Full data view for gene SEC24D


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_014822.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.-167C>T r.-167C>T p.Met1ext-56 Both (homozygous) - likely pathogenic (recessive) g.119757221G>A g.118836066G>A - - SEC24D_000064 normal mRNA levels, reduced protein expression PubMed: Essawi 2026 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - OI FamPatIV1/3/8 PubMed: Essawi 2026 4-generation family, 3 affected (brother/sister/brother), unaffected heterozygous carrier parents/relatives F;M yes Palestine - - - - - 3 Johan den Dunnen
+/. 2 c.11A>C r.(?) p.(Gln4Pro) Both (homozygous) - pathogenic g.119754841T>G g.118833686T>G 11T>C (Gln4Pro) - SEC24D_000011 influence of variant on phenotype unknown PubMed: Micheal 2016, Journal: Micheal 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - BCS2 FamPatIV5 PubMed: Micheal 2016, Journal: Micheal 2016 4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Pakistan - - - - - 4 Shazia Micheal
-?/. - c.86A>G r.(?) p.(Tyr29Cys) Unknown - likely benign g.119754766T>C - SEC24D(NM_001318066.1):c.86A>G (p.(Tyr29Cys)) - SEC24D_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.113dup r.(113dup) p.(Thr39AsnfsTer16) Maternal (confirmed) - pathogenic (recessive) g.119754740dup g.118833585dup 113dupC - SEC24D_000065 - PubMed: Moosa 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI patient PubMed: Moosa 2016, 2-generation family, 1 affected, unaffected heterozygous carrier parents/ - - Germany China - - - - 1 Johan den Dunnen
+/. 1 c.113dup r.(?) p.(Thr39AsnfsTer16) Paternal (confirmed) - pathogenic (recessive) g.119754740dup g.118833585dup 113dupC - SEC24D_000065 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-514 PubMed: Li 2020 patient, no family history - no China - - - - - 1 Xiuli Zhao
-?/. - c.125T>C r.(?) p.(Met42Thr) Unknown - likely benign g.119745898A>G g.118824743A>G SEC24D(NM_014822.2):c.125T>C (p.(Met42Thr)) - SEC24D_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - likely benign g.119745884G>A g.118824729G>A SEC24D(NM_001318066.2):c.139C>T (p.P47S), SEC24D(NM_014822.2):c.139C>T (p.(Pro47Ser)) - SEC24D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.139C>T r.(?) p.(Pro47Ser) Unknown - benign g.119745884G>A - SEC24D(NM_001318066.2):c.139C>T (p.P47S), SEC24D(NM_014822.2):c.139C>T (p.(Pro47Ser)) - SEC24D_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>A r.(?) p.(Pro61Thr) Unknown - likely benign g.119745842G>T g.118824687G>T SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T) - SEC24D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>A r.(?) p.(Pro61Thr) Unknown - likely benign g.119745842G>T - SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T) - SEC24D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181C>A r.(?) p.(Pro61Thr) Unknown - likely benign g.119745842G>T - SEC24D(NM_001318066.1):c.181C>A (p.P61T, p.(Pro61Thr)), SEC24D(NM_001318066.2):c.181C>A (p.P61T) - SEC24D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.248+7T>C r.(=) p.(=) Unknown - likely benign g.119745768A>G g.118824613A>G SEC24D(NM_001318066.1):c.248+7T>C (p.(=)), SEC24D(NM_001318066.2):c.248+7T>C - SEC24D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.248+7T>C r.(=) p.(=) Unknown - benign g.119745768A>G - SEC24D(NM_001318066.1):c.248+7T>C (p.(=)), SEC24D(NM_001318066.2):c.248+7T>C - SEC24D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.249-8T>C r.(=) p.(=) Unknown - likely benign g.119738575A>G - SEC24D(NM_014822.2):c.249-8T>C (p.