Full data view for gene C1R

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_001733.4 transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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     
?/. - c.-4455G>A r.(?) p.(=) Unknown - VUS g.7249439C>T - C1RL(NM_016546.4):c.1012G>A (p.G338R) - C1R_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4365C>T r.(?) p.(=) Unknown - likely benign g.7249349G>A - C1RL(NM_016546.4):c.1102C>T (p.R368C) - C1R_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3-106G>T r.(=) p.(=) Unknown - likely benign g.7244382C>A - C1R(NM_001354346.2):c.31G>T (p.(Glu11*)) - C1R_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3-10G>A r.(=) p.(=) Unknown - likely benign g.7244286C>T - C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A - C1R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3-10G>A r.(=) p.(=) Unknown - likely benign g.7244286C>T - C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A - C1R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3-10G>A r.(=) p.(=) Unknown - likely benign g.7244286C>T - C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A - C1R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.24G>T r.(?) p.(=) Unknown - likely benign g.7244255C>A - C1R(NM_001354346.2):c.66G>T (p.V22=) - C1R_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A r.(?) p.(=) Unknown - likely benign g.7244252C>T g.7091656C>T C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=) - C1R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A r.(?) p.(=) Unknown - likely benign g.7244252C>T - C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=) - C1R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27G>A r.(?) p.(=) Unknown - benign g.7244252C>T - C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=) - C1R_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.149_150delinsAT r.(?) p.(Val50Asp) Unknown - pathogenic g.7244129_7244130delinsAT g.7091533_7091534delinsAT - - C1R_000037 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023 - - - - - - - - - 2 Chloe Angwin
+/. - c.149_150delinsAT r.(?) p.(Val50Asp) Parent #1 - pathogenic (dominant) g.7244129_7244130delinsAT g.7091533_7091534delinsAT 149_150TC>AT - C1R_000037 functional analysis in Grobner 2019 PubMed: Kapferer-Seebacher 2019, Journal: Kapferer-Seebacher 2019, PubMed: Grobner 2019 - - Germline yes - - - - DNA SEQ - - EDS FamB PubMed: Kapferer-Seebacher 2019, Journal: Kapferer-Seebacher 2019 5-generation family, 10 affected, 7 with C1R variant (4F, 3M) F;M - Netherlands - - - - - 7 Johan den Dunnen
-?/. - c.231+6G>A r.(=) p.(=) Unknown - likely benign g.7244042C>T g.7091446C>T C1R(NM_001354346.2):c.273+6G>A, C1R(NM_001733.7):c.231+6G>A - C1R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.231+6G>A r.(=) p.(=) Unknown - benign g.7244042C>T - C1R(NM_001354346.2):c.273+6G>A, C1R(NM_001733.7):c.231+6G>A - C1R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232-98G>A r.(=) p.(=) Unknown - likely benign g.7242942C>T - C1R(NM_001733.7):c.232-98G>A - C1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>T r.(?) p.(Gly93Cys) Unknown - likely benign g.7242799C>A - C1R(NM_001733.7):c.277G>T (p.G93C) - C1R_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.277G>T r.(?) p.(Gly93Cys) Unknown ACMG likely pathogenic g.7242799C>A g.7090203C>A - - C1R_000023 study involves functional analysis PubMed: Grobner et al., 2019 ClinVar-VCV000597277 - Germline yes - - - - DNA SEQ Peripheral blood - EDSPD1 1 PubMed: Grobner et al., 2019 - ? no Australia - - - - - 1 Nassim Louail
?/. - c.336G>C r.(?) p.(Met112Ile) Unknown - VUS g.7242740C>G g.7090144C>G C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....) - C1R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336G>C r.(?) p.(Met112Ile) Unknown - likely benign g.7242740C>G - C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....) - C1R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336G>C r.(?) p.(Met112Ile) Unknown - likely benign g.7242740C>G - C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....) - C1R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336G>C r.(?) p.(Met112Ile) Unknown - likely benign g.7242740C>G - C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....) - C1R_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366C>T r.(?) p.(=) Unknown - likely benign g.7242710G>A - C1R(NM_001733.7):c.366C>T (p.N122=) - C1R_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.419C>T r.(?) p.(Ala140Val) Unknown - VUS g.7242657G>A g.7090061G>A C1R(NM_001733.6):c.419C>T (p.A140V) - C1R_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.455C>T r.(?) p.(Ser152Leu) Unknown - benign g.7242299G>A g.7089703G>A C1R(NM_001733.7):c.455C>T (p.S152L) - C1R_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530G>A r.(?) p.(Arg177His) Unknown - VUS g.7242224C>T g.7089628C>T 530C>T - C1R_000015 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat3AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
