
p.Ser819fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser837fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr780fs Single submitter Cerebellar cyst
p.Trp1129Ter Single submitter intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
p.Tyr1437Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Tyr558Ter Single submitter holoprosencephaly 9
p.Arg462Gly No assertion criteria holoprosencephaly 9
p.Gln297fs No assertion criteria holoprosencephaly 9
p.Glu380Ter No assertion criteria postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.His289fs No assertion criteria holoprosencephaly 9
p.Leu677fs No assertion criteria postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu771fs No assertion criteria postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser755fs No assertion criteria postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1071fs No assertion criteria holoprosencephaly 9
p.Trp424Ter No assertion criteria holoprosencephaly 9

Pathogenic/Likely pathogenic 4

c.1905+1G>A Multiple submitters holoprosencephaly 9
p.Arg1209Ter Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu55fs Multiple submitters holoprosencephaly 9
p.Trp457Ter Multiple submitters holoprosencephaly 9

Likely pathogenic 49

c.1060-2A>C Multiple submitters GLI2-related disorder
c.1183-45del Multiple submitters holoprosencephaly 9
p.Arg67Ter Multiple submitters GLI2-related disorder
c.149-877_238del Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.254+1G>T Single submitter holoprosencephaly 9
c.458-2A>G Single submitter holoprosencephaly 9
p.Ala117fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala1213fs Single submitter Inborn genetic diseases
p.Ala15fs Single submitter GLI2-related disorder
p.Ala370fs Single submitter holoprosencephaly 9
p.Ala534Thr Single submitter craniosynostosis
p.Ala88fs Single submitter
p.Arg1355fs Single submitter GLI2-related disorder
p.Arg1531Ter Single submitter
p.Arg479Ter Single submitter Autosomal dominant GLI2-related disorders
p.Arg847fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp27fs Single submitter
p.Asp839fs Single submitter combined pituitary hormone deficiencies, genetic form
p.Asp999fs Single submitter holoprosencephaly 9
p.Gln1111Ter Single submitter
p.Gln1151fs Single submitter Inborn genetic diseases
p.Gln1165Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gln1172Ter Single submitter GLI2-related disorder
p.Gln179Ter Single submitter holoprosencephaly 9
p.Glu11Ter Single submitter holoprosencephaly 9
p.Glu449fs Single submitter holoprosencephaly 9
p.Glu463fs Single submitter GLI2-related disorder
p.Glu463Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Glu76Ter Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly29fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.His119fs Single submitter
p.His207fs Single submitter GLI2-related disorder
p.His476Arg Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu103fs Single submitter holoprosencephaly 9
p.Leu1043fs Single submitter holoprosencephaly 9
p.Leu1082fs Single submitter GLI2-related disorder
p.Leu1181fs Single submitter
p.Leu233fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu35fs Single submitter
p.Lys465fs Single submitter
p.Lys484fs Single submitter holoprosencephaly 9
p.Lys630fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser301fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Val1476del Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala200fs No assertion criteria microform holoprosencephaly
p.Ser673fs No assertion criteria microform holoprosencephaly
p.Ter1570Tyr No assertion criteria microform holoprosencephaly
p.Thr1535Ser No assertion criteria holoprosencephaly 9 ⚠
p.Trp729Ter No assertion criteria microform holoprosencephaly

Conflicting classifications of pathogenicity 77

c.*285G>A Single submitter holoprosencephaly 9
p.Ala1003Pro Single submitter GLI2-related disorder ⚠
p.Ala1022= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala108fs Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala1104Pro Single submitter holoprosencephaly 9 ⚠
p.Ala1419Thr Single submitter Inborn genetic diseases ⚠
p.Ala203Thr Single submitter Inborn genetic diseases ⚠
p.Ala23Thr Single submitter Inborn genetic diseases ⚠
p.Ala44= Single submitter holoprosencephaly 9
p.Ala496Ser Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala697Thr Single submitter holoprosencephaly 9 ⚠
p.Arg102Gln Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg131His Single submitter Inborn genetic diseases ⚠
p.Arg1365His Single submitter Inborn genetic diseases ⚠
p.Arg217Cys Single submitter Inborn genetic diseases
p.Arg217Gly Single submitter Inborn genetic diseases ⚠
p.Arg374Cys Single submitter Inborn genetic diseases ⚠
p.Arg456His Single submitter holoprosencephaly 9 ⚠
p.Arg499Leu Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg703His Single submitter holoprosencephaly 1 ⚠
p.Asn1099Lys Single submitter Inborn genetic diseases ⚠
p.Asp1464Glu Single submitter holoprosencephaly 9 ⚠
p.Asp688Asn Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gln1338= Single submitter holoprosencephaly 9
p.Gln1433His Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gln48Ter Single submitter Inborn genetic diseases ⚠
p.Glu1270Asp Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly1109Glu Single submitter Inborn genetic diseases ⚠
