Full data view for gene GALT

Information The variants shown are described using the NM_000155.3 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
Legend   How to query  

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.-119_-116del r.(?) p.(=) Unknown - pathogenic g.34646583_34646586del - - - GALT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.13G>A r.(?) p.(Gly5Arg) Unknown - VUS g.34646714G>A g.34646717G>A GALT(NM_000155.3):c.13G>A (p.(Gly5Arg)) - GALT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.83-5C>T r.spl? p.? Unknown - likely benign g.34647081C>T g.34647084C>T GALT(NM_000155.3):c.83-5C>T - GALT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196C>T r.(?) p.(Pro66Ser) Unknown - VUS g.34647199C>T g.34647202C>T GALT(NM_000155.3):c.196C>T (p.P66S) - CCL27_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.199C>T r.(?) p.(Arg67Cys) Parent #1 - pathogenic g.34647202C>T g.34647205C>T - - GALT_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033658 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.200G>A r.(?) p.(Arg67His) Both (homozygous) - pathogenic (recessive) g.34647203G>A g.34647206G>A - - GALT_000027 - PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 13DG2254 PubMed: Patel 2017 simplex case - - - - - - - - 1 Johan den Dunnen
+?/. - c.292G>C r.(?) p.(Asp98His) Both (homozygous) - likely pathogenic g.34647528G>C g.34647531G>C GALT exon 3, c.292G>C, D98H, chr9:34637528G>C (hg18) CM910169 - GALT_000025 causative, homozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01210 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
+/. 4 c.347T>C r.(?) p.Leu116Pro Both (homozygous) - pathogenic (recessive) g.34647672T>C g.34647675T>C - - GALT_000014 - PubMed: Estrada, Canson and Silao 2013 - - Germline - - - - - DNA SEQ - - GALAC1 Patient 3 PubMed: Estrada, Canson and Silao 2013 - M - Philippines - - - - - 1 Daffodil Canson
-/. - c.378-27G>C r.(=) p.(=) Unknown - benign g.34647802G>C - - - CCL27_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.379A>G r.(?) p.(Lys127Glu) Unknown - pathogenic g.34647830A>G - GALT(NM_000155.4):c.379A>G (p.K127E) - CCL27_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.404C>G r.(?) p.(Ser135Trp) Unknown - likely pathogenic g.34647855C>G g.34647858C>G GALT(NM_000155.3):c.404C>G (p.S135W) - GALT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.404C>G r.(?) p.(Ser135Trp) Unknown - likely pathogenic g.34647855C>G g.34647858C>G GALT(NM_000155.3):c.404C>G (p.S135W) - GALT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.404C>T r.(?) p.(Ser135Leu) Both (homozygous) ACMG pathogenic g.34647855C>T g.34647858C>T - - GALT_000005 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - GALAC1 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.404C>T r.(?) p.(Ser135Leu) Unknown - pathogenic g.34647855C>T - GALT(NM_000155.3):c.404C>T (p.S135L) - GALT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.404C>T r.(?) p.(Ser135Leu) Both (homozygous) ACMG likely pathogenic (recessive) g.34647855C>T g.34647858C>T - - GALT_000005 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M280 PubMed: Hu 2019 family, 2 affected individuals - - Iran Persia - - - - 2 Johan den Dunnen
+/. - c.413C>T r.(?) p.(Thr138Met) Unknown - pathogenic g.34647864C>T - - - CCL27_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.502G>T r.(?) p.Val168Leu Maternal (confirmed) - pathogenic (recessive) g.34647953G>T g.34647956G>T - - GALT_000015 - PubMed: Estrada, Canson and Silao 2013 - - Germline - - - - - DNA SEQ - - GALAC1 Patient 1 PubMed: Estrada, Canson and Silao 2013 - M - Philippines - - - - - 1 Daffodil Canson
+/. - c.502G>T r.(?) p.(Val168Leu) Both (homozygous) - pathogenic (recessive) g.34647953G>T g.34647956G>T - - GALT_000015 no detectable GALT-activity PubMed: Estrada 2013 - - Germline - - - - - DNA SEQ - - GALAC1 24045215-Pat4 PubMed: Estrada 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Philippines - 00y01m - - - 1 Johan den Dunnen
