Unique variants in gene TSPEAR

Information The variants shown are described using the NM_144991.2 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.44C>T likely benign r.(?) p.(Ala15Val) g.46131386G>A - TSPEAR(NM_144991.2):c.44C>T (p.A15V) - TSPEAR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.51C>T benign r.(?) p.(=) g.46131379G>A - TSPEAR(NM_144991.2):c.51C>T (p.G17=) - TSPEAR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.57C>T likely benign r.(?) p.(=) g.46131373G>A - TSPEAR(NM_144991.2):c.57C>T (p.G19=) - TSPEAR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.82+64497G>A VUS r.(=) p.(=) g.46066851C>T - KRTAP10-11(NM_198692.2):c.476C>T (p.S159F) - TSPEAR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.83-59839_83-59825del VUS r.(=) p.(=) g.46047723_46047737del - KRTAP10-9(NM_198690.2):c.626_640del (p.?) - TSPEAR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.83-59316C>T VUS r.(=) p.(=) g.46047205G>A - KRTAP10-9(NM_198690.2):c.117G>A (p.(=)) - TSPEAR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.83-45718G>C - - p.(=) g.46033607C>G - - - TSPEAR_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.83-24475T>C VUS r.(=) p.(=) g.46012364A>G - KRTAP10-6(NM_198688.2):c.2T>C (p.(Met1?)) - TSPEAR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.83-24474G>A VUS r.(=) p.(=) g.46012363C>T - KRTAP10-6(NM_198688.2):c.3G>A (p.(Met1?)) - TSPEAR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.151G>A likely benign r.(?) p.(Val51Ile) g.45987821C>T - TSPEAR(NM_144991.2):c.151G>A (p.V51I) - TSPEAR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.343G>A likely benign r.(?) p.(Asp115Asn) g.45953767C>T - TSPEAR(NM_001272037.1):c.139G>A (p.D47N) - TSPEAR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.364C>T VUS r.(?) p.(Arg122Trp) g.45953746G>A - TSPEAR(NM_001272037.1):c.160C>T (p.R54W) - TSPEAR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.589C>T pathogenic r.(?) p.(Arg197*) g.45950970G>A - TSPEAR(NM_001272037.1):c.385C>T (p.R129*) - TSPEAR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.614G>C VUS r.(?) p.(Arg205Thr) g.45950945C>G - TSPEAR(NM_001272037.1):c.410G>C (p.R137T) - TSPEAR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.633+2C>T likely pathogenic r.spl? p.? g.45950924G>A - TSPEAR(NM_144991.2):c.633+2C>T - TSPEAR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.668C>T VUS r.(?) p.(Ser223Leu) g.45949803G>A - TSPEAR(NM_001272037.1):c.464C>T (p.S155L) - TSPEAR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.673G>A VUS r.(?) p.(Ala225Thr) g.45949798C>T - TSPEAR(NM_001272037.1):c.469G>A (p.A157T) - TSPEAR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.714G>A likely benign r.(?) p.(=) g.45949757C>T - TSPEAR(NM_001272037.1):c.510G>A (p.A170=) - TSPEAR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.872G>A VUS r.(?) p.(Arg291Gln) g.45948385C>T - TSPEAR(NM_001272037.1):c.668G>A (p.R223Q) - TSPEAR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1017G>A likely benign r.(?) p.(=) g.45947307C>T - TSPEAR(NM_001272037.1):c.813G>A (p.G271=) - TSPEAR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1273C>T pathogenic r.(?) p.(Arg425*) g.45945599G>A - TSPEAR(NM_001272037.1):c.1069C>T (p.R357*) - TSPEAR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1329C>A VUS r.(?) p.(His443Gln) g.45945543G>T - TSPEAR(NM_144991.2):c.1329C>A (p.H443Q) - TSPEAR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1335A>G likely benign r.(?) p.(=) g.45945537T>C - TSPEAR(NM_001272037.1):c.1131A>G (p.E377=) - TSPEAR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1515G>A likely benign r.(?) p.(=) g.45941817C>T - TSPEAR(NM_001272037.1):c.1311G>A (p.S437=) - TSPEAR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1566+5G>A likely benign r.spl? p.? g.45941761C>T - TSPEAR(NM_001272037.1):c.1362+5G>A - TSPEAR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1746C>T likely benign r.(?) p.(=) g.45929090G>A - TSPEAR(NM_001272037.1):c.1542C>T (p.L514=) - TSPEAR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1755-7C>T likely benign r.(=) p.(=) g.45924771G>A - TSPEAR(NM_001272037.1):c.1551-7C>T - TSPEAR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1879G>A VUS r.(?) p.(Val627Met) g.45919797C>T - TSPEAR(NM_144991.2):c.1879G>A (p.(Val627Met)) - TSPEAR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1915G>A VUS r.(?) p.(Asp639Asn) g.45919761C>T - TSPEAR(NM_001272037.1):c.1711G>A (p.D571N) - TSPEAR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
Legend