DROSHA — 212 ClinVar variants
All ClinVar germline DROSHA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →
9 Pathogenic · 15 Benign · 50 Likely benign · 138 Uncertain significance
Full DROSHA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 138
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 lean, ClinVar uncertain 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DROSHA p.Lys1373Glu Uncertain significance Multiple submitters
- DROSHA p.Ala1039Thr Uncertain significance Single submitter
- DROSHA p.Ala1211Val Uncertain significance Single submitter
- DROSHA p.Ala1320Val Uncertain significance Single submitter
- DROSHA p.Ala135Val Uncertain significance Single submitter
- DROSHA p.Ala196Thr Uncertain significance Single submitter
- DROSHA p.Ala345Ser Uncertain significance Single submitter
- DROSHA p.Ala345Thr Uncertain significance Single submitter
- DROSHA p.Ala540Thr Uncertain significance Single submitter
- DROSHA p.Ala89Val Uncertain significance Single submitter
- DROSHA p.Arg277Pro Uncertain significance Single submitter
- DROSHA p.Arg371His Uncertain significance Single submitter
- DROSHA p.Arg442His Uncertain significance Single submitter
- DROSHA p.Arg562Cys Uncertain significance Single submitter
- DROSHA p.Arg871Cys Uncertain significance Single submitter
- DROSHA p.Asn187Ser Uncertain significance Single submitter
- DROSHA p.Asn352Ile Uncertain significance Single submitter
-
DROSHA p.Asp1219Gly
Uncertain significance
Single submitter
DROSHA-related neurodevelopmental disorder
- DROSHA p.Asp1231His Uncertain significance Single submitter
- DROSHA p.Asp765Asn Uncertain significance Single submitter
- DROSHA p.Gln162His Uncertain significance Single submitter
- DROSHA p.Gln3Leu Uncertain significance Single submitter
- DROSHA p.Glu393Lys Uncertain significance Single submitter
- DROSHA p.Gly1195Asp Uncertain significance Single submitter
- DROSHA p.Gly140Ser Uncertain significance Single submitter
- DROSHA p.Gly315Glu Uncertain significance Single submitter
- DROSHA p.Gly319Arg Uncertain significance Single submitter
- DROSHA p.Gly692Val Uncertain significance Single submitter
- DROSHA p.His203Tyr Uncertain significance Single submitter
- DROSHA p.His878Pro Uncertain significance Single submitter
- DROSHA p.His878Tyr Uncertain significance Single submitter
- DROSHA p.Ile1230Val Uncertain significance Single submitter
- DROSHA p.Ile387Val Uncertain significance Single submitter
- DROSHA p.Leu1016Phe Uncertain significance Single submitter
- DROSHA p.Leu1068Ile Uncertain significance Single submitter
- DROSHA p.Leu207Val Uncertain significance Single submitter
- DROSHA p.Leu452Val Uncertain significance Single submitter
- DROSHA p.Leu917Ser Uncertain significance Single submitter
- DROSHA p.Leu991Met Uncertain significance Single submitter
- DROSHA p.Lys308Arg Uncertain significance Single submitter
- DROSHA p.Lys339Glu Uncertain significance Single submitter
- DROSHA p.Lys559Asn Uncertain significance Single submitter
- DROSHA p.Lys619Arg Uncertain significance Single submitter
- DROSHA p.Met160Val Uncertain significance Single submitter
- DROSHA p.Met396Ile Uncertain significance Single submitter
- DROSHA p.Phe12Val Uncertain significance Single submitter
- DROSHA p.Phe63Leu Uncertain significance Single submitter
- DROSHA p.Phe669Leu Uncertain significance Single submitter
- DROSHA p.Phe681Cys Uncertain significance Single submitter
- DROSHA p.Pro1261Ser Uncertain significance Single submitter
- DROSHA p.Pro347Ser Uncertain significance Single submitter
- DROSHA p.Pro667Thr Uncertain significance Single submitter
- DROSHA p.Pro673Leu Uncertain significance Single submitter
- DROSHA p.Pro764Ser Uncertain significance Single submitter
- DROSHA p.Ser201Gly Uncertain significance Single submitter
- DROSHA p.Ser454Thr Uncertain significance Single submitter
- DROSHA p.Ser843Ile Uncertain significance Single submitter
- DROSHA p.Thr1206Ser Uncertain significance Single submitter
- DROSHA p.Thr330Ala Uncertain significance Single submitter
- DROSHA p.Thr747Arg Uncertain significance Single submitter
- DROSHA p.Thr747Lys Uncertain significance Single submitter
- DROSHA p.Thr747Met Uncertain significance Single submitter
- DROSHA p.Thr839Met Uncertain significance Single submitter
- DROSHA p.Tyr1284Cys Uncertain significance Single submitter
- DROSHA p.Tyr53His Uncertain significance Single submitter
- DROSHA p.Val982Ile Uncertain significance Single submitter
-
DROSHA p.Asp1073Ala
Uncertain significance
No assertion criteria
hepatoblastoma
-
DROSHA p.Asp671Gly
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.His244Asp
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Pro19Arg
Uncertain significance
No assertion criteria
DROSHA-related disorder
Predictors split 68
The independent predictors disagree with each other — read with care.