+/. 5 c.502G>T r.(?) p.(Val168Leu) Both (homozygous) - pathogenic g.34647953G>T g.34647956G>T - - GALT_000015 - PubMed: Estrada, Canson and Silao 2013 ClinVar-25189 - Germline - - - - - DNA SEQ - - GALAC1 Patient 4 PubMed: Estrada, Canson and Silao 2013 - F - Philippines - - - - - 1 Daffodil Canson
-/. - c.507+62G>A r.(=) p.(=) Unknown - benign g.34648020G>A - - - CCL27_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508-24G>A r.(=) p.(=) Unknown - benign g.34648088G>A g.34648091G>A GALT(NM_000155.4):c.508-24G>A - GALT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.508-24G>A r.(=) p.(=) Unknown - benign g.34648088G>A g.34648091G>A GALT(NM_000155.4):c.508-24G>A - GALT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.510C>A r.(?) p.(Ile170=) Unknown - benign g.34648114C>A g.34648117C>A GALT(NM_000155.3):c.510C>A (p.I170=), GALT(NM_000155.4):c.510C>A (p.I170=) - CCL27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.510C>A r.(?) p.(Ile170=) Unknown - benign g.34648114C>A g.34648117C>A GALT(NM_000155.3):c.510C>A (p.I170=), GALT(NM_000155.4):c.510C>A (p.I170=) - CCL27_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533T>G r.(?) p.Met178Arg Paternal (inferred) - pathogenic (recessive) g.34648137T>G g.34648140T>G - - GALT_000016 - PubMed: Estrada, Canson and Silao 2013 - - Germline - - - - - DNA SEQ - - GALAC1 Patient 1 PubMed: Estrada, Canson and Silao 2013 - M - Philippines - - - - - 1 Daffodil Canson
+/. - c.553C>T r.(?) p.(Pro185Ser) Unknown - pathogenic g.34648157C>T - GALT(NM_000155.4):c.553C>T (p.(Pro185Ser)) - CCL27_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - VUS g.34648167A>G g.34648170A>G - - GALT_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - VUS g.34648167A>G g.34648170A>G GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R) - GALT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - pathogenic g.34648167A>G g.34648170A>G GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R) - GALT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - pathogenic g.34648167A>G g.34648170A>G GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R) - GALT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.563A>G r.(?) p.(Gln188Arg) Parent #1 - pathogenic g.34648167A>G g.34648170A>G - - GALT_000002 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75391579 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - pathogenic g.34648167A>G - GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R) - GALT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.563A>G r.(?) p.(Gln188Arg) Both (homozygous) - likely pathogenic (recessive) g.34648167A>G g.34648170A>G - - GALT_000002 ACMG PVS1, PS3, PP5, PM1, PM2, PP2, PP3, PP4 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat9 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - 1 Johan den Dunnen
+?/. - c.563A>G r.(?) p.(Gln188Arg) Both (homozygous) - likely pathogenic (recessive) g.34648167A>G g.34648170A>G - - GALT_000002 ACMG PS3, PS4mod, PM2, PP3 PubMed: Kessel 2021 VCV000003614.17 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT ? PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+?/. - c.563A>G r.(?) p.(Gln188Arg) Both (homozygous) - likely pathogenic (recessive) g.34648167A>G g.34648170A>G - - GALT_000002 ACMG PS3, PS4mod, PM2, PP3 PubMed: Kessel 2021 VCV000003614.17 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT ? PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
