SRGAP1 — 158 ClinVar variants
All ClinVar germline SRGAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
1 Pathogenic · 12 Benign · 1 Benign/Likely benign · 24 Likely benign · 120 Uncertain significance
Full SRGAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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.
-
SRGAP1 p.Ala275Thr
Pathogenic
No assertion criteria
thyroid cancer, nonmedullary, 2
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SRGAP1 p.Arg900Gly
Uncertain significance
Multiple submitters
SRGAP1-related disorder
- SRGAP1 p.Ala1060Val Uncertain significance Single submitter
- SRGAP1 p.Ala15Gly Uncertain significance Single submitter
- SRGAP1 p.Ala636Ser Uncertain significance Single submitter
- SRGAP1 p.Ala759Thr Uncertain significance Single submitter
- SRGAP1 p.Ala846Val Uncertain significance Single submitter
- SRGAP1 p.Arg1026Cys Uncertain significance Single submitter
- SRGAP1 p.Arg1026His Uncertain significance Single submitter
- SRGAP1 p.Arg211Trp Uncertain significance Single submitter
- SRGAP1 p.Arg240Gln Uncertain significance Single submitter
-
SRGAP1 p.Arg240Trp
Uncertain significance
Single submitter
thyroid cancer, nonmedullary, 2
- SRGAP1 p.Arg406His Uncertain significance Single submitter
- SRGAP1 p.Arg496His Uncertain significance Single submitter
- SRGAP1 p.Arg496Pro Uncertain significance Single submitter
- SRGAP1 p.Arg617His Uncertain significance Single submitter
- SRGAP1 p.Arg775Leu Uncertain significance Single submitter
- SRGAP1 p.Arg839Gly Uncertain significance Single submitter
- SRGAP1 p.Arg851Gly Uncertain significance Single submitter
- SRGAP1 p.Arg909Gln Uncertain significance Single submitter
- SRGAP1 p.Arg911Cys Uncertain significance Single submitter
- SRGAP1 p.Arg912Gly Uncertain significance Single submitter
- SRGAP1 p.Arg923Gln Uncertain significance Single submitter
-
SRGAP1 p.Asn648Ser
Uncertain significance
Single submitter
thyroid cancer, nonmedullary, 2
- SRGAP1 p.Asn903His Uncertain significance Single submitter
- SRGAP1 p.Asn903Lys Uncertain significance Single submitter
- SRGAP1 p.Asp1033Glu Uncertain significance Single submitter
- SRGAP1 p.Asp1080Glu Uncertain significance Single submitter
- SRGAP1 p.Asp696Glu Uncertain significance Single submitter
- SRGAP1 p.Asp713Glu Uncertain significance Single submitter
- SRGAP1 p.Asp716Asn Uncertain significance Single submitter
- SRGAP1 p.Asp949Glu Uncertain significance Single submitter
- SRGAP1 p.Cys268Phe Uncertain significance Single submitter
- SRGAP1 p.Cys269Phe Uncertain significance Single submitter
-
SRGAP1 p.Cys269Tyr
Uncertain significance
Single submitter
nephronophthisis
- SRGAP1 p.Cys675Phe Uncertain significance Single submitter
-
SRGAP1 p.Gln149His
Uncertain significance
Single submitter
thyroid cancer, nonmedullary, 2
- SRGAP1 p.Gln344Glu Uncertain significance Single submitter
- SRGAP1 p.Gln388His Uncertain significance Single submitter
- SRGAP1 p.Gln517Arg Uncertain significance Single submitter
- SRGAP1 p.Glu1007Asp Uncertain significance Single submitter
- SRGAP1 p.Glu611Asp Uncertain significance Single submitter
- SRGAP1 p.Gly723Ser Uncertain significance Single submitter
- SRGAP1 p.Gly843Ser Uncertain significance Single submitter
- SRGAP1 p.Gly867Val Uncertain significance Single submitter
- SRGAP1 p.His571Tyr Uncertain significance Single submitter
- SRGAP1 p.Ile1069Thr Uncertain significance Single submitter
