Full data view for gene GALC

Information The variants shown are described using the NM_000153.3 transcript reference sequence.

215 entries on 3 pages. Showing entries 1 - 100.
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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.-327G>C r.(?) p.(=) Unknown - likely benign g.88459835C>G g.87993491C>G GALC(NM_001201402.2):c.9G>C (p.G3=) - GALC_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-327G>T r.(?) p.(=) Unknown - likely benign g.88459835C>A g.87993491C>A GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=)) - GALC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-327G>T r.(?) p.(=) Unknown - VUS g.88459835C>A g.87993491C>A GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=)) - GALC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-327G>T r.(?) p.(=) Unknown - likely benign g.88459835C>A - GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=)) - GALC_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-318T>C r.(?) p.(=) Unknown - likely benign g.88459826A>G g.87993482A>G GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=) - GALC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-318T>C r.(?) p.(=) Unknown - likely benign g.88459826A>G g.87993482A>G GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=) - GALC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-318T>C r.(?) p.(=) Unknown - likely benign g.88459826A>G - GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=) - GALC_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-287G>A r.(?) p.(=) Unknown - benign g.88459795C>T g.87993451C>T GALC(NM_001201402.2):c.49G>A (p.A17T) - GALC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-287G>A r.(?) p.(=) Unknown - benign g.88459795C>T - GALC(NM_001201402.2):c.49G>A (p.A17T) - GALC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-285G>A r.(?) p.(=) Unknown - likely benign g.88459793C>T g.87993449C>T GALC(NM_001201402.1):c.51G>A (p.A17=) - GALC_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-275A>G r.(?) p.(=) Unknown - likely benign g.88459783T>C g.87993439T>C GALC(NM_001201402.1):c.61A>G (p.(Ile21Val)) - GALC_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>G r.(?) p.(Ala14Gly) Unknown - likely benign g.88459468G>C g.87993124G>C GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G) - GALC_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>G r.(?) p.(Ala14Gly) Unknown - likely benign g.88459468G>C g.87993124G>C GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G) - GALC_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>G r.(?) p.(Ala14Gly) Unknown - likely benign g.88459468G>C - GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G) - GALC_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>C r.(?) p.(Ala14=) Unknown - benign g.88459467C>G g.87993123C>G GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=) - GALC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>C r.(?) p.(Ala14=) Unknown - benign g.88459467C>G g.87993123C>G GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=) - GALC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.42G>C r.(?) p.(Ala14=) Unknown - benign g.88459467C>G - GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=) - GALC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53C>T r.(?) p.(Thr18Ile) Unknown - VUS g.88459456G>A - GALC(NM_000153.4):c.53C>T (p.T18I) - GALC_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>T r.(?) p.(Ala20=) Unknown - likely benign g.88459449G>A g.87993105G>A GALC(NM_000153.3):c.60C>T (p.A20=), GALC(NM_000153.4):c.60C>T (p.A20=) - GALC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>T r.(?) p.(Ala20=) Unknown - likely benign g.88459449G>A - GALC(NM_000153.3):c.60C>T (p.A20=), GALC(NM_000153.4):c.60C>T (p.A20=) - GALC_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61G>C r.(?) p.(Ala21Pro) Unknown - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61G>C r.(?) p.(Ala21Pro) Unknown - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61G>C r.(?) p.(Ala21Pro) Unknown - benign g.88459448C>G g.87993104C>G GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.61G>C r.(?) p.(Ala21Pro) Unknown - benign g.88459448C>G - GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P) - GALC_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65G>A r.(?) p.(Gly22Asp) Unknown - likely benign g.88459444C>T g.87993100C>T GALC(NM_000153.3):c.65G>A (p.G22D) - GALC_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65G>C r.(?) p.(Gly22Ala) Unknown - VUS g.88459444C>G g.87993100C>G GALC(NM_000153.4):c.65G>C (p.G22A) - GALC_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75C>A r.(?) p.(Gly25=) Unknown - benign g.88459434G>T g.87993090G>T GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=) - GALC_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75C>A r.(?) p.(Gly25=) Unknown - benign g.88459434G>T g.87993090G>T GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=) - GALC_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75C>A r.(?) p.(Gly25=) Unknown - benign g.88459434G>T - GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=) - GALC_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82G>A r.(?) p.