+/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - pathogenic g.34648167A>G - GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R) - GALT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567A>G r.(?) p.(Val189=) Unknown - likely benign g.34648333A>G - GALT(NM_000155.3):c.567A>G (p.V189=) - CCL27_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.584T>C r.(?) p.(Leu195Pro) Unknown - pathogenic g.34648350T>C - GALT(NM_000155.3):c.584T>C (p.(Leu195Pro)), GALT(NM_000155.4):c.584T>C (p.L195P) - CCL27_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.584T>C r.(?) p.(Leu195Pro) Unknown - pathogenic g.34648350T>C - GALT(NM_000155.3):c.584T>C (p.(Leu195Pro)), GALT(NM_000155.4):c.584T>C (p.L195P) - CCL27_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.602G>A r.(?) p.(Arg201His) Parent #1 - likely pathogenic g.34648368G>A g.34648371G>A - - GALT_000020 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033735 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.611G>A r.(?) p.(Arg204Gln) Unknown - VUS g.34648377G>A - GALT(NM_000155.4):c.611G>A (p.(Arg204Gln)) - CCL27_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.626A>G r.(?) p.(Tyr209Cys) Parent #1 - likely pathogenic g.34648392A>G g.34648395A>G - - GALT_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033744 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.632G>C r.(?) p.(Ser211Thr) Unknown - VUS g.34648398G>C - GALT(NM_000155.4):c.632G>C (p.(Ser211Thr)) - CCL27_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.34648418C>T g.34648421C>T GALT(NM_000155.4):c.652C>T (p.L218=) - GALT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.34648418C>T g.34648421C>T GALT(NM_000155.4):c.652C>T (p.L218=) - GALT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.687G>T r.(?) p.(Lys229Asn) Unknown - pathogenic g.34648453G>T - - - CCL27_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.688-4C>T r.spl? p.? Unknown - likely benign g.34648755C>T g.34648758C>T GALT(NM_000155.3):c.688-4C>T - GALT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772C>T r.(?) p.(Arg258Cys) Parent #1 - VUS g.34648843C>T g.34648846C>T - - GALT_000022 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs368166217 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.788G>A r.(?) p.(Arg263Gln) Unknown - VUS g.34648859G>A - - - CCL27_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.821-23T>G r.[821_904del,855-904del,820_821ins[820+1_821-24;g;821-22_821-1],[820_821ins[820+1_821-24;g;821-22_821-1];855_904del]] p.[Asp274_His301del,Ala303Serfs*49,Arp274Glyfs*6,Arp274Glyfs*6] Both (homozygous) - likely pathogenic (recessive) g.34648972T>G g.34648975T>G - - GALT_000026 exon skipping, cryptic splice donor, intron retention PubMed: Bournazos 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA whole blood trio WES ? A220 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
?/. - c.821-7A>G r.(=) p.(=) Unknown - VUS g.34648988A>G - GALT(NM_000155.3):c.821-7A>G - CCL27_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.821-3C>T r.spl? p.? Unknown - likely benign g.34648992C>T g.34648995C>T GALT(NM_000155.3):c.821-3C>T (p.?) - CCL27_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.855G>T r.(?) p.(Lys285Asn) Unknown - VUS g.34649029G>T g.34649032G>T - - GALT_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.855G>T r.(?) p.(Lys285Asn) Unknown - pathogenic g.34649029G>T g.34649032G>T GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N) - GALT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.855G>T r.(?) p.(Lys285Asn) Unknown - pathogenic g.34649029G>T - GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N) - GALT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.855G>T r.(?) p.(Lys285Asn) Unknown - pathogenic g.34649029G>T - GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N) - GALT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.855G>T r.(?) p.(Lys285Asn) Unknown - pathogenic g.34649029G>T - GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N) - GALT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Ser293=) Unknown - benign g.34649053C>T g.34649056C>T GALT(NM_000155.3):c.879C>T (p.S293=) - CCL27_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940A>G r.(?) p.