All variants in the GALNT12 gene


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

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. - c.5G>A r.(?) p.(Trp2Ter) - VUS g.101569985G>A g.98807703G>A - - GALNT12_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.18G>T r.(?) p.(Ala6=) - likely benign g.101569998G>T g.98807716G>T GALNT12(NM_024642.4):c.18G>T (p.A6=) - GALNT12_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 1 c.237C>T r.(?) p.(=) - VUS g.101570217C>T g.98807935C>T - - GALNT12_000012 - - - - Germline - - - 0 - Laura Valle
+?/. - c.303C>G r.(?) p.(His101Gln) - likely pathogenic g.101570283C>G g.98808001C>G - - GALNT12_000018 - - - - Germline - - - 0 - Daniel Evans
?/. 1 c.356A>T r.(?) p.(Glu119Val) - VUS g.101570336A>T g.98808054A>T - - GALNT12_000010 - - - rs10987769 Germline - 0.018 - 0 - Michael Woods
-/. - c.356A>T r.(?) p.(Glu119Val) - benign g.101570336A>T g.98808054A>T - - GALNT12_000010 153 heterozygous; Clinindb (India) Faruq 2020, submtted - rs1137654 Germline - 153/2792 individuals - 0 - Mohammed Faruq
-/. - c.356A>T r.(?) p.(Glu119Val) - benign g.101570336A>T g.98808054A>T - - GALNT12_000010 8 homozygous; Clinindb (India) Faruq 2020, submtted - rs1137654 Germline - 8/2792 individuals - 0 - Mohammed Faruq
?/. 2 c.399T>C r.(?) p.(=) - VUS g.101585565T>C g.98823283T>C - - GALNT12_000014 - - - - Germline - 1/206 - 0 - Laura Valle
+/. - c.425T>C r.(?) p.(Ile142Thr) - benign g.101585591T>C g.98823309T>C - - GALNT12_000019 variant not associated with phenotype - - - Germline - - - 0 - Daniel Evans
-?/. - c.715G>C r.(?) p.(Glu239Gln) - likely benign g.101589207G>C g.98826925G>C - - GALNT12_000020 - - - - Germline - - - 0 - Daniel Evans
?/. - c.719C>T r.(?) p.(Pro240Leu) - VUS g.101589211C>T g.98826929C>T - - GALNT12_000035 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs59362219 Germline - 3/2795 individuals - 0 - Mohammed Faruq
?/. - c.732-8G>T r.(=) p.(=) - VUS g.101594046G>T g.98831764G>T - - GALNT12_000030 - - - - Germline - - - 0 - Daniel Evans
?/. - c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-/. - c.781G>A r.(?) p.(Asp261Asn) - benign g.101594103G>A g.98831821G>A GALNT12(NM_024642.4):c.781G>A (p.D261N) - GALNT12_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 4 c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 0.015 - 0 - Michael Woods
?/. 4 c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 2/206 - 0 - Laura Valle
?/. 4 c.781G>A r.(?) p.(Asp261Asn) - VUS g.101594103G>A g.98831821G>A - - GALNT12_000004 - - - rs41306504 Germline - 2/206 - 0 - Laura Valle
-/. - c.781G>A r.(?) p.(Asp261Asn) - benign g.101594103G>A g.98831821G>A - - GALNT12_000004 68 heterozygous; Clinindb (India) Faruq 2020, submtted - rs41306504 Germline - 68/2795 individuals - 0 - Mohammed Faruq
-/. - c.781G>A r.(?) p.(Asp261Asn) - benign g.101594103G>A g.98831821G>A - - GALNT12_000004 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs41306504 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.857C>T r.(?) p.(Thr286Met) - likely benign g.101594179C>T g.98831897C>T - - GALNT12_000024 - - - - Germline - - - 0 - Daniel Evans
?/. - c.868G>T r.(?) p.(Val290Phe) - VUS g.101594190G>T g.98831908G>T - - GALNT12_000023 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+?/. - c.868G>T r.(?) p.(Val290Phe) - likely pathogenic g.101594190G>T g.98831908G>T - - GALNT12_000023 - - - - Germline - - - 0 - Daniel Evans
+?/. - c.889C>T r.(?) p.(Arg297Trp) - likely pathogenic g.101594211C>T g.98831929C>T - - GALNT12_000003 - - - - Germline - - - 0 - Daniel Evans