p.Gly1173Val Single submitter holoprosencephaly 9 ⚠
p.Gly1198Ser Single submitter Inborn genetic diseases ⚠
p.Gly1294Ala Single submitter Weaver syndrome ⚠
p.Gly1383Cys Single submitter holoprosencephaly 9 ⚠
p.Gly1502= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly553Ala Single submitter holoprosencephaly 9 ⚠
p.Gly731Arg Single submitter holoprosencephaly 9 ⚠
p.Gly85Arg Single submitter holoprosencephaly 9
p.His567= Single submitter holoprosencephaly 9
p.His625= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.His74Arg Single submitter Inborn genetic diseases ⚠
p.His74Tyr Single submitter holoprosencephaly 9 ⚠
p.Leu1140= Single submitter holoprosencephaly 9
p.Leu324Pro Single submitter Inborn genetic diseases ⚠
p.Leu751= Single submitter holoprosencephaly 9
p.Leu962= Single submitter holoprosencephaly 9
p.Lys30Gln Single submitter holoprosencephaly 9 ⚠
p.Met1224Ile Single submitter holoprosencephaly 9 ⚠
p.Phe323Ser Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro107Leu Single submitter Inborn genetic diseases ⚠
p.Pro120Leu Single submitter holoprosencephaly 9 ⚠
p.Pro1414Leu Single submitter Inborn genetic diseases ⚠
p.Pro221Ser Single submitter holoprosencephaly 9
p.Pro293= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro63= Single submitter holoprosencephaly 9
p.Pro732Gln Single submitter Inborn genetic diseases ⚠
p.Pro829Leu Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro866= Single submitter holoprosencephaly 9
p.Pro955= Single submitter holoprosencephaly 9
p.Pro980Arg Single submitter Inborn genetic diseases ⚠
p.Ser1098Phe Single submitter holoprosencephaly 9 ⚠
p.Ser1448Asn Single submitter Inborn genetic diseases ⚠
p.Ser1524Tyr Single submitter holoprosencephaly 9
p.Ser202= Single submitter holoprosencephaly 9
p.Ser360= Single submitter holoprosencephaly 9
p.Ser494Leu Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ser531Leu Single submitter Inborn genetic diseases ⚠
p.Ser728Leu Single submitter holoprosencephaly 9 ⚠
p.Thr138Met Single submitter holoprosencephaly 9 ⚠
p.Thr172Asn Single submitter holoprosencephaly 9 ⚠
p.Thr393Met Single submitter Inborn genetic diseases ⚠
p.Thr489= Single submitter holoprosencephaly 9
p.Thr603Met Single submitter holoprosencephaly 9 ⚠
p.Thr669Ser Single submitter holoprosencephaly 9 ⚠
p.Thr736= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Tyr1431= Single submitter holoprosencephaly 9
p.Tyr418Cys Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation ⚠
p.Val37Met Single submitter Inborn genetic diseases ⚠
p.Val626Ile Single submitter holoprosencephaly 9 ⚠

Benign 61

c.1060-157T>C Multiple submitters
c.1060-194A>G Multiple submitters
c.1060-22T>C Multiple submitters
c.1060-27C>T Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1182+47T>C Multiple submitters
c.1183-126C>T Multiple submitters
c.1468-102C>T Multiple submitters
c.1468-98T>G Multiple submitters
c.149-274C>G Multiple submitters holoprosencephaly 1
c.1632+49C>T Multiple submitters
c.1633-17C>T Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.2242+270A>G Multiple submitters
c.2242+35A>G Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.254+66C>T Multiple submitters
c.255-156A>G Multiple submitters
c.457+70G>A Multiple submitters
c.458-92C>T Multiple submitters
c.643+16C>G Multiple submitters holoprosencephaly 9
c.643+24G>A Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.643+35T>C Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.-30-117A>G Multiple submitters
c.*1375A>C Multiple submitters holoprosencephaly 9
c.*1826T>G Multiple submitters holoprosencephaly 9
c.*816G>C Multiple submitters holoprosencephaly 9
p.Ala1139Ser Multiple submitters holoprosencephaly 9
p.Asp1289Asn Multiple submitters holoprosencephaly 9
p.Asp999= Multiple submitters holoprosencephaly 9
p.Met1427_Leu1428delinsIlePhe Multiple submitters holoprosencephaly 9
p.Pro1296= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser267= Multiple submitters holoprosencephaly 9
p.Thr1277= Multiple submitters holoprosencephaly 9
c.1060-341C>G Single submitter
c.1182+211A>G Single submitter
c.1182+292G>C Single submitter
c.1182+331T>C Single submitter
c.1183-195GT[11] Single submitter
c.1468-272_1468-271del Single submitter
c.1468-312A>G Single submitter
c.148+194_148+196dup Single submitter
c.1632+287C>T Single submitter
c.1633-204A>G Single submitter
c.1633-236C>T Single submitter
c.1633-285G>A Single submitter
c.1906-158T>C Single submitter
c.254+175A>G Single submitter
c.254+211G>A Single submitter
c.255-223C>T Single submitter
c.255-230G>A Single submitter
c.255-235C>T Single submitter
c.458-65_458-64del Single submitter
c.458-92del Single submitter
c.643+197G>A Single submitter
c.644-245G>A Single submitter
c.846-127G>A Single submitter
c.846-216A>G Single submitter
c.-1G>C Single submitter holoprosencephaly 9
c.-30-214A>C Single submitter
c.*1785A>G Single submitter holoprosencephaly 9
c.*1895G>A Single submitter holoprosencephaly 9
c.*42C>T Single submitter holoprosencephaly 9
p.Ser696= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Benign/Likely benign 57

c.148+14C>T Multiple submitters holoprosencephaly 9
c.148+5T>C Multiple submitters Inborn genetic diseases
