Full data view for gene GMPR2

Information The variants shown are described using the NM_016576.3 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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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.496C>T r.(?) p.(Arg166Cys) Unknown - likely benign g.24705323C>T g.24236117C>T GMPR2(NM_001002000.2):c.442C>T (p.(Arg148Cys)) - GMPR2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*771C>T r.(=) p.(=) Unknown - likely benign g.24708755C>T - TINF2(NM_001099274.1):c.*248G>A (p.(=)) - GMPR2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1063G>C r.(=) p.(=) Unknown - likely benign g.24709047G>C g.24239841G>C TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala)) - TINF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1063G>C r.(=) p.(=) Unknown - VUS g.24709047G>C g.24239841G>C TINF2(NM_001099274.1):c.1312C>G (p.P438A, p.(Pro438Ala)) - TINF2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1066T>C r.(=) p.(=) Unknown - likely benign g.24709050T>C g.24239844T>C TINF2(NM_001099274.1):c.1309A>G (p.I437V) - GMPR2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1073G>A r.(=) p.(=) Unknown - likely benign g.24709057G>A g.24239851G>A TINF2(NM_001099274.1):c.1302C>T (p.H434=), TINF2(NM_001099274.3):c.1302C>T (p.H434=) - GMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1073G>A r.(=) p.(=) Unknown - likely benign g.24709057G>A - TINF2(NM_001099274.1):c.1302C>T (p.H434=), TINF2(NM_001099274.3):c.1302C>T (p.H434=) - GMPR2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1075G>A r.(=) p.(=) Unknown - likely benign g.24709059G>A g.24239853G>A TINF2(NM_001099274.1):c.1300C>T (p.H434Y) - GMPR2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1091G>A r.(=) p.(=) Unknown - likely benign g.24709075G>A g.24239869G>A TINF2(NM_001099274.1):c.1284C>T (p.Y428=) - TINF2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1139G>A r.(=) p.(=) Unknown - benign g.24709123G>A - TINF2(NM_001099274.1):c.1236C>T (p.(Asn412=)) - GMPR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1139G>A r.(=) p.(=) Unknown - likely benign g.24709123G>A - TINF2(NM_001099274.1):c.1236C>T (p.(Asn412=)) - GMPR2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1275T>C r.(=) p.(=) Unknown - likely benign g.24709259T>C - TINF2(NM_012461.2):c.*362A>G (p.?) - GMPR2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1291C>T r.(=) p.(=) Unknown - VUS g.24709275C>T g.24240069C>T TINF2(NM_001099274.1):c.1216G>A (p.G406R), TINF2(NM_001099274.3):c.1216G>A (p.G406R) - GMPR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1291C>T r.(=) p.(=) Unknown - VUS g.24709275C>T - TINF2(NM_001099274.1):c.1216G>A (p.G406R), TINF2(NM_001099274.3):c.1216G>A (p.G406R) - GMPR2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1341A>G r.(=) p.(=) Unknown - VUS g.24709325A>G g.24240119A>G TINF2(NM_001099274.1):c.1166T>C (p.I389T), TINF2(NM_001099274.3):c.1166T>C (p.(Ile389Thr)) - GMPR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1341A>G r.(=) p.(=) Unknown - likely benign g.24709325A>G - TINF2(NM_001099274.1):c.1166T>C (p.I389T), TINF2(NM_001099274.3):c.1166T>C (p.(Ile389Thr)) - GMPR2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1522C>T r.(=) p.(=) Unknown - likely benign g.24709506C>T g.24240300C>T TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=)) - TINF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1522C>T r.(=) p.(=) Unknown - likely benign g.24709506C>T g.24240300C>T TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=)) - TINF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1522C>T r.(=) p.(=) Unknown - benign g.24709506C>T - TINF2(NM_001099274.1):c.1092G>A (p.L364=, p.(Leu364=)) - TINF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1527G>A r.(=) p.(=) Unknown - VUS g.24709511G>A - TINF2(NM_001099274.3):c.1087C>T (p.(Pro363Ser)) - GMPR2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1639_*1642del r.(=) p.(=) Unknown - VUS g.24709623_24709626del - TINF2(NM_001099274.3):c.1061+4_1061+7delAGTG - GMPR2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*1658del r.(?) p.(=) Unknown - likely pathogenic g.24709642del - - - GMPR2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1717T>C r.(=) p.(=) Unknown - VUS g.24709701T>C - TINF2(NM_001099274.3):c.985A>G (p.K329E) - GMPR2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1789T>C r.(=) p.(=) Unknown - likely benign g.24709773T>C g.24240567T>C TINF2(NM_001099274.3):c.913A>G (p.S305G), TINF2(NM_012461.2):c.913A>G (p.S305G) - TINF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1789T>C r.(=) p.(=) Unknown - VUS g.24709773T>C - TINF2(NM_001099274.3):c.913A>G (p.S305G), TINF2(NM_012461.2):c.913A>G (p.S305G) - TINF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1844C>G r.