CTTNBP2 — 162 ClinVar variants
All ClinVar germline CTTNBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →
9 Benign · 22 Likely benign · 131 Uncertain significance
Full CTTNBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 124
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 111
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTTNBP2 p.Ala1323Val Uncertain significance Single submitter
- CTTNBP2 p.Ala1363Thr Uncertain significance Single submitter
- CTTNBP2 p.Ala1528Gly Uncertain significance Single submitter
- CTTNBP2 p.Ala22Pro Uncertain significance Single submitter
- CTTNBP2 p.Ala250Val Uncertain significance Single submitter
- CTTNBP2 p.Ala27Thr Uncertain significance Single submitter
-
CTTNBP2 p.Ala632Pro
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Ala917Val Uncertain significance Single submitter
- CTTNBP2 p.Arg1159Thr Uncertain significance Single submitter
- CTTNBP2 p.Arg1271Trp Uncertain significance Single submitter
- CTTNBP2 p.Arg14Gly Uncertain significance Single submitter
- CTTNBP2 p.Arg159His Uncertain significance Single submitter
- CTTNBP2 p.Arg283Gln Uncertain significance Single submitter
- CTTNBP2 p.Arg283Leu Uncertain significance Single submitter
-
CTTNBP2 p.Arg911Lys
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Arg943Lys Uncertain significance Single submitter
- CTTNBP2 p.Asn1019Asp Uncertain significance Single submitter
- CTTNBP2 p.Asn1038Ser Uncertain significance Single submitter
- CTTNBP2 p.Asn1408Ser Uncertain significance Single submitter
- CTTNBP2 p.Asn1459Ile Uncertain significance Single submitter
- CTTNBP2 p.Asn855Ser Uncertain significance Single submitter
- CTTNBP2 p.Asn999His Uncertain significance Single submitter
- CTTNBP2 p.Asp11Val Uncertain significance Single submitter
- CTTNBP2 p.Asp1309Asn Uncertain significance Single submitter
- CTTNBP2 p.Asp1423Glu Uncertain significance Single submitter
- CTTNBP2 p.Asp1545Asn Uncertain significance Single submitter
- CTTNBP2 p.Asp1560Val Uncertain significance Single submitter
- CTTNBP2 p.Gln1282Lys Uncertain significance Single submitter
- CTTNBP2 p.Gln1384Lys Uncertain significance Single submitter
- CTTNBP2 p.Gln1622His Uncertain significance Single submitter
- CTTNBP2 p.Gln411Glu Uncertain significance Single submitter
- CTTNBP2 p.Gln461Arg Uncertain significance Single submitter
- CTTNBP2 p.Gln72Arg Uncertain significance Single submitter
- CTTNBP2 p.Gln787Glu Uncertain significance Single submitter
- CTTNBP2 p.Glu200Lys Uncertain significance Single submitter
- CTTNBP2 p.Glu201Lys Uncertain significance Single submitter
- CTTNBP2 p.Glu222Lys Uncertain significance Single submitter
- CTTNBP2 p.Glu742Gly Uncertain significance Single submitter
- CTTNBP2 p.Glu877Lys Uncertain significance Single submitter
- CTTNBP2 p.Glu880Lys Uncertain significance Single submitter
- CTTNBP2 p.Glu890Gly Uncertain significance Single submitter
- CTTNBP2 p.Glu930Lys Uncertain significance Single submitter
- CTTNBP2 p.Gly1295Asp Uncertain significance Single submitter
- CTTNBP2 p.Gly1381Ser Uncertain significance Single submitter
- CTTNBP2 p.Gly1467Asp Uncertain significance Single submitter
- CTTNBP2 p.Gly1563Arg Uncertain significance Single submitter
- CTTNBP2 p.Gly1563Val Uncertain significance Single submitter
- CTTNBP2 p.Gly1605Ala Uncertain significance Single submitter
- CTTNBP2 p.Gly165Cys Uncertain significance Single submitter
- CTTNBP2 p.Gly50Arg Uncertain significance Single submitter
- CTTNBP2 p.Gly709Asp Uncertain significance Single submitter
- CTTNBP2 p.Gly985Arg Uncertain significance Single submitter
- CTTNBP2 p.His1413Tyr Uncertain significance Single submitter
- CTTNBP2 p.His318Arg Uncertain significance Single submitter