- SRGAP1 p.Ile237Thr Uncertain significance Single submitter
- SRGAP1 p.Ile553Thr Uncertain significance Single submitter
- SRGAP1 p.Ile693Val Uncertain significance Single submitter
- SRGAP1 p.Leu582Phe Uncertain significance Single submitter
- SRGAP1 p.Leu623Phe Uncertain significance Single submitter
- SRGAP1 p.Lys618Asn Uncertain significance Single submitter
- SRGAP1 p.Lys831Glu Uncertain significance Single submitter
- SRGAP1 p.Met1041Val Uncertain significance Single submitter
- SRGAP1 p.Met139Thr Uncertain significance Single submitter
- SRGAP1 p.Phe694Ser Uncertain significance Single submitter
- SRGAP1 p.Pro1071Thr Uncertain significance Single submitter
- SRGAP1 p.Pro1078Leu Uncertain significance Single submitter
-
SRGAP1 p.Pro323Thr
Uncertain significance
Single submitter
thyroid cancer, nonmedullary, 2
- SRGAP1 p.Pro329Ser Uncertain significance Single submitter
- SRGAP1 p.Pro4Ser Uncertain significance Single submitter
- SRGAP1 p.Pro665Ser Uncertain significance Single submitter
-
SRGAP1 p.Pro665Thr
Uncertain significance
Single submitter
congenital anomalies of kidney and urinary tract 1
- SRGAP1 p.Pro793Ser Uncertain significance Single submitter
-
SRGAP1 p.Pro856Ala
Uncertain significance
Single submitter
congenital anomaly of kidney and urinary tract
- SRGAP1 p.Pro870Leu Uncertain significance Single submitter
- SRGAP1 p.Pro887Arg Uncertain significance Single submitter
- SRGAP1 p.Ser1036Asn Uncertain significance Single submitter
- SRGAP1 p.Ser19Gly Uncertain significance Single submitter
- SRGAP1 p.Ser819Ile Uncertain significance Single submitter
- SRGAP1 p.Ser820Gly Uncertain significance Single submitter
- SRGAP1 p.Ser830Cys Uncertain significance Single submitter
- SRGAP1 p.Ser835Pro Uncertain significance Single submitter
- SRGAP1 p.Thr1006Met Uncertain significance Single submitter
- SRGAP1 p.Thr1028Met Uncertain significance Single submitter
- SRGAP1 p.Thr1034Pro Uncertain significance Single submitter
- SRGAP1 p.Thr380Ser Uncertain significance Single submitter
-
SRGAP1 p.Thr61Met
Uncertain significance
Single submitter
thyroid cancer, nonmedullary, 2
- SRGAP1 p.Thr945Met Uncertain significance Single submitter
- SRGAP1 p.Tyr284Cys Uncertain significance Single submitter
- SRGAP1 p.Tyr396Cys Uncertain significance Single submitter
- SRGAP1 p.Tyr499Cys Uncertain significance Single submitter
- SRGAP1 p.Tyr844Asn Uncertain significance Single submitter
- SRGAP1 p.Val1015Ile Uncertain significance Single submitter
- SRGAP1 p.Val254Ile Uncertain significance Single submitter
- SRGAP1 p.Val579Ile Uncertain significance Single submitter
-
SRGAP1 p.Arg54Gln
Uncertain significance
No assertion criteria
SRGAP1-related disorder
-
SRGAP1 p.Arg760Lys
Uncertain significance
No assertion criteria
SRGAP1-related disorder
-
SRGAP1 p.Asp267Tyr
Uncertain significance
No assertion criteria
SRGAP1-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
- SRGAP1 p.Ala280Val Uncertain significance Single submitter
- SRGAP1 p.Arg212Gln Uncertain significance Single submitter
- SRGAP1 p.Arg365Cys Uncertain significance Single submitter
- SRGAP1 p.Arg42Gln Uncertain significance Single submitter
- SRGAP1 p.Arg596Gly Uncertain significance Single submitter
- SRGAP1 p.Arg923Trp Uncertain significance Single submitter
- SRGAP1 p.Asp314Asn Uncertain significance Single submitter
- SRGAP1 p.Asp961Asn Uncertain significance Single submitter
