GRIP1 — 811 ClinVar variants
All ClinVar germline GRIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →
13 Pathogenic · 1 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 23 Conflicting · 18 Benign · 10 Benign/Likely benign · 460 Likely benign · 269 Uncertain significance
Full GRIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 225
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 agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GRIP1 p.Glu1123Asp
Conflicting
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly776Glu
Conflicting
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ile549Val
Conflicting
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ile586Leu
Conflicting
Single submitter
Fraser syndrome 3
-
GRIP1 p.Met794Arg
Conflicting
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr798Met
Conflicting
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val129Ala
Conflicting
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val54Ile
Conflicting
Single submitter
Fraser syndrome 3
Predictors lean, ClinVar uncertain 153
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 153
-
GRIP1 p.Ala170Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Ala261Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ala36Val
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ala477Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Arg79Lys
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Arg853Gln
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Arg869Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Arg917Ser
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Arg945His
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Arg957His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Asn274Asp
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Asp598Glu
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Asp627Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Asp777Asn
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Cys273Arg
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Gln1111Arg
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Gly482Arg
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Gly874Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Ile1034Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ile72Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Leu461Met
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Lys31Arg
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Met412Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Met422Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Met438Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Met57Val
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Pro962Leu
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ser26Tyr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ser419Thr
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ser931Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Thr1059Ser
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Thr934Met
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Val141Met
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Val151Ala
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Val480Leu
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Val601Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Ala1072Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ala110Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ala266Val
Uncertain significance
Single submitter
Fraser syndrome 3
- GRIP1 p.Ala315Gly Uncertain significance Single submitter
- GRIP1 p.Ala625Thr Uncertain significance Single submitter
-
GRIP1 p.Ala669Thr
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ala757Ser
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ala878Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ala914Thr
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg1122Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg149Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Arg15Gln Uncertain significance Single submitter
- GRIP1 p.Arg435His Uncertain significance Single submitter
-
GRIP1 p.Arg545Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg678His
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg853Leu
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg917Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg917His
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg945Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg950Gln
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg957Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Arg961Gln Uncertain significance Single submitter
- GRIP1 p.Arg961Trp Uncertain significance Single submitter
-
GRIP1 p.Arg979Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Asn108His
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Asn108Thr
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Asn372Ser
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Asn633Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Asn833Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Asp346Asn
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Asp598Asn
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Asp774Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Asp99Asn
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Cys226Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Cys272Phe
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Gln1053Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gln11Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gln327Glu
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Glu135Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Glu135Lys Uncertain significance Single submitter
-
GRIP1 p.Glu20Lys
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Glu940Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly293Asp
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Gly35Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly877Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.His156Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Ile197Val Uncertain significance Single submitter
-
GRIP1 p.Ile280Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ile506Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ile72Val
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ile994Phe
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Leu1087Val
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Leu252Val
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Leu302Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu619Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu643Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu649Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu749Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys1004Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys198Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys198Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys257Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys31Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys444Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Lys764Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Met220Thr
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Met794Thr
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Met935Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Met935Val
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Phe832Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Pro1113His
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Pro1113Thr Uncertain significance Single submitter
-
GRIP1 p.Pro32Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Pro596Ser
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Pro693Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Pro763Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Pro852Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Pro997Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser144Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser28Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser406Phe
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser43Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser535Asn
Uncertain significance
Single submitter
Fraser syndrome 3
- GRIP1 p.Ser551Asn Uncertain significance Single submitter
-
GRIP1 p.Ser69Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser69Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser761Leu
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser782Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser828Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser881Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser959Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser960Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser960Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser970Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr1127Ile
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr161Ala
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr196Met
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr258Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr324Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr325Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr52Ala
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr550Met
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Thr820Ser
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Trp1102Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Tyr864Cys
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val139Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Val151Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Val185Ile
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val240Ile
Uncertain significance
Single submitter
Fraser syndrome 3
- GRIP1 p.Val473Ile Uncertain significance Single submitter
-
GRIP1 p.Val474Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Val574Ala
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val582Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Val640Ile
Uncertain significance
Single submitter
Fraser syndrome 3
Predictors split 64
The independent predictors disagree with each other — read with care.
