All variants in the KRIT1 gene


This database is one of the "Vascular anomalies and lymphedema" gene variant databases.
Information The variants shown are described using the NM_194454.1 transcript reference sequence.

252 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_3i c.(?_-892_(-3+1_-2-1)del r.? p.? - pathogenic g.(91871452_91873315)_(91875212_?)del - - - KRIT1_000020 - PubMed: Mondejar 2014 - - Germline ? - - - - Rufino Mondejar
+/. _1_19_ c.-545_*1767del r.0? p.0? - pathogenic g.(?_91828283)_(91875228_?)del g.(?_92198969)_(92245914_?)del (?_-1)_(*1_?)del - KRIT1_000122 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. _1_19_ c.-545_*1767del r.0? p.0? - pathogenic g.(?_91828283)_(91875228_?)del g.(?_92198969)_(92245914_?)del (?_-1)_(*1_?)del - KRIT1_000122 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.-525G>T r.(?) p.(=) - likely benign g.91875208C>A - KRIT1(NM_194456.1):c.-590+12G>T - ANKIB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-421+190G>T r.(=) p.(=) - likely benign g.91874914C>A g.92245600C>A KRIT1(NM_194456.1):c.-589-5G>T - ANKIB1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.-2-61del r.(=) p.(=) - benign g.91871519del g.92242205del KRIT1(NM_004912.4):c.-2-61delT - KRIT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-2-7T>C r.(=) p.(=) - likely benign g.91871458A>G - KRIT1(NM_194454.3):c.-2-7T>C - ANKIB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.59C>T r.(?) p.(Thr20Ile) - VUS g.91871391G>A - KRIT1(NM_194454.1):c.59C>T (p.(Thr20Ile)) - ANKIB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.77G>A r.(?) p.(Arg26Gln) - likely benign g.91871373C>T g.92242059C>T KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q) - KRIT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.77G>A r.(?) p.(Arg26Gln) - benign g.91871373C>T g.92242059C>T KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q) - KRIT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.77G>A r.(?) p.(Arg26Gln) - likely benign g.91871373C>T - KRIT1(NM_001013406.1):c.77G>A (p.(Arg26Gln)), KRIT1(NM_004912.4):c.77G>A (p.R26Q), KRIT1(NM_194455.1):c.77G>A (p.R26Q) - KRIT1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.134A>G r.(?) p.(Gln45Arg) - VUS g.91870435T>C - KRIT1(NM_194454.1):c.134A>G (p.(Gln45Arg)) - KRIT1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 5 c.151_154del r.(?) p.(Lys51PhefsTer13) - pathogenic g.91870421_91870424del g.92241107_92241110del 151_154delAAAG - KRIT1_000138 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 5 c.151_154del r.(?) p.(Lys51PhefsTer13) - pathogenic g.91870421_91870424del g.92241107_92241110del 151_154delAAAG - KRIT1_000138 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 5 c.151_154del r.(?) p.(Lys51PhefsTer13) - pathogenic g.91870421_91870424del g.92241107_92241110del 151_154delAAAG - KRIT1_000138 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.196C>T r.(?) p.(Gln66Ter) - pathogenic g.91870373G>A g.92241059G>A KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*) - KRIT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.196C>T r.(?) p.(Gln66Ter) - pathogenic g.91870373G>A g.92241059G>A KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*) - KRIT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.196C>T r.(?) p.(Gln66Ter) - pathogenic g.91870373G>A - KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*) - KRIT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.196C>T r.(?) p.(Gln66Ter) - pathogenic g.91870373G>A - KRIT1(NM_004912.4):c.196C>T (p.Q66*), KRIT1(NM_194456.1):c.196C>T (p.Q66*) - KRIT1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 5 c.196_197del r.(?) p.(Gln66Argfs*54) - likely pathogenic g.91870375_91870376del g.92241061_92241062del 193_194delAC - KRIT1_000082 - - - - Germline yes - - - - Carmela Fusco