c.1632+11G>A Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.2243-4G>A Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.255-17G>T Multiple submitters holoprosencephaly 9
c.-7G>A Multiple submitters holoprosencephaly 9
c.*419C>T Multiple submitters holoprosencephaly 9
p.Ala1403Gly Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala1559= Multiple submitters holoprosencephaly 9
p.Ala22= Multiple submitters holoprosencephaly 9
p.Ala268Val Multiple submitters holoprosencephaly 9
p.Ala43= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala44Val Multiple submitters holoprosencephaly 9
p.Ala679= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg1526His Multiple submitters holoprosencephaly 9
p.Arg737= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asn116= Multiple submitters holoprosencephaly 9
p.Asn584Ser Multiple submitters holoprosencephaly 9
p.Asp1041= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp1503Asn Multiple submitters holoprosencephaly 9
p.Asp1503Glu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp240= Multiple submitters holoprosencephaly 9
p.Asp97= Multiple submitters holoprosencephaly 9
p.Cys554= Multiple submitters holoprosencephaly 9
p.Gln1159His Multiple submitters holoprosencephaly 9
p.Gly1180Asp Multiple submitters holoprosencephaly 9
p.Gly1510= Multiple submitters holoprosencephaly 9
p.Gly199Ser Multiple submitters holoprosencephaly 9
p.Gly606= Multiple submitters holoprosencephaly 9
p.Gly989= Multiple submitters holoprosencephaly 9
p.Leu1327= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu1428Phe Multiple submitters holoprosencephaly 9
p.Leu182= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Met1335Val Multiple submitters holoprosencephaly 9
p.Met1386Val Multiple submitters holoprosencephaly 9
p.Met1427Ile Multiple submitters holoprosencephaly 9
p.Phe712= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Phe712Leu Multiple submitters Inborn genetic diseases
p.Pro1298Ser Multiple submitters holoprosencephaly 9
p.Pro1390= Multiple submitters holoprosencephaly 9
p.Pro321= Multiple submitters holoprosencephaly 9
p.Ser1538Pro Multiple submitters holoprosencephaly 9
p.Ser645= Multiple submitters holoprosencephaly 9
p.Ser649= Multiple submitters holoprosencephaly 9
p.Ser963= Multiple submitters holoprosencephaly 9
p.Thr1184= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1482= Multiple submitters holoprosencephaly 9
p.Thr420= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr461= Multiple submitters holoprosencephaly 9
p.Thr481= Multiple submitters
p.Thr570= Multiple submitters holoprosencephaly 9
p.Thr631= Multiple submitters holoprosencephaly 9
p.Thr733= Multiple submitters holoprosencephaly 9
p.Thr886Ser Multiple submitters Inborn genetic diseases
p.Val1100Leu Multiple submitters holoprosencephaly 9
p.Val1137Ile Multiple submitters holoprosencephaly 9
p.Val415Met Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Likely benign 350

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

c.1183-68C>T Multiple submitters holoprosencephaly 9
c.1317+25C>T Multiple submitters
c.1468-12G>A Multiple submitters holoprosencephaly 9
c.148+15G>A Multiple submitters holoprosencephaly 9
c.1632+37G>A Multiple submitters
c.1633-4C>G Multiple submitters holoprosencephaly 9
c.1633-5C>T Multiple submitters holoprosencephaly 9
c.1905+12T>C Multiple submitters holoprosencephaly 9
c.1905+7G>A Multiple submitters holoprosencephaly 9
c.254+32C>T Multiple submitters
c.457+99C>T Multiple submitters
c.643+16C>A Multiple submitters holoprosencephaly 9
c.644-139A>C Multiple submitters
c.845+10G>A Multiple submitters holoprosencephaly 9
c.845+14G>A Multiple submitters holoprosencephaly 9
c.845+17A>G Multiple submitters holoprosencephaly 9
c.846-18G>A Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.-30-97G>T Multiple submitters
c.*118C>T Multiple submitters holoprosencephaly 9
c.*31G>A Multiple submitters holoprosencephaly 9
p.Ala1030= Multiple submitters holoprosencephaly 9
p.Ala1155= Multiple submitters Inborn genetic diseases
p.Ala1379Thr Multiple submitters holoprosencephaly 9
p.Ala200Thr Multiple submitters holoprosencephaly 9
p.Ala268= Multiple submitters holoprosencephaly 9
p.Ala391= Multiple submitters holoprosencephaly 9
p.Ala40= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala619= Multiple submitters Inborn genetic diseases
p.Ala952Gly Multiple submitters holoprosencephaly 9
p.Ala961= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg1191His Multiple submitters holoprosencephaly 9
p.Arg1355Gln Multiple submitters Inborn genetic diseases
p.Arg231= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asn1445= Multiple submitters
p.Asn443= Multiple submitters
p.Asn863Lys Multiple submitters Inborn genetic diseases
p.Asp1418= Multiple submitters holoprosencephaly 9
p.Asp1418Glu Multiple submitters Inborn genetic diseases
p.Asp585= Multiple submitters holoprosencephaly 9
p.Gln644= Multiple submitters holoprosencephaly 9
p.Glu1560Lys Multiple submitters holoprosencephaly 9
p.Glu491Lys Multiple submitters Inborn genetic diseases
p.Gly1420Ser Multiple submitters holoprosencephaly 9
p.Gly165= Multiple submitters holoprosencephaly 9
p.Gly199= Multiple submitters
p.Gly935Ala Multiple submitters Inborn genetic diseases
p.His447= Multiple submitters holoprosencephaly 9
p.His81= Multiple submitters holoprosencephaly 9
p.His84= Multiple submitters holoprosencephaly 9
p.Leu1188= Multiple submitters holoprosencephaly 9
p.Leu1358Pro Multiple submitters holoprosencephaly 9
p.Lys630= Multiple submitters holoprosencephaly 9
p.Phe1163= Multiple submitters holoprosencephaly 9
p.Phe813Leu Multiple submitters holoprosencephaly 9 ⚠
p.Pro1085= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro1414= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro1491= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro26= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro56= Multiple submitters holoprosencephaly 9
p.Pro671= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro889= Multiple submitters holoprosencephaly 9
p.Pro983= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser1103= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser1192Ile Multiple submitters holoprosencephaly 9
p.Ser1505= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1071= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr224= Multiple submitters holoprosencephaly 9
p.Thr3= Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr365= Multiple submitters holoprosencephaly 9
p.Thr393= Multiple submitters holoprosencephaly 9
p.Thr611= Multiple submitters holoprosencephaly 9
p.Thr678= Multiple submitters holoprosencephaly 9
p.Thr898= Multiple submitters holoprosencephaly 9
p.Val1344Leu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Val213Met Multiple submitters holoprosencephaly 9
p.Val369Ala Multiple submitters Inborn genetic diseases
c.1059+11G>T Single submitter
c.1059+20A>G Single submitter holoprosencephaly 9
c.1059+8G>A Single submitter holoprosencephaly 9
c.1060-12A>G Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1060-18C>T Single submitter holoprosencephaly 9
c.1182+292G>A Single submitter
c.1183-34C>T Single submitter
c.1183-4C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1183-64G>A Single submitter holoprosencephaly 9
c.1183-65C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1183-6T>C Single submitter Inborn genetic diseases
c.1317+40G>A Single submitter
c.1318-14T>C Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1318-18G>T Single submitter
c.1467+9C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1468-13C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1468-200C>T Single submitter
c.148+12T>A Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.148+143G>A Single submitter
c.148+1G>A Single submitter holoprosencephaly 9
c.148+20C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.148+4C>T Single submitter
c.149-16C>T Single submitter
c.1632+10C>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1632+16A>T Single submitter
c.1632+19C>T Single submitter
c.1632+36G>A Single submitter
c.1633-14G>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1633-15T>C Single submitter
c.1633-19G>A Single submitter
c.1906-11G>A Single submitter holoprosencephaly 9
c.1906-12C>T Single submitter holoprosencephaly 9
c.2242+18G>T Single submitter holoprosencephaly 9
c.2243-303A>C Single submitter
c.2243-6C>A Single submitter
c.254+16T>C Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.254+17G>A Single submitter
c.255-202del Single submitter
c.458-64del Single submitter
c.643+15_643+16delinsTG Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.643+15C>T Single submitter
c.643+8C>T Single submitter
c.644-11C>T Single submitter holoprosencephaly 9
c.644-28G>C Single submitter
c.845+291T>G Single submitter
c.845+6C>T Single submitter
c.846-23T>A Single submitter
c.-30-311T>C Single submitter
c.-8C>T Single submitter
c.*1029C>T Single submitter holoprosencephaly 9
c.*1837_*1840dup Single submitter
c.*569T>A Single submitter holoprosencephaly 9
c.*963A>T Single submitter holoprosencephaly 9
p.Ala1003= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala1024= Single submitter holoprosencephaly 9
p.Ala1141= Single submitter holoprosencephaly 9
p.Ala1272= Single submitter
p.Ala1293= Single submitter holoprosencephaly 9
p.Ala188= Single submitter holoprosencephaly 9
p.Ala188Val Single submitter holoprosencephaly 9
p.Ala232= Single submitter holoprosencephaly 9
p.Ala23Ser Single submitter
p.Ala280Thr Single submitter Inborn genetic diseases
p.Ala361= Single submitter holoprosencephaly 9
p.Ala41= Single submitter holoprosencephaly 9
p.Ala46Thr Single submitter
p.Ala526Gly Single submitter holoprosencephaly 9
p.Ala60Thr Single submitter
p.Ala643= Single submitter holoprosencephaly 9
p.Ala687= Single submitter holoprosencephaly 9
p.Ala730= Single submitter holoprosencephaly 9
p.Ala877= Single submitter holoprosencephaly 9
p.Ala905= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ala912= Single submitter
p.Ala912Ser Single submitter Inborn genetic diseases
p.Arg1081Lys Single submitter Inborn genetic diseases
p.Arg1201= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg1281Cys Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg1370= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg217His Single submitter Inborn genetic diseases
p.Arg247Trp Single submitter Inborn genetic diseases
p.Arg499= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg533= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg583Cys Single submitter
p.Arg828= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg873= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Arg916= Single submitter holoprosencephaly 9