(Ala28Thr) Unknown - likely benign g.88459427C>T - GALC(NM_000153.3):c.82G>A (p.A28T) - GALC_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96G>T r.(?) p.(Leu32=) Unknown - benign g.88459413C>A g.87993069C>A GALC(NM_000153.3):c.96G>T (p.L32=) - GALC_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154G>A r.(?) p.(Gly52Ser) Unknown - VUS g.88459355C>T g.87993011C>T GALC(NM_000153.4):c.154G>A (p.G52S) - GALC_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158G>C r.(?) p.(Arg53Pro) Unknown - VUS g.88459351C>G g.87993007C>G GALC(NM_000153.4):c.158G>C (p.R53P) - GALC_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.165C>G r.(?) p.(Phe55Leu) Unknown - VUS g.88459344G>C - GALC(NM_000153.4):c.165C>G (p.F55L) - GALC_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.195+10A>G r.(=) p.(=) Unknown - benign g.88459304T>C g.87992960T>C GALC(NM_000153.3):c.195+10A>G - GALC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195+19G>A r.(=) p.(=) Unknown - likely benign g.88459295C>T g.87992951C>T GALC(NM_000153.4):c.195+19G>A - GALC_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-9T>C r.(=) p.(=) Unknown - likely benign g.88454876A>G g.87988532A>G GALC(NM_000153.3):c.196-9T>C, GALC(NM_001201402.2):c.118-9T>C - GALC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-9T>C r.(=) p.(=) Unknown - likely benign g.88454876A>G - GALC(NM_000153.3):c.196-9T>C, GALC(NM_001201402.2):c.118-9T>C - GALC_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-3dup r.spl? p.? Unknown - likely benign g.88454879dup g.87988535dup GALC(NM_000153.4):c.196-3dupT - GALC_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.196G>A r.(?) p.(Ala66Thr) Parent #1 ACMG likely pathogenic g.88454867C>T g.87988523C>T - - GALC_000057 - PubMed: TumienÄ— 2018 - - Germline - - - - - DNA SEQ-NG - WES ? 29286531-Pat26 PubMed: TumienÄ— 2018 - - - (Slovenia) - - - - - 1 Johan den Dunnen
+/. - c.264+1G>A r.spl? p.? Unknown - pathogenic g.88454798C>T g.87988454C>T GALC(NM_000153.3):c.264+1G>A - GALC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.264+10A>G r.(=) p.(=) Unknown - likely benign g.88454789T>C - GALC(NM_000153.3):c.264+10A>G - GALC_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.264+17T>G r.(=) p.(=) Unknown - benign g.88454782A>C g.87988438A>C GALC(NM_000153.4):c.264+17T>G - GALC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328+1G>T r.spl? p.? Unknown - likely pathogenic g.88454487C>A g.87988143C>A GALC(NM_000153.4):c.328+1G>T - GALC_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+6A>G r.(=) p.(=) Unknown - likely benign g.88454482T>C g.87988138T>C GALC(NM_000153.3):c.328+6A>G, GALC(NM_000153.4):c.328+6A>G - GALC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328+6A>G r.(=) p.(=) Unknown - likely benign g.88454482T>C g.87988138T>C GALC(NM_000153.3):c.328+6A>G, GALC(NM_000153.4):c.328+6A>G - GALC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328+19T>A r.(=) p.(=) Unknown - benign g.88454469A>T g.87988125A>T GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A - GALC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328+19T>A r.(=) p.(=) Unknown - benign g.88454469A>T g.87988125A>T GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A - GALC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328+19T>A r.(=) p.(=) Unknown - benign g.88454469A>T - GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A - GALC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-10_329-8del r.(=) p.(=) Unknown - likely benign g.88452957_88452959del g.87986613_87986615del GALC(NM_000153.3):c.329-10_329-8delCTC, GALC(NM_000153.4):c.329-10_329-8delCTC - GALC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329-10_329-8del r.(=) p.(=) Unknown - likely benign g.88452957_88452959del g.87986613_87986615del GALC(NM_000153.3):c.329-10_329-8delCTC, GALC(NM_000153.4):c.329-10_329-8delCTC - GALC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>T r.(?) p.(Asp110=) Unknown - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>T r.(?) p.(Asp110=) Unknown - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>T r.(?) p.(Asp110=) Unknown - benign g.88452945G>A g.87986601G>A GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>T r.(=) p.(=) Parent #1 - likely benign g.88452945G>A g.87986601G>A - - GALC_000039 95 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11552556 Germline - 95/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 95 Mohammed Faruq
-?/. - c.330C>T r.(=) p.(=) Both (homozygous) - likely benign g.88452945G>A g.87986601G>A - - GALC_000039 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11552556 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.330C>T r.(?) p.(Asp110=) Unknown - benign g.88452945G>A - GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>T r.(?) p.(Asp110=) Unknown - benign g.88452945G>A - GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=) - GALC_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.334A>G r.(?) p.(Thr112Ala) Both (homozygous) - pathogenic g.88452941T>C g.87986597T>C - - GALC_000004 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - - CORTRD1, Krabbe - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala)) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala)) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala)) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C g.87986597T>C GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala)) - GALC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.334A>G r.(?) p.(Thr112Ala) Parent #1 - VUS g.88452941T>C g.87986597T>C - - GALC_000004 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147313927 Germline - 7/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C - NM_000153.4:c.334A>G - GALC_000004 - Pennings et al. 2022, in progress - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood WES Healthy/Control AR4 Pennings et al. 2022, in progress - F - Netherlands - - - - - 1 Maartje Pennings