- SRGAP1 p.Cys269Gly Uncertain significance Single submitter
- SRGAP1 p.Gly942Glu Uncertain significance Single submitter
- SRGAP1 p.His151Leu Uncertain significance Single submitter
- SRGAP1 p.Leu291Phe Uncertain significance Single submitter
- SRGAP1 p.Lys412Asn Uncertain significance Single submitter
- SRGAP1 p.Lys69Asn Uncertain significance Single submitter
- SRGAP1 p.Met170Ile Uncertain significance Single submitter
- SRGAP1 p.Phe74Leu Uncertain significance Single submitter
- SRGAP1 p.Pro1040Ser Uncertain significance Single submitter
- SRGAP1 p.Ser276Cys Uncertain significance Single submitter
- SRGAP1 p.Ser602Pro Uncertain significance Single submitter
- SRGAP1 p.Ser917Arg Uncertain significance Single submitter
- SRGAP1 p.Tyr419His Uncertain significance Single submitter
- SRGAP1 p.Val704Gly Uncertain significance Single submitter
- SRGAP1 p.Ile688Thr Uncertain significance No assertion criteria
-
SRGAP1 p.Ser2Tyr
Uncertain significance
No assertion criteria
SRGAP1-related disorder
All SRGAP1 variants
Pathogenic 1
- p.Ala275Thr No assertion criteria thyroid cancer, nonmedullary, 2 ⚠
Benign 12
- p.Asn786= Multiple submitters
- p.His875Arg Multiple submitters
- p.His924= Multiple submitters
- p.Ile371= Multiple submitters
- p.Leu953Val Multiple submitters
- p.Thr1028= Multiple submitters
- p.Thr379= Multiple submitters
- p.Thr805= Multiple submitters
- c.1023+29G>A Single submitter
- c.1540-10C>T Single submitter
- c.673-4C>G Single submitter
- p.Ala768= Single submitter
Benign/Likely benign 1
- p.Leu49= Multiple submitters
Likely benign 24
- c.2225-7G>A Multiple submitters thyroid cancer, nonmedullary, 2
- p.Ser569Gly Multiple submitters
- c.1126-8A>G Single submitter
- c.1919+8C>T Single submitter
- c.67+9G>A Single submitter
- p.Arg204= Single submitter
- p.Asn1014= Single submitter
- p.Cys708= Single submitter
- p.Cys715= Single submitter
- p.Gly578= Single submitter
- p.His640= Single submitter
- p.Ile930= Single submitter
- p.Phe511= Single submitter
- p.Pro854= Single submitter
- p.Thr61= Single submitter
- p.Thr945= Single submitter
- c.1323+6C>T No assertion criteria SRGAP1-related disorder
- c.1324-9dup No assertion criteria SRGAP1-related disorder
- c.427-4A>T No assertion criteria SRGAP1-related disorder
- p.Ala185= No assertion criteria SRGAP1-related disorder
- p.Arg312= No assertion criteria SRGAP1-related disorder
- p.Asp789= No assertion criteria SRGAP1-related disorder
- p.His722= No assertion criteria SRGAP1-related disorder
- p.Lys492= No assertion criteria SRGAP1-related disorder
Uncertain significance 120
- p.Arg900Gly Multiple submitters SRGAP1-related disorder ⚠
- p.Ala1060Val Single submitter ⚠
- p.Ala15Gly Single submitter ⚠
- p.Ala227Thr Single submitter
- p.Ala280Val Single submitter ⚠
- p.Ala636Ser Single submitter ⚠
- p.Ala759Thr Single submitter ⚠
- p.Ala846Val Single submitter ⚠
- p.Arg1026Cys Single submitter ⚠
- p.Arg1026His Single submitter ⚠
- p.Arg211Trp Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg240Trp Single submitter thyroid cancer, nonmedullary, 2 ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg496Pro Single submitter ⚠
- p.Arg596Gly Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg775Leu Single submitter ⚠
- p.Arg839Gly Single submitter ⚠
- p.Arg851Gly Single submitter ⚠
- p.Arg909Gln Single submitter ⚠
- p.Arg911Cys Single submitter ⚠
- p.Arg912Gly Single submitter ⚠
- p.Arg923Gln Single submitter ⚠
- p.Arg923Trp Single submitter ⚠