(=) p.(=) Unknown - VUS g.24709828C>G g.24240622C>G TINF2(NM_012461.3):c.858G>C (p.M286I) - GMPR2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1857C>T r.(=) p.(=) Unknown - pathogenic g.24709841C>T - TINF2(NM_001099274.1):c.845G>A (p.(Arg282His)) - TINF2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*1858G>A r.(=) p.(=) Unknown - pathogenic g.24709842G>A - - - TINF2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1883G>A r.(=) p.(=) Unknown - likely benign g.24709867G>A g.24240661G>A TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=) - GMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1883G>A r.(=) p.(=) Unknown - likely benign g.24709867G>A g.24240661G>A TINF2(NM_012461.2):c.819C>T (p.A273=), TINF2(NM_012461.3):c.819C>T (p.A273=) - GMPR2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1931G>A r.(=) p.(=) Unknown - likely benign g.24709915G>A g.24240709G>A TINF2(NM_012461.2):c.771C>T (p.H257=) - TINF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1968G>T r.(=) p.(=) Unknown - VUS g.24709952G>T g.24240746G>T TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)... - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1968G>T r.(=) p.(=) Unknown - likely benign g.24709952G>T g.24240746G>T TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)... - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1968G>T r.(=) p.(=) Unknown - VUS g.24709952G>T - TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)... - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1968G>T r.(=) p.(=) Unknown - likely benign g.24709952G>T - TINF2(NM_001099274.1):c.734C>A (p.(Ser245Tyr)), TINF2(NM_001099274.3):c.734C>A (p.S245Y), TINF2(NM_012461.2):c.734C>A (p.S245Y), TINF2(NM_012461.3)... - TINF2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1979A>T r.(=) p.(=) Unknown - likely benign g.24709963A>T g.24240757A>T TINF2(NM_012461.2):c.723T>A (p.P241=) - GMPR2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2242C>G r.(=) p.(=) Unknown - likely pathogenic g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2242C>G r.(=) p.(=) Unknown - VUS g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2242C>G r.(=) p.(=) Unknown - VUS g.24710226C>G g.24241020C>G TINF2(NM_001099274.1):c.604G>C (p.(Glu202Gln)), TINF2(NM_012461.2):c.604G>C (p.E202Q) - TINF2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2256C>T r.(=) p.(=) Unknown - likely benign g.24710240C>T - TINF2(NM_001099274.1):c.590G>A (p.(Gly197Glu)) - GMPR2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2268C>G r.(=) p.(=) Unknown - likely benign g.24710252C>G g.24241046C>G TINF2(NM_012461.2):c.578G>C (p.G193A) - GMPR2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2280C>T r.(=) p.(=) Unknown - VUS g.24710264C>T - TINF2(NM_001099274.1):c.566G>A (p.(Trp189*)) - GMPR2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2469A>G r.(=) p.(=) Unknown - VUS g.24710453A>G - TINF2(NM_001099274.1):c.464T>C (p.(Leu155Ser)), TINF2(NM_012461.2):c.464T>C (p.L155S) - GMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2469A>G r.(=) p.(=) Unknown - VUS g.24710453A>G - TINF2(NM_001099274.1):c.464T>C (p.(Leu155Ser)), TINF2(NM_012461.2):c.464T>C (p.L155S) - GMPR2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*2483_*2484insTGATC r.(=) p.(=) Unknown - likely pathogenic g.24710467_24710468insTGATC - TINF2(NM_001099274.3):c.450_451insATCAG (p.L151Ifs*26) - GMPR2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2933C>G r.(=) p.(=) Unknown - likely benign g.24710917C>G g.24241711C>G TINF2(NM_012461.2):c.363G>C (p.L121=) - GMPR2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2981C>T r.(=) p.(=) Unknown - likely benign g.24710965C>T g.24241759C>T TINF2(NM_012461.2):c.315G>A (p.R105=) - GMPR2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3223G>C r.(=) p.(=) Unknown - likely benign g.24711207G>C g.24242001G>C TINF2(NM_012461.2):c.193-7C>G - GMPR2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3481C>G r.(=) p.(=) Unknown - benign g.24711465C>G g.24242259C>G TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3481C>G r.(=) p.(=) Unknown - likely benign g.24711465C>G g.24242259C>G TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3481C>G r.(=) p.(=) Unknown - likely benign g.24711465C>G - TINF2(NM_012461.2):c.74G>C (p.G25A), TINF2(NM_012461.3):c.74G>C (p.G25A) - TINF2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3517C>A r.(=) p.(=) Unknown - VUS g.24711501C>A - TINF2(NM_001099274.3):c.38G>T (p.R13L) - GMPR2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3527C>A r.(=) p.(=) Unknown - VUS g.24711511C>A g.24242305C>A TINF2(NM_012461.2):c.28G>T (p.A10S) - TINF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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