(=)) - SEC24D_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.305C>G r.(?) p.(Pro102Arg) Unknown - likely benign g.119738511G>C g.118817356G>C SEC24D(NM_014822.3):c.305C>G (p.P102R) - SEC24D_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.398-69T>A r.(=) p.(=) Unknown - likely benign g.119736950A>T - SEC24D(NM_001318066.2):c.398-69T>A - SEC24D_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.429C>T r.(?) p.(=) Unknown - benign g.119736850G>A - SEC24D(NM_001318066.2):c.429C>T (p.P143=) - SEC24D_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483T>G r.(?) p.(Pro161=) Unknown - benign g.119736796A>C g.118815641A>C SEC24D(NM_014822.4):c.483T>G (p.P161=) - SEC24D_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.493C>G r.(?) p.(Gln165Glu) Unknown - VUS g.119736786G>C - SEC24D(NM_014822.4):c.493C>G (p.(Gln165Glu)) - SEC24D_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578C>T r.(?) p.(Pro193Leu) Unknown - likely benign g.119736701G>A g.118815546G>A SEC24D(NM_001318066.1):c.578C>T (p.(Pro193Leu)), SEC24D(NM_001318066.2):c.578C>T (p.P193L) - SEC24D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.578C>T r.(?) p.(Pro193Leu) Unknown - benign g.119736701G>A - SEC24D(NM_001318066.1):c.578C>T (p.(Pro193Leu)), SEC24D(NM_001318066.2):c.578C>T (p.P193L) - SEC24D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.613C>T r.(?) p.(Gln205*) Paternal (confirmed) - pathogenic g.119736666G>A - - - SEC24D_000001 - PubMed: Garbes 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES CLCRP - PubMed: Garbes 2015 - - - - - - - - - 1 Raymond Dalgleish
-?/. - c.653C>G r.(?) p.(Ala218Gly) Unknown - likely benign g.119736626G>C g.118815471G>C SEC24D(NM_001318066.1):c.653C>G (p.(Ala218Gly)), SEC24D(NM_001318066.2):c.653C>G (p.A218G) - SEC24D_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.653C>G r.(?) p.(Ala218Gly) Unknown - benign g.119736626G>C - SEC24D(NM_001318066.1):c.653C>G (p.(Ala218Gly)), SEC24D(NM_001318066.2):c.653C>G (p.A218G) - SEC24D_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.673+8G>A r.(=) p.(=) Unknown - benign g.119736598C>T g.118815443C>T SEC24D(NM_014822.4):c.673+8G>A - SEC24D_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696A>G r.(?) p.(Ala232=) Unknown - likely benign g.119736288T>C - SEC24D(NM_001318066.2):c.699A>G (p.A233=) - SEC24D_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.697G>C r.(?) p.(Gly233Arg) Both (homozygous) - likely pathogenic (recessive) g.119736287C>G g.118815132C>G - - SEC24D_000015 - PubMed: Alazami 2015, Journal: Alazami 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 25558065-Fam12DG2051 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
+?/. - c.697G>C r.(?) p.(Gly233Arg) Both (homozygous) ACMG likely pathogenic g.119736287C>G g.118815132C>G - - SEC24D_000015 ACMG PM1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG2051 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.778G>T r.(?) p.(Asp260Tyr) Unknown - likely benign g.119736206C>A g.118815051C>A SEC24D(NM_014822.2):c.778G>T (p.(Asp260Tyr)) - SEC24D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.875C>T r.(?) p.(Pro292Leu) Maternal (confirmed) - pathogenic g.119727036G>A - - - SEC24D_000007 - PubMed: Zhang 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - 1 Raymond Dalgleish
+/. 6 c.875C>T r.(?) p.(Pro292Leu) Maternal (confirmed) - pathogenic (recessive) g.119727036G>A g.118805881G>A - - SEC24D_000007 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-204 PubMed: Li 2020 patient, no family history - no China - - - - - 1 Xiuli Zhao