-
GRIP1 p.Ala894Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Arg113His
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Asn528Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Glu60Lys
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Glu993Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Gly200Ser
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Gly208Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Gly811Glu
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ile506Met
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Lys176Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Lys595Asn
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Lys606Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Ser498Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Thr432Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRIP1 p.Val1067Leu
Uncertain significance
Multiple submitters
Fraser syndrome 3
-
GRIP1 p.Ala1021Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ala713Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg127Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg210Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Arg514Ser
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Arg969Trp
Uncertain significance
Single submitter
Fraser syndrome 3
- GRIP1 p.Asn1033Lys Uncertain significance Single submitter
- GRIP1 p.Asn1085Lys Uncertain significance Single submitter
- GRIP1 p.Asp1010Asn Uncertain significance Single submitter
-
GRIP1 p.Asp810Val
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Cys646Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Gln464His
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Glu1001Lys Uncertain significance Single submitter
-
GRIP1 p.Glu229Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Glu507Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Glu507Val Uncertain significance Single submitter
-
GRIP1 p.Glu538Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Glu663Ala
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Glu665Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly463Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly668Arg
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Gly680Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Gly902Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ile1071Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu295Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Leu702Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Lys198Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Phe112Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Phe890Leu
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser1083Gly
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser308Gly
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser411Cys
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser411Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser433Ile
Likely pathogenic
Single submitter
Abnormal brain morphology
-
GRIP1 p.Ser450Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Ser808Leu
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Ser970Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Thr150Ile Uncertain significance Single submitter
-
GRIP1 p.Thr470Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr494Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr52Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- GRIP1 p.Trp891Ser Uncertain significance Single submitter
-
GRIP1 p.Val1005Met
Likely benign
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val1067Ala
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val244Met
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val491Met
Uncertain significance
Single submitter
Fraser syndrome 3
-
GRIP1 p.Val53Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRIP1 p.Thr215Ala
Likely benign
No assertion criteria
GRIP1-related disorder
- GRIP1 p.Thr536Ile Uncertain significance No assertion criteria
All GRIP1 variants
Pathogenic 13
- p.Arg523fs Single submitter
- p.Arg545Ter Single submitter
- p.Arg719Ter Single submitter
- p.Arg917fs Single submitter
- p.Gly169Ter Single submitter
- p.Leu926fs Single submitter
- p.Lys224fs Single submitter
- p.Met923_Thr924delinsThrTrpTer Single submitter
- p.Pro962fs Single submitter
- p.Val146fs Single submitter
- c.2269+1G>C No assertion criteria Fraser syndrome 3
- p.Gln644Ter No assertion criteria Fraser syndrome 3
- p.Lys446fs No assertion criteria Fraser syndrome 3
Pathogenic/Likely pathogenic 1
- p.Cys10Ter Multiple submitters Fraser syndrome 3
Likely pathogenic 17
- c.1199-1G>A Multiple submitters Fraser syndrome 1
- c.1199-2del Multiple submitters Fraser syndrome 3
- c.1199-2A>G Single submitter Fraser syndrome 3
- c.1355-8_1357del Single submitter
- c.136+1G>T Single submitter
- c.137-1G>A Single submitter
- c.1618_1619insTATATCTCCATTATTACAGCACCAT Single submitter Fraser syndrome 3
- c.1688-1G>C Single submitter Fraser syndrome 3
- c.1769-1G>A Single submitter
- c.503-2del Single submitter
- c.955_1042+867del Single submitter
- p.Arg427Ter Single submitter Fraser syndrome 3
- p.Leu429fs Single submitter Fraser syndrome 3
- p.Ser433Ile Single submitter Abnormal brain morphology ⚠
- p.Ser69Ter Single submitter Fraser syndrome 3
- p.Val39fs Single submitter Fraser syndrome 3
- p.Val4fs Single submitter Fraser syndrome 1
Conflicting classifications of pathogenicity 23
- c.1688-6T>C Single submitter Fraser syndrome 3
- c.419-11C>T Single submitter Fraser syndrome 3
- c.872+7A>G Single submitter Fraser syndrome 3
- p.Arg15Ter Single submitter Fraser syndrome 3
- p.Asn938= Single submitter Fraser syndrome 3
- p.Asp115= Single submitter Fraser syndrome 3
- p.Glu1123Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1075Arg Single submitter Fraser syndrome 3
- p.Gly423= Single submitter Fraser syndrome 3
- p.Gly570= Single submitter Fraser syndrome 3
- p.Gly776Glu Single submitter Inborn genetic diseases ⚠
- p.Ile549Val Single submitter Fraser syndrome 3 ⚠
- p.Ile586Leu Single submitter Fraser syndrome 3 ⚠
- p.Met794Arg Single submitter Fraser syndrome 3 ⚠
- p.Phe1016= Single submitter Fraser syndrome 3
- p.Ser1074= Single submitter Fraser syndrome 3
- p.Ser931= Single submitter Fraser syndrome 3
- p.Thr476= Single submitter Fraser syndrome 3
- p.Thr798= Single submitter Fraser syndrome 3
- p.Thr798Met Single submitter Fraser syndrome 3 ⚠
- p.Val129Ala Single submitter Fraser syndrome 3 ⚠
- p.Val54Ile Single submitter Fraser syndrome 3 ⚠
- p.Val80= Single submitter Fraser syndrome 3
Benign 18
- c.1355-10_1355-8del Multiple submitters
- c.1838+13G>T Multiple submitters Fraser syndrome 3
- c.2464+15T>C Multiple submitters Fraser syndrome 3
- c.418+26A>G Multiple submitters Fraser syndrome 3
- c.503-15C>A Multiple submitters Fraser syndrome 3
- c.724+10G>A Multiple submitters Fraser syndrome 3
- c.725-19A>G Multiple submitters
- c.*428C>T Multiple submitters Fraser syndrome 3
- c.*616T>C Multiple submitters Fraser syndrome 3
- p.Ala231Val Multiple submitters Fraser syndrome 3
- p.Ala322Thr Multiple submitters Fraser syndrome 3
- p.Gln821Glu Multiple submitters Fraser syndrome 3
- c.1354+19A>G Single submitter
- c.1541+20A>G Single submitter
- c.1687+19_1687+20insTCAAGTCAGTGACAGAG Single submitter
- c.418+19dup Single submitter
- c.502+20del Single submitter
- p.Gly19Ala No assertion criteria GRIP1-related disorder
Benign/Likely benign 10
- c.1199-7C>G Multiple submitters Fraser syndrome 3
- c.1687+12T>C Multiple submitters Fraser syndrome 3
- c.1688-3T>C Multiple submitters Fraser syndrome 3
- c.273-9A>G Multiple submitters
- c.418+14C>A Multiple submitters Fraser syndrome 3
- p.Arg869Gln Multiple submitters Fraser syndrome 3
- p.Gly463= Multiple submitters Fraser syndrome 3
- p.Pro596Arg Multiple submitters Fraser syndrome 3
- p.Ser761= Multiple submitters Fraser syndrome 3
- p.Ser960= Multiple submitters Fraser syndrome 3
Likely benign 460
Showing the top 300 by review status; the full set is in the sitemap.
