All variants in the STRC gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_153700.2 transcript reference sequence.

159 entries on 2 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     
-?/. - c.-21781T>C r.(?) p.(=) - likely benign g.43932701A>G - CATSPER2(NM_172095.4):c.389-7T>C - CKMT1A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. _1_29_ c.-78_*109{0} r.0? p.0? - pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+?/. _1_29_ c.-78_*109{0} r.0? p.0? - likely pathogenic g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del del gene - STRC_000015 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del - - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43910998_?)del g.(?_43599563)_(43618800_?)del CNV del - STRC_000015 - PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Johan den Dunnen
+/. _1_29_ c.-78_*109{0} r.0 p.0 - pathogenic (recessive) g.(?_43891761)_(43941039_?)del g.(?_43599563)_(43648841_?)del del STRC-CATSPER2 - STRC_000060 homozygous deletion PubMed: Ehrenberg 2019 - - Germline yes - - - - LOVD
+/. _1_29_ c.0 r.0 p.0 - pathogenic (recessive) g.(438868571_43888004)_(43984930_43992627)del - - - STRC_000049 compound heterozygous 97kb deletion spanning the STRC, CKMT1B and CATSPER2 genes - - - Germline yes - - - - Joakim Klar
+/. _1_29_ c.(?_1)_(5328_?)del r.0? p.0? - pathogenic g.(?_43891870)_(43910920_?)del - 1_5515del - STRC_000008 ~0.1Mb deletion PMID:22147502 - - Germline yes - - - - Zippi Brownstein
+?/. _1_29_ c.(?_1)_(5328_?)del r.0? p.0? - likely pathogenic g.(?_43891870)_(43910920_?)del - 1_5328del - STRC_000008 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+?/. _1_29_ c.(?_1)_(5328_?)del r.0? p.0? - likely pathogenic g.(?_43891870)_(43910920_?)del - 1_5328del - STRC_000008 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+?/. _1_29_ c.(?_1)_(5328_?)del r.0? p.0? - likely pathogenic g.(?_43891870)_(43910920_?)del - - - STRC_000008 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - Mieke Wesdorp
+/. _1_29_ c.(?_1)_(*1_?)del r.0 p.0 - pathogenic g.(43810000_43891869)_(43910920_43991000)del - whole gene deletion - STRC_000002 deletion of ~0.1Mb PubMed: Francey 2012, Journal: Francey 2012 - - Germline yes - - - - Zippi Brownstein
+/. _1_29_ c.(?_1)_(*1_?)del r.0 p.0 - pathogenic g.(43810000_43891869)_(43910920_43991000)del - whole gene deletion - STRC_000002 deletion of ~0.1Mb - - - Germline yes - - - - Zippi Brownstein
+/. _1_29_ c.(?_1)_(*1_?)del r.0? p.0? - pathogenic g.43891869_43910920del - - - STRC_000002 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Johan den Dunnen
-/. _1_29_ c.(?_1)_(*1_?)dup r.(=) p.(=) - benign g.43891869_43910920dup - STRC_000000 - STRC_000003 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - Johan den Dunnen
-?/. - c.99C>T r.(?) p.(Asp33=) - likely benign g.43910520G>A g.43618322G>A STRC(NM_153700.2):c.99C>T (p.D33=) - STRC_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.102T>C r.(?) p.(Pro34=) - likely benign g.43910517A>G - - - STRC_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.179T>C r.(?) p.(Phe60Ser) - benign g.43910440A>G g.43618242A>G STRC(NM_153700.2):c.179T>C (p.F60S) - STRC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.179T>C r.(?) p.(Phe60Ser) - benign g.43910440A>G g.43618242A>G STRC(NM_153700.2):c.179T>C (p.F60S) - STRC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.319_321dup r.(?) p.(Glu107dup) - VUS g.43910299_43910301dup g.43618101_43618103dup STRC(NM_153700.2):c.319_321dupGAG (p.E107dup) - STRC_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.333G>T r.(?) p.(Gly111=) - benign g.43910286C>A g.43618088C>A STRC(NM_153700.2):c.333G>T (p.G111=) - STRC_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.333G>T r.(?) p.(Gly111=) - benign g.43910286C>A - STRC(NM_153700.2):c.333G>T (p.G111=) - STRC_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.353C>G r.(?) p.(Ala118Gly) - likely benign g.43910266G>C - STRC(NM_153700.2):c.353C>G (p.A118G) - STRC_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.409C>G r.(?) p.(Leu137Val) - likely benign g.43910210G>C g.43618012G>C STRC(NM_153700.2):c.409C>G (p.L137V) - STRC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.418C>A r.(?) p.(Leu140Ile) - VUS g.43910201G>T g.43618003G>T STRC(NM_153700.2):c.418C>A (p.L140I) - STRC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.498G>A r.(?) p.(Pro166=) - benign g.43910121C>T g.43617923C>T STRC(NM_153700.2):c.498G>A (p.P166=) - STRC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 2 c.583C>T r.(?) p.(Gln195*) ACMG pathogenic (recessive) g.43910036G>A g.43617838G>A - - STRC_000051 ACMG PVS1, PM2, PM3, PP1 PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Doo-Yi Oh