+/+ 8 c.938G>A r.(?) p.(Arg313His) Paternal (confirmed) - pathogenic g.119718941C>T - - - SEC24D_000006 - PubMed: Zhang 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - 1 Raymond Dalgleish
+/. - c.938G>A r.(?) p.(Arg313His) Maternal (confirmed) - pathogenic (recessive) g.119718941C>T g.118797786C>T - - SEC24D_000006 - PubMed: Takeyari 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI patient PubMed: Takeyari 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.938G>A r.(?) p.(Arg313His) Maternal (confirmed) - likely pathogenic (recessive) g.119718941C>T g.118797786C>T - - SEC24D_000006 - PubMed: Miao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI, stature, short patient PubMed: Miao 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 7 c.938G>A r.(?) p.(Arg313His) Paternal (confirmed) - pathogenic (recessive) g.119718941C>T g.118797786C>T - - SEC24D_000006 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-204 PubMed: Li 2020 patient, no family history - no China - - - - - 1 Xiuli Zhao
-?/. - c.951C>T r.(?) p.(Tyr317=) Unknown - likely benign g.119718928G>A - SEC24D(NM_001318066.2):c.954C>T (p.Y318=) - SEC24D_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1042-6C>G r.(=) p.(=) Unknown - benign g.119689472G>C - SEC24D(NM_001318066.2):c.1045-6C>G - SEC24D_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052A>G r.(?) p.(Tyr351Cys) Unknown - VUS g.119689456T>C - SEC24D(NM_014822.4):c.1052A>G (p.(Tyr351Cys)) - SEC24D_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1065C>T r.(?) p.(His355=) Unknown - likely benign g.119689443G>A g.118768288G>A SEC24D(NM_014822.3):c.1065C>T (p.H355=) - SEC24D_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1091A>G r.(?) p.(Asn364Ser) Unknown - VUS g.119689417T>C - SEC24D(NM_014822.2):c.1091A>G (p.(Asn364Ser)) - SEC24D_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1180+6dup r.(=) p.(=) Unknown - likely benign g.119689322dup - SEC24D(NM_001318066.2):c.1183+6dupC - SEC24D_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1422-10_1422-9dup r.(=) p.(=) Unknown - benign g.119674060_119674061dup - SEC24D(NM_001318066.2):c.1425-10_1425-9dupTT - SEC24D_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1422-9del r.(=) p.(=) Unknown - benign g.119674061del - SEC24D(NM_001318066.1):c.1425-9delT - SEC24D_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1422-9dup r.(=) p.(=) Unknown - benign g.119674061dup - SEC24D(NM_014822.4):c.1422-9dupT - SEC24D_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1440G>A r.(?) p.(Thr480=) Unknown - likely benign g.119674025C>T - SEC24D(NM_001318066.2):c.1443G>A (p.T481=) - SEC24D_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1450C>T r.(?) p.(Arg484*) Paternal (inferred) - pathogenic (recessive) g.119674015G>A g.118752860G>A - - SEC24D_000067 father not available PubMed: Takeyari 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES OI patient PubMed: Takeyari 2018 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Japan - - - - - 1 Johan den Dunnen