-/. - c.897A>G r.(?) p.(Gln299=) - benign g.101594219A>G g.98831937A>G GALNT12(NM_024642.4):c.897A>G (p.=) - GALNT12_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.907G>A r.(?) p.(Asp303Asn) - VUS g.101594229G>A g.98831947G>A - - GALNT12_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.907G>A r.(?) p.(Asp303Asn) - VUS g.101594229G>A g.98831947G>A - - GALNT12_000001 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
+/. 4 c.907G>A r.(?) p.(Asp303Asn) - pathogenic g.101594229G>A g.98831947G>A - - GALNT12_000001 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
-?/. - c.907G>A r.(?) p.(Asp303Asn) - likely benign g.101594229G>A g.98831947G>A - - GALNT12_000001 - - - - Germline - - - 0 - Daniel Evans
-?/. 5i c.1036-4G>A r.(?) p.(=) - likely benign g.101599250G>A g.98836968G>A - - GALNT12_000011 - - - - Germline - 1/206 - 0 - Laura Valle
?/. - c.1066C>T r.(?) p.(His356Tyr) - VUS g.101599284C>T g.98837002C>T - - GALNT12_000025 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
+/. 6 c.1187A>G r.(?) p.(Tyr396Cys) - pathogenic g.101599405A>G g.98837123A>G - - GALNT12_000002 polyphen:probably damaging; SIFT: Not tolerated - - - Germline - - - 0 - Michael Woods
?/. - c.1201C>T r.(?) p.(Arg401Cys) - VUS g.101599419C>T g.98837137C>T - - GALNT12_000026 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.1301C>T r.(?) p.(Pro434Leu) - VUS g.101602372C>T g.98840090C>T - - GALNT12_000027 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.1392C>G r.(?) p.(Pro464=) - likely benign g.101606425C>G g.98844143C>G GALNT12(NM_024642.4):c.1392C>G (p.P464=) - GALNT12_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 8 c.1392C>T r.(?) p.(=) - VUS g.101606425C>T g.98844143C>T - - GALNT12_000013 - - - rs35616709 Germline - 1/206 - 0 - Laura Valle
?/. - c.1489C>G r.(?) p.(Arg497Gly) - VUS g.101608289C>G g.98846007C>G - - GALNT12_000028 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. - c.1493A>G r.(?) p.(Tyr498Cys) - VUS g.101608293A>G g.98846011A>G - - GALNT12_000029 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
-?/. - c.1497C>T r.(?) p.(Asn499=) - likely benign g.101608297C>T g.98846015C>T GALNT12(NM_024642.4):c.1497C>T (p.N499=) - GALNT12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. 9 c.1497C>T r.(?) p.(=) - VUS g.101608297C>T g.98846015C>T - - GALNT12_000005 - - - rs35632007 Germline - 0.008 - 0 - Michael Woods
?/. 9 c.1497C>T r.(?) p.(=) - VUS g.101608297C>T g.98846015C>T - - GALNT12_000005 - - - rs35632007 Germline - 1/206 - 0 - Laura Valle
?/. 9i c.1605+4G>A r.spl? p.? - VUS g.101608409G>A g.98846127G>A - - GALNT12_000015 - - - rs79574929 Germline - 1/206 - 0 - Laura Valle
?/. - c.1676T>G r.(?) p.(Phe559Cys) - VUS g.101611304T>G g.98849022T>G - - GALNT12_000021 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. 10 c.1707G>C r.(?) p.(=) - VUS g.101611335G>C g.98849053G>C - - GALNT12_000006 - - - rs2273846 Germline - 0.043 - 0 - Michael Woods
?/. - c.1724T>C r.(?) p.(Phe575Ser) - VUS g.101611352T>C g.98849070T>C - - GALNT12_000022 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke
?/. 10 c.1734G>A r.(?) p.(=) - VUS g.101611362G>A g.98849080G>A - - GALNT12_000007 - - - - Germline - 0.016 - 0 - Michael Woods
?/. 10 c.*171A>G r.(?) p.(=) - VUS g.101611545A>G g.98849263A>G - - GALNT12_000008 - - - - Germline - 0.031 - 0 - Michael Woods
?/. 10 c.*421G>A r.(?) p.(=) - VUS g.101611795G>A g.98849513G>A - - GALNT12_000009 - - - rs2273848 Germline - 0.088 - 0 - Michael Woods
?/. 10i c.*499T>A r.(?) p.(=) - VUS g.101611873T>A g.98849591T>A - - GALNT12_000016 - - - - Germline - 1/206 - 0 - Laura Valle
?/. 10i c.*547dup r.(?) p.(=) - VUS g.101611921dup g.98849639dup - - GALNT12_000017 - - - - Germline - 1/206 - 0 - Laura Valle
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