All variants in the KIZ gene

Information The variants shown are described using the NM_018474.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-41dup r.(?) p.(=) - benign g.21106716dup - KIZ(NM_018474.6):c.-41dupG - KIZ_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.48C>T r.(?) p.(Tyr16=) - benign g.21106804C>T g.21126163C>T KIZ(NM_018474.6):c.48C>T (p.Y16=) - KIZ_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 c.52G>T r.(?) p.(Glu18*) - likely pathogenic g.21106808G>T g.21126167G>T - - KIZ_000001 - PubMed: El Shamieh 2014 - - Germline yes - - - - Marianne Vos (LOVD-team)
?/. - c.118A>G r.(?) p.(Lys40Glu) - VUS g.21112766A>G - KIZ(NM_018474.5):c.118A>G (p.K40E) - KIZ_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.119_122del r.(?) p.(Lys40Ilefs*14) - likely pathogenic g.21112767_21112770del g.21132126_21132129del 119_122delAACT - KIZ_000002 - PubMed: El Shamieh 2014 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. - c.119_122del r.(?) p.(Lys40Ilefs*14) - likely pathogenic g.21112767_21112770del g.21132126_21132129del KIZ c.119_122delAACT, p.K40IfsX14 - KIZ_000002 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - LOVD
+/. - c.119_122delAACT r.(?) p.(Lys40Ilefs*14) - pathogenic g.21112767_21112770del g.21132126_21132129del KIZ c.119_122delAACT, p.Lys40llefsTer14 - KIZ_000002 homozygous PubMed: Lin 2020 - - Germline yes - - - - LOVD
+?/. - c.141_144del r.(?) p.(Asp48Hisfs*6) ACMG pathogenic g.21112789_21112792del g.21132148_21132151del Pro48Leufs*27 - KIZ_000028 - - - - Germline/De novo (untested) - - - - - Jinu Han
-/. - c.152+10G>A r.(=) p.(=) - benign g.21112810G>A g.21132169G>A KIZ(NM_018474.6):c.152+10G>A - KIZ_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.152+18G>A r.(=) p.(=) - benign g.21112818G>A g.21132177G>A KIZ(NM_018474.6):c.152+18G>A - KIZ_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 3 c.226C>T r.(?) p.(Arg76*) - likely pathogenic g.21117104C>T g.21136463C>T - - KIZ_000003 - PubMed: El Shamieh 2014 - - Germline yes - - - - Marianne Vos (LOVD-team)
+?/. 3 c.226C>T r.(?) p.(Arg76*) - likely pathogenic g.21117104C>T g.21136463C>T - - KIZ_000003 - PubMed: El Shamieh 2014 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/. 3 c.226C>T r.(?) p.(Arg76*) - pathogenic g.21117104C>T g.21136463C>T - - KIZ_000003 - Sharon, submitted - - Germline - - - - - Dror Sharon
+/. - c.226C>T r.(?) p.(Arg76*) ACMG pathogenic g.21117104C>T - - - KIZ_000003 - PubMed: Sharon 2019 - - Germline - 6/2420 IRD families - - - Global Variome, with Curator vacancy
+/. - c.226C>T r.(?) p.(Arg76*) - VUS g.21117104C>T g.21136463C>T - - KIZ_000003 - PubMed: Gustafson 2017 - - Germline - - - - - Johan den Dunnen
+?/. - c.226C>T r.(?) p.(Arg76*) - likely pathogenic g.21117104C>T g.21136463C>T KIZ c.226C>T, p.R76X - KIZ_000003 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - LOVD
+?/. - c.226C>T r.(?) p.(Arg76*) - likely pathogenic g.21117104C>T g.21136463C>T KIZ c.226C>T, p.R76X - KIZ_000003 homozygous PubMed: Jauregui 2020 - - Unknown ? - - - - LOVD
+/. - c.226C>T r.(?) p.(Arg76*) - pathogenic g.21117104C>T - KIZ(NM_018474.5):c.226C>T (p.R76*) - KIZ_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.226C>T r.(?) (p.Arg76*) - likely pathogenic g.21117104C>T g.21136463C>T KIZ c.226 C > T, (p.Arg76*) - KIZ_000003 homozygous PubMed: Zhao 2019 - - Germline yes - - - - LOVD