-
DROSHA p.Asp248His
Uncertain significance
Multiple submitters
DROSHA-related disorder
-
DROSHA p.Pro100Leu
Uncertain significance
Multiple submitters
DROSHA-related disorder
- DROSHA p.Pro83Leu Likely benign Multiple submitters
- DROSHA p.Ala68Asp Uncertain significance Single submitter
- DROSHA p.Arg1066Cys Uncertain significance Single submitter
- DROSHA p.Arg245Gln Uncertain significance Single submitter
- DROSHA p.Arg245Trp Uncertain significance Single submitter
- DROSHA p.Arg249Gln Uncertain significance Single submitter
- DROSHA p.Arg249Leu Uncertain significance Single submitter
- DROSHA p.Arg250Gln Uncertain significance Single submitter
- DROSHA p.Arg271Gln Uncertain significance Single submitter
- DROSHA p.Arg271Gly Uncertain significance Single submitter
- DROSHA p.Arg277His Uncertain significance Single submitter
- DROSHA p.Arg283Trp Uncertain significance Single submitter
- DROSHA p.Arg287Gln Uncertain significance Single submitter
- DROSHA p.Arg298Gln Uncertain significance Single submitter
-
DROSHA p.Arg354Cys
Uncertain significance
Single submitter
DROSHA-related disorder
- DROSHA p.Arg364His Uncertain significance Single submitter
- DROSHA p.Arg371Cys Uncertain significance Single submitter
-
DROSHA p.Arg40Thr
Uncertain significance
Single submitter
DROSHA-related disorder
- DROSHA p.Arg75Gln Uncertain significance Single submitter
- DROSHA p.Asn614Lys Uncertain significance Single submitter
- DROSHA p.Asn763Lys Uncertain significance Single submitter
- DROSHA p.Asn905Ser Uncertain significance Single submitter
- DROSHA p.Asp257Asn Likely benign Single submitter
- DROSHA p.Asp257Tyr Uncertain significance Single submitter
- DROSHA p.Cys857Ser Uncertain significance Single submitter
- DROSHA p.Glu1345Lys Uncertain significance Single submitter
- DROSHA p.Glu310Lys Uncertain significance Single submitter
- DROSHA p.Glu368Val Uncertain significance Single submitter
- DROSHA p.His417Gln Uncertain significance Single submitter
- DROSHA p.Ile1114Thr Benign Single submitter
- DROSHA p.Ile1114Val Uncertain significance Single submitter
- DROSHA p.Ile754Met Uncertain significance Single submitter
- DROSHA p.Lys447Asn Uncertain significance Single submitter
- DROSHA p.Lys711Asn Uncertain significance Single submitter
- DROSHA p.Met1146Ile Uncertain significance Single submitter
- DROSHA p.Met151Lys Uncertain significance Single submitter
- DROSHA p.Phe142Leu Uncertain significance Single submitter
- DROSHA p.Phe572Val Uncertain significance Single submitter
- DROSHA p.Phe607Leu Uncertain significance Single submitter
- DROSHA p.Phe78Ile Uncertain significance Single submitter
- DROSHA p.Pro101Ser Uncertain significance Single submitter
- DROSHA p.Pro1072Leu Uncertain significance Single submitter
- DROSHA p.Pro133Leu Uncertain significance Single submitter
- DROSHA p.Pro155Leu Uncertain significance Single submitter
- DROSHA p.Pro161Leu Uncertain significance Single submitter
-
DROSHA p.Pro211Thr
Uncertain significance
Single submitter
DROSHA-related disorder
- DROSHA p.Pro76Leu Uncertain significance Single submitter
- DROSHA p.Pro95His Uncertain significance Single submitter
- DROSHA p.Pro95Ser Uncertain significance Single submitter
- DROSHA p.Ser1034Leu Uncertain significance Single submitter
- DROSHA p.Ser191Tyr Uncertain significance Single submitter
