Unique variants in gene GALNT12


Information The variants shown are described using the NM_024642.4 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.18G>T likely benign r.(?) p.(=) g.101569998G>T - GALNT12(NM_024642.4):c.18G>T (p.=) - GALNT12_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 1 c.237C>T VUS r.(?) p.(=) g.101570217C>T - - - GALNT12_000012 - - - - Germline - - - - - Laura Valle
+?/. 1 - c.303C>G likely pathogenic r.(?) p.(His101Gln) g.101570283C>G - - - GALNT12_000018 - - - - Germline - - - - - Daniel Evans
?/. 1 1 c.356A>T VUS r.(?) p.(Glu119Val) g.101570336A>T - - - GALNT12_000010 - - - rs10987769 Germline - 0.018 - - - Michael Woods
?/. 1 2 c.399T>C VUS r.(?) p.(=) g.101585565T>C - - - GALNT12_000014 - - - - Germline - 1/206 - - - Laura Valle
+/. 1 - c.425T>C benign r.(?) p.(Ile142Thr) g.101585591T>C - - - GALNT12_000019 variant not associated with phenotype - - - Germline - - - - - Daniel Evans
-?/. 1 - c.715G>C likely benign r.(?) p.(Glu239Gln) g.101589207G>C - - - GALNT12_000020 - - - - Germline - - - - - Daniel Evans
?/. 1 - c.732-8G>T VUS r.(=) p.(=) g.101594046G>T - - - GALNT12_000030 - - - - Germline - - - - - Daniel Evans
?/., -/. 7 4 c.781G>A VUS, benign r.(?) p.(Asp261Asn) g.101594103G>A g.98831821G>A GALNT12(NM_024642.4):c.781G>A (p.D261N) - GALNT12_000004 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - rs41306504 Germline, CLASSIFICATION record - 0.015, 2/206 - - - Michael Woods, Laura Valle, Melissa DeRycke, VKGL-NL
-?/. 1 - c.857C>T likely benign r.(?) p.(Thr286Met) g.101594179C>T - - - GALNT12_000024 - - - - Germline - - - - - Daniel Evans
+?/., ?/. 2 - c.868G>T likely pathogenic, VUS r.(?) p.(Val290Phe) g.101594190G>T g.98831908G>T - - GALNT12_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Daniel Evans, Melissa DeRycke
+?/. 1 - c.889C>T likely pathogenic r.(?) p.(Arg297Trp) g.101594211C>T - - - GALNT12_000003 - - - - Germline - - - - - Daniel Evans
+/., -?/., ?/. 13 4 c.907G>A pathogenic, likely benign, VUS r.(?) p.(Asp303Asn) g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated Thibodeau lab (Mayo Clinic) - - Germline - - - - - Michael Woods, Daniel Evans, Melissa DeRycke
-?/. 1 5i c.1036-4G>A likely benign r.(?) p.(=) g.101599250G>A - - - GALNT12_000011 - - - - Germline - 1/206 - - - Laura Valle
?/. 1 - c.1066C>T VUS r.(?) p.(His356Tyr) g.101599284C>T g.98837002C>T - - GALNT12_000025 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 6 c.1187A>G pathogenic r.(?) p.(Tyr396Cys) g.101599405A>G - - - GALNT12_000002 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - - - Michael Woods
?/. 1 - c.1201C>T VUS r.(?) p.(Arg401Cys) g.101599419C>T g.98837137C>T - - GALNT12_000026 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.1301C>T VUS r.(?) p.(Pro434Leu) g.101602372C>T g.98840090C>T - - GALNT12_000027 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
-?/. 1 - c.1392C>G likely benign r.(?) p.(=) g.101606425C>G - GALNT12(NM_024642.4):c.1392C>G (p.=) - GALNT12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 8 c.1392C>T VUS r.(?) p.(=) g.101606425C>T - - - GALNT12_000013 - - - rs35616709 Germline - 1/206 - - - Laura Valle
?/. 1 - c.1489C>G VUS r.(?) p.(Arg497Gly) g.101608289C>G g.98846007C>G - - GALNT12_000028 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.1493A>G VUS r.(?) p.(Tyr498Cys) g.101608293A>G g.98846011A>G - - GALNT12_000029 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/., -?/. 3 9 c.1497C>T VUS, likely benign r.(?) p.(=) g.101608297C>T - GALNT12(NM_024642.4):c.1497C>T (p.=) - GALNT12_000005 VKGL data sharing initiative Nederland - - rs35632007 Germline, CLASSIFICATION record - 0.008, 1/206 - - - Michael Woods, Laura Valle, VKGL-NL
?/. 1 9i c.1605+4G>A VUS r.spl? p.? g.101608409G>A - - - GALNT12_000015 - - - rs79574929 Germline - 1/206 - - - Laura Valle
?/. 1 - c.1676T>G VUS r.(?) p.(Phe559Cys) g.101611304T>G g.98849022T>G - - GALNT12_000021 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 10 c.1707G>C VUS r.(?) p.(=) g.101611335G>C - - - GALNT12_000006 - - - rs2273846 Germline - 0.043 - - - Michael Woods
?/. 1 - c.1724T>C VUS r.(?) p.(Phe575Ser) g.101611352T>C g.98849070T>C - - GALNT12_000022 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 10 c.1734G>A VUS r.(?) p.(=) g.101611362G>A - - - GALNT12_000007 - - - - Germline - 0.016 - - - Michael Woods
?/. 1 10 c.*171A>G VUS r.(?) p.(=) g.101611545A>G - - - GALNT12_000008 - - - - Germline - 0.031 - - - Michael Woods
?/. 1 10 c.*421G>A VUS r.(?) p.(=) g.101611795G>A - - - GALNT12_000009 - - - rs2273848 Germline - 0.088 - - - Michael Woods
?/. 1 10i c.*499T>A VUS r.(?) p.(=) g.101611873T>A - - - GALNT12_000016 - - - - Germline - 1/206 - - - Laura Valle
?/. 1 10i c.*547dup VUS r.(?) p.(=) g.101611921dup - - - GALNT12_000017 - - - - Germline - 1/206 - - - Laura Valle
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