-/. - c.618C>T r.(?) p.(=) Unknown - benign g.7242039G>A - C1R(NM_001354346.2):c.660C>T (p.S220=) - C1R_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.628T>G r.(?) p.(Tyr210Asp) Unknown - pathogenic g.7242029A>C g.7089433A>C - - C1R_000036 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
-?/. - c.647C>G r.(?) p.(Pro216Arg) Unknown - likely benign g.7242010G>C g.7089414G>C C1R(NM_001354346.1):c.689C>G (p.P230R), C1R(NM_001354346.2):c.689C>G (p.P230R) - C1R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.647C>G r.(?) p.(Pro216Arg) Unknown - likely benign g.7242010G>C - C1R(NM_001354346.1):c.689C>G (p.P230R), C1R(NM_001354346.2):c.689C>G (p.P230R) - C1R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.656G>A r.(?) p.(Arg219His) Unknown - likely benign g.7242001C>T - C1R(NM_001733.4):c.656G>A (p.(Arg219His)) - C1R_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.658T>G r.(?) p.(Cys220Gly) Unknown other likely pathogenic g.7241999A>C g.7089403A>C - - C1R_000035 Predicted to replace a highly conserved cysteine residue with glycine in the “R” subunit of the C1r protein, Heterozygous missense variant. Not listed in gnomAD, ClinVar or HGMD. MutationTaster, fathmm, Mutation Assessor, SIFT, fathmm-MKL coding, LRT, and PROVEAN consistently consider this variant as pathogenic. PubMed: Stock et al., 2021 - - De novo yes - - - - DNA SEQ, SEQ-NG-I Peripheral blood - EDSCL1, EDSPD2 IV-2 PubMed: Stock et al., 2021 German family with classical EDS was investigated. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of cEDS with a heterozygous mutation in COL5A1. An additional diagnosis of periodontal EDS was suspected and genetic analysis revealed a novel missense mutation in C1R in a heterozygous state. F no Germany - - - - - 1 Nassim Louail
?/. - c.671T>G r.(?) p.(Ile224Ser) Unknown - VUS g.7241986A>C - C1R(NM_001733.4):c.671T>G (p.(Ile224Ser)) - C1R_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.682C>T r.(?) p.(Arg228Trp) Unknown - likely benign g.7241975G>A g.7089379G>A C1R(NM_001354346.2):c.724C>T (p.R242W) - C1R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689T>C r.(?) p.(Leu230Pro) Unknown - pathogenic (dominant) g.7241968A>G g.7089372A>G Phe236Ser - C1R_000034 - Journal: Angwin 2023 - - Germline - - - - - DNA SEQ - - EDSPD2 - PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023 - - - - - - - - - 4 Chloe Angwin
+/. - c.702_711delinsT r.(?) p.(Lys235_Leu237del) Unknown - pathogenic (dominant) g.7241946_7241955delinsA g.7089350_7089359delinsA - - C1R_000032 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023 - - - - - - - - - 2 Chloe Angwin
+/. - c.707T>C r.(?) p.(Phe236Ser) Unknown - pathogenic (dominant) g.7241950A>G g.7089354A>G - - C1R_000033 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
-?/. - c.768+5A>C r.spl? p.? Unknown - likely benign g.7241884T>G g.7089288T>G C1R(NM_001733.6):c.768+5A>C - C1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.821C>G r.(?) p.(Pro274Arg) Unknown - likely benign g.7241530G>C - - - C1R_000044 - - - rs1555164462 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.869A>G r.(?) p.(Asp290Gly) Unknown - pathogenic (dominant) g.7241482T>C g.7088886T>C - - C1R_000031 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
+?/. - c.869A>G r.(?) p.Asp290Gly Unknown ACMG likely pathogenic (dominant) g.7241482T>C g.7088886T>C - - C1R_000031 functional analysis in Grobner 2019 PubMed: Kapferer-Seebacher 2016, Journal: Kapferer-Seebacher 2016, PubMed: Grobner 2019 ClinVar-VCV000267356 - Germline yes - - - - DNA SEQ Peripheral blood - EDSPD1 Fam2 PubMed: Kapferer-Seebacher 2016, Journal: Kapferer-Seebacher 2016 - F no - - - - - - 1 Nassim Louail