- DROSHA p.Ser237Asn Uncertain significance Single submitter
- DROSHA p.Ser267Thr Uncertain significance Single submitter
- DROSHA p.Ser495Gly Uncertain significance Single submitter
- DROSHA p.Ser57Cys Uncertain significance Single submitter
- DROSHA p.Ser783Asn Uncertain significance Single submitter
- DROSHA p.Ser844Gly Uncertain significance Single submitter
-
DROSHA p.Arg108Lys
Uncertain significance
No assertion criteria
esophageal atresia
-
DROSHA p.Arg252Gln
Benign
No assertion criteria
Abnormality of neuronal migration
-
DROSHA p.Arg254His
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Arg279Cys
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Asp655Asn
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Pro170Leu
Benign
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Pro83Arg
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Ser150Cys
Uncertain significance
No assertion criteria
DROSHA-related disorder
-
DROSHA p.Ser491Asn
Uncertain significance
No assertion criteria
DROSHA-related disorder
All DROSHA variants
Pathogenic 9
- p.Glu310fs Single submitter hepatoblastoma
- p.Glu500Ter Single submitter hereditary breast ovarian cancer syndrome
- c.2883-1G>A No assertion criteria pineoblastoma
- c.3261+1G>C No assertion criteria pineoblastoma
- p.Ala135fs No assertion criteria pineoblastoma
- p.Arg271Ter No assertion criteria pineoblastoma
- p.Asn1183fs No assertion criteria pineoblastoma
- p.Asp814fs No assertion criteria pineoblastoma
- p.Leu996Phe No assertion criteria pineoblastoma
Benign 15
- c.3216+9A>G Multiple submitters
- p.Ile1309= Multiple submitters
- p.Leu1009= Multiple submitters
- p.Lys388= Multiple submitters
- p.Pro67Thr Multiple submitters
- p.Pro87= Multiple submitters
- p.Tyr1199= Multiple submitters
- p.Ile1114Thr Single submitter ⚠
- c.2943-5dup No assertion criteria DROSHA-related disorder
- p.Arg252Gln No assertion criteria Abnormality of neuronal migration ⚠
- p.Asn1255= No assertion criteria DROSHA-related disorder
- p.Pro1102= No assertion criteria DROSHA-related disorder
- p.Pro170Leu No assertion criteria DROSHA-related disorder ⚠
- p.Ser321Leu No assertion criteria DROSHA-related disorder
- p.Ser981= No assertion criteria DROSHA-related disorder
Likely benign 50
- p.Pro56Ser Multiple submitters
- p.Pro83Leu Multiple submitters ⚠
- c.1587+10T>C Single submitter
- c.3948-10_3948-6del Single submitter
- p.Ala1050= Single submitter
- p.Arg961= Single submitter
- p.Asn176Ser Single submitter
- p.Asp257Asn Single submitter ⚠
- p.Cys415= Single submitter
- p.His175= Single submitter
- p.Ile1372Val Single submitter
- p.Pro1209= Single submitter
- c.1433-9C>T No assertion criteria DROSHA-related disorder
- c.20+9C>T No assertion criteria DROSHA-related disorder
- c.2575-6del No assertion criteria DROSHA-related disorder
- c.2575-6dup No assertion criteria DROSHA-related disorder
- c.2883-4G>A No assertion criteria DROSHA-related disorder
- c.2943-5del No assertion criteria DROSHA-related disorder
- c.3751-9C>T No assertion criteria DROSHA-related disorder
- c.3855-7C>T No assertion criteria DROSHA-related disorder
- c.3948-9A>C No assertion criteria DROSHA-related disorder
- p.Ala1191= No assertion criteria DROSHA-related disorder
- p.Ala1211= No assertion criteria DROSHA-related disorder
- p.Ala1218= No assertion criteria DROSHA-related disorder