p.Asn1017= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asn262Ser Single submitter Inborn genetic diseases
p.Asn352= Single submitter holoprosencephaly 9
p.Asn529= Single submitter holoprosencephaly 9
p.Asn543= Single submitter
p.Asn975= Single submitter holoprosencephaly 9
p.Asp1028= Single submitter holoprosencephaly 9
p.Asp1035= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp1484= Single submitter
p.Asp1503= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Asp214= Single submitter
p.Asp403His Single submitter
p.Asp688= Single submitter holoprosencephaly 9
p.Asp725= Single submitter
p.Asp839= Single submitter
p.Cys1449= Single submitter
p.Gln1051= Single submitter
p.Gln1317= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gln1450= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gln1463Pro Single submitter Inborn genetic diseases
p.Glu127= Single submitter
p.Glu820Lys Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly1005= Single submitter holoprosencephaly 9
p.Gly1031= Single submitter
p.Gly1115= Single submitter
p.Gly1135= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly1168= Single submitter holoprosencephaly 9
p.Gly1244= Single submitter holoprosencephaly 9
p.Gly1408= Single submitter
p.Gly198= Single submitter holoprosencephaly 9
p.Gly307= Single submitter
p.Gly307Arg Single submitter ⚠
p.Gly668Arg Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly759= Single submitter
p.Gly827= Single submitter holoprosencephaly 9
p.Gly857= Single submitter
p.Gly860= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Gly923= Single submitter
p.Gly935Arg Single submitter
p.Gly947= Single submitter holoprosencephaly 9
p.Gly947Ser Single submitter
p.His1056= Single submitter
p.His106= Single submitter
p.His134= Single submitter holoprosencephaly 9
p.His207= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.His476= Single submitter holoprosencephaly 9
p.His520= Single submitter holoprosencephaly 9
p.His572= Single submitter
p.His577= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.His587Pro Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ile98= Single submitter
p.Leu1174= Single submitter holoprosencephaly 9
p.Leu1208= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu1246Phe Single submitter Inborn genetic diseases
p.Leu1358= Single submitter holoprosencephaly 9
p.Leu1443= Single submitter holoprosencephaly 9
p.Leu1446= Single submitter holoprosencephaly 9
p.Leu1487= Single submitter
p.Leu1487Phe Single submitter Inborn genetic diseases
p.Leu1488= Single submitter
p.Leu1520= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu507= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Leu720= Single submitter
p.Leu771= Single submitter
p.Lys1563Arg Single submitter
p.Met1224Leu Single submitter
p.Phe1495= Single submitter holoprosencephaly 9
p.Phe218= Single submitter holoprosencephaly 9
p.Phe25= Single submitter holoprosencephaly 9
p.Phe287= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Phe490= Single submitter
p.Pro1032= Single submitter holoprosencephaly 9
p.Pro1039= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro105= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro107= Single submitter holoprosencephaly 9
p.Pro1167= Single submitter holoprosencephaly 9
p.Pro1167Gln Single submitter
p.Pro1171= Single submitter holoprosencephaly 9
p.Pro1195= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro1235= Single submitter
p.Pro124Ala Single submitter
p.Pro1341= Single submitter holoprosencephaly 9
p.Pro1416= Single submitter holoprosencephaly 9
p.Pro1423= Single submitter holoprosencephaly 9
p.Pro1468= Single submitter holoprosencephaly 9
p.Pro1530His Single submitter Inborn genetic diseases
p.Pro1540= Single submitter holoprosencephaly 9
p.Pro221= Single submitter
p.Pro283= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro288= Single submitter
p.Pro28Leu Single submitter
p.Pro315= Single submitter holoprosencephaly 9
p.Pro386= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro466= Single submitter
p.Pro605= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro641= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro667= Single submitter holoprosencephaly 9
p.Pro732= Single submitter holoprosencephaly 9
p.Pro767= Single submitter
p.Pro86= Single submitter holoprosencephaly 9
p.Pro884= Single submitter holoprosencephaly 9
p.Pro917= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro959= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Pro996Arg Single submitter holoprosencephaly 9
p.Ser10= Single submitter holoprosencephaly 9
p.Ser1008= Single submitter
p.Ser1133= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser135= Single submitter
p.Ser1391Cys Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser1480= Single submitter holoprosencephaly 9
p.Ser1509= Single submitter
p.Ser1553= Single submitter
p.Ser174= Single submitter holoprosencephaly 9
p.Ser197= Single submitter holoprosencephaly 9
p.Ser494= Single submitter
p.Ser528= Single submitter holoprosencephaly 9
p.Ser531= Single submitter holoprosencephaly 9
p.Ser633= Single submitter holoprosencephaly 9
p.Ser634= Single submitter holoprosencephaly 9
p.Ser747= Single submitter
p.Ser755= Single submitter holoprosencephaly 9