+?/. 5 c.196_197del r.(?) p.(Gln66Argfs*54) - likely pathogenic g.91870375_91870376del g.92241061_92241062del 196_197delCA - KRIT1_000082 - - - - Germline yes - - - - Carmela Fusco
+/. 5 c.196_197del r.(?) p.(Gln66ArgfsTer54) - pathogenic g.91870375_91870376del g.92241061_92241062del 193_194delAC - KRIT1_000082 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 5 c.196_197del r.(?) p.(Gln66ArgfsTer54) - pathogenic g.91870375_91870376del g.92241061_92241062del 196_197delCA - KRIT1_000082 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+?/. 5 c.206T>A r.(?) p.(Leu69*) - likely pathogenic g.91870363A>T g.92241049A>T - - KRIT1_000085 - - - - Germline ? - - - - Carmela Fusco
+/. 5 c.206T>A r.(?) p.(Leu69Ter) - pathogenic g.91870363A>T g.92241049A>T - - KRIT1_000085 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 5i c.262+132_262+133del r.262_263ins262+146_262+244 p.fs* - pathogenic (dominant) g.91870174_91870175del g.92240860_92240861del 262+132_262+133delAA - KRIT1_000121 - PubMed: Riant 2014 - - Germline yes - - - - Johan den Dunnen
?/. - c.263-18C>G r.(=) p.(=) - VUS g.91867091G>C g.92237777G>C KRIT1(NM_194456.1):c.263-18C>G - KRIT1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 5i c.263-18C>G r.[262_263ins263-17_263-1,=] p.[Gly88ValfsTer6,=] - likely pathogenic g.91867091G>C g.92237777G>C - - KRIT1_000117 effect on RNA inclusion of intron sequences - - - Germline/De novo (untested) - - - - - Tjakko van Ham
+/. - c.263-5_263-3dup r.spl? p.? ACMG pathogenic (dominant) g.91867076_91867078dup g.92237762_92237764dup NM_004912.4:c.263-2_263-1insTTA - KRIT1_000143 ACMG PVS1,PS4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 6 c.268C>T r.(?) p.(Arg90*) - pathogenic g.91867068G>A g.92237754G>A g.13347C>T - KRIT1_000001 - - - - Germline - - - - - Antonella Mendola
?/. - c.280A>G r.(?) p.(Met94Val) - VUS g.91867056T>C - KRIT1(NM_004912.4):c.280A>G (p.M94V) - KRIT1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.302G>T r.(?) p.(Gly101Val) - likely benign g.91867034C>A - KRIT1(NM_001013406.1):c.302G>T (p.(Gly101Val)) - KRIT1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 6i c.355+31A>G r.spl? p.(=) ACMG pathogenic g.91866950T>C g.92237636T>C - - KRIT1_000116 - - - - Germline/De novo (untested) - - - - - Stefania Battistini
-?/. - c.386G>A r.(?) p.(Cys129Tyr) - likely benign g.91865826C>T - KRIT1(NM_194454.1):c.386G>A (p.(Cys129Tyr)) - KRIT1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.418C>T r.(?) p.(Arg140Ter) - pathogenic g.91865794G>A g.92236480G>A KRIT1(NM_004912.4):c.418C>T (p.R140*) - KRIT1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.455T>G r.(?) p.(Leu152Arg) - VUS g.91865757A>C g.92236443A>C KRIT1(NM_004912.4):c.455T>G (p.L152R) - KRIT1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.486-2A>G r.spl? p.? - pathogenic g.91864962T>C - KRIT1(NM_194456.1):c.486-2A>G - KRIT1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.495T>G r.(?) p.(Asp165Glu) - VUS g.91864951A>C - KRIT1(NM_004912.4):c.495T>G (p.D165E) - KRIT1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.510A>G r.(?) p.(Gln170=) - likely benign g.91864936T>C g.92235622T>C KRIT1(NM_194455.1):c.510A>G (p.Q170=) - KRIT1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.535C>T r.(?) p.(Arg179Ter) - pathogenic g.91864911G>A g.92235597G>A KRIT1(NM_004912.4):c.535C>T (p.R179*) - KRIT1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 8 c.535C>T r.(?) p.(Arg179*) - pathogenic g.91864911G>A g.92235597G>A g.15504C>T - KRIT1_000002 - - - - Germline - - - - - Antonella Mendola