- CTTNBP2 p.His935Tyr Uncertain significance Single submitter
- CTTNBP2 p.Ile1157Thr Uncertain significance Single submitter
- CTTNBP2 p.Ile1194Thr Uncertain significance Single submitter
-
CTTNBP2 p.Ile1370Val
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Ile1489Val Uncertain significance Single submitter
- CTTNBP2 p.Leu311Pro Uncertain significance Single submitter
- CTTNBP2 p.Lys205Thr Uncertain significance Single submitter
- CTTNBP2 p.Lys342Glu Uncertain significance Single submitter
- CTTNBP2 p.Lys860Asn Uncertain significance Single submitter
- CTTNBP2 p.Lys898Glu Uncertain significance Single submitter
-
CTTNBP2 p.Lys923Arg
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Met1246Lys Uncertain significance Single submitter
- CTTNBP2 p.Met1558Ile Uncertain significance Single submitter
- CTTNBP2 p.Met1558Lys Uncertain significance Single submitter
- CTTNBP2 p.Met223Leu Uncertain significance Single submitter
- CTTNBP2 p.Met265Arg Uncertain significance Single submitter
- CTTNBP2 p.Met351Thr Uncertain significance Single submitter
- CTTNBP2 p.Met425Thr Uncertain significance Single submitter
- CTTNBP2 p.Met728Leu Uncertain significance Single submitter
- CTTNBP2 p.Pro1061Ser Uncertain significance Single submitter
- CTTNBP2 p.Pro10Ser Uncertain significance Single submitter
- CTTNBP2 p.Pro1328Arg Uncertain significance Single submitter
- CTTNBP2 p.Pro1341Thr Uncertain significance Single submitter
- CTTNBP2 p.Pro1616Ala Uncertain significance Single submitter
- CTTNBP2 p.Pro1616Ser Uncertain significance Single submitter
- CTTNBP2 p.Pro1661Thr Uncertain significance Single submitter
- CTTNBP2 p.Pro16Arg Uncertain significance Single submitter
- CTTNBP2 p.Pro335Arg Uncertain significance Single submitter
- CTTNBP2 p.Pro392Ser Uncertain significance Single submitter
- CTTNBP2 p.Pro470Leu Uncertain significance Single submitter
- CTTNBP2 p.Pro507Leu Uncertain significance Single submitter
- CTTNBP2 p.Pro514Arg Uncertain significance Single submitter
- CTTNBP2 p.Pro588Ser Uncertain significance Single submitter
- CTTNBP2 p.Pro604Arg Uncertain significance Single submitter
- CTTNBP2 p.Pro640Ser Uncertain significance Single submitter
- CTTNBP2 p.Ser1167Thr Uncertain significance Single submitter
- CTTNBP2 p.Ser1206Leu Uncertain significance Single submitter
- CTTNBP2 p.Ser1433Gly Uncertain significance Single submitter
- CTTNBP2 p.Ser1539Cys Uncertain significance Single submitter
- CTTNBP2 p.Ser1624Phe Uncertain significance Single submitter
- CTTNBP2 p.Thr1100Ala Uncertain significance Single submitter
- CTTNBP2 p.Thr1513Met Uncertain significance Single submitter
- CTTNBP2 p.Thr236Ser Uncertain significance Single submitter
- CTTNBP2 p.Thr477Ala Uncertain significance Single submitter
- CTTNBP2 p.Thr633Met Uncertain significance Single submitter
-
CTTNBP2 p.Tyr1336Cys
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Tyr864Cys Uncertain significance Single submitter
- CTTNBP2 p.Val1123Ile Uncertain significance Single submitter
- CTTNBP2 p.Val1361Ile Uncertain significance Single submitter
- CTTNBP2 p.Val47Met Uncertain significance Single submitter
- CTTNBP2 p.Val518Phe Uncertain significance Single submitter
- CTTNBP2 p.Val534Ile Uncertain significance Single submitter
- CTTNBP2 p.Val838Ile Uncertain significance Single submitter
- CTTNBP2 p.Val900Phe Uncertain significance Single submitter
-
CTTNBP2 p.Cys676Arg
Uncertain significance
No assertion criteria
CTTNBP2-related disorder
-
CTTNBP2 p.Glu1275Lys
Uncertain significance
No assertion criteria
prostate cancer
-
CTTNBP2 p.Ser436Phe
Uncertain significance
No assertion criteria
CTTNBP2-related disorder
Predictors split 13
The independent predictors disagree with each other — read with care.