- p.Ala557Ser No assertion criteria DROSHA-related disorder
- p.Ala860= No assertion criteria DROSHA-related disorder
- p.Arg1075= No assertion criteria DROSHA-related disorder
- p.Arg354= No assertion criteria DROSHA-related disorder
- p.Asp587= No assertion criteria DROSHA-related disorder
- p.Cys1269= No assertion criteria DROSHA-related disorder
- p.Gln261Arg No assertion criteria DROSHA-related disorder
- p.Gln376= No assertion criteria DROSHA-related disorder
- p.Gly17= No assertion criteria DROSHA-related disorder
- p.His292= No assertion criteria DROSHA-related disorder
- p.His597= No assertion criteria DROSHA-related disorder
- p.Ile1344= No assertion criteria DROSHA-related disorder
- p.Leu1057= No assertion criteria DROSHA-related disorder
- p.Leu863= No assertion criteria DROSHA-related disorder
- p.Leu917= No assertion criteria DROSHA-related disorder
- p.Lys559= No assertion criteria DROSHA-related disorder
- p.Pro100= No assertion criteria DROSHA-related disorder
- p.Pro161= No assertion criteria DROSHA-related disorder
- p.Pro256= No assertion criteria DROSHA-related disorder
- p.Pro392= No assertion criteria DROSHA-related disorder
- p.Pro637= No assertion criteria DROSHA-related disorder
- p.Pro764= No assertion criteria DROSHA-related disorder
- p.Pro779= No assertion criteria DROSHA-related disorder
- p.Ser539= No assertion criteria DROSHA-related disorder
- p.Val1004= No assertion criteria DROSHA-related disorder
- p.Val1190= No assertion criteria DROSHA-related disorder
Uncertain significance 138
- p.Asp248His Multiple submitters DROSHA-related disorder ⚠
- p.Lys1373Glu Multiple submitters ⚠
- p.Pro100Leu Multiple submitters DROSHA-related disorder ⚠
- p.Ala1039Thr Single submitter ⚠
- p.Ala1211Val Single submitter ⚠
- p.Ala1320Val Single submitter ⚠
- p.Ala135Val Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala345Ser Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala540Thr Single submitter ⚠
- p.Ala68Asp Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg1066Cys Single submitter ⚠
- p.Arg234Ter Single submitter MicroRNA processor tumor predisposition syndrome
- p.Arg245Gln Single submitter ⚠
- p.Arg245Trp Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Arg249Leu Single submitter ⚠
- p.Arg250Gln Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg271Gly Single submitter ⚠
- p.Arg277His Single submitter ⚠
- p.Arg277Pro Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg287Gln Single submitter ⚠
- p.Arg287Ter Single submitter MicroRNA processor tumor predisposition syndrome
- p.Arg298Gln Single submitter ⚠
- p.Arg354Cys Single submitter DROSHA-related disorder ⚠
- p.Arg364His Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg371His Single submitter ⚠
- p.Arg40Thr Single submitter DROSHA-related disorder ⚠
- p.Arg442His Single submitter ⚠
- p.Arg562Cys Single submitter ⚠
- p.Arg75Gln Single submitter ⚠
- p.Arg871Cys Single submitter ⚠
- p.Asn187Ser Single submitter ⚠
- p.Asn352Ile Single submitter ⚠
- p.Asn614Lys Single submitter ⚠
- p.Asn763Lys Single submitter ⚠
- p.Asn905Ser Single submitter ⚠
- p.Asp1219Gly Single submitter DROSHA-related neurodevelopmental disorder ⚠
- p.Asp1231His Single submitter ⚠
- p.Asp257Tyr Single submitter ⚠
- p.Asp765Asn Single submitter ⚠
- p.Cys857Ser Single submitter ⚠
- p.Gln162His Single submitter ⚠
- p.Gln3Leu Single submitter ⚠