?/. - c.334A>G r.(?) p.(Thr112Ala) Unknown - VUS g.88452941T>C - NM_000153.4:c.334A>G - GALC_000004 - Pennings et al. 2022, in progress - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG blood WES Healthy/Control AR5 Pennings et al. 2022, in progress - M - Netherlands - - - - - 1 Maartje Pennings
+?/. - c.334A>G r.(?) p.(Thr112Ala) Both (homozygous) ACMG likely pathogenic g.88452941T>C g.87986597T>C GALC, NM_000153.3, c.334A>G, p.Thr112Ala - GALC_000004 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 1 PubMed: Alfares 2018 - F - - - - - - - 1 LOVD
-/. - c.397T>C r.(?) p.(Leu133=) Unknown - benign g.88452878A>G g.87986534A>G GALC(NM_000153.4):c.397T>C (p.L133=) - GALC_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409G>T r.(?) p.(Ala137Ser) Unknown - VUS g.88452866C>A g.87986522C>A GALC(NM_000153.3):c.409G>T (p.A137S) - GALC_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.411_413del r.(?) p.(Lys139del) Unknown - likely pathogenic g.88452862_88452864del g.87986518_87986520del GALC(NM_000153.3):c.411_413delTAA (p.K139del) - GALC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430del r.(?) p.(Ile144LeufsTer27) Unknown - pathogenic g.88452845del g.87986501del GALC(NM_000153.3):c.430delA (p.I144Lfs*27) - GALC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443-11T>G r.(=) p.(=) Unknown - likely benign g.88450888A>C g.87984544A>C GALC(NM_000153.4):c.443-11T>G - GALC_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461C>A r.(?) p.(Pro154His) Unknown - likely benign g.88450859G>T g.87984515G>T GALC(NM_000153.3):c.461C>A (p.P154H) - GALC_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525C>T r.(?) p.(Val175=) Unknown - likely benign g.88450795G>A g.87984451G>A GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=)) - GALC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525C>T r.(?) p.(Val175=) Unknown - likely benign g.88450795G>A g.87984451G>A GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=)) - GALC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.525C>T r.(?) p.(Val175=) Unknown - likely benign g.88450795G>A - GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=)) - GALC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.530C>A r.(?) p.(Thr177Asn) Unknown - likely benign g.88450790G>T g.87984446G>T GALC(NM_000153.3):c.530C>A (p.T177N) - GALC_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.542G>A r.(?) p.(Gly181Asp) Unknown - likely pathogenic g.88450778C>T g.87984434C>T GALC(NM_000153.4):c.542G>A (p.G181D) - GALC_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - Healthy/Control - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - ABL - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. 5 c.550C>T r.(?) p.(Arg184Cys) Unknown - VUS g.88450770G>A g.87984426G>A - - GALC_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A g.87984426G>A GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550C>T r.(?) p.(Arg184Cys) Parent #1 - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 160 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1805078 Germline - 160/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 160 Mohammed Faruq
-?/. - c.550C>T r.(?) p.(Arg184Cys) Both (homozygous) - likely benign g.88450770G>A g.87984426G>A - - GALC_000001 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1805078 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.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A - GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.550C>T r.(?) p.(Arg184Cys) Unknown - benign g.88450770G>A - GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C) - GALC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.621+1G>A r.spl? p.? Unknown - pathogenic g.88448548C>T g.87982204C>T GALC(NM_000153.3):c.621+1G>A - GALC_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621+15A>G r.(=) p.(=) Unknown - likely benign g.88448534T>C g.87982190T>C GALC(NM_000153.4):c.621+15A>G - GALC_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.621+24T>C r.(=) p.(=) Unknown - benign g.88448525A>G g.87982181A>G GALC(NM_000153.3):c.621+24T>C - GALC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.742G>A r.(?) p.(Asp248Asn) Unknown - benign g.88442712C>T g.87976368C>T GALC(NM_000153.3):c.742G>A (p.D248N), GALC(NM_000153.4):c.742G>A (p.D248N), GALC(NM_001201402.2):c.664G>A (p.D222N) - GALC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.742G>A r.(?) p.(Asp248Asn) Unknown - benign g.88442712C>T g.87976368C>T GALC(NM_000153.3):c.742G>A (p.D248N), GALC(NM_000153.4):c.742G>A (p.D248N), GALC(NM_001201402.2):c.664G>A (p.D222N) - GALC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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