- c.1687+13C>T Multiple submitters
- c.418+9A>G Multiple submitters
- c.55+9C>A Multiple submitters Fraser syndrome 3
- c.579-8C>T Multiple submitters Fraser syndrome 3
- c.873-3T>C Multiple submitters
- c.*1314G>A Multiple submitters Fraser syndrome 3
- p.Gly597= Multiple submitters Fraser syndrome 3
- p.Leu267= Multiple submitters
- p.Lys74= Multiple submitters
- p.Ser69= Multiple submitters
- p.Thr307= Multiple submitters
- p.Val53= Multiple submitters
- c.1042+11C>A Single submitter
- c.1042+12C>T Single submitter
- c.1042+15C>T Single submitter
- c.1042+16T>C Single submitter
- c.1042+18G>C Single submitter
- c.1199-11CT[2] Single submitter
- c.1199-18G>A Single submitter
- c.1199-19C>T Single submitter
- c.1199-7C>T Single submitter
- c.1199-9C>T Single submitter
- c.1354+18C>T Single submitter
- c.1354+20del Single submitter
- c.1355-10G>T Single submitter
- c.1355-4C>G Single submitter
- c.1355-9T>C Single submitter
- c.136+16T>C Single submitter
- c.136+16T>G Single submitter
- c.136+17G>A Single submitter
- c.136+8C>T Single submitter
- c.137-14T>C Single submitter
- c.137-14T>G Single submitter
- c.1541+10T>C Single submitter
- c.1541+12T>C Single submitter
- c.1541+13C>G Single submitter
- c.1541+14T>G Single submitter
- c.1541+16T>C Single submitter
- c.1541+16T>G Single submitter
- c.1541+17C>G Single submitter
- c.1542-13_1542-11del Single submitter
- c.1542-17A>G Single submitter
- c.1687+11A>G Single submitter
- c.1687+5_1687+16dup Single submitter
- c.1687+9A>G Single submitter
- c.1688-13G>A Single submitter
- c.1688-14T>C Single submitter
- c.1688-7A>G Single submitter
- c.1688-7A>T Single submitter
- c.1688-8G>C Single submitter
- c.1688-8G>T Single submitter
- c.1768+10del Single submitter
- c.1768+8G>T Single submitter
- c.1769-10A>G Single submitter
- c.1769-11del Single submitter
- c.1769-13T>C Single submitter
- c.1769-16A>G Single submitter
- c.1769-19T>C Single submitter
- c.1769-4A>G Single submitter
- c.1838+12G>A Single submitter
- c.1838+15T>C Single submitter
- c.1838+7A>C Single submitter
- c.1839-11T>C Single submitter
- c.1839-14G>T Single submitter
- c.1839-16T>C Single submitter
- c.1984+12A>G Single submitter
- c.1985-11A>C Single submitter
- c.1985-17C>T Single submitter
- c.1985-7A>G Single submitter
- c.2129+10G>A Single submitter
- c.2129+12A>C Single submitter
- c.2129+19_2129+20del Single submitter
- c.2130-14A>G Single submitter
- c.2130-15T>A Single submitter
- c.2130-15T>C Single submitter
- c.2130-4T>A Single submitter
- c.2269+10G>A Single submitter
- c.2269+8G>T Single submitter
- c.2270-13C>T Single submitter
- c.2270-17C>G Single submitter
- c.2270-17C>T Single submitter
- c.2270-20C>T Single submitter
- c.2270-8C>G Single submitter
- c.2270-9T>C Single submitter
- c.2464+10T>C Single submitter
- c.2464+17T>C Single submitter
- c.2464+18C>T Single submitter
- c.2464+20C>G Single submitter
- c.2465-12T>C Single submitter
- c.2465-16C>G Single submitter
- c.2465-17C>T Single submitter
- c.2465-19C>A Single submitter
- c.2465-19C>T Single submitter
- c.2465-9A>G Single submitter
- c.2621+11C>A Single submitter
- c.2621+13A>G Single submitter
- c.2621+14C>A Single submitter
- c.2621+18T>G Single submitter
- c.2621+7T>A Single submitter
- c.2622-17G>A Single submitter
- c.2622-19C>A Single submitter
- c.2622-7A>G Single submitter
- c.2622-8G>T Single submitter
- c.272+12T>C Single submitter
- c.272+14G>C Single submitter
- c.272+16G>T Single submitter
- c.272+18A>G Single submitter
- c.272+19A>T Single submitter
- c.272+20A>G Single submitter
- c.273-11C>A Single submitter
- c.273-6T>C Single submitter
- c.2733+10G>T Single submitter
- c.2733+14T>G Single submitter
- c.2733+17T>C Single submitter
- c.2733+18A>G Single submitter
- c.2733+8T>C Single submitter
- c.2733+9G>A Single submitter
- c.2733+9G>C Single submitter
- c.2734-10C>T Single submitter