(Asn314Asp) Unknown - VUS g.34649442A>G g.34649445A>G - - GALT_000004 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.940A>G r.(?) p.(Asn314Asp) Unknown - VUS g.34649442A>G g.34649445A>G GALT(NM_000155.4):c.940A>G (p.N314D) - GALT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940A>G r.(?) p.(Asn314Asp) Unknown - VUS g.34649442A>G g.34649445A>G GALT(NM_000155.4):c.940A>G (p.N314D) - GALT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940A>G r.(?) p.(Asn314Asp) Unknown - VUS g.34649442A>G g.34649445A>G GALT(NM_000155.4):c.940A>G (p.N314D) - GALT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.947G>A r.(?) p.(Trp316*) Parent #1 - likely pathogenic g.34649449G>A g.34649452G>A - - GALT_000023 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033790 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.947G>A r.(?) p.(Trp316*) Unknown - likely pathogenic g.34649449G>A - - - GALT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.957C>T r.(?) p.(=) Unknown - VUS g.34649459C>T - GALT(NM_000155.4):c.957C>T (p.H319=) - CCL27_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982C>T r.(?) p.(Arg328Cys) Unknown - VUS g.34649484C>T g.34649487C>T - - CCL27_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.983G>A r.(?) p.(Arg328His) Parent #1 - likely pathogenic g.34649485G>A g.34649488G>A - - GALT_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111033802 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.998G>A r.(?) p.(Arg333Gln) Unknown - VUS g.34649500G>A - GALT(NM_000155.3):c.998G>A (p.R333Q) - CCL27_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1018G>T r.(?) p.(Glu340*) Unknown - pathogenic g.34649520G>T - - - CCL27_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1034C>A r.(?) p.(Ala345Asp) Parent #1 - pathogenic (recessive) g.34649536C>A g.34649539C>A - - GALT_000017 unknown variant 2nd allele; no detectable GALT activity PubMed: Estrada 2013 - - Germline - - - - - DNA SEQ - - GALAC1 24045215-Pat2 PubMed: Estrada 2013 - M - Philippines - - - - gal-free diet 1 Johan den Dunnen
+?/. 10 c.1034C>A r.(?) p.(Ala345Asp) Paternal (inferred) - likely pathogenic g.34649536C>A g.34649539C>A - - GALT_000017 - PubMed: Estrada, Canson and Silao 2013 ClinVar-25321 - Germline - - - - - DNA SEQ - - GALAC1 Patient 2 PubMed: Estrada, Canson and Silao 2013 - M - Philippines - - - - - 1 Daffodil Canson
+?/. - c.1042G>A r.(?) p.(Asp348Asn) Unknown - likely pathogenic g.34649544G>A g.34649547G>A GALT(NM_000155.3):c.1042G>A (p.D348N) - CCL27_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1060-79_1060-71dup r.(=) p.(=) Unknown - benign g.34650287_34650295dup g.34650290_34650298dup GALT(NM_000155.4):c.1060-78_1060-70dupAAAAAAAAA - CCL27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1060-78_1060-71dup r.(=) p.(=) Unknown - benign g.34650288_34650295dup g.34650291_34650298dup GALT(NM_000155.4):c.1060-77_1060-70dupAAAAAAAA - CCL27_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060-10C>T r.(=) p.(=) Unknown - likely benign g.34650356C>T g.34650359C>T GALT(NM_000155.3):c.1060-10C>T - GALT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1132A>G r.(?) p.(Ile378Val) Unknown - likely pathogenic g.34650438A>G - GALT(NM_000155.3):c.1132A>G (p.I378V) - CCL27_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1140A>C r.(?) p.(*380Cysext*49) Unknown - likely pathogenic g.34650446A>C - GALT(NM_000155.3):c.1140A>C (p.*380Cext*49), GALT(NM_000155.4):c.1140A>C (p.*380Cext*49) - CCL27_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1140A>C r.(?) p.(*380Cysext*49) Unknown - pathogenic g.34650446A>C - GALT(NM_000155.3):c.1140A>C (p.*380Cext*49), GALT(NM_000155.4):c.1140A>C (p.*380Cext*49) - CCL27_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4782G>T r.(=) p.(=) Unknown - likely benign g.34655228G>T g.34655231G>T IL11RA(NM_001142784.2):c.14G>T (p.(Cys5Phe)) - CCL27_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.