?/. - c.1462A>C r.(?) p.(Ile488Leu) Unknown - VUS g.119674003T>G - SEC24D(NM_014822.4):c.1462A>C (p.(Ile488Leu)) - SEC24D_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1576C>T r.(?) p.(Leu526Phe) Unknown - likely benign g.119673889G>A g.118752734G>A SEC24D(NM_001318066.1):c.1579C>T (p.(Leu527Phe)), SEC24D(NM_001318066.2):c.1579C>T (p.L527F) - SEC24D_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1576C>T r.(?) p.(Leu526Phe) Unknown - benign g.119673889G>A - SEC24D(NM_001318066.1):c.1579C>T (p.(Leu527Phe)), SEC24D(NM_001318066.2):c.1579C>T (p.L527F) - SEC24D_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1707+15C>T r.(=) p.(=) Unknown - likely benign g.119673136G>A - SEC24D(NM_001318066.2):c.1710+15C>T - SEC24D_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1708-3dup r.spl? p.? Unknown - likely benign g.119666232dup g.118745077dup SEC24D(NM_014822.2):c.1708-3dup (p.?) - SEC24D_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1708-2A>T r.spl? p.? Unknown - likely benign g.119666217T>A g.118745062T>A SEC24D(NM_014822.2):c.1708-2A>T (p.?) - SEC24D_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1790A>T r.(?) p.(Asp597Val) Unknown - VUS g.119666133T>A - SEC24D(NM_014822.4):c.1790A>T (p.(Asp597Val)) - SEC24D_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1938G>A r.(?) p.(=) Unknown - likely benign g.119665200C>T - SEC24D(NM_001318066.2):c.1941G>A (p.S647=) - SEC24D_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2135A>C r.(?) p.(Asn712Thr) Unknown - likely benign g.119661921T>G - SEC24D(NM_001318066.1):c.2138A>C (p.(Asn713Thr)) - SEC24D_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2142C>T r.(?) p.(Thr714=) Unknown - likely benign g.119661914G>A - SEC24D(NM_001318066.1):c.2145C>T (p.T715=) - SEC24D_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163C>T r.(?) p.(=) Unknown - likely benign g.119661893G>A - SEC24D(NM_001318066.2):c.2166C>T (p.I722=) - SEC24D_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.2185G>A r.(?) p.(Val729Met) Maternal (confirmed) - pathogenic (recessive) g.119661871C>T g.118740716C>T - - SEC24D_000071 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-266 PubMed: Li 2020 patient, family history - no China - - - - - 1 Xiuli Zhao
+/. 17 c.2296G>A r.(?) p.(Gly766Ser) Maternal (confirmed) - pathogenic (recessive) g.119660385C>T g.118739230C>T - - SEC24D_000070 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-514 PubMed: Li 2020 patient, no family history - no China - - - - - 1 Xiuli Zhao
?/. - c.2350G>A r.(?) p.(Ala784Thr) Unknown - VUS g.119660331C>T - SEC24D(NM_014822.4):c.2350G>A (p.(Ala784Thr)) - SEC24D_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2496G>T r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.119659416C>A g.118738261C>A - - SEC24D_000066 in vitro analysis shows affected splicing PubMed: Moosa 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI patient PubMed: Moosa 2016, 2-generation family, 1 affected, unaffected heterozygous carrier parents/ - - Germany China - - - - 1 Johan den Dunnen
-?/. - c.2496+5G>T r.spl? p.? Unknown - likely benign g.119659411C>A - SEC24D(NM_014822.4):c.2496+5G>T - SEC24D_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2528C>T r.(?) p.(Pro843Leu) Unknown - likely benign g.119654036G>A g.118732881G>A SEC24D(NM_001318066.2):c.2531C>T (p.P844L), SEC24D(NM_014822.2):c.2528C>T (p.(Pro843Leu)) - SEC24D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2528C>T r.(?) p.(Pro843Leu) Unknown - likely benign g.119654036G>A - SEC24D(NM_001318066.2):c.2531C>T (p.P844L), SEC24D(NM_014822.2):c.2528C>T (p.(Pro843Leu)) - SEC24D_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2536A>G r.(?) p.(Met846Val) Unknown - likely benign g.119654028T>C g.118732873T>C SEC24D(NM_014822.2):c.2536A>G (p.(Met846Val)) - SEC24D_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2609_2610del r.(?) p.(Arg870Thrfs*10) Paternal (confirmed) - pathogenic (recessive) g.119653957_119653958del g.118732802_118732803del 2609_2610delGA - SEC24D_000068 - PubMed: Miao 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OI, stature, short patient PubMed: Miao 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/+ 21 c.2723G>A r.(?) p.(Cys908Tyr) Paternal (confirmed) - pathogenic g.119652616C>T - - - SEC24D_000004 - PubMed: Zhang 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - 1 Raymond Dalgleish