+/. - c.539del r.(?) p.(Pro180LeufsTer7) - pathogenic g.91864908del g.92235594del KRIT1(NM_004912.4):c.539delC (p.P180Lfs*7) - KRIT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.541_543del r.(?) p.(Ser181del) - VUS g.91864905_91864907del g.92235591_92235593del KRIT1(NM_004912.4):c.541_543delTCT (p.S181del) - KRIT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 8 c.646_647del r.(?) p.(Lys216Glufs*2) - likely pathogenic g.91864800_91864801del g.92235486_92235487del 646_647delAA - KRIT1_000084 - - - - Germline yes - - - - Carmela Fusco
+/. 8 c.646_647del r.(?) p.(Lys216GlufsTer2) - pathogenic g.91864800_91864801del g.92235486_92235487del 646_647delAA - KRIT1_000084 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
-?/. - c.675A>T r.(?) p.(=) - likely benign g.91864771T>A - KRIT1(NM_001013406.1):c.675A>T (p.(Ala225=)) - KRIT1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.699del r.(?) p.(Leu233PhefsTer12) - pathogenic g.91864747del g.92235433del KRIT1(NM_004912.4):c.699delG (p.L233Ffs*12) - KRIT1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 8 c.703G>A r.(?) p.(Gly235Arg) - likely pathogenic g.91864743C>T g.92235429C>T - - KRIT1_000090 - - - - Germline yes - - - - Carmela Fusco
+?/. 8 c.703G>A r.(?) p.(Gly235Arg) - likely pathogenic g.91864743C>T g.92235429C>T - - KRIT1_000090 - - - - Germline - - - - - Carmela Fusco
+?/. 8 c.703G>A r.(?) p.(Gly235Arg) - likely pathogenic g.91864743C>T g.92235429C>T - - KRIT1_000090 - - - - Germline yes - - - - Carmela Fusco
+?/. 8 c.703G>A r.599_729del p.Gln201Argfs*2 ACMG pathogenic (dominant) g.91864743C>T g.92235429C>T - - KRIT1_000090 - - - - Germline yes - - - - Stefania Battistini
+?/. 8 c.703G>A r.599_729del p.Gln201Argfs*2 ACMG pathogenic (dominant) g.91864743C>T g.92235429C>T - - KRIT1_000090 - - - - Germline yes - - - - Stefania Battistini
+/. 8 c.703G>A r.(?) p.(Gly235Arg) - pathogenic g.91864743C>T g.92235429C>T - - KRIT1_000090 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 8 c.703G>A r.(?) p.(Gly235Arg) - pathogenic g.91864743C>T g.92235429C>T - - KRIT1_000090 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.707C>G r.(?) p.(Ser236Ter) - pathogenic g.91864739G>C g.92235425G>C KRIT1(NM_194456.1):c.707C>G (p.S236*) - KRIT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.713_715del r.(?) p.(Leu238del) - VUS g.91864733_91864735del g.92235419_92235421del KRIT1(NM_004912.4):c.713_715delTTC (p.L238del) - KRIT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8i c.729+1G>A r.spl p.(Val244Glyfs*7) - pathogenic g.91864716C>T g.92235402C>T - - KRIT1_000137 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.729+2T>G r.spl p.? ACMG pathogenic g.91864715A>C g.92235401A>C - - KRIT1_000155 - - ClinVar-2842172 - Germline ? - - - - Marketa Wayhelova
?/. - c.729+4A>G r.spl? p.? - VUS g.91864713T>C g.92235399T>C KRIT1(NM_004912.4):c.729+4A>G, KRIT1(NM_194456.1):c.729+4A>G - KRIT1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.729+4A>G r.spl? p.? - pathogenic g.91864713T>C g.92235399T>C KRIT1(NM_004912.4):c.729+4A>G, KRIT1(NM_194456.1):c.729+4A>G - KRIT1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 9 c.746del r.(?) p.(Ile249Lysfs*7) - likely pathogenic g.91864221del g.92234907del 746delT - KRIT1_000089 - - - - Germline yes - - - - Carmela Fusco