?/. - c.876G>A r.(?) p.(=) Unknown - VUS g.7241475C>T - C1R(NM_001733.6):c.876G>A (p.S292=) - C1R_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876G>C r.(?) p.(=) Unknown - likely benign g.7241475C>G - C1R(NM_001354346.2):c.918G>C (p.S306=) - C1R_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.890G>A r.(?) p.(Gly297Asp) Unknown ACMG likely pathogenic (dominant) g.7241461C>T g.7088865C>T - - C1R_000039 functional analysis in Grobner 2019 PubMed: Kapferer-Seebacher 2016, Journal: Kapferer-Seebacher 2016, PubMed: Grobner 2019 ClinVar-VCV000372129 - Germline - - - - - DNA SEQ Peripheral blood - EDSPD1 Fam3 PubMed: Kapferer-Seebacher 2016, Journal: Kapferer-Seebacher 2016 - F no - - - - - - 1 Nassim Louail
+/. - c.926G>A r.(?) p.(Cys309Tyr) Unknown - pathogenic g.7241318C>T g.7088722C>T C1R(NM_001733.6):c.926G>A (p.C309Y) - C1R_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.926G>A r.(?) p.(Cys309Tyr) Unknown - pathogenic (dominant) g.7241318C>T g.7088722C>T - - C1R_000009 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
+/. - c.926G>T r.(?) p.(Cys309Phe) Unknown - pathogenic g.7241318C>A g.7088722C>A C1R(NM_001733.7):c.926G>T (p.C309F) - C1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.926G>T r.(?) p.(Cys309Phe) Parent #1 - pathogenic (dominant) g.7241318C>A g.7088722C>A - - C1R_000003 functional analysis in Grobner 2019 PubMed: Kapferer-Seebacher 2019, Journal: Kapferer-Seebacher 2019, PubMed: Grobner 2019 - - Germline - - - - - DNA SEQ - - EDS FamA PubMed: Kapferer-Seebacher 2019, Journal: Kapferer-Seebacher 2019 4-generation family, 6 affected, 3 C1R variant (F, 2M)) F;M - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1039-16G>A r.(=) p.(=) Unknown - likely benign g.7189427C>T - C1R(NM_001354346.2):c.1082-15G>A - C1R_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1039-4C>T r.spl? p.? Unknown - likely benign g.7189415G>A - C1R(NM_001354346.2):c.1082-3C>T - C1R_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1073G>A r.(?) p.(Cys358Tyr) Unknown - pathogenic (dominant) g.7189379C>T g.7086423C>T - - C1R_000029 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
+/. - c.1073G>T r.(?) p.(Cys358Phe) Unknown - pathogenic g.7189379C>A g.7086423C>A - - C1R_000030 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 2 Chloe Angwin
-?/. - c.1108T>C r.(?) p.(=) Unknown - likely benign g.7189342A>G - C1R(NM_001733.7):c.1110T>C (p.S370=) - C1R_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1113C>G r.(?) p.(Cys371Trp) Unknown - pathogenic g.7189339G>C g.7086383G>C - - C1R_000028 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - PubMed: Kapferer-Seebacher 2021, Journal: Kapferer-Seebacher 2021, Journal: Angwin 2023 - - - - - - - - - 2 Chloe Angwin
-/. - c.1158C>A r.(?) p.(=) Unknown - benign g.7188562G>T g.7091654G>T C1R(NM_001354346.2):c.1202C>A (p.S401Y) - C1R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1246G>A r.(?) p.(Asp416Asn) Unknown - likely benign g.7188474C>T - C1R(NM_001354346.2):c.1290G>A (p.R430=) - C1R_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(1273+1_1274-1)_(1348+1_1349-1)del r.? p.(Gly425_Pro449del) Unknown - likely pathogenic g.(7188609_7189338)_(7189411_7193164)del g.(7081305_7082034)_(7082107_7085860)del - - C1R_000038 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 2 Chloe Angwin
-/. - c.1293C>T r.(?) p.(=) Unknown - benign g.7188427G>A - C1R(NM_001733.7):c.1295C>T (p.P432L) - C1R_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1339T>C r.(?) p.(Cys447Arg) Unknown - pathogenic g.7189345A>G g.7082041A>G g.7188383A>G - C1R_000027 - Journal: Angwin 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - - EDSPD2 - Journal: Angwin 2023 - - - - - - - - - 1 Chloe Angwin
-?/. - c.1343T>C r.(?) p.(Val448Ala) Unknown - likely benign g.7188377A>G - C1R(NM_001733.7):c.1343T>C (p.(Val448Ala)) - C1R_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1382G>A r.(?) p.(Arg461Lys) Unknown - VUS g.7188338C>T - C1R(NM_001354346.1):c.1426G>A (p.E476K) - C1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1606G>A r.(?) p.(Val536Ile) Unknown - likely benign g.7188114C>T - C1R(NM_001733.7):c.1840G>A (p.(Val614Ile)) - C1R_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*83C>T r.(=) p.(=) Unknown - likely benign g.7187753G>A g.7091485C>A C1R(NM_001354346.1):c.*83C>T - C1R_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1872G>A r.(?) p.(=) Unknown - likely benign g.7187848C>T - C1R(NM_001354346.2):c.1916G>A (p.R639Q) - C1R_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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