+/. - c.583C>T r.(?) p.(Gln195*) - likely pathogenic g.43910036G>A g.43617838G>A - - STRC_000051 - - - - Germline ? - - - - Seungmin Lee
?/. - c.613G>T r.(?) p.(Gly205Cys) - VUS g.43910006C>A - STRC(NM_153700.2):c.613G>T (p.G205C) - STRC_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.671C>T r.(?) p.(Thr224Ile) - likely benign g.43909948G>A g.43617750G>A STRC(NM_153700.2):c.671C>T (p.T224I) - STRC_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.678A>T r.(?) p.(Thr226=) - likely benign g.43909941T>A g.43617743T>A STRC(NM_153700.2):c.678A>T (p.T226=) - STRC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.739del r.(?) p.(Leu247Serfs*76) - pathogenic g.43909885del - - - STRC_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.919T>C r.(?) p.(Phe307Leu) - VUS g.43908845A>G g.43616647A>G - - STRC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.958C>T r.(?) p.(His320Tyr) ACMG likely pathogenic g.43908806G>A g.43616608G>A - - STRC_000055 ACMG PS2, PM2 PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Doo-Yi Oh
-?/. - c.1002G>A r.(?) p.(Pro334=) - likely benign g.43908762C>T - - - STRC_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1144C>T r.(?) p.(Gln382*) - pathogenic g.43908620G>A - - - STRC_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1355del r.(?) p.(Pro452Leufs*84) - pathogenic g.43908413del - - - STRC_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1365C>G r.(?) p.(Cys455Trp) - likely pathogenic g.43908399G>C g.43616201G>C - - STRC_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1453T>G r.(?) p.(Cys485Gly) - VUS g.43908311A>C - - - STRC_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1466G>C r.(?) p.(Ser489Thr) - VUS g.43908298C>G g.43616100C>G - - STRC_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1469T>C r.(?) p.(Leu490Pro) - likely pathogenic g.43908295A>G g.43616097A>G - - STRC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1504C>T r.(?) p.(Gln502Ter) - pathogenic g.43908260G>A g.43616062G>A - - STRC_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1580G>C r.(?) p.(Cys527Ser) - VUS g.43908184C>G g.43615986C>G - - STRC_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1631A>G r.(?) p.(Tyr544Cys) - VUS g.43908133T>C g.43615935T>C - - STRC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2016A>G r.(?) p.(Leu672=) - likely benign g.43907748T>C g.43615550T>C - - STRC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2171_2174del r.(?) p.(Val724Glyfs*6) - pathogenic g.43906636_43906639del - - - STRC_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2188C>T r.(?) p.(Leu730=) - likely benign g.43906620G>A g.43614422G>A - - STRC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2314-1G>C r.spl? p.? - pathogenic g.43906252C>G - STRC(NM_153700.2):c.2314-1G>C - STRC_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2314-1G>C r.spl? p.? - VUS g.43906252C>G - STRC(NM_153700.2):c.2314-1G>C - STRC_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.2389C>T r.(?) p.(Gln797Ter) - pathogenic g.43906176G>A g.43613978G>A - - STRC_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2411C>G r.(?) p.(Pro804Arg) - VUS g.43906154G>C g.43613956G>C - - STRC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2614C>T r.(?) p.(Pro872Ser) ACMG VUS g.43905296G>A g.43613098G>A - - STRC_000056 ACMG PM2_P, PM3 PubMed: Kim 2020, Journal: Kim 2020 - - Germline - - - - - Doo-Yi Oh
?/. - c.2640G>T r.(?) p.(Glu880Asp) - VUS g.43905270C>A - - - STRC_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2734C>T r.(?) p.(Arg912Cys) - VUS g.43905038G>A g.43612840G>A - - STRC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2779C>T r.(?) p.(Arg927Cys) - VUS g.43904993G>A - - - STRC_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2784G>T r.(?) p.(Arg928Ser) - VUS g.43904707C>A - - - STRC_000062 - - - - CLASSIFICATION record - - - - - MobiDetails
+?/. - c.2914C>T r.(?) p.(Arg972Trp) - likely pathogenic g.43904577G>A g.43612379G>A - - STRC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3099+2T>G r.spl? p.? - pathogenic g.43904038A>C g.43611840A>C - - STRC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 11i c.3100-18G>A r.(3100_3138del) p.(Ala1034_Asp1046del) - likely pathogenic g.43903753C>T g.43611555C>T - - STRC_000009 effect on splicing predicted from minigene splicing assay PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. 11i c.3100-2A>T r.(3100_3138del) p.(Ala1034_Asp1046del) - pathogenic g.43903737T>A g.43611539T>A - - STRC_000010 effect on splicing predicted from minigene splicing assay PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. - c.3217C>T r.(?) p.(Arg1073Ter) - pathogenic g.43903435G>A g.43611237G>A - - STRC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3218G>A r.(?) p.(Arg1073Gln) - VUS g.43903434C>T - STRC(NM_153700.2):c.3218G>A (p.R1073Q) - STRC_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3218G>A r.(?) p.(Arg1073Gln) - VUS g.43903434C>T - STRC(NM_153700.2):c.3218G>A (p.R1073Q) - STRC_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3307-5dup r.spl? p.? - likely benign g.43903187dup g.43610989dup STRC(NM_153700.2):c.3307-5dupT - STRC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3360T>C r.(?) p.(Cys1120=) - benign g.43903129A>G g.43610931A>G STRC(NM_153700.2):c.3360T>C (p.C1120=) - STRC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3360T>C r.(?) p.(Cys1120=) - likely benign g.43903129A>G g.43610931A>G STRC(NM_153700.2):c.3360T>C (p.C1120=) - STRC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3460C>T r.(?) p.(Arg1154*) - pathogenic g.43902548G>A - - - STRC_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3540T>G r.(?) p.(Leu1180=) - likely benign g.43901491A>C g.43609293A>C STRC(NM_153700.2):c.3540T>G (p.L1180=) - STRC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 16i_29_ c.(3557+1_3558-1)_(*109_?)del r.? p.? - pathogenic g.(?_43891761)_(43900402_43901473)del g.(?_43599563)_(443608204_43609275)del - - STRC_000016 - PubMed: Baux 2017, Journal: Baux 2017 - - Germline/De novo (untested) - - - - - David Baux
+/. - c.3601C>T r.(?) p.(Gln1201Ter) - pathogenic g.43900358G>A g.43608160G>A STRC(NM_153700.2):c.3601C>T (p.Q1201*) - STRC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3601C>T r.(?) p.(Gln1201Ter) - pathogenic g.43900358G>A - STRC(NM_153700.2):c.3601C>T (p.Q1201*) - STRC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.3681+9G>T r.(=) p.(=) - likely benign g.43900269C>A - STRC(NM_153700.2):c.3681+9G>T - STRC_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3702G>A r.(?) p.(Glu1234=) - benign g.43900153C>T g.43607955C>T - - STRC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.3710G>A r.(?) p.(Arg1237Gln) - VUS g.43900145C>T - STRC(NM_153700.2):c.3710G>A (p.R1237Q) - STRC_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3794C>T r.(?) p.(Pro1265Leu) - likely pathogenic g.43900061G>A g.43607863G>A - - STRC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.3794+1G>A r.spl? p.? - pathogenic g.43900060C>T g.43607862C>T STRC(NM_153700.2):c.3794+1G>A - STRC_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.3794+1G>A r.spl? p.? - pathogenic g.43900060C>T - STRC(NM_153700.2):c.3794+1G>A - STRC_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.3893A>G r.(?) p.(His1298Arg) - benign g.43897499T>C g.43605301T>C STRC(NM_153700.2):c.3893A>G (p.H1298R) - STRC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3893A>G r.(?) p.(His1298Arg) - benign g.43897499T>C g.43605301T>C STRC(NM_153700.2):c.3893A>G (p.H1298R) - STRC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3894C>T r.(?) p.(His1298=) - likely benign g.43897498G>A - STRC(NM_153700.2):c.3894C>T (p.H1298=) - STRC_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 20 c.4012C>T r.(?) p.(Arg1338*) - likely pathogenic (recessive) g.43896963G>A g.43604765G>A - - STRC_000061 - Journal: Kannan-Sundhari 2020 - - Germline - - - - - Johan den Dunnen
?/. - c.4020C>G r.(?) p.(Ile1340Met) - VUS g.43896955G>C - STRC(NM_153700.2):c.4020C>G (p.I1340M) - STRC_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 20 c.4027C>T r.(4027c>u) p.(Gln1343*) - pathogenic g.43896948G>A g.43604750G>A g.113511C>T - STRC_000048 compound heterozygous with large deletion - ClinVar-RCV000516500.1 rs144948296 Germline yes - - - - Joakim Klar
+/. 20 c.4057C>T r.(?) p.(Gln1353*) - pathogenic g.43896880C>T - - - STRC_000007 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. - - - Germline yes - - - - Zippi Brownstein
+/. - c.4057C>T r.(?) p.(Gln1353*) - pathogenic g.43896918G>A g.43604720G>A - - STRC_000007 - - - - Germline ? - - - - Seungmin Lee
+/. - c.4057C>T r.(?) p.(Gln1353*) ACMG pathogenic (recessive) g.43896918C>T g.43604720G>A - - STRC_000007 ACMG PVS1, PM2_P, PM3_S PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - So Young Kim
+?/. - c.4057C>T r.(?) p.(Gln1353Ter) - likely pathogenic (recessive) g.43896918G>A g.43604720G>A c.C4057T - STRC_000007 rs2614824 PubMed: Choi 2013 - - Germline - - - - - Johan den Dunnen
-/. - c.4127+8C>T r.(=) p.(=) - benign g.43896840G>A g.43604642G>A STRC(NM_153700.2):c.4127+8C>T - STRC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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