+/. - c.226C>T r.(?) p.(Arg76*) - pathogenic g.21117104C>T g.21136463C>T KIZ c.226C>T, p.Arg76Ter - KIZ_000003 homozygous PubMed: Lin 2020 - - Germline yes - - - - LOVD
+/. - c.226C>T r.(?) p.(Arg76*) - pathogenic g.21117104C>T g.21136463C>T KIZ c.226C>T, p.Arg76Ter - KIZ_000003 homozygous PubMed: Lin 2020 - - Germline yes - - - - LOVD
+/. - c.226C>T r.(?) p.(Arg76*) - pathogenic g.21117104C>T g.21136463C>T KIZ c.226C>T, p.Arg76Ter - KIZ_000003 homozygous PubMed: Lin 2020 - - Germline yes - - - - LOVD
+/. 3 c.226C>T r.(?) p.(Arg76Ter) - pathogenic g.21117104C>T - c.226C>T - KIZ_000003 - PubMed: Panneman 2023 - - Unknown - - - - - Daan Panneman
+/. - c.226C>T r.(?) p.(Arg76*) ACMG pathogenic g.21117104C>T - - - KIZ_000003 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-1412948 rs202210819 Germline yes - - - - Rocio Villafuerte-de la Cruz
+?/. - c.251_258del r.(?) p.(Phe84Cysfs*23) - likely pathogenic g.21117129_21117136del g.21136488_21136495del KIZ, variant 1: c.251_258del/p.F84Cfs*23, variant 2: c.251_258del/p.F84Cfs*23 - KIZ_000031 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - LOVD
?/. - c.350G>A r.(?) p.(Cys117Tyr) - VUS g.21126240G>A - KIZ(NM_018474.5):c.350G>A (p.C117Y) - KIZ_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.357A>G r.(?) p.(Lys119=) - likely benign g.21126247A>G g.21145606A>G KIZ(NM_018474.6):c.357A>G (p.K119=) - KIZ_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.405+1dup r.spl? p.? - pathogenic g.21126296dup g.21145655dup KIZ(NM_001352436.1):c.64dupG (p.V22Gfs*8) - KIZ_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.417C>T r.(?) p.(His139=) - likely benign g.21142523C>T g.21161882C>T KIZ(NM_018474.5):c.417C>T (p.H139=) - KIZ_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.505A>G r.(?) p.(Ser169Gly) - VUS g.21142611A>G g.21161970A>G KIZ(NM_018474.5):c.505A>G (p.S169G) - KIZ_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.583C>T r.(?) p.(Arg195*) - likely pathogenic g.21142689C>T g.21162048C>T KIZ c.583C>T p.(Arg195*) - KIZ_000032 heterozygous PubMed: Méjécase 2020 - - Unknown ? - - - - LOVD
-/. - c.892G>A r.(?) p.(Gly298Arg) - benign g.21142998G>A g.21162357G>A KIZ(NM_018474.6):c.892G>A (p.G298R) - KIZ_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.961T>C r.(?) p.(Ser321Pro) - VUS g.21143067T>C g.21162426T>C KIZ(NM_001352436.1):c.619T>C (p.S207P) - KIZ_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1043-7C>G r.(=) p.(=) - VUS g.21143484C>G g.21162843C>G KIZ(NM_018474.6):c.1043-7C>G - KIZ_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1331C>G r.(?) p.(Ser444Cys) - VUS g.21143779C>G g.21163138C>G KIZ(NM_018474.5):c.1331C>G (p.S444C) - KIZ_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1352+23del r.(=) p.(=) - benign g.21143823del g.21163182del KIZ(NM_018474.6):c.1352+23delT - KIZ_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1383G>A r.(?) p.(Pro461=) - benign g.21186160G>A g.21205521G>A KIZ(NM_018474.6):c.1383G>A (p.P461=) - KIZ_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1387_1388insA r.(?) p.(Ala463AspfsTer14) - likely benign g.21186163_21186164insA g.21205525_21205526insA PLK1S1(NM_001163022.1):c.1077_1078insA (p.(His360ThrfsTer212)) - KIZ_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1488C>T r.(?) p.(Gly496=) - benign g.21195214C>T - KIZ(NM_018474.6):c.1488C>T (p.G496=) - KIZ_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1612+2T>G r.spl p.? ACMG likely pathogenic g.21196223T>G - - - KIZ_000038 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-7879 rs750369135 Germline yes - - - - Rocio Villafuerte-de la Cruz
