Full data view for gene HAVCR2

Information The variants shown are described using the NM_032782.4 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.90C>T r.(?) p.(=) Unknown - VUS g.156533942G>A - HAVCR2(NM_032782.5):c.90C>T (p.(Val30=)) - HAVCR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150C>T r.(?) p.(Pro50=) Unknown - likely benign g.156533882G>A - HAVCR2(NM_032782.4):c.150C>T (p.P50=) - HAVCR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255T>C r.(?) p.(=) Unknown - likely benign g.156533777A>G - HAVCR2(NM_032782.5):c.255T>C (p.N85=) - HAVCR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.291A>G r.(?) p.(Ile97Met) Unknown - likely pathogenic g.156533741T>C - HAVCR2(NM_032782.4):c.291A>G (p.I97M), HAVCR2(NM_032782.5):c.291A>G (p.I97M) - HAVCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.291A>G r.(?) p.(Ile97Met) Unknown - likely pathogenic g.156533741T>C - HAVCR2(NM_032782.4):c.291A>G (p.I97M), HAVCR2(NM_032782.5):c.291A>G (p.I97M) - HAVCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.291A>G r.(?) p.(Ile97Met) Unknown - likely pathogenic g.156533741T>C - HAVCR2(NM_032782.4):c.291A>G (p.I97M), HAVCR2(NM_032782.5):c.291A>G (p.I97M) - HAVCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.291A>G r.(?) p.(Ile97Met) Unknown - VUS g.156533741T>C - HAVCR2(NM_032782.4):c.291A>G (p.I97M), HAVCR2(NM_032782.5):c.291A>G (p.I97M) - HAVCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.291A>G r.(?) p.(Ile97Met) Unknown - likely pathogenic g.156533741T>C - HAVCR2(NM_032782.4):c.291A>G (p.I97M), HAVCR2(NM_032782.5):c.291A>G (p.I97M) - HAVCR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302C>T r.(?) p.(Thr101Ile) Unknown - VUS g.156533730G>A - HAVCR2(NM_032782.4):c.302C>T (p.T101I), HAVCR2(NM_032782.5):c.302C>T (p.T101I) - HAVCR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.302C>T r.(?) p.(Thr101Ile) Unknown - likely benign g.156533730G>A - HAVCR2(NM_032782.4):c.302C>T (p.T101I), HAVCR2(NM_032782.5):c.302C>T (p.T101I) - HAVCR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302C>T r.(?) p.(Thr101Ile) Unknown - VUS g.156533730G>A - HAVCR2(NM_032782.4):c.302C>T (p.T101I), HAVCR2(NM_032782.5):c.302C>T (p.T101I) - HAVCR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388A>G r.(?) p.(Lys130Glu) Unknown - likely benign g.156533644T>C - HAVCR2(NM_032782.4):c.388A>G (p.K130E) - HAVCR2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.414G>T r.(?) p.(=) Unknown - VUS g.156531741C>A - HAVCR2(NM_032782.5):c.414G>T (p.(Pro138=)) - HAVCR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461C>G r.(?) p.(Thr154Ser) Unknown - likely benign g.156531694G>C - HAVCR2(NM_032782.4):c.461C>G (p.T154S), HAVCR2(NM_032782.5):c.461C>G (p.(Thr154Ser)) - HAVCR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461C>G r.(?) p.(Thr154Ser) Unknown - likely benign g.156531694G>C - HAVCR2(NM_032782.4):c.461C>G (p.T154S), HAVCR2(NM_032782.5):c.461C>G (p.(Thr154Ser)) - HAVCR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479-12_479-9dup r.(=) p.(=) Unknown - likely benign g.156525939_156525942dup - HAVCR2(NM_032782.5):c.479-12_479-9dup, HAVCR2(NM_032782.5):c.479-14_479-11dupCTCT - HAVCR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479-12_479-9dup r.(=) p.(=) Unknown - VUS g.156525939_156525942dup - HAVCR2(NM_032782.5):c.479-12_479-9dup, HAVCR2(NM_032782.5):c.479-14_479-11dupCTCT - HAVCR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479-10_479-9dup r.(=) p.(=) Unknown - likely benign g.156525941_156525942dup - HAVCR2(NM_032782.5):c.479-10_479-9dupCT - HAVCR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509A>T r.(?) p.(Asp170Val) Unknown - VUS g.156525882T>A - HAVCR2(NM_032782.4):c.509A>T (p.D170V), HAVCR2(NM_032782.5):c.509A>T (p.D170V) - HAVCR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509A>T r.(?) p.(Asp170Val) Unknown - VUS g.156525882T>A - HAVCR2(NM_032782.4):c.509A>T (p.D170V), HAVCR2(NM_032782.5):c.509A>T (p.D170V) - HAVCR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509A>T r.(?) p.(Asp170Val) Unknown - likely benign g.156525882T>A - HAVCR2(NM_032782.4):c.509A>T (p.D170V), HAVCR2(NM_032782.5):c.509A>T (p.D170V) - HAVCR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.623G>C r.(?) p.(Gly208Ala) Unknown - likely benign g.156522370C>G - HAVCR2(NM_032782.4):c.623G>C (p.G208A) - HAVCR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776G>A r.(?) p.(Arg259His) Unknown - likely benign g.156514243C>T - HAVCR2(NM_032782.4):c.776G>A (p.R259H), HAVCR2(NM_032782.5):c.776G>A (p.R259H) - HAVCR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776G>A r.(?) p.(Arg259His) Unknown - likely benign g.156514243C>T - HAVCR2(NM_032782.4):c.776G>A (p.R259H), HAVCR2(NM_032782.5):c.776G>A (p.R259H) - HAVCR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.810C>T r.(?) p.(Asn270=) Unknown - likely benign g.156514209G>A - HAVCR2(NM_032782.5):c.810C>T (p.N270=) - HAVCR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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