- c.2734-11C>A Single submitter
- c.2734-12C>T Single submitter
- c.2734-6C>T Single submitter
- c.2734-9T>C Single submitter
- c.2778+11T>G Single submitter
- c.2778+12_2778+13dup Single submitter
- c.2778+13_2778+15del Single submitter
- c.2778+15T>A Single submitter
- c.2778+8_2778+12del Single submitter
- c.2778+8C>T Single submitter
- c.2779-12T>C Single submitter
- c.2779-15T>C Single submitter
- c.2779-16A>G Single submitter
- c.2779-18_2779-16del Single submitter
- c.2779-4A>G Single submitter
- c.2779-5C>T Single submitter
- c.2779-7G>A Single submitter
- c.3012+14C>T Single submitter
- c.3012+15T>A Single submitter
- c.3012+19C>T Single submitter
- c.3012+9G>A Single submitter
- c.3013-15A>G Single submitter
- c.3013-15A>T Single submitter
- c.3013-17C>G Single submitter
- c.3013-18C>G Single submitter
- c.3013-19T>C Single submitter
- c.3013-6C>T Single submitter
- c.3159+11A>G Single submitter
- c.3159+13G>A Single submitter
- c.3160-13C>T Single submitter
- c.3160-19G>A Single submitter
- c.3160-4T>G Single submitter
- c.3160-8C>A Single submitter
- c.3160-9A>G Single submitter
- c.418+10G>C Single submitter
- c.418+11T>C Single submitter
- c.418+14C>T Single submitter
- c.418+18C>T Single submitter
- c.418+19C>A Single submitter
- c.418+19C>G Single submitter
- c.418+20T>A Single submitter
- c.418+7A>C Single submitter
- c.418+8_418+12del Single submitter
- c.419-14_419-11del Single submitter
- c.419-19C>G Single submitter
- c.419-6A>G Single submitter
- c.419-6A>T Single submitter
- c.419-8T>A Single submitter
- c.502+13T>C Single submitter
- c.502+16A>G Single submitter
- c.503-15C>G Single submitter
- c.503-20C>G Single submitter
- c.503-20C>T Single submitter
- c.503-9C>G Single submitter
- c.55+12T>C Single submitter
- c.55+17G>C Single submitter
- c.55+20A>G Single submitter
- c.55+3_55+7dup Single submitter
- c.55+32780T>C Single submitter
- c.56-14T>A Single submitter
- c.56-20G>A Single submitter
- c.56-5del Single submitter
- c.578+11T>A Single submitter
- c.578+16_578+17del Single submitter
- c.578+8_578+9del Single submitter
- c.579-10C>A Single submitter
- c.579-10C>G Single submitter
- c.579-18C>G Single submitter
- c.579-18C>T Single submitter
- c.579-7C>G Single submitter
- c.724+11G>A Single submitter
- c.724+3_724+6dup Single submitter
- c.725-9C>A Single submitter
- c.872+10G>A Single submitter
- c.872+13G>A Single submitter
- c.872+16A>G Single submitter
- c.872+18T>C Single submitter
- c.872+19_872+21del Single submitter
- c.872+19G>T Single submitter
- c.872+20C>G Single submitter
- c.872+9T>C Single submitter
- c.873-10C>T Single submitter
- c.873-12T>C Single submitter
- c.873-14T>A Single submitter
- c.873-20A>C Single submitter
- c.873-4G>A Single submitter
- c.873-4G>T Single submitter
- c.873-5C>T Single submitter
- c.873-6C>A Single submitter
- c.*234G>A Single submitter Fraser syndrome 3
- c.*499A>G Single submitter Fraser syndrome 3
- p.Ala110= Single submitter
- p.Ala170= Single submitter
- p.Ala191= Single submitter
- p.Ala245= Single submitter
- p.Ala247= Single submitter
- p.Ala289= Single submitter
- p.Ala294= Single submitter
- p.Ala341= Single submitter
- p.Ala36= Single submitter
- p.Ala414= Single submitter
- p.Ala477= Single submitter
- p.Ala625= Single submitter
- p.Ala639= Single submitter
- p.Ala708= Single submitter
- p.Ala805= Single submitter
- p.Ala879= Single submitter
- p.Ala894= Single submitter
- p.Arg1122= Single submitter
- p.Arg113= Single submitter
- p.Arg339= Single submitter
- p.Arg441= Single submitter
- p.Arg719= Single submitter
- p.Arg84= Single submitter
- p.Arg916= Single submitter
- p.Arg917= Single submitter
- p.Arg945= Single submitter
- p.Asn123= Single submitter
- p.Asn160= Single submitter
- p.Asn274= Single submitter
- p.Asn421= Single submitter
- p.Asn528= Single submitter
- p.Asn628= Single submitter
- p.Asn724= Single submitter