+/. - c.1612+2T>G r.spl p.? ACMG likely pathogenic g.21196223T>G - - - KIZ_000038 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-2355 rs750369135 Germline yes - - - - Rocio Villafuerte-de la Cruz
?/. - c.1660G>T r.(?) p.(Ala554Ser) - VUS g.21196268G>T g.21215630G>T KIZ(NM_018474.6):c.1660G>T (p.A554S), PLK1S1(NM_001163022.1):c.1350G>T (p.(Ala451Ser)) - KIZ_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1660G>T r.(?) p.(Ala554Ser) - VUS g.21196268G>T g.21215630G>T KIZ(NM_018474.6):c.1660G>T (p.A554S), PLK1S1(NM_001163022.1):c.1350G>T (p.(Ala451Ser)) - KIZ_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1745G>A r.(?) p.(Arg582Lys) - likely benign g.21209715G>A g.21229077G>A KIZ(NM_018474.5):c.1745G>A (p.R582K), KIZ(NM_018474.6):c.1745G>A (p.R582K) - KIZ_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1745G>A r.(?) p.(Arg582Lys) - VUS g.21209715G>A g.21229077G>A KIZ(NM_018474.5):c.1745G>A (p.R582K), KIZ(NM_018474.6):c.1745G>A (p.R582K) - KIZ_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1760A>T r.(?) p.(Asp587Val) ACMG VUS g.21209730A>T g.21229092A>T KIZ:NM_001163022 c.1450A>T, p.D484V - KIZ_000030 error in annotation: c.1451A>T and not c.1450A>T causes p.D484V; different transcript NM_001163022.2(KIZ):c.1451A>T, p.(Asp484Val), heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
-?/. - c.1783+18G>A r.(=) p.(=) - likely benign g.21209771G>A - KIZ(NM_001352436.2):c.1440+18G>A - KIZ_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1784-11G>A r.(=) p.(=) - benign g.21213361G>A - KIZ(NM_018474.6):c.1784-11G>A - KIZ_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1809C>T r.(?) p.(Phe603=) - benign g.21213397C>T g.21232759C>T KIZ(NM_018474.6):c.1809C>T (p.F603=) - KIZ_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1870C>T r.(?) p.(Pro624Ser) - benign g.21213458C>T g.21232820C>T KIZ(NM_018474.6):c.1870C>T (p.P624S) - KIZ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1884T>C r.(?) p.(His628=) - benign g.21224886T>C g.21244248T>C KIZ(NM_001163022.3):c.1574T>C (p.L525P) - KIZ_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1924+3G>A r.spl? p.? - benign g.21224929G>A g.21244291G>A KIZ(NM_018474.6):c.1924+3G>A - KIZ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1931G>C r.(?) p.(Trp644Ser) - VUS g.21227123G>C - KIZ(NM_001352436.1):c.1588G>C (p.G530R) - KIZ_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1966G>A r.(?) p.(Ala656Thr) - VUS g.21227158G>A g.21246520G>A KIZ(NM_018474.5):c.1966G>A (p.A656T) - KIZ_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1975C>T r.(?) p.(Arg659Cys) - VUS g.21227167C>T g.21246529C>T KIZ(NM_018474.5):c.1975C>T (p.R659C), KIZ(NM_018474.6):c.1975C>T (p.R659C) - KIZ_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1975C>T r.(?) p.(Arg659Cys) - likely benign g.21227167C>T g.21246529C>T KIZ(NM_018474.5):c.1975C>T (p.R659C), KIZ(NM_018474.6):c.1975C>T (p.R659C) - KIZ_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1998T>C r.(?) p.(Asp666=) - likely benign g.21227190T>C g.21246552T>C KIZ(NM_001163022.3):c.1688T>C (p.V563A) - KIZ_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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