Full data view for gene XYLT1

Information The variants shown are described using the NM_022166.3 transcript reference sequence.

152 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
?/. _1 c.-850C>A - - - Parent #1 - VUS g.17565503G>T g.17471646G>T -1088C>A - XYLT1_000036 - PubMed: Faust 2014 - rs59423557 Germline - 70/200 chromosomes - - - DNA SEQ - - Healthy/Control 25480529-con PubMed: Faust 2014 analysis 100 controls F;M - Germany - - - - - 70 Johan den Dunnen
?/. _1 c.-850C>A - - - Parent #1 - VUS g.17565503G>T g.17471646G>T -1088C>A - XYLT1_000036 reference sequence at -165 (-403) PubMed: Faust 2014 - rs59423557 Germline - 6/200 chromosomes - - - DNA SEQ - - Healthy/Control 25480529-con PubMed: Faust 2014 100 controls F;M - Germany - - - - - 6 Johan den Dunnen
+/. _1 c.-850C>A - r.=|[0.5] p.(=) Both (homozygous) - NA g.17565503G>T g.17471646G>T -1088C>A - XYLT1_000036 expression cloning luciferase promoter activity shows 0.5 reduced activity; serum XT activity unchanged PubMed: Faust 2014 - rs59423557 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.(-529_363+1700)insN[2500] - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(17562591_17565182)insN[2500] - - - XYLT1_000031 - PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam07Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 1 c.(-529_363+1700)insN[300] - r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(17562591_17565182)insN[300] - - - XYLT1_000030 - PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam06Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 1 c.(-529_363+1700)insN[?] - r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(17562591_17565182)insN[?] - - - XYLT1_000033 - PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam07Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. 1 c.(-529_363+1700)insN[?] - r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(17562591_17565182)insN[?] - - - XYLT1_000033 - PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam08Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 1 c.(-529_363+1700)ins[(2200_2500)] - r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(17562591_17565182)insN[(2200_2500)] - - - XYLT1_000029 expanded maternal allele (ins300 > 2200_2500) PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam04Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 1 c.(-529_363+1700)ins[(2200_2800)] - r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(17562591_17565182)insN[(2200_2800)] - - - XYLT1_000032 expanded maternal allele (ins500-700 > 2200_2800) PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam07Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. 1 c.(-529_363+1700)ins[(300_2500)] - r.0 p.0 Parent #2 - pathogenic (recessive) g.(17562591_17565182)insN[(300_2500)] - - - XYLT1_000028 - PubMed: LaCroix 2018 - - Germline - - - - - DNA Southern - - BSS 30554721-Fam02Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/- _1 c.-165C>T - - - Parent #1 - benign g.17564818G>A g.17470961G>A -403C>T - XYLT1_000035 - PubMed: Faust 2014 - rs118030014 Germline - 70/200 chromosomes - - - DNA SEQ - - Healthy/Control 25480529-con PubMed: Faust 2014 analysis 100 controls F;M - Germany - - - - - 70 Johan den Dunnen
-/- _1 c.-165C>T - - - Parent #1 - benign g.17564818G>A g.17470961G>A - - XYLT1_000035 reference sequence at -850 (-1088) PubMed: Faust 2014 - rs118030014 Germline - 26/200 chromosomes - - - DNA SEQ - - Healthy/Control 25480529-con PubMed: Faust 2014 100 controls F;M - Germany - - - - - 26 Johan den Dunnen
-/. _1 c.-165C>T - r.= p.= Both (homozygous) - NA g.17564818G>A g.17470961G>A -403C>T - XYLT1_000035 expression cloning luciferase promoter activity unchanged PubMed: Faust 2014 - rs118030014 In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[211] GCG[6] - - Unknown - benign g.17564778_17564779insN[211] - -27bp - XYLT1_000042 - PubMed: Faust 2014 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[220] GCG[9] - - Unknown - benign g.17564778_17564779insN[220] - -18bp - XYLT1_000040 - PubMed: Faust 2014 - - Germline - 1/45 - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[232] GCG[6]GCA[1]GCG[6] - - Unknown - benign g.17564778_17564779insN[232] - -6bp - XYLT1_000039 - PubMed: Faust 2014 - - Germline - 9/45 - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[235] GCG[7]GCA[1]GCG[6] - - Unknown - benign g.17564778_17564779insN[235] - -3bp - XYLT1_000037 - PubMed: Faust 2014 - - Germline - 2/45 - - - - - - - - - - - - - - - - - - - - -