- CTTNBP2 p.Ala1374Pro Uncertain significance Single submitter
- CTTNBP2 p.Arg1266Cys Uncertain significance Single submitter
- CTTNBP2 p.Arg74Trp Uncertain significance Single submitter
- CTTNBP2 p.Cys792Ser Uncertain significance Single submitter
- CTTNBP2 p.Gln1263Glu Uncertain significance Single submitter
- CTTNBP2 p.Glu1275Gln Uncertain significance Single submitter
- CTTNBP2 p.Leu1534Phe Uncertain significance Single submitter
- CTTNBP2 p.Leu816Gln Uncertain significance Single submitter
- CTTNBP2 p.Lys244Glu Uncertain significance Single submitter
- CTTNBP2 p.Phe1009Leu Uncertain significance Single submitter
- CTTNBP2 p.Pro1276His Uncertain significance Single submitter
-
CTTNBP2 p.Pro542Leu
Uncertain significance
Single submitter
CTTNBP2-related disorder
- CTTNBP2 p.Pro704Ala Uncertain significance Single submitter
All CTTNBP2 variants
Benign 9
- p.Ala61= Multiple submitters
- p.Lys1619Gln Multiple submitters
- p.Pro1586Leu Single submitter
- c.2778+6T>C No assertion criteria CTTNBP2-related disorder
- c.414+9G>A No assertion criteria CTTNBP2-related disorder
- p.Gln1148Lys No assertion criteria CTTNBP2-related disorder
- p.Glu9Lys No assertion criteria CTTNBP2-related disorder
- p.Ile1193= No assertion criteria CTTNBP2-related disorder
- p.Leu1213Val No assertion criteria CTTNBP2-related disorder
Likely benign 22
- c.4056-5G>T Single submitter
- p.Ala1297Val Single submitter
- p.Arg218Gln Single submitter
- p.Leu12Phe Single submitter
- p.Met326Val Single submitter
- p.Ser1206= Single submitter
- p.Thr1426= Single submitter
- p.Thr391= Single submitter
- p.Val195Ile Single submitter
- p.Val370Leu Single submitter
- c.4448-7_4448-6dup No assertion criteria CTTNBP2-related disorder
- p.Ala127Thr No assertion criteria CTTNBP2-related disorder
- p.Ala15= No assertion criteria CTTNBP2-related disorder
- p.Ala920= No assertion criteria CTTNBP2-related disorder
- p.Arg289His No assertion criteria CTTNBP2-related disorder
- p.Arg74= No assertion criteria CTTNBP2-related disorder
- p.Gln593= No assertion criteria CTTNBP2-related disorder
- p.Gln648Glu No assertion criteria CTTNBP2-related disorder
- p.His865= No assertion criteria CTTNBP2-related disorder
- p.Leu1407= No assertion criteria CTTNBP2-related disorder
- p.Leu62= No assertion criteria CTTNBP2-related disorder
- p.Ser1098Ile No assertion criteria CTTNBP2-related disorder
Uncertain significance 131
- c.3436-2A>G Single submitter
- p.Ala1323Val Single submitter ⚠
- p.Ala1363Thr Single submitter ⚠
- p.Ala1374Pro Single submitter ⚠
- p.Ala1528Gly Single submitter ⚠
- p.Ala22Pro Single submitter ⚠
- p.Ala250Val Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala632Pro Single submitter CTTNBP2-related disorder ⚠
- p.Ala917Val Single submitter ⚠
- p.Arg1159Thr Single submitter ⚠
- p.Arg1266Cys Single submitter ⚠
- p.Arg1271Trp Single submitter ⚠
- p.Arg14Gly Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg283Leu Single submitter ⚠
- p.Arg74Trp Single submitter ⚠
- p.Arg911Lys Single submitter CTTNBP2-related disorder ⚠
- p.Arg943Lys Single submitter ⚠
- p.Asn1019Asp Single submitter ⚠
- p.Asn1038Ser Single submitter ⚠
- p.Asn1408Ser Single submitter ⚠
- p.Asn1459Ile Single submitter ⚠
- p.Asn855Ser Single submitter ⚠
- p.Asn999His Single submitter ⚠
- p.Asp11Val Single submitter ⚠
- p.Asp1309Asn Single submitter ⚠
- p.Asp1423Glu Single submitter ⚠
- p.Asp1545Asn Single submitter ⚠
- p.Asp1560Val Single submitter ⚠
- p.Cys792Ser Single submitter ⚠
- p.Gln1263Glu Single submitter ⚠