p.Ser757= Single submitter holoprosencephaly 9
p.Ser772= Single submitter
p.Ser807= Single submitter
p.Ser822= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Ser834= Single submitter holoprosencephaly 9
p.Ser849= Single submitter holoprosencephaly 9
p.Ser856= Single submitter holoprosencephaly 9
p.Ser859= Single submitter holoprosencephaly 9
p.Ser90= Single submitter holoprosencephaly 9
p.Ser994= Single submitter holoprosencephaly 9
p.Thr1065= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1074= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1277Met Single submitter Inborn genetic diseases
p.Thr138= Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Thr1529= Single submitter holoprosencephaly 9
p.Thr251= Single submitter holoprosencephaly 9

Uncertain significance 706

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

c.1183-33G>A Multiple submitters Inborn genetic diseases ⚠
c.1317+6C>G Multiple submitters holoprosencephaly 9
c.1318-5G>A Multiple submitters
c.1905+3A>G Multiple submitters holoprosencephaly 9
p.Ala1139Val Multiple submitters holoprosencephaly 9 ⚠
p.Ala1162Thr Multiple submitters holoprosencephaly 9 ⚠
p.Ala151Thr Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala40Thr Multiple submitters holoprosencephaly 9 ⚠
p.Ala40Val Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala47Val Multiple submitters holoprosencephaly 9 ⚠
p.Ala60Glu Multiple submitters holoprosencephaly 9 ⚠
p.Ala799Ser Multiple submitters holoprosencephaly 9 ⚠
p.Ala835Thr Multiple submitters holoprosencephaly 9 ⚠
p.Ala901Val Multiple submitters holoprosencephaly 9 ⚠
p.Ala912_Gly913insProGluArgThrLeuProAla Multiple submitters holoprosencephaly 9
p.Ala944Val Multiple submitters holoprosencephaly 9 ⚠
p.Arg1191Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg1281His Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg1283Gly Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg1367His Multiple submitters holoprosencephaly 9 ⚠
p.Arg1370Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1531Gln Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg222Gln Multiple submitters
p.Arg226His Multiple submitters holoprosencephaly 9
p.Arg374His Multiple submitters holoprosencephaly 9
p.Arg406Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg462Trp Multiple submitters ⚠
p.Arg499His Multiple submitters ⚠
p.Arg499Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg508Trp Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg589His Multiple submitters holoprosencephaly 9 ⚠
p.Arg703Cys Multiple submitters holoprosencephaly 9 ⚠
p.Arg711Trp Multiple submitters holoprosencephaly 9 ⚠
p.Arg737Pro Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg897Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg897Trp Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg957Pro Multiple submitters holoprosencephaly 9 ⚠
p.Arg958Trp Multiple submitters holoprosencephaly 9 ⚠
p.Asn1123Asp Multiple submitters ⚠
p.Asn1124Ile Multiple submitters holoprosencephaly 9 ⚠
p.Asn1280Ser Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Asn1532Tyr Multiple submitters GLI2-related disorder ⚠
p.Asn421Ser Multiple submitters holoprosencephaly 9 ⚠
p.Asn768Ile Multiple submitters Inborn genetic diseases ⚠
p.Asp1042Leu Multiple submitters
p.Asp1496Asn Multiple submitters GLI2-related disorder ⚠
p.Asp725Glu Multiple submitters holoprosencephaly 9 ⚠
p.Asp986Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp999Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys1110Tyr Multiple submitters ⚠
p.Gln1216Arg Multiple submitters holoprosencephaly 9 ⚠
p.Gln1374His Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gln1478His Multiple submitters Inborn genetic diseases ⚠
p.Gln1492His Multiple submitters Inborn genetic diseases ⚠
p.Gln303Pro Multiple submitters holoprosencephaly 9 ⚠
p.Gln854Arg Multiple submitters holoprosencephaly 9 ⚠
p.Glu11Lys Multiple submitters holoprosencephaly 9 ⚠
p.Glu1284Val Multiple submitters Inborn genetic diseases ⚠
p.Glu1489Gly Multiple submitters holoprosencephaly 9
p.Glu380Lys Multiple submitters GLI2-related disorder
p.Glu444Lys Multiple submitters GLI2-related disorder ⚠
p.Glu483Lys Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Glu491Ala Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Glu544Lys Multiple submitters GLI2-related disorder ⚠
p.Glu612Lys Multiple submitters holoprosencephaly 9 ⚠
p.Glu621Lys Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Glu718del Multiple submitters holoprosencephaly 9
p.Gly1343Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly1447Arg Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly191Arg Multiple submitters GLI2-related disorder ⚠
p.Gly271Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly607Ser Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly635Arg Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly748Ser Multiple submitters GLI2-related disorder ⚠
p.Gly756Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly82Ser Multiple submitters holoprosencephaly 9 ⚠
p.Gly858Ser Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly890Asp Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Gly91Ser Multiple submitters Inborn genetic diseases ⚠
p.His119Asp Multiple submitters ⚠
p.His1227Tyr Multiple submitters Inborn genetic diseases ⚠
p.His1234Pro Multiple submitters holoprosencephaly 9 ⚠