+/. 9 c.746del r.(?) p.(Ile249LysfsTer7) - pathogenic g.91864221del g.92234907del 746delT - KRIT1_000089 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.747_750del r.(?) p.(Asn250HisfsTer5) - pathogenic g.91864220_91864223del g.92234906_92234909del KRIT1(NM_004912.4):c.747_750delAAAT (p.N250Hfs*5) - KRIT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 9 c.763del r.(?) p.(Leu255*) - likely pathogenic g.91864204del g.92234890del 763delC - KRIT1_000083 - - - - Germline yes - - - - Carmela Fusco
+/. 9 c.763del r.(?) p.(Leu255Ter) - pathogenic g.91864204del g.92234890del 763delC - KRIT1_000083 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+?/. 9 c.825del r.(?) p.(Met275Ilefs*13) - pathogenic g.91864142del g.92234828del 825delG - KRIT1_000088 - - - - Germline yes - - - - Carmela Fusco
+?/. 9 c.825del r.(?) p.(Met275Ilefs*13) - likely pathogenic g.91864142del g.92234828del 825delG - KRIT1_000088 - PubMed: Nardella 2018 - - Germline - - - - - Carmela Fusco
+/. 9i_10i c.(845+1_846-1)_(989+1_990-1)del r.? p.0? - pathogenic g.(91855997_91863762)_(91863907_91864121)del g.(92226683_92234448)_(92234593_92234807)del 846_989del, del ex11 - KRIT1_000135 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 9i_10i c.(845+1_846-1)_(989+1_990-1)del r.? p.0? - pathogenic g.(91855997_91863762)_(91863907_91864121)del g.(92226683_92234448)_(92234593_92234807)del 846_989del, del ex11 - KRIT1_000135 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 9i_10i c.(845+1_846-1)_(989+1_990-1)del r.? p.0? - pathogenic g.(91855997_91863762)_(91863907_91864121)del g.(92226683_92234448)_(92234593_92234807)del 846_989del, del ex11 - KRIT1_000135 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.859del r.(?) p.(Val287Ter) - pathogenic g.91863895del g.92234581del KRIT1(NM_194456.1):c.859delG (p.V287*) - KRIT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 10 c.880C>T r.(?) p.(Arg294Ter) - pathogenic g.91863872G>A g.92234558G>A - - KRIT1_000136 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.902C>G r.(?) p.(Ser301Ter) - pathogenic g.91863850G>C g.92234536G>C KRIT1(NM_004912.4):c.902C>G (p.S301*) - KRIT1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 10 c.937dup r.(?) p.(Ser313Phefs*7) - pathogenic g.91863818dup g.92234504dup g.16600dupT - KRIT1_000003 - - - - Germline - - - - - Antonella Mendola
?/. - c.947A>G r.(?) p.(Gln316Arg) - VUS g.91863805T>C g.92234491T>C KRIT1(NM_194456.1):c.947A>G (p.Q316R) - KRIT1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 10 c.966G>A r.(?) p.(Trp322*) - likely pathogenic g.91863786C>T g.92234472C>T - - KRIT1_000087 - - - - Germline yes - - - - Carmela Fusco
+?/. 10 c.966G>A r.(?) p.(Trp322*) - likely pathogenic g.91863786C>T g.92234472C>T - - KRIT1_000087 - PubMed: Nardella 2018 - - Germline - - - - - Carmela Fusco
+?/. 10 c.966G>A r.(?) p.(Trp322*) ACMG pathogenic g.91863786G>A g.92234472C>T - - KRIT1_000087 - - - - Germline - - - - - Stefania Battistini
+?/. 10 c.966G>A r.(966g>a) p.(Trp322*) ACMG pathogenic (dominant) g.91863786G>A g.92234472C>T - - KRIT1_000087 - - - - Germline - - - - - Stefania Battistini
+?/. 10 c.966G>A r.(966g>a) p.(Trp322*) ACMG pathogenic (dominant) g.91863786G>A g.92234472C>T - - KRIT1_000087 - - - - Germline - - - - - Stefania Battistini
+/. - c.967_968del r.(?) p.(Ala323ThrfsTer12) - pathogenic g.91863784_91863785del g.92234470_92234471del KRIT1(NM_194456.1):c.967_968delGC (p.A323Tfs*12) - KRIT1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 10 c.968dup r.(?) p.(Pro324Thrfs*12) - pathogenic g.91863784dup g.92234470dup g.16631dupC - KRIT1_000004 - - - - Germline - - - - - Antonella Mendola