?/. - c.2726C>G r.(?) p.(Ser909Cys) Unknown - VUS g.119652613G>C - SEC24D(NM_014822.4):c.2726C>G (p.(Ser909Cys)) - SEC24D_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2734C>T r.(?) p.(Arg912Cys) Unknown - VUS g.119652605G>A - SEC24D(NM_001318066.1):c.2737C>T (p.R913C), SEC24D(NM_014822.2):c.2734C>T (p.(Arg912Cys)) - SEC24D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2734C>T r.(?) p.(Arg912Cys) Unknown - VUS g.119652605G>A - SEC24D(NM_001318066.1):c.2737C>T (p.R913C), SEC24D(NM_014822.2):c.2734C>T (p.(Arg912Cys)) - SEC24D_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2755T>C r.(?) p.(Phe919Leu) Unknown - VUS g.119652584A>G - SEC24D(NM_014822.2):c.2755T>C (p.(Phe919Leu)) - SEC24D_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784C>A r.(?) p.(Phe928Leu) Unknown - likely benign g.119652555G>T g.118731400G>T SEC24D(NM_014822.2):c.2784C>A (p.(Phe928Leu)) - SEC24D_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2784C>T r.(?) p.(Phe928=) Unknown - likely benign g.119652555G>A - SEC24D(NM_001318066.1):c.2787C>T (p.F929=) - SEC24D_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 21 c.2842C>T r.(?) p.(Ser948Pro) Maternal (confirmed) - pathogenic g.119652497G>A - - - SEC24D_000005 - PubMed: Zhang 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES OI - PubMed: Zhang 2017 The proband also had dentinogenesis imperfecta. - - China - - - - - 1 Raymond Dalgleish
+/. 21 c.2869A>G r.(?) p.(Thr957Ala) Paternal (confirmed) - pathogenic (recessive) g.119649805T>C g.118728650T>C - - SEC24D_000069 - PubMed: Li 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel OI1 PUMC-266 PubMed: Li 2020 patient, family history - no China - - - - - 1 Xiuli Zhao
+/+ 22 c.2933A>C r.(?) p.(Gln978Pro) Maternal (confirmed) - pathogenic g.119649741T>G - - - SEC24D_000003 - PubMed: Garbes 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES CLCRP - PubMed: Garbes 2015 There were two affected fetuses in this family and a healthy sister heterozygous for the c.2933A>C variant. - - - - - - - - 1 Raymond Dalgleish
-?/. - c.2959-16G>T r.(=) p.(=) Unknown - likely benign g.119644826C>A - SEC24D(NM_001318066.2):c.2962-16G>T - SEC24D_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2959-6dup r.(=) p.(=) Unknown - likely benign g.119644825dup g.118723670dup SEC24D(NM_014822.2):c.2959-6dup (p.(=)) - SEC24D_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2978G>A r.(?) p.(Arg993Gln) Unknown - likely benign g.119644791C>T - SEC24D(NM_001318066.1):c.2981G>A (p.R994Q) - SEC24D_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 23 c.3044C>T r.(?) p.(Ser1015Phe) Maternal (confirmed) - pathogenic g.119644725G>A - - - SEC24D_000002 - PubMed: Garbes 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES CLCRP - PubMed: Garbes 2015 - - - - - - - - - 1 Raymond Dalgleish
+/+ 23 c.3044C>T r.(?) p.(Ser1015Phe) Paternal (confirmed) - pathogenic g.119644725G>A - - - SEC24D_000002 - PubMed: Garbes 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - WES CLCRP - PubMed: Garbes 2015 There were two affected fetuses in this family and a healthy sister heterozygous for the c.2933A>C variant. - - - - - - - - 1 Raymond Dalgleish
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.