-/- _1 c.-126_-125insN[238] GCG[8]GCA[1]GCG[6] - - Both (homozygous) - benign g.17564778_17564779insN[238] - - - XYLT1_000034 error in reference sequence, missing 238 nucleotides (CGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCGCCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTCCCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTCTGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGGCG) PubMed: Faust 2014 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[241] GCG[6]GCA[1]GCG[9] - - Unknown - benign g.17564778_17564779insN[241] - +3bp - XYLT1_000041 - PubMed: Faust 2014 - - Germline - 5/45 - - - - - - - - - - - - - - - - - - - - -
-?/. _1 c.-126_-125insN[244] GCG[10]GCA[1]GCG[6] - - Unknown - benign g.17564778_17564779insN[244] - +6bp - XYLT1_000038 - PubMed: Faust 2014 - - Germline - 1/45 - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-16_-15= - - - Maternal (confirmed) - benign g.17564668_17564669|gom - - - XYLT1_000026 - PubMed: LaCroix 2018 - - Somatic - - - - BsrF1 digestion, PCR DNA PCRdig - - BSS 30554721-Fam05Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1 c.-16_-15= - - - Paternal (confirmed) - benign g.17564668_17564669|gom - - - XYLT1_000026 - PubMed: LaCroix 2018 - - Somatic - - - - BsrF1 digestion and PCR DNA PCRdig, PCRms - - BSS 30554721-Fam01Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1 c.-16_-15= - - - Parent #2 - benign g.17564668_17564669|gom - - - XYLT1_000026 - PubMed: LaCroix 2018 - - Somatic - - - - BsrF1 digestion and PCR DNA PCRdig, PCRms - - BSS 30554721-Fam02Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1 c.-5C>G - r.(=) p.(=) Maternal (confirmed) - benign g.17564658G>C g.17470801G>C - - XYLT1_000025 - PubMed: LaCroix 2018 - - Germline - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam05Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
-/. 1 c.-5C>G - r.(=) p.(=) Maternal (confirmed) - benign g.17564658G>C g.17470801G>C - - XYLT1_000025 - PubMed: LaCroix 2018 - rs117041807 Germline - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam05Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Both (homozygous) - benign g.17564140_17564583|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam08Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Both (homozygous) - benign g.17564140_17564583|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam07Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
-/. 1_1i - - - - Both (homozygous) - benign g.17564140_17564583|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam07Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Maternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam04Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Maternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam06Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Maternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam03Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. 1_1i - - - - Maternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam05Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
-/. 1_1i - - - - Maternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRms - - BSS 30554721-Fam05Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - - - - - Paternal (confirmed) - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - - DNA PCRdig, PCRms - - BSS 30554721-Fam01Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - - - - - Parent #2 - benign g.17564178_17564560|gom - - - XYLT1_000027 - PubMed: LaCroix 2018 - - Somatic - - - - bisulfite sequencing DNA PCRdig, PCRms - - BSS 30554721-Fam02Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(15300000_15355329)_(18692057_18800000)del - - arr[hg19] 16p13.11p12.3(15,355,329–18,692,057)x1 XYLT1_000012 3.3 Mb deletion incl. KIAA0430, NDE1, MYH11, ABCC1, ABCC6, NOMO3 , XYLT1, NOMO2  PubMed: Van Koningsbruggen 2016 - - Germline - - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - DBQD 26601923-FamPat PubMed: Van Koningsbruggen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_15300000)_(18400000_?)del - - - XYLT1_000000 - PubMed: LaCroix 2018 - - Germline - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam03Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Paternal (inferred) - pathogenic (recessive) g.