Full data view for gene CSRP3

Information The variants shown are described using the NM_003476.4 transcript reference sequence.

195 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-74A>C r.(?) p.(=) Unknown - benign g.19223546T>G g.19201999T>G - - CSRP3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-46C>T r.(?) p.(=) Unknown - likely benign g.19223518G>A g.19201971G>A - - CSRP3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9C>G r.(?) p.(Asn3Lys) Unknown - VUS g.19213987G>C g.19192440G>C CSRP3(NM_003476.5):c.9C>G (p.N3K) - CSRP3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9C>G r.(?) p.(Asn3Lys) Unknown - VUS g.19213987G>C - CSRP3(NM_003476.5):c.9C>G (p.N3K) - CSRP3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - VUS g.19213986A>G g.19192439A>G NM_001127656:c.T10C - CSRP3_000035 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - VUS g.19213986A>G g.19192439A>G NM_001127656:c.T10C - CSRP3_000035 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - VUS g.19213986A>G g.19192439A>G NM_001127656:c.T10C - CSRP3_000035 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - benign g.19213986A>G g.19192439A>G CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R) - CSRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - likely benign g.19213986A>G g.19192439A>G CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R) - CSRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - likely benign g.19213986A>G g.19192439A>G CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R) - CSRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - likely benign g.19213986A>G g.19192439A>G CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R) - CSRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.10T>C r.(?) p.(Trp4Arg) Parent #1 - VUS g.19213986A>G g.19192439A>G - - CSRP3_000035 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs45550635 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - VUS g.19213986A>G - - - CSRP3_000035 - PubMed: Haskell 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? NCG_00061 PubMed: Haskell 2017 analysis 55 patients M - United States white - - - - 1 Johan den Dunnen
-?/. - c.10T>C r.(?) p.(Trp4Arg) Unknown - likely benign g.19213986A>G - CSRP3(NM_003476.3):c.10T>C (p.W4R), CSRP3(NM_003476.5):c.10T>C (p.W4R) - CSRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16G>A r.(?) p.(Gly6Arg) Parent #1 - VUS g.19213980C>T g.19192433C>T - - CSRP3_000115 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185980145 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.34G>A r.(?) p.(Ala12Thr) Unknown - VUS g.19213962C>T g.19192415C>T - - CSRP3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.48C>T r.(?) p.(Thr16=) Unknown - benign g.19213948G>A g.19192401G>A CSRP3(NM_003476.5):c.48C>T (p.T16=) - CSRP3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50_51insGCAGATTTCTT r.(?) p.(Tyr18GlnfsTer194) Unknown - VUS g.19213946_19213947insAGAAATCTGCA g.19192399_19192400insAGAAATCTGCA CSRP3(NM_003476.3):c.50_51insGCAGATTTCTT (p.Y18Qfs*194) - CSRP3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73T>C r.(?) p.(Cys25Arg) Unknown - VUS g.19213923A>G g.19192376A>G CSRP3(NM_003476.5):c.73T>C (p.C25R) - CSRP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.73T>C r.(?) p.(Cys25Arg) Unknown - VUS g.19213923A>G - CSRP3(NM_003476.5):c.73T>C (p.C25R) - CSRP3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85A>G r.(?) p.(Ser29Gly) Unknown - VUS g.19213911T>C g.19192364T>C CSRP3(NM_003476.5):c.85A>G (p.S29G) - CSRP3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>T r.(?) p.(Phe30=) Unknown - likely benign g.19213906G>A g.19192359G>A CSRP3(NM_003476.3):c.90C>T (p.F30=) - CSRP3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Thr33Met) Unknown - VUS g.19213898G>A g.19192351G>A CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M) - CSRP3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Thr33Met) Unknown - VUS g.19213898G>A g.19192351G>A CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M) - CSRP3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Thr33Met) Unknown - VUS g.19213898G>A g.19192351G>A CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M) - CSRP3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Thr33Met) Unknown - VUS g.19213898G>A g.19192351G>A CSRP3(NM_003476.3):c.98C>T (p.T33M), CSRP3(NM_003476.5):c.98C>T (p.T33M) - CSRP3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99G>A r.(?) p.(Thr33=) Unknown - likely benign g.19213897C>T - - - CSRP3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.112+1G>A r.spl p.? Unknown - likely pathogenic g.19213883C>T g.19192336C>T - - CSRP3_000122 - PubMed: Walsh 2017 - - Germline - 1/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.113-14C>G r.(=) p.(=) Unknown - likely benign g.19209865G>C g.19188318G>C - - CSRP3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113-2A>G r.spl? p.? Unknown - VUS g.19209853T>C - CSRP3(NM_003476.5):c.113-2A>G - CSRP3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_7_ c.(112+1_113-1)_(*640_?)del r.? p.? Unknown - VUS g.(19209852_19213883)_(19213867_19220000)del - g.18536283_19213867del - CSRP3_000076 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - MYOP Patient XVI PubMed: Giugliano 2018 - M ? - - - - - - 1 Teresa Giugliano