p.His1262Tyr Multiple submitters benign neoplasm of eye ⚠
p.His1504Asp Multiple submitters Inborn genetic diseases
p.His506Gln Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.His59Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile19Asn Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ile317Met Multiple submitters Inborn genetic diseases ⚠
p.Leu1140Val Multiple submitters holoprosencephaly 9 ⚠
p.Leu1326Phe Multiple submitters holoprosencephaly 9 ⚠
p.Leu1376Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu20Val Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Leu281Ile Multiple submitters holoprosencephaly 9 ⚠
p.Leu692Pro Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Leu751Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys1145Arg Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Lys451del Multiple submitters GLI2-related disorder
p.Lys465Thr Multiple submitters holoprosencephaly 9 ⚠
p.Lys721Arg Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Lys721Gln Multiple submitters GLI2-related disorder ⚠
p.Met1436Thr Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
p.Met329Val Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Met66Val Multiple submitters Inborn genetic diseases ⚠
p.Pro1012Leu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro1039Leu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro105Leu Multiple submitters Inborn genetic diseases
p.Pro1085Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro1296Thr Multiple submitters holoprosencephaly 9 ⚠
p.Pro1468Ala Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro167Ser Multiple submitters holoprosencephaly 9 ⚠
p.Pro189Leu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Pro288Ser Multiple submitters holoprosencephaly 9 ⚠
p.Pro51Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro884Gln Multiple submitters Inborn genetic diseases ⚠
p.Pro889Leu Multiple submitters holoprosencephaly 9 ⚠
p.Ser1013Gly Multiple submitters ⚠
p.Ser1118Tyr Multiple submitters holoprosencephaly 9 ⚠
p.Ser255Leu Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ser272Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser633Arg Multiple submitters holoprosencephaly 9 ⚠
p.Ser648Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser815del Multiple submitters holoprosencephaly 9
p.Ser818Cys Multiple submitters GLI2-related disorder ⚠
p.Thr1184Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr1222Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr1276Ala Multiple submitters holoprosencephaly 9 ⚠
p.Thr1395Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1395Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr224Met Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Thr337Met Multiple submitters Inborn genetic diseases ⚠
p.Thr379Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr393Ala Multiple submitters holoprosencephaly 9 ⚠
p.Thr3Met Multiple submitters Inborn genetic diseases ⚠
p.Thr461Met Multiple submitters holoprosencephaly 9 ⚠
p.Thr489Met Multiple submitters Inborn genetic diseases ⚠
p.Thr511Asn Multiple submitters ⚠
p.Thr669Met Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Thr689Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr1204Asp Multiple submitters holoprosencephaly 9 ⚠
p.Tyr273Asp Multiple submitters Inborn genetic diseases ⚠
p.Tyr497Ser Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Tyr547Asp Multiple submitters ⚠
p.Tyr558His Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Val1323Leu Multiple submitters Inborn genetic diseases ⚠
p.Val257Ala Multiple submitters Inborn genetic diseases ⚠
p.Val664Met Multiple submitters holoprosencephaly 9 ⚠
p.Val802Met Multiple submitters pituitary stalk interruption syndrome ⚠
p.Val83Ala Multiple submitters Inborn genetic diseases ⚠
c.1182+1G>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.1183-12C>T Single submitter holoprosencephaly 9 ⚠
c.1183-2A>G Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
c.1183-50G>A Single submitter holoprosencephaly 9 ⚠
c.1183-54C>T Single submitter holoprosencephaly 9
c.1317+1G>A Single submitter pituitary stalk interruption syndrome
c.1318-7C>T Single submitter
c.1468-13C>A Single submitter holoprosencephaly 9
c.1468-1G>C Single submitter
c.148+6_148+13del Single submitter holoprosencephaly 9
c.149-14C>G Single submitter holoprosencephaly 9
c.149-3C>G Single submitter
c.1632+4C>T Single submitter Pituitary hormone deficiency
c.1633-7T>A Single submitter holoprosencephaly 9
c.1905+4A>G Single submitter
c.1905+5G>C Single submitter
c.1905+6C>T Single submitter Inborn genetic diseases
c.1906-4G>A Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.254+1G>A Single submitter
c.643+3G>T Single submitter
c.845+5G>T Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
c.-12T>C Single submitter
c.*1332T>C Single submitter holoprosencephaly 9
c.*1333AC[20] Single submitter
c.*1333AC[21] Single submitter
c.*1333AC[24] Single submitter
c.*1628G>T Single submitter holoprosencephaly 9
c.*1660T>A Single submitter holoprosencephaly 9
c.*1735T>C Single submitter holoprosencephaly 9
c.*1753C>T Single submitter holoprosencephaly 9
c.*1819T>C Single submitter holoprosencephaly 9
c.*1888T>G Single submitter holoprosencephaly 9
c.*1947G>A Single submitter holoprosencephaly 9
c.*378A>G Single submitter holoprosencephaly 9
