Full data view for gene ATL1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_015915.4 transcript reference sequence.

775 entries on 8 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.-11C>T r.(?) p.(=) Unknown - likely benign g.51026973C>T g.50560255C>T ATL1(NM_001127713.1):c.-11C>T - ATL1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.35-3C>T r.35_282del p.Gly12fs Unknown - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline/De novo (untested) yes - - 0 - DNA, RNA RT-PCR, SEQ leukocytes - SPG-3A - PubMed: Shin 2014 2-generation family, 3 affecteds M - Korea - - 0 - - 1 Christian Beetz
+/. 2 c.35-3C>T r.35_282del p.Gly12fs Paternal (confirmed) - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ leukocytes - SPG-3A - PubMed: Shin 2014 2-generation family, 3 affecteds M - Korea - - 0 - - 1 Christian Beetz
+/. 2 c.35-3C>T r.35_282del p.Gly12fs Paternal (confirmed) - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Shin 2014 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ leukocytes - SPG-3A - PubMed: Shin 2014 2-generation family, 3 affecteds F - Korea - - 0 - - 1 Christian Beetz
+/. 2 c.35-3C>T r.spl p.? Unknown - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Park 2015 - - De novo yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Park 2015 patient 50 with no family history M - ? (unknown) - - 0 - - 1 Christian Beetz
-?/. 2 c.84A>G r.(?) p.(=) Unknown - pathogenic g.51054598A>G g.50587880A>G - - ATL1_000061 - PubMed: Dufke 2012 - rs35014209 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 2 patients with mutation ? - Germany - - 0 - - 1 Christian Beetz
-?/. 2 c.84A>G r.(?) p.(=) Unknown - pathogenic g.51054598A>G g.50587880A>G - - ATL1_000061 - PubMed: Dufke 2012 - rs35014209 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 2 patients with mutation ? - Germany - - 0 - - 1 Christian Beetz
-/. - c.84A>G r.(?) p.(Pro28=) Unknown - benign g.51054598A>G g.50587880A>G ATL1(NM_001127713.1):c.84A>G (p.P28=) - ATL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.84A>G r.(?) p.(Pro28=) Unknown - benign g.51054598A>G g.50587880A>G ATL1(NM_001127713.1):c.84A>G (p.P28=) - ATL1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.196G>C r.(?) p.(Glu66Gln) Unknown - pathogenic g.51054710G>C g.50587992G>C - - ATL1_000047 - PubMed: Guelly 2011 - - Germline/De novo (untested) yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Guelly 2011 HSN Patient A with deceased mother F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 2 c.196G>C r.(?) p.(Glu66Gln) Maternal (confirmed) - pathogenic g.51054710G>C g.50587992G>C - - ATL1_000047 - PubMed: Guelly 2011 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Guelly 2011 HSN Patient A with deceased mother ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. - c.196G>C r.(?) p.(Glu66Gln) Unknown - pathogenic g.51054710G>C g.50587992G>C ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.4):c.196G>C (p.E66Q) - ATL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.196G>C r.(?) p.(Glu66Gln) Unknown - VUS g.51054710G>C - ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.4):c.196G>C (p.E66Q) - ATL1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322A>G r.(?) p.(Thr108Ala) Unknown - likely benign g.51057698A>G - ATL1(NM_001127713.1):c.322A>G (p.T108A) - ATL1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.322A>G r.(?) p.(Thr108Ala) Unknown - likely benign g.51057698A>G - ATL1(NM_001127713.1):c.322A>G (p.T108A) - ATL1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-?/. 3 c.351G>A r.(?) p.(=) Unknown - pathogenic g.51057727G>A g.50591009G>A - - ATL1_000060 - PubMed: Dufke 2012 - rs1060197 Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 8 patients ? - Germany - - 0 - - 1 Christian Beetz
-/. - c.351G>A r.(?) p.(Glu117=) Unknown - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.351G>A r.(?) p.(Glu117=) Unknown - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.351G>A r.(?) p.(Glu117=) Unknown - benign g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/? 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - likely pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - - - - Germline yes - - 0 - DNA arrayCNV, SEQ-NG-S - - SPG-3A - PubMed: Khan 2014 4 generation consanguineous family with 6 affected individuals, unaffected heterozygous carrier parents/relatives M yes Pakistan - - 0 - - 6 Tahir Khan
+/. 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Khan 2014 4-generation family, 6 homozygous affecteds M - Pakistan - - 0 - - 1 Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Khan 2014 4-generation family, 6 homozygous affecteds M - Pakistan - - 0 - - 1 Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Khan 2014 4-generation family, 6 homozygous affecteds M - Pakistan - - 0 - - 1 Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Khan 2014 4-generation family, 6 homozygous affecteds M - Pakistan - - 0 - - 1 Christian Beetz
+/. 3 c.353G>A r.(?) p.(Arg118Gln) Both (homozygous) - pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Khan 2014 4-generation family, 6 homozygous affecteds M - Pakistan - - 0 - - 1 Christian Beetz
-/. - c.417+3A>G r.spl? p.? Unknown - benign g.51057796A>G g.50591078A>G ATL1(NM_001127713.1):c.417+3A>G - ATL1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.418-19G>T r.(=) p.(=) Unknown - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.418-19G>T r.(=) p.(=) Unknown - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.418-19G>T r.(=) p.(=) Unknown - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.(417+1_418-1)_(522+1_523-1)del r.? p.? Unknown - pathogenic g.(51057794_51058252)_(51058358_51060563)del - del exon 4 - ATL1_000079 - PubMed: Sulek 2013 - - De novo yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Sulek 2013 1 patient with del exon 3 ? - Poland - - 0 - - 1 Christian Beetz
?/. - c.439A>T r.(?) p.(Thr147Ser) Unknown - VUS g.51058274A>T - ATL1(NM_001127713.1):c.439A>T (p.T147S) - ATL1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450C>A r.(?) p.(Thr150=) Unknown - likely benign g.51058285C>A - ATL1(NM_001127713.1):c.450C>A (p.T150=) - ATL1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Paternal (confirmed) - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 variant present in affected index and his father, absent in his mother - - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - SPG-3A - - family, 2 affecteds M yes (France);Sudan - - 0 yes - 2 Mahmoud Koko
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 11 patients in 1 family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 - PubMed: Ivanova 2007 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Ivanova 2007 2-generation family, 2 affecteds ? - Germany - - 0 - - 1 Christian Beetz
+/. 4 c.452T>C r.(?) p.(Phe151Ser) Unknown - pathogenic g.51058287T>C g.50591569T>C - - ATL1_000012 - PubMed: Ivanova 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Ivanova 2007 2-generation family, 2 affecteds ? - Germany - - 0 - - 1 Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) Unknown - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - 1 Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) Unknown - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - 1 Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) Unknown - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Elert-Dobkowska 2015 3 affecteds ? - Poland - - 0 - - 1 Christian Beetz
+/. 4 c.458G>C r.(?) p.(Ser153Thr) Unknown - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Dufke 2012 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Dufke 2012 Patient 20 ? - Germany - - 0 - - 1 Christian Beetz
+/. 4 c.460C>G r.(?) p.(Gln154Glu) Unknown - pathogenic g.51058295C>G g.50591577C>G - - ATL1_000044 - PubMed: Álvarez 2010 - - De novo yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Álvarez 2010 3-generation family, 2 affecteds, 1st generation not affected M - Spain - - 0 - - 1 Christian Beetz
+/. 4 c.460C>G r.(?) p.(Gln154Glu) Paternal (confirmed) - pathogenic g.51058295C>G g.50591577C>G - - ATL1_000044 - PubMed: Álvarez 2010 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Álvarez 2010 3-generation family, 2 affecteds, 1st generation not affected M - Spain - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Unknown - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Paternal (confirmed) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Paternal (confirmed) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Paternal (confirmed) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Paternal (confirmed) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.467C>T r.(?) p.(Thr156Ile) Paternal (confirmed) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Hedera 2004 4-generation family, 6 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.470T>G r.(?) p.(Leu157Trp) Parent #1 - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Rainier 2006 - - De novo yes - - 0 - DNA SEQ - - SPG-3A - PubMed: Rainier 2006 2-generation family, affected mother/son F;M no - - - 0 - - 2 Johan den Dunnen
+/. 4 c.470T>G r.(?) p.(Leu157Trp) Unknown - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Ivanova 2007 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Ivanova 2007 3-generation family, 2 affecteds ? - Belgium - - 0 - - 1 Christian Beetz
+/. 4 c.470T>G r.(?) p.(Leu157Trp) Unknown - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Ivanova 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Ivanova 2007 3-generation family, 2 affecteds ? - Belgium - - 0 - - 1 Christian Beetz
+/. 4 c.473G>C r.(?) p.(Arg158Thr) Unknown - pathogenic g.51058308G>C g.50591590G>C - - ATL1_000056 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - 1 Christian Beetz
+/. 4 c.473G>C r.(?) p.(Arg158Thr) Unknown - pathogenic g.51058308G>C g.50591590G>C - - ATL1_000056 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: Elert-Dobkowska 2015 2 affecteds ? - Poland - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 4 patients in one family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 4 patients in one family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 4 patients in one family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 4 patients in one family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 3 patients in family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 3 patients in family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Abel 2004 3 patients in family ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 3-generation family, 4 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Maternal (confirmed) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 3-generation family, 4 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Maternal (confirmed) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 3-generation family, 4 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Maternal (confirmed) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 3-generation family, 4 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Unknown - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 patient with brother and father M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Paternal (confirmed) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 patient with brother and father F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.481G>C r.(?) p.(Ala161Pro) Paternal (confirmed) - pathogenic g.51058316G>C g.50591598G>C - - ATL1_000008 - PubMed: Sauter 2004 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Sauter 2004 patient with brother and father M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.484A>C r.(?) p.(Thr162Pro) Unknown - pathogenic g.51058319A>C g.50591601A>C - - ATL1_000021 - PubMed: Namekawa 2006 - - Germline yes - - 0 - DNA DHPLC leukocytes - SPG-3A - PubMed: Namekawa 2006 1 family with variant in exon 4 ? - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) Unknown - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline/De novo (untested) yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: de Bot 2013 3-generation family, 3 affecteds F - Netherlands - - 0 - - 1 Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) Maternal (confirmed) - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: de Bot 2013 3-generation family, 3 affecteds F - Netherlands - - 0 - - 1 Christian Beetz
+/. 4 c.488T>C r.(?) p.(Val163Ala) Maternal (confirmed) - pathogenic g.51058323T>C g.50591605T>C - - ATL1_000052 - PubMed: de Bot 2013 - - Germline yes - - 0 - DNA MLPA leukocytes - SPG-3A - PubMed: de Bot 2013 3-generation family, 3 affecteds M - Netherlands - - 0 - - 1 Christian Beetz
+?/. - c.488T>C r.(?) p.(Val163Ala) Unknown - likely pathogenic g.51058323T>C g.50591605T>C ATL1(NM_001127713.1):c.488T>C (p.V163A) - ATL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.488T>C r.(?) p.(Val163Ala) Unknown - likely pathogenic g.51058323T>C - ATL1(NM_001127713.1):c.488T>C (p.V163A) - ATL1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.493G>A r.(?) p.(Ala165Thr) Unknown - pathogenic g.51058328G>A g.50591610G>A - - ATL1_000037 - PubMed: Smith 2009 - - Germline/De novo (untested) yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Smith 2009 Patient Number 1 M - United Kingdom (Great Britain) - - 0 - - 1 Christian Beetz
+/. 4 c.493G>A r.(?) p.(Ala165Thr) Paternal (confirmed) - pathogenic g.51058328G>A g.50591610G>A - - ATL1_000037 - PubMed: Smith 2009 - - Germline yes - - 0 - DNA SEQ leukocytes - SPG-3A - PubMed: Smith 2009 Patient Number 1 M - United Kingdom (Great Britain) - - 0 - - 1 Christian Beetz
+/. - c.493G>T r.(?) p.(Ala165Ser) Unknown - pathogenic g.51058328G>T g.50591610G>T - - ATL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.508A>G r.(?) p.(Ile170Val) Unknown - VUS g.51058343A>G g.50591625A>G ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val)) - ATL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.508A>G r.(?) p.(Ile170Val) Unknown - VUS g.51058343A>G g.50591625A>G ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val)) - ATL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.565C>G r.(?) p.(His189Asp) Unknown - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline/De novo (untested) yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Li 2007 3-generation family, 8 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) Maternal (confirmed) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Li 2007 3-generation family, 8 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) Maternal (confirmed) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Li 2007 3-generation family, 8 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) Maternal (confirmed) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Li 2007 3-generation family, 8 affecteds M - ? (unknown) - - 0 - - 1 Christian Beetz
+/. 5 c.565C>G r.(?) p.(His189Asp) Maternal (confirmed) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline yes - - 0 - DNA PCR leukocytes - SPG-3A - PubMed: Li 2007 3-generation family, 8 affecteds F - ? (unknown) - - 0 - - 1 Christian Beetz
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