?/. - c.116C>G r.(?) p.(Ala39Gly) Unknown - VUS g.19209848G>C - CSRP3(NM_003476.5):c.116C>G (p.A39G) - CSRP3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G g.19188286A>G CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P) - CSRP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G g.19188286A>G CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P) - CSRP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G g.19188286A>G CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P) - CSRP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G g.19188286A>G CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P) - CSRP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131T>C r.(?) p.(Leu44Pro) Parent #1 - VUS g.19209833A>G g.19188286A>G - - CSRP3_000043 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894205 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G g.19188286A>G - - CSRP3_000043 - PubMed: Walsh 2017 - - Germline - 2/1535 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - VUS g.19209833A>G g.19188286A>G - - CSRP3_000043 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G - CSRP3(NM_003476.3):c.131T>C (p.L44P), CSRP3(NM_003476.5):c.131T>C (p.L44P) - CSRP3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.131T>C r.(?) p.(Leu44Pro) Unknown - likely pathogenic g.19209833A>G - - - CSRP3_000043 - - - rs104894205 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136A>C r.(?) p.(Ser46Arg) Unknown - likely pathogenic g.19209828T>G g.19188281T>G - - CSRP3_000111 - PubMed: Walsh 2017 - - Germline - 1/590 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.136A>C r.(?) p.(Ser46Arg) Unknown - likely pathogenic g.19209828T>G - CSRP3(NM_003476.5):c.136A>C (p.S46R) - CSRP3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.137G>A r.(?) p.(Ser46Asn) Unknown - likely pathogenic g.19209827C>T g.19188280C>T - - CSRP3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A g.19188277G>A CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met)) - CSRP3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A g.19188277G>A CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met)) - CSRP3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A - CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met)) - CSRP3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A g.19188277G>A - - CSRP3_000101 - PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A - CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met)) - CSRP3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140C>T r.(?) p.(Thr47Met) Unknown - VUS g.19209824G>A - CSRP3(NM_003476.3):c.140C>T (p.T47M), CSRP3(NM_003476.5):c.140C>T (p.T47M, p.(Thr47Met)) - CSRP3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.141G>A r.(?) p.(Thr47=) Unknown - benign g.19209823C>T g.19188276C>T CSRP3(NM_003476.5):c.141G>A (p.T47=) - CSRP3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148G>A r.(?) p.(Ala50Thr) Unknown - VUS g.19209816C>T g.19188269C>T - - CSRP3_000121 - PubMed: Walsh 2017 - - Germline - 1/590 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - likely pathogenic g.19209815G>A g.19188268G>A CSRP3(NM_003476.3):c.149C>T (p.A50V) - CSRP3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.19209815G>A g.19188268G>A CSRP3(NM_003476.3):c.149C>T (p.A50V) - CSRP3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150G>A r.(?) p.(Ala50=) Unknown - benign g.19209814C>T g.19188267C>T CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=) - CSRP3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150G>A r.(?) p.(Ala50=) Unknown - benign g.19209814C>T g.19188267C>T CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=) - CSRP3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150G>A r.(?) p.(Ala50=) Unknown - benign g.19209814C>T g.19188267C>T CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=) - CSRP3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.150G>A r.(?) p.(Ala50=) Unknown - benign g.19209814C>T g.19188267C>T CSRP3(NM_003476.3):c.150G>A (p.A50=), CSRP3(NM_003476.5):c.150G>A (p.A50=) - CSRP3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152C>A r.(?) p.(Ala51Asp) Unknown - VUS g.19209812G>T g.19188265G>T - - CSRP3_000120 - PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.152C>A r.(?) p.(Ala51Asp) Unknown - VUS g.19209812G>T - CSRP3(NM_003476.5):c.152C>A (p.A51D) - CSRP3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161C>T r.(?) p.(Ser54Leu) Unknown - VUS g.19209803G>A g.19188256G>A CSRP3(NM_003476.5):c.161C>T (p.S54L) - CSRP3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.162G>A r.(?) p.(Ser54=) Unknown - benign g.19209802C>T g.19188255C>T CSRP3(NM_003476.3):c.162G>A (p.S54=), CSRP3(NM_003476.5):c.162G>A (p.S54=) - CSRP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.162G>A r.(?) p.(Ser54=) Unknown - likely benign g.19209802C>T - CSRP3(NM_003476.3):c.162G>A (p.S54=), CSRP3(NM_003476.5):c.162G>A (p.S54=) - CSRP3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.172T>G r.(?) p.(Cys58Gly) Unknown - likely pathogenic g.19209792A>C g.19188245A>C - - CSRP3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.190C>T r.(?) p.(Arg64Cys) Unknown - VUS g.19209774G>A - - - CSRP3_000132 - - - rs368392588 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Arg64His) Unknown - VUS g.19209773C>T g.19188226C>T CSRP3(NM_003476.5):c.191G>A (p.R64H) - CSRP3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191G>A r.(?) p.(Arg64His) Unknown - VUS g.19209773C>T g.19188226C>T - - CSRP3_000096 - PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.195A>T r.(?) p.(Arg65Ser) Unknown - VUS g.19209769T>A g.19188222T>A - - CSRP3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197A>G r.(?) p.(Tyr66Cys) Unknown - VUS g.19209767T>C g.19188220T>C - - CSRP3_000119 - PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.202C>G r.(?) p.(Pro68Ala) Unknown - VUS g.19209762G>C g.19188215G>C CSRP3(NM_003476.5):c.202C>G (p.P68A) - CSRP3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>T r.(?) p.(Gly70Trp) Unknown - VUS g.19209756C>A g.19188209C>A CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W) - CSRP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>T r.(?) p.(Gly70Trp) Unknown - VUS g.19209756C>A g.19188209C>A CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W) - CSRP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>T r.(?) p.(Gly70Trp) Unknown - VUS g.19209756C>A g.19188209C>A - - CSRP3_000045 variant definitively linked to disease Fusco 2042, submitted - rs777211110 Germline - - - - - DNA SEQ-NG blood - CM Fam53Pat97 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
-?/. - c.208G>T r.(?) p.(Gly70Trp) Unknown - likely benign g.19209756C>A - CSRP3(NM_003476.5):c.208G>T (p.(Gly70Trp), p.G70W) - CSRP3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211A>C r.(?) p.(Ile71Leu) Unknown - likely benign g.19209753T>G g.19188206T>G - - CSRP3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A g.19188204G>A CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A g.19188204G>A CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A g.19188204G>A CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.213C>T r.(?) p.(Ile71=) Unknown - likely benign g.19209751G>A g.19188204G>A CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A g.19188204G>A CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A - - - CSRP3_000094 - - - rs45476991 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213C>T r.(?) p.(Ile71=) Unknown - benign g.19209751G>A - CSRP3(NM_003476.3):c.213C>T (p.I71=), CSRP3(NM_003476.5):c.213C>T (p.I71=, p.(Ile71=)) - CSRP3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>A r.(?) p.(Gly72=) Unknown - likely benign g.19209748C>T g.19188201C>T CSRP3(NM_003476.3):c.216G>A (p.G72=) - CSRP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.221del r.(?) p.(Gly74AspfsTer134) Unknown - VUS g.19209744del - CSRP3(NM_003476.3):c.221delG (p.G74Dfs*134) - CSRP3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229G>A r.(?) p.(Ala77Thr) Unknown - VUS g.19209735C>T g.19188188C>T CSRP3(NM_003476.3):c.229G>A (p.A77T) - CSRP3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247G>C r.(?) p.(Asp83His) Unknown - VUS g.19209717C>G - CSRP3(NM_003476.5):c.247G>C (p.D83H) - CSRP3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251C>T r.(?) p.(Thr84Met) Unknown - VUS g.19209713G>A g.19188166G>A CSRP3(NM_003476.5):c.251C>T (p.T84M) - CSRP3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264C>A r.(?) p.(Leu88=) Unknown - likely benign g.19209700G>T g.19188153G>T CSRP3(NM_003476.3):c.264C>A (p.L88=) - CSRP3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265G>T r.(?) p.(Gly89Cys) Unknown - VUS g.19209699C>A g.19188152C>A CSRP3(NM_003476.5):c.265G>T (p.G89C) - CSRP3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265G>T r.(?) p.(Gly89Cys) Unknown - VUS g.19209699C>A - CSRP3(NM_003476.5):c.265G>T (p.G89C) - CSRP3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.281+25T>G r.(=) p.(=) Unknown - benign g.19209658A>C g.19188111A>C CSRP3(NM_003476.3):c.281+25T>G - CSRP3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.281+43A>G r.(=) p.(=) Unknown - benign g.19209640T>C g.19188093T>C - - CSRP3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282-28G>A r.(=) p.(=) Unknown - likely benign g.19207923C>T g.19186376C>T - - CSRP3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282-5_285del r.spl? p.? Unknown - VUS g.19207895_19207903del g.19186348_19186356del CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG - CSRP3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282-5_285del r.spl? p.? Unknown - VUS g.19207895_19207903del g.19186348_19186356del CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG - CSRP3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282-5_285del r.spl? p.? Unknown - VUS g.19207895_19207903del g.19186348_19186356del CSRP3(NM_003476.3):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-5_285delAACAGGTCC, CSRP3(NM_003476.5):c.282-8_282delTCCAACAGG - CSRP3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282-5_285del r.spl p.? Unknown - VUS g.19207895_19207903del g.19186348_19186356del 282-5_285delAACAGGTCC - CSRP3_000063 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/632 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.282G>T r.(?) p.(Gln94His) Unknown - likely benign g.19207895C>A - CSRP3(NM_003476.5):c.282G>T (p.Q94H) - CSRP3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>T r.(?) p.(Gln94His) Unknown - VUS g.19207895C>A - CSRP3(NM_003476.5):c.282G>T (p.Q94H) - CSRP3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>T r.(?) p.(Gln94His) Unknown - VUS g.19207895C>A - CSRP3(NM_003476.5):c.282G>T (p.Q94H) - CSRP3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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