- p.Glu1345Lys Single submitter ⚠
- p.Glu310Lys Single submitter ⚠
- p.Glu368Val Single submitter ⚠
- p.Glu393Lys Single submitter ⚠
- p.Gly1195Asp Single submitter ⚠
- p.Gly140Ser Single submitter ⚠
- p.Gly315Glu Single submitter ⚠
- p.Gly319Arg Single submitter ⚠
- p.Gly692Val Single submitter ⚠
- p.His203Tyr Single submitter ⚠
- p.His417Gln Single submitter ⚠
- p.His878Pro Single submitter ⚠
- p.His878Tyr Single submitter ⚠
- p.Ile1114Val Single submitter ⚠
- p.Ile1230Val Single submitter ⚠
- p.Ile387Val Single submitter ⚠
- p.Ile754Met Single submitter ⚠
- p.Leu1016Phe Single submitter ⚠
- p.Leu1068Ile Single submitter ⚠
- p.Leu1228fs Single submitter MicroRNA processor tumor predisposition syndrome
- p.Leu207Val Single submitter ⚠
- p.Leu452Val Single submitter ⚠
- p.Leu917Ser Single submitter ⚠
- p.Leu991Met Single submitter ⚠
- p.Lys308Arg Single submitter ⚠
- p.Lys339Glu Single submitter ⚠
- p.Lys447Asn Single submitter ⚠
- p.Lys559Asn Single submitter ⚠
- p.Lys619Arg Single submitter ⚠
- p.Lys711Asn Single submitter ⚠
- p.Met1146Ile Single submitter ⚠
- p.Met151Lys Single submitter ⚠
- p.Met160Val Single submitter ⚠
- p.Met396Ile Single submitter ⚠
- p.Phe12Val Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Phe572Val Single submitter ⚠
- p.Phe607Leu Single submitter ⚠
- p.Phe63Leu Single submitter ⚠
- p.Phe669Leu Single submitter ⚠
- p.Phe681Cys Single submitter ⚠
- p.Phe78Ile Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro1072Leu Single submitter ⚠
- p.Pro1261Ser Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro161Leu Single submitter ⚠
- p.Pro211Thr Single submitter DROSHA-related disorder ⚠
- p.Pro222del Single submitter DROSHA-related disorder
- p.Pro347Ser Single submitter ⚠
- p.Pro667Thr Single submitter ⚠
- p.Pro673Leu Single submitter ⚠
- p.Pro764Ser Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Pro95His Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser1034Leu Single submitter ⚠
- p.Ser191Tyr Single submitter ⚠
- p.Ser201Gly Single submitter ⚠
- p.Ser237Asn Single submitter ⚠
- p.Ser267Thr Single submitter ⚠
- p.Ser454Thr Single submitter ⚠
- p.Ser495Gly Single submitter ⚠
- p.Ser57Cys Single submitter ⚠
- p.Ser783Asn Single submitter ⚠
- p.Ser843Ile Single submitter ⚠
- p.Ser844Gly Single submitter ⚠
- p.Thr1206Ser Single submitter ⚠
- p.Thr330Ala Single submitter ⚠
- p.Thr747Arg Single submitter ⚠
- p.Thr747Lys Single submitter ⚠
- p.Thr747Met Single submitter ⚠
- p.Thr839Met Single submitter ⚠
- p.Trp523Ter Single submitter MicroRNA processor tumor predisposition syndrome
- p.Tyr1284Cys Single submitter ⚠
- p.Tyr53His Single submitter ⚠
- p.Val982Ile Single submitter ⚠
- p.Arg108Lys No assertion criteria esophageal atresia ⚠
- p.Arg254His No assertion criteria DROSHA-related disorder ⚠
- p.Arg279Cys No assertion criteria DROSHA-related disorder ⚠
- p.Asp1073Ala No assertion criteria hepatoblastoma ⚠
- p.Asp655Asn No assertion criteria DROSHA-related disorder ⚠
- p.Asp671Gly No assertion criteria DROSHA-related disorder ⚠
- p.His244Asp No assertion criteria DROSHA-related disorder ⚠
- p.Pro19Arg No assertion criteria DROSHA-related disorder ⚠
- p.Pro83Arg No assertion criteria DROSHA-related disorder ⚠
- p.Ser150Cys No assertion criteria DROSHA-related disorder ⚠
- p.Ser491Asn No assertion criteria DROSHA-related disorder ⚠