- p.Asn648Ser Single submitter thyroid cancer, nonmedullary, 2 ⚠
- p.Asn903His Single submitter ⚠
- p.Asn903Lys Single submitter ⚠
- p.Asp1033Glu Single submitter ⚠
- p.Asp1080Glu Single submitter ⚠
- p.Asp314Asn Single submitter ⚠
- p.Asp696Glu Single submitter ⚠
- p.Asp713Glu Single submitter ⚠
- p.Asp716Asn Single submitter ⚠
- p.Asp949Glu Single submitter ⚠
- p.Asp961Asn Single submitter ⚠
- p.Cys268Phe Single submitter ⚠
- p.Cys269Gly Single submitter ⚠
- p.Cys269Phe Single submitter ⚠
- p.Cys269Tyr Single submitter nephronophthisis ⚠
- p.Cys269Val Single submitter SRGAP1-related disorder
- p.Cys675Phe Single submitter ⚠
- p.Gln149His Single submitter thyroid cancer, nonmedullary, 2 ⚠
- p.Gln344Glu Single submitter ⚠
- p.Gln388His Single submitter ⚠
- p.Gln517Arg Single submitter ⚠
- p.Gln538fs Single submitter
- p.Glu1007Asp Single submitter ⚠
- p.Glu611Asp Single submitter ⚠
- p.Gly723Ser Single submitter ⚠
- p.Gly843Ser Single submitter ⚠
- p.Gly867Val Single submitter ⚠
- p.Gly942Glu Single submitter ⚠
- p.His151Leu Single submitter ⚠
- p.His571Tyr Single submitter ⚠
- p.Ile1069Thr Single submitter ⚠
- p.Ile237Thr Single submitter ⚠
- p.Ile553Thr Single submitter ⚠
- p.Ile693Val Single submitter ⚠
- p.Leu245fs Single submitter thyroid cancer, nonmedullary, 2
- p.Leu291Phe Single submitter ⚠
- p.Leu582Phe Single submitter ⚠
- p.Leu623Phe Single submitter ⚠
- p.Lys412Asn Single submitter ⚠
- p.Lys502fs Single submitter
- p.Lys618Asn Single submitter ⚠
- p.Lys69Asn Single submitter ⚠
- p.Lys831Glu Single submitter ⚠
- p.Met1041Val Single submitter ⚠
- p.Met139Thr Single submitter ⚠
- p.Met170Ile Single submitter ⚠
- p.Phe694Ser Single submitter ⚠
- p.Phe74Leu Single submitter ⚠
- p.Pro1040Ser Single submitter ⚠
- p.Pro1071Thr Single submitter ⚠
- p.Pro1078Leu Single submitter ⚠
- p.Pro323Thr Single submitter thyroid cancer, nonmedullary, 2 ⚠
- p.Pro329Ser Single submitter ⚠
- p.Pro4Ser Single submitter ⚠
- p.Pro665Ser Single submitter ⚠
- p.Pro665Thr Single submitter congenital anomalies of kidney and urinary tract 1 ⚠
- p.Pro793Ser Single submitter ⚠
- p.Pro856Ala Single submitter congenital anomaly of kidney and urinary tract ⚠
- p.Pro870Leu Single submitter ⚠
- p.Pro887Arg Single submitter ⚠
- p.Ser1036Asn Single submitter ⚠
- p.Ser19Gly Single submitter ⚠
- p.Ser276Cys Single submitter ⚠
- p.Ser602Pro Single submitter ⚠
- p.Ser819Ile Single submitter ⚠
- p.Ser820Gly Single submitter ⚠
- p.Ser830Cys Single submitter ⚠
- p.Ser835Pro Single submitter ⚠
- p.Ser917Arg Single submitter ⚠
- p.Thr1006Met Single submitter ⚠
- p.Thr1028Met Single submitter ⚠
- p.Thr1034Pro Single submitter ⚠
- p.Thr163Met Single submitter
- p.Thr380Ser Single submitter ⚠
- p.Thr61Met Single submitter thyroid cancer, nonmedullary, 2 ⚠
- p.Thr662Ser Single submitter
- p.Thr945Met Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr396Cys Single submitter ⚠
- p.Tyr419His Single submitter ⚠
- p.Tyr499Cys Single submitter ⚠
- p.Tyr844Asn Single submitter ⚠
- p.Val1015Ile Single submitter ⚠
- p.Val254Ile Single submitter ⚠
- p.Val579Ile Single submitter ⚠
- p.Val704Gly Single submitter ⚠
- p.Arg54Gln No assertion criteria SRGAP1-related disorder ⚠
- p.Arg760Lys No assertion criteria SRGAP1-related disorder ⚠
- p.Asp267Tyr No assertion criteria SRGAP1-related disorder ⚠
- p.Ile688Thr No assertion criteria ⚠
- p.Ser2Tyr No assertion criteria SRGAP1-related disorder ⚠