- p.Gln1282Lys Single submitter ⚠
- p.Gln1384Lys Single submitter ⚠
- p.Gln1622His Single submitter ⚠
- p.Gln411Glu Single submitter ⚠
- p.Gln461Arg Single submitter ⚠
- p.Gln72Arg Single submitter ⚠
- p.Gln787Glu Single submitter ⚠
- p.Glu1275Gln Single submitter ⚠
- p.Glu200Lys Single submitter ⚠
- p.Glu201Lys Single submitter ⚠
- p.Glu222Lys Single submitter ⚠
- p.Glu742Gly Single submitter ⚠
- p.Glu877Lys Single submitter ⚠
- p.Glu880Lys Single submitter ⚠
- p.Glu890Gly Single submitter ⚠
- p.Glu930Lys Single submitter ⚠
- p.Gly1295Asp Single submitter ⚠
- p.Gly1381Ser Single submitter ⚠
- p.Gly1467Asp Single submitter ⚠
- p.Gly1563Arg Single submitter ⚠
- p.Gly1563Val Single submitter ⚠
- p.Gly1605Ala Single submitter ⚠
- p.Gly165Cys Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.Gly709Asp Single submitter ⚠
- p.Gly985Arg Single submitter ⚠
- p.His1413Tyr Single submitter ⚠
- p.His318Arg Single submitter ⚠
- p.His935Tyr Single submitter ⚠
- p.Ile1157Thr Single submitter ⚠
- p.Ile1194Thr Single submitter ⚠
- p.Ile1370Val Single submitter CTTNBP2-related disorder ⚠
- p.Ile1489Val Single submitter ⚠
- p.Ile545Val Single submitter
- p.Leu1512fs Single submitter CTTNBP2-related disorder
- p.Leu1534Phe Single submitter ⚠
- p.Leu311Pro Single submitter ⚠
- p.Leu816Gln Single submitter ⚠
- p.Lys205Thr Single submitter ⚠
- p.Lys244Glu Single submitter ⚠
- p.Lys342Glu Single submitter ⚠
- p.Lys530Glu Single submitter
- p.Lys860Asn Single submitter ⚠
- p.Lys898Glu Single submitter ⚠
- p.Lys923Arg Single submitter CTTNBP2-related disorder ⚠
- p.Met1246Lys Single submitter ⚠
- p.Met1558Ile Single submitter ⚠
- p.Met1558Lys Single submitter ⚠
- p.Met223Leu Single submitter ⚠
- p.Met265Arg Single submitter ⚠
- p.Met351Thr Single submitter ⚠
- p.Met425Thr Single submitter ⚠
- p.Met728Leu Single submitter ⚠
- p.Phe1009Leu Single submitter ⚠
- p.Pro1061Ser Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro1276His Single submitter ⚠
- p.Pro1328Arg Single submitter ⚠
- p.Pro1341Thr Single submitter ⚠
- p.Pro1616Ala Single submitter ⚠
- p.Pro1616Ser Single submitter ⚠
- p.Pro1661Thr Single submitter ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro335Arg Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro470Leu Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Pro514Arg Single submitter ⚠
- p.Pro542Leu Single submitter CTTNBP2-related disorder ⚠
- p.Pro588Ser Single submitter ⚠
- p.Pro604Arg Single submitter ⚠
- p.Pro640Ser Single submitter ⚠
- p.Pro704Ala Single submitter ⚠
- p.Ser1048Arg Single submitter
- p.Ser1167Thr Single submitter ⚠
- p.Ser1206Leu Single submitter ⚠
- p.Ser1433Gly Single submitter ⚠
- p.Ser1539Cys Single submitter ⚠
- p.Ser1624Phe Single submitter ⚠
- p.Thr1100Ala Single submitter ⚠
- p.Thr1460Ala Single submitter
- p.Thr1513Met Single submitter ⚠
- p.Thr236Ser Single submitter ⚠
- p.Thr477Ala Single submitter ⚠
- p.Thr633Met Single submitter ⚠
- p.Tyr1336Cys Single submitter CTTNBP2-related disorder ⚠
- p.Tyr864Cys Single submitter ⚠
- p.Val1123Ile Single submitter ⚠
- p.Val1361Ile Single submitter ⚠
- p.Val47Met Single submitter ⚠
- p.Val518Phe Single submitter ⚠
- p.Val534Ile Single submitter ⚠
- p.Val838Ile Single submitter ⚠
- p.Val900Phe Single submitter ⚠
- p.Cys676Arg No assertion criteria CTTNBP2-related disorder ⚠
- p.Glu1275Lys No assertion criteria prostate cancer ⚠
- p.His951Leu No assertion criteria CTTNBP2-related disorder
- p.Ser436Phe No assertion criteria CTTNBP2-related disorder ⚠