- p.Asn831= Single submitter
- p.Asn833= Single submitter
- p.Asp1015= Single submitter
- p.Asp1041= Single submitter
- p.Asp1049= Single submitter
- p.Asp1079= Single submitter
- p.Asp1101= Single submitter
- p.Asp173= Single submitter
- p.Asp281= Single submitter
- p.Asp478= Single submitter
- p.Asp598= Single submitter
- p.Asp604= Single submitter
- p.Asp638= Single submitter
- p.Asp659= Single submitter
- p.Asp75= Single submitter
- p.Asp774= Single submitter
- p.Asp810= Single submitter
- p.Cys646= Single submitter
- p.Cys901= Single submitter
- p.Gln1095= Single submitter
- p.Gln1112= Single submitter
- p.Gln225= Single submitter
- p.Gln486= Single submitter
- p.Gln488= Single submitter
- p.Gln641= Single submitter
- p.Gln645= Single submitter
- p.Glu1123= Single submitter
- p.Glu152= Single submitter
- p.Glu20= Single submitter
- p.Glu229= Single submitter
- p.Glu310= Single submitter
- p.Glu513= Single submitter
- p.Glu563= Single submitter
- p.Glu663= Single submitter
- p.Glu745= Single submitter
- p.Glu883= Single submitter
- p.Gly1023= Single submitter
- p.Gly1075= Single submitter
- p.Gly264= Single submitter
- p.Gly293= Single submitter
- p.Gly484= Single submitter
- p.Gly615= Single submitter
- p.Gly668= Single submitter
- p.Gly680= Single submitter
- p.Gly681= Single submitter
- p.Gly712= Single submitter
- p.Gly776= Single submitter
- p.Gly789= Single submitter
- p.Gly811= Single submitter
- p.Gly861= Single submitter
- p.His1003= Single submitter
- p.His1056= Single submitter
- p.His1115= Single submitter
- p.His296= Single submitter
- p.His467= Single submitter
- p.His580= Single submitter
- p.Ile1034= Single submitter
Uncertain significance 269
- c.55+3A>C Multiple submitters Fraser syndrome 3
- c.-172A>G Multiple submitters Fraser syndrome 3
- c.*99G>A Multiple submitters Fraser syndrome 3
- p.Ala170Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala261Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Ala36Val Multiple submitters Fraser syndrome 3 ⚠
- p.Ala477Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Ala894Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg113His Multiple submitters Fraser syndrome 3 ⚠
- p.Arg339Trp Multiple submitters Fraser syndrome 3
- p.Arg435Cys Multiple submitters Fraser syndrome 3
- p.Arg79Lys Multiple submitters Fraser syndrome 3 ⚠
- p.Arg853Gln Multiple submitters Fraser syndrome 3 ⚠
- p.Arg869Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg917Ser Multiple submitters Fraser syndrome 3 ⚠
- p.Arg945His Multiple submitters Fraser syndrome 3 ⚠
- p.Arg957His Multiple submitters Inborn genetic diseases ⚠
- p.Asn274Asp Multiple submitters Fraser syndrome 3 ⚠
- p.Asn528Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp598Glu Multiple submitters Fraser syndrome 3 ⚠
- p.Asp627Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp777Asn Multiple submitters Fraser syndrome 3 ⚠
- p.Cys273Arg Multiple submitters Fraser syndrome 3 ⚠
- p.Gln1111Arg Multiple submitters Fraser syndrome 3 ⚠
- p.Glu60Lys Multiple submitters Fraser syndrome 3 ⚠
- p.Glu993Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly200Ser Multiple submitters Fraser syndrome 3 ⚠
- p.Gly208Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly482Arg Multiple submitters Fraser syndrome 3 ⚠
- p.Gly811Glu Multiple submitters Fraser syndrome 3 ⚠
- p.Gly874Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile1034Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Ile506Met Multiple submitters Fraser syndrome 3 ⚠
- p.Ile72Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Leu461Met Multiple submitters Fraser syndrome 3 ⚠
- p.Lys176Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys31Arg Multiple submitters Fraser syndrome 3 ⚠
- p.Lys595Asn Multiple submitters Fraser syndrome 3 ⚠
- p.Lys606Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met412Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Met422Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Met438Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met57Val Multiple submitters Fraser syndrome 3 ⚠
- p.Pro962Leu Multiple submitters Fraser syndrome 3 ⚠
- p.Ser26Tyr Multiple submitters Fraser syndrome 3 ⚠
- p.Ser419Thr Multiple submitters Fraser syndrome 3 ⚠
- p.Ser498Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser931Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr1059Ser Multiple submitters Fraser syndrome 3 ⚠
- p.Thr432Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr934Met Multiple submitters Fraser syndrome 3 ⚠
- p.Val1067Leu Multiple submitters Fraser syndrome 3 ⚠
- p.Val141Met Multiple submitters Fraser syndrome 3 ⚠
- p.Val151Ala Multiple submitters Fraser syndrome 3 ⚠
- p.Val480Leu Multiple submitters Fraser syndrome 3 ⚠
- p.Val601Ile Multiple submitters Inborn genetic diseases ⚠
- c.1542-12G>T Single submitter Fraser syndrome 3
- c.2464+2T>A Single submitter Inborn genetic diseases
- c.2464+3A>G Single submitter
- c.2733+3A>G Single submitter Fraser syndrome 3
- c.3012+5G>A Single submitter
- c.55+3A>G Single submitter
- c.55+6G>A Single submitter
- c.-158G>A Single submitter Fraser syndrome 3
- c.-165A>C Single submitter Fraser syndrome 3
- c.*1019C>T Single submitter Fraser syndrome 3
- c.*1149A>G Single submitter Fraser syndrome 3
- c.*1216G>T Single submitter Fraser syndrome 3
- c.*1262T>A Single submitter Fraser syndrome 3
- c.*1287A>T Single submitter Fraser syndrome 3
- c.*1328G>A Single submitter Fraser syndrome 3
- c.*138C>T Single submitter Fraser syndrome 3
- c.*1511G>A Single submitter Fraser syndrome 3
- c.*228C>A Single submitter Fraser syndrome 3
- c.*235G>T Single submitter Fraser syndrome 3
- c.*417G>A Single submitter Fraser syndrome 3
- c.*4C>T Single submitter Fraser syndrome 3
- c.*611T>C Single submitter Fraser syndrome 3
- c.*617G>A Single submitter Fraser syndrome 3
- c.*667C>T Single submitter Fraser syndrome 3
- c.*679dup Single submitter
- c.*716T>C Single submitter Fraser syndrome 3
- c.*821T>G Single submitter Fraser syndrome 3
- c.*832G>C Single submitter Fraser syndrome 3
- c.*915T>C Single submitter Fraser syndrome 3
- c.*930T>A Single submitter Fraser syndrome 3
- c.*93A>G Single submitter Fraser syndrome 3
- p.Ala1021Val Single submitter Inborn genetic diseases ⚠
- p.Ala1072Gly Single submitter Inborn genetic diseases ⚠
- p.Ala110Thr Single submitter Inborn genetic diseases ⚠
- p.Ala266Val Single submitter Fraser syndrome 3 ⚠
- p.Ala315Gly Single submitter ⚠
- p.Ala625Thr Single submitter ⚠
- p.Ala669Thr Single submitter Fraser syndrome 3 ⚠
- p.Ala713Thr Single submitter Inborn genetic diseases ⚠
- p.Ala757Ser Single submitter Fraser syndrome 3 ⚠
- p.Ala878Thr Single submitter Inborn genetic diseases ⚠
- p.Ala90= Single submitter Fraser syndrome 3
- p.Ala914Thr Single submitter Fraser syndrome 3 ⚠
- p.Arg1122Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1122Ter Single submitter
- p.Arg127Gly Single submitter Inborn genetic diseases ⚠
- p.Arg149Gln Single submitter Inborn genetic diseases ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg178His Single submitter
- p.Arg210Trp Single submitter Inborn genetic diseases ⚠
- p.Arg435His Single submitter ⚠
- p.Arg514Ser Single submitter Fraser syndrome 3 ⚠
- p.Arg545Gln Single submitter Inborn genetic diseases ⚠
- p.Arg678His Single submitter Fraser syndrome 3 ⚠
- p.Arg719Gln Single submitter Fraser syndrome 3
- p.Arg853Leu Single submitter Fraser syndrome 3 ⚠
- p.Arg917Cys Single submitter Inborn genetic diseases ⚠
- p.Arg917His Single submitter Fraser syndrome 3 ⚠
- p.Arg945Cys Single submitter Inborn genetic diseases ⚠
- p.Arg950Gln Single submitter Fraser syndrome 3 ⚠
- p.Arg957Cys Single submitter Inborn genetic diseases ⚠
- p.Arg961Gln Single submitter ⚠
- p.Arg961Trp Single submitter ⚠
- p.Arg969Trp Single submitter Fraser syndrome 3 ⚠
- p.Arg979Gly Single submitter Inborn genetic diseases ⚠
- p.Asn1033Lys Single submitter ⚠
- p.Asn1085Lys Single submitter ⚠
- p.Asn108His Single submitter Fraser syndrome 3 ⚠
- p.Asn108Thr Single submitter Fraser syndrome 3 ⚠
- p.Asn372Ser Single submitter Fraser syndrome 3 ⚠
- p.Asn633Ser Single submitter Inborn genetic diseases ⚠
- p.Asn833Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1010Asn Single submitter ⚠
- p.Asp346Asn Single submitter Fraser syndrome 3 ⚠
- p.Asp478Glu Single submitter Inborn genetic diseases
- p.Asp598Asn Single submitter Fraser syndrome 3 ⚠
- p.Asp774Glu Single submitter Inborn genetic diseases ⚠
- p.Asp810Val Single submitter Fraser syndrome 3 ⚠
- p.Asp815His Single submitter Fraser syndrome 3
- p.Asp99Asn Single submitter Fraser syndrome 3 ⚠
- p.Cys226Arg Single submitter Fraser syndrome 3 ⚠
- p.Cys272Phe Single submitter Fraser syndrome 3 ⚠
- p.Cys646Arg Single submitter Fraser syndrome 3 ⚠
- p.Gln1053Lys Single submitter Inborn genetic diseases ⚠
- p.Gln11Arg Single submitter Inborn genetic diseases ⚠
- p.Gln327Glu Single submitter Fraser syndrome 3 ⚠
- p.Gln464His Single submitter Inborn genetic diseases ⚠
- p.Gln488Arg Single submitter Inborn genetic diseases
- p.Glu1001Lys Single submitter ⚠
- p.Glu135Gln Single submitter Inborn genetic diseases ⚠
- p.Glu135Lys Single submitter ⚠
- p.Glu152Gly Single submitter Inborn genetic diseases
- p.Glu20Lys Single submitter Fraser syndrome 3 ⚠
- p.Glu229Lys Single submitter Inborn genetic diseases ⚠
- p.Glu507Lys Single submitter Inborn genetic diseases ⚠
- p.Glu507Val Single submitter ⚠
- p.Glu538Lys Single submitter Inborn genetic diseases ⚠
- p.Glu663Ala Single submitter Fraser syndrome 3 ⚠
- p.Glu665Val Single submitter Inborn genetic diseases ⚠
- p.Glu940Asp Single submitter Inborn genetic diseases ⚠
- p.Gly293Asp Single submitter Fraser syndrome 3 ⚠
- p.Gly35Arg Single submitter Inborn genetic diseases ⚠
- p.Gly463Arg Single submitter Inborn genetic diseases ⚠
- p.Gly668Arg Single submitter Fraser syndrome 3 ⚠
- p.Gly680Glu Single submitter Inborn genetic diseases ⚠
- p.Gly877Arg Single submitter Fraser syndrome 3 ⚠
- p.Gly902Arg Single submitter Inborn genetic diseases ⚠
- p.Gly949Glu Single submitter Fraser syndrome 3
- p.His156Arg Single submitter Inborn genetic diseases ⚠
- p.Ile1071Val Single submitter Inborn genetic diseases ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile280Val Single submitter Inborn genetic diseases ⚠
- p.Ile506Val Single submitter Inborn genetic diseases ⚠
- p.Ile72Val Single submitter Fraser syndrome 3 ⚠
- p.Ile994Phe Single submitter Fraser syndrome 3 ⚠
- p.Leu1087Val Single submitter Fraser syndrome 3 ⚠
- p.Leu1128Ter Single submitter Fraser syndrome 3
- p.Leu252Val Single submitter Fraser syndrome 3 ⚠
- p.Leu263Val Single submitter Fraser syndrome 3
- p.Leu295Phe Single submitter Inborn genetic diseases ⚠
- p.Leu302Phe Single submitter Inborn genetic diseases ⚠
- p.Leu333Val Single submitter Inborn genetic diseases
- p.Leu619Pro Single submitter Inborn genetic diseases ⚠
- p.Leu643Phe Single submitter Inborn genetic diseases ⚠
- p.Leu649Val Single submitter Inborn genetic diseases ⚠
- p.Leu702Ile Single submitter Inborn genetic diseases ⚠
- p.Leu749Phe Single submitter Inborn genetic diseases ⚠
- p.Lys1004Arg Single submitter Inborn genetic diseases ⚠
- p.Lys198Asn Single submitter Inborn genetic diseases ⚠
- p.Lys198Gln Single submitter Inborn genetic diseases ⚠
- p.Lys198Thr Single submitter Inborn genetic diseases ⚠
- p.Lys257Arg Single submitter Inborn genetic diseases ⚠
- p.Lys31Asn Single submitter Inborn genetic diseases ⚠
- p.Lys444Arg Single submitter Fraser syndrome 3 ⚠
- p.Lys764Arg Single submitter Fraser syndrome 3 ⚠
- p.Lys841= Single submitter
- p.Met1Val Single submitter
- p.Met220Thr Single submitter Fraser syndrome 3 ⚠