c.*411C>T Single submitter holoprosencephaly 9
c.*712G>C Single submitter holoprosencephaly 9
c.*795T>C Single submitter holoprosencephaly 9
p.Ala1003Val Single submitter Inborn genetic diseases ⚠
p.Ala1019Val Single submitter ⚠
p.Ala1095Gly Single submitter ⚠
p.Ala1096Thr Single submitter Inborn genetic diseases ⚠
p.Ala117Gly Single submitter ⚠
p.Ala1293Ser Single submitter ⚠
p.Ala1347Thr Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala1379Pro Single submitter ⚠
p.Ala1422Phe Single submitter
p.Ala1461Thr Single submitter Inborn genetic diseases ⚠
p.Ala1490Gly Single submitter holoprosencephaly 9 ⚠
p.Ala1490Ser Single submitter ⚠
p.Ala1490Thr Single submitter holoprosencephaly 9 ⚠
p.Ala1511Val Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala151Pro Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala1541Thr Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala1559Pro Single submitter GLI2-related disorder ⚠
p.Ala188Thr Single submitter holoprosencephaly 9 ⚠
p.Ala232Val Single submitter holoprosencephaly 9
p.Ala241Thr Single submitter Inborn genetic diseases ⚠
p.Ala278Gly Single submitter ⚠
p.Ala32Ser Single submitter Inborn genetic diseases ⚠
p.Ala32Thr Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala330Thr Single submitter Inborn genetic diseases ⚠
p.Ala413Gly Single submitter GLI2-related disorder ⚠
p.Ala44_Ala47del Single submitter Inborn genetic diseases
p.Ala459Pro Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala469Val Single submitter ⚠
p.Ala530Thr Single submitter ⚠
p.Ala530Val Single submitter holoprosencephaly 9 ⚠
p.Ala60Pro Single submitter ⚠
p.Ala628Asp Single submitter Inborn genetic diseases ⚠
p.Ala643Thr Single submitter ⚠
p.Ala693Gly Single submitter Inborn genetic diseases ⚠
p.Ala697Ser Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala763Val Single submitter holoprosencephaly 9 ⚠
p.Ala776Thr Single submitter Inborn genetic diseases ⚠
p.Ala7Val Single submitter Inborn genetic diseases ⚠
p.Ala852Thr Single submitter ⚠
p.Ala867Val Single submitter ⚠
p.Ala901Glu Single submitter holoprosencephaly 9 ⚠
p.Ala901Ser Single submitter holoprosencephaly 9 ⚠
p.Ala905Ser Single submitter Inborn genetic diseases ⚠
p.Ala905Thr Single submitter holoprosencephaly 9 ⚠
p.Ala905Val Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Ala939Thr Single submitter holoprosencephaly 9 ⚠
p.Ala939Val Single submitter ⚠
p.Ala985= Single submitter holoprosencephaly 9
p.Ala9Val Single submitter ⚠
p.Arg1004Ser Single submitter Inborn genetic diseases ⚠
p.Arg1010Gln Single submitter Inborn genetic diseases ⚠
p.Arg1010Trp Single submitter Inborn genetic diseases ⚠
p.Arg102Trp Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Arg1091His Single submitter Inborn genetic diseases ⚠
p.Arg1201Gly Single submitter ⚠
p.Arg1365Cys Single submitter holoprosencephaly 9 ⚠
p.Arg1380Met Single submitter Inborn genetic diseases ⚠
p.Arg1453Gln Single submitter ⚠
p.Arg1453Trp Single submitter holoprosencephaly 9 ⚠
p.Arg1531fs Single submitter
p.Arg1531Gly Single submitter Inborn genetic diseases ⚠
p.Arg222Gly Single submitter ⚠
p.Arg226Cys Single submitter
p.Arg229Cys Single submitter ⚠
p.Arg229His Single submitter holoprosencephaly 9 ⚠
p.Arg229Leu Single submitter ⚠
p.Arg231Gln Single submitter ⚠
p.Arg231Trp Single submitter ⚠
p.Arg247Gln Single submitter ⚠
p.Arg304Lys Single submitter Inborn genetic diseases ⚠
p.Arg385Trp Single submitter ⚠
p.Arg406Thr Single submitter ⚠
p.Arg456Cys Single submitter ⚠
p.Arg456Leu Single submitter ⚠
p.Arg478Gln Single submitter holoprosencephaly 9 ⚠
p.Arg499Cys Single submitter holoprosencephaly 9 ⚠
p.Arg508Gln Single submitter ⚠
p.Arg533Cys Single submitter ⚠
p.Arg565Trp Single submitter Inborn genetic diseases ⚠
p.Arg583Leu Single submitter Inborn genetic diseases ⚠
p.Arg711Gln Single submitter ⚠
p.Arg737Gln Single submitter holoprosencephaly 9 ⚠
p.Arg737Trp Single submitter ⚠
p.Arg789Cys Single submitter ⚠
p.Arg804His Single submitter Inborn genetic diseases ⚠
p.Arg805= Single submitter
p.Arg805His Single submitter Inborn genetic diseases ⚠
p.Arg817Cys Single submitter ⚠
p.Arg893Leu Single submitter ⚠
p.Arg908His Single submitter Inborn genetic diseases ⚠
p.Arg908Pro Single submitter ⚠
p.Arg916His Single submitter holoprosencephaly 9 ⚠
p.Arg922Leu Single submitter
p.Arg958Gln Single submitter ⚠
p.Arg958Leu Single submitter holoprosencephaly 9 ⚠
p.Arg966Pro Single submitter Inborn genetic diseases ⚠
p.Arg969Cys Single submitter holoprosencephaly 9 ⚠
p.Arg987Ser Single submitter holoprosencephaly 9 ⚠
p.Arg988Leu Single submitter Inborn genetic diseases ⚠
p.Asn1099Ile Single submitter ⚠
p.Asn1121Asp Single submitter holoprosencephaly 9 ⚠
p.Asn1124Asp Single submitter ⚠
p.Asn1130His Single submitter ⚠
p.Asn1153Lys Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Asn116Ile Single submitter ⚠
p.Asn1247Ser Single submitter ⚠
p.Asn261Tyr Single submitter Inborn genetic diseases ⚠
p.Asn421Lys Single submitter holoprosencephaly 9 ⚠
p.Asn502Ser Single submitter ⚠
p.Asn524Ile Single submitter postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
p.Asn659Tyr Single submitter Inborn genetic diseases ⚠
p.Asn738Lys Single submitter ⚠
p.Asn768Ser Single submitter ⚠
p.Asn977Lys Single submitter holoprosencephaly 9 ⚠
p.Asp1028Glu Single submitter Inborn genetic diseases ⚠