+/. - c.968dup r.(?) p.(Pro324ThrfsTer12) - pathogenic g.91863784dup g.92234470dup KRIT1(NM_194456.1):c.968dupC (p.P324Tfs*12) - KRIT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.989+12A>G r.(=) p.(=) - likely benign g.91863751T>C - KRIT1(NM_194456.1):c.989+12A>G (p.(=)) - KRIT1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.990-14_990-11del r.(=) p.(=) - likely benign g.91856018_91856021del - KRIT1(NM_001013406.1):c.846-14_846-11del (p.(=)) - KRIT1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 10i_11i c.(989+1_990-1)_(1146+1_1147-1)del r.? p.? - likely pathogenic g.(91855142_91855839)_(91855997_91863762)del - 990_1146del - KRIT1_000086 - - - - Germline yes - - - - Carmela Fusco
+?/. 10_11i c.(989+1_990-1)_(1146+1_1147-1)del r.(990_1146del) p.(Trp330Cysfs*3) - likely pathogenic (dominant) g.(91855142_91855839)_(91855997_91863762)del g.(92225828_92226525)_(92226683_92234448)del 990_1146del, del ex12 - KRIT1_000099 - PubMed: Nardella 2018 - - Germline - - - - - Carmela Fusco
+/. 10i_11i c.(989+1_990-1)_(1146+1_1147-1)del r.? p.(Trp330Cysfs*3) - pathogenic g.(91855142_91855839)_(91855997_91863762)del g.(92225828_92226525)_(92226683_92234448)del 990_1146del, del ex12 - KRIT1_000099 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. 10i_11i c.(989+1_990-1)_(1146+1_1147-1)del r.? p.(Trp330Cysfs*3) - pathogenic g.(91855142_91855839)_(91855997_91863762)del g.(92225828_92226525)_(92226683_92234448)del 990_1146del, del ex12 - KRIT1_000099 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.990G>A r.(?) p.(Trp330Ter) - pathogenic g.91855996C>T g.92226682C>T KRIT1(NM_194456.1):c.990G>A (p.W330*) - KRIT1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 11 c.1002del r.(?) p.(Glu335Argfs*7) - pathogenic g.91855985del g.92226671del 1002delT - KRIT1_000078 - - - - Germline - - - - - Kang-Yang Jih
+?/. 11 c.1048C>T r.(?) p.(Leu350Phe) - pathogenic g.91855938G>A g.92226624G>A - - KRIT1_000095 - - - - Germline yes - - - - Carmela Fusco
+?/. 9i_10i c.1048C>T r.(?) p.(Leu350Phe) - likely pathogenic g.91855938G>A g.92226624G>A - - KRIT1_000095 - PubMed: Nardella 2018 - - Germline - - - - - Johan den Dunnen
+/. - c.1060C>T r.(?) p.(Gln354Ter) - pathogenic g.91855926G>A g.92226612G>A KRIT1(NM_194455.1):c.1060C>T (p.Q354*) - KRIT1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1063C>T r.(?) p.(Leu355Phe) - VUS g.91855923G>A - KRIT1(NM_194456.1):c.1063C>T (p.L355F) - KRIT1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1070C>G r.(?) p.(Ser357Cys) - likely benign g.91855916G>C - KRIT1(NM_194454.3):c.1070C>G (p.(Ser357Cys)) - KRIT1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1075_1076del r.(?) p.(Leu359SerfsTer10) - pathogenic g.91855912_91855913del g.92226598_92226599del KRIT1(NM_004912.4):c.1075_1076delCT (p.L359Sfs*10) - KRIT1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1090G>T r.(?) p.(Gly364Ter) - pathogenic g.91855896C>A g.92226582C>A KRIT1(NM_004912.4):c.1090G>T (p.G364*) - KRIT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1095A>G r.(?) p.(Gly365=) - benign g.91855891T>C g.92226577T>C KRIT1(NM_001013406.1):c.951A>G (p.(Gly317=)), KRIT1(NM_004912.4):c.1095A>G (p.G365=), KRIT1(NM_194455.1):c.1095A>G (p.G365=) - KRIT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1095A>G r.(?) p.(Gly365=) - benign g.91855891T>C g.92226577T>C KRIT1(NM_001013406.1):c.951A>G (p.(Gly317=)), KRIT1(NM_004912.4):c.1095A>G (p.G365=), KRIT1(NM_194455.1):c.1095A>G (p.G365=) - KRIT1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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