- p.Met794Thr Single submitter Fraser syndrome 3 ⚠
- p.Met935Ile Single submitter Inborn genetic diseases ⚠
- p.Met935Val Single submitter Fraser syndrome 3 ⚠
- p.Phe112Cys Single submitter Inborn genetic diseases ⚠
- p.Phe832Cys Single submitter Inborn genetic diseases ⚠
- p.Phe890Leu Single submitter Fraser syndrome 3 ⚠
- p.Pro1113His Single submitter Inborn genetic diseases ⚠
- p.Pro1113Thr Single submitter ⚠
- p.Pro32Leu Single submitter Inborn genetic diseases ⚠
- p.Pro334= Single submitter
- p.Pro596Ser Single submitter Fraser syndrome 3 ⚠
- p.Pro693Leu Single submitter Inborn genetic diseases ⚠
- p.Pro763Leu Single submitter Inborn genetic diseases ⚠
- p.Pro852Arg Single submitter Inborn genetic diseases ⚠
- p.Pro997Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1083Gly Single submitter Fraser syndrome 3 ⚠
- p.Ser144Pro Single submitter Inborn genetic diseases ⚠
- p.Ser28Gly Single submitter Inborn genetic diseases ⚠
- p.Ser308Gly Single submitter Fraser syndrome 3 ⚠
- p.Ser406Phe Single submitter Fraser syndrome 3 ⚠
- p.Ser411Cys Single submitter Fraser syndrome 3 ⚠
- p.Ser411Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser43Gly Single submitter Inborn genetic diseases ⚠
- p.Ser450Asn Single submitter Inborn genetic diseases ⚠
- p.Ser535Asn Single submitter Fraser syndrome 3 ⚠
- p.Ser551Asn Single submitter ⚠
- p.Ser69Leu Single submitter Inborn genetic diseases ⚠
- p.Ser69Trp Single submitter Inborn genetic diseases ⚠
- p.Ser761Leu Single submitter Fraser syndrome 3 ⚠
- p.Ser782Phe Single submitter Inborn genetic diseases ⚠
- p.Ser804Gly Single submitter Fraser syndrome 3
- p.Ser808Leu Single submitter Fraser syndrome 3 ⚠
- p.Ser828Ala Single submitter Inborn genetic diseases ⚠
- p.Ser881Arg Single submitter Fraser syndrome 3 ⚠
- p.Ser959Gly Single submitter Inborn genetic diseases ⚠
- p.Ser960Leu Single submitter Inborn genetic diseases ⚠
- p.Ser960Trp Single submitter Inborn genetic diseases ⚠
- p.Ser970Arg Single submitter Inborn genetic diseases ⚠
- p.Ser970Asn Single submitter Inborn genetic diseases ⚠
- p.Thr1127Ile Single submitter Fraser syndrome 3 ⚠
- p.Thr150Ile Single submitter ⚠
- p.Thr161Ala Single submitter Fraser syndrome 3 ⚠
- p.Thr196Met Single submitter Fraser syndrome 3 ⚠
- p.Thr258Ile Single submitter Inborn genetic diseases ⚠
- p.Thr324Ala Single submitter Inborn genetic diseases ⚠
- p.Thr325Pro Single submitter Inborn genetic diseases ⚠
- p.Thr470Ala Single submitter Inborn genetic diseases ⚠
- p.Thr494Ala Single submitter Inborn genetic diseases ⚠
- p.Thr52Ala Single submitter Fraser syndrome 3 ⚠
- p.Thr52Ile Single submitter Inborn genetic diseases ⚠
- p.Thr550Met Single submitter Fraser syndrome 3 ⚠
- p.Thr820Ser Single submitter Fraser syndrome 3 ⚠
- p.Trp1102Arg Single submitter Fraser syndrome 3 ⚠
- p.Trp891Ser Single submitter ⚠
- p.Tyr864Cys Single submitter Fraser syndrome 3 ⚠
- p.Val1067Ala Single submitter Fraser syndrome 3 ⚠
- p.Val139Ile Single submitter Inborn genetic diseases ⚠
- p.Val151Met Single submitter Inborn genetic diseases ⚠
- p.Val185Ile Single submitter Fraser syndrome 3 ⚠
- p.Val240Ile Single submitter Fraser syndrome 3 ⚠
- p.Val244Met Single submitter Fraser syndrome 3 ⚠
- p.Val473Ile Single submitter ⚠
- p.Val474Met Single submitter Inborn genetic diseases ⚠
- p.Val491Met Single submitter Fraser syndrome 3 ⚠
- p.Val53Ala Single submitter Inborn genetic diseases ⚠
- p.Val574Ala Single submitter Fraser syndrome 3 ⚠
- p.Val582Met Single submitter Inborn genetic diseases ⚠
- p.Val640Ile Single submitter Fraser syndrome 3 ⚠
- p.Val806Ala Single submitter Inborn genetic diseases
- p.Val80Ala Single submitter Fraser syndrome 3 ⚠
- p.Arg630Trp No assertion criteria GRIP1-related disorder ⚠
- p.Asp34Ala No assertion criteria GRIP1-related disorder ⚠
- p.Phe890del No assertion criteria
- p.Thr536Ile No assertion criteria ⚠
- p.Thr587Lys No assertion criteria