(?_15300000)_(18400000_?)del - - - XYLT1_000000 3.1 Mb deletion PubMed: LaCroix 2018 - - De novo - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam04Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_15300000)_(18400000_?)del - - - XYLT1_000000 - PubMed: LaCroix 2018 - - Germline yes - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam05Pat1 PubMed: LaCroix 2018 2-generation family, affected brothers, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_15300000)_(18400000_?)del - - - XYLT1_000000 - PubMed: LaCroix 2018 - - Germline yes - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam05Pat4 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0 p.0 Paternal (confirmed) - pathogenic (recessive) g.(?_15300000)_(18400000_?)del - - - XYLT1_000000 - PubMed: LaCroix 2018 - - Germline - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam06Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+/. _1_12_ c.-85_*6371{0} - r.0? p.0? Parent #2 - pathogenic (recessive) g.(?_17196181)_(17564738_?)del g.(?_17102324)_(17470881_?)del - - XYLT1_000012 57Kb XYTL1 deletion PubMed: Palmer 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - DBQD, NDD C1 PubMed: Palmer 2022 2-generation family, affected brother/sister, asymptomatic carrier mother M - - Europe;white - - - - 2 Johan den Dunnen
+/. - c.98_99del - r.(?) p.(Trp33Ter) Unknown - pathogenic g.17564555_17564556del g.17470698_17470699del XYLT1(NM_022166.4):c.98_99delGG (p.W33*) - XYLT1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117C>T - r.(?) p.(Asp39=) Unknown - likely benign g.17564537G>A g.17470680G>A XYLT1(NM_022166.3):c.117C>T (p.D39=) - XYLT1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A - r.(?) p.(Gly52Ser) Unknown - likely benign g.17564500C>T g.17470643C>T XYLT1(NM_022166.3):c.154G>A (p.(Gly52Ser)) - XYLT1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176C>T - r.(?) p.(Pro59Leu) Unknown - likely benign g.17564478G>A - XYLT1(NM_022166.4):c.176C>T (p.(Pro59Leu)) - XYLT1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.179C>T - r.(?) p.(Ala60Val) Unknown - likely benign g.17564475G>A - XYLT1(NM_022166.3):c.179C>T (p.(Ala60Val)) - XYLT1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>T - r.(?) p.(Ala72=) Unknown - likely benign g.17564438G>A - XYLT1(NM_022166.4):c.216C>T (p.A72=) - XYLT1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.246_248del - r.(?) p.(Gly90del) Unknown - VUS g.17564419_17564421del - XYLT1(NM_022166.4):c.246_248del (p.(Gly90del)) - XYLT1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.246_248dup - r.(?) p.(Gly90dup) Unknown - VUS g.17564419_17564421dup - XYLT1(NM_022166.3):c.246_248dupAGG (p.G90dup) - XYLT1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.257G>A - r.(?) p.(Gly86Glu) Unknown - likely benign g.17564397C>T - XYLT1(NM_022166.3):c.257G>A (p.G86E) - XYLT1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.276dup - r.(?) p.(Pro93Alafs*69) Both (homozygous) - pathogenic g.17564382dup g.17470525dup - - XYLT1_000003 - PubMed: Bui 2014 - - Germline yes 1/19 cases - - - DNA SEQ - - DBQD2 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) M yes (Belgium) Belgian - - - - 1 Marianne Vos (LOVD-team)
+/. - c.281_306del - r.(?) p.(Gln94Argfs*59) Maternal (confirmed) - pathogenic (recessive) g.17564354_17564379del g.17470497_17470522del - - XYLT1_000024 variant appeared homozygous (other allele not amplified) PubMed: LaCroix 2018 - - Germline - - - - - DNA arraySNP, SEQ, PCR - - BSS 30554721-Fam01Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.307G>A - r.(?) p.(Gly103Arg) Unknown - likely benign g.17564347C>T g.17470490C>T XYLT1(NM_022166.3):c.307G>A (p.G103R, p.(Gly103Arg)) - XYLT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307G>A - r.(?) p.(Gly103Arg) Unknown - likely benign g.17564347C>T - XYLT1(NM_022166.3):c.307G>A (p.G103R, p.(Gly103Arg)) - XYLT1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.319G>T - r.319g>u p.Gly107* Parent #1 - pathogenic (recessive) g.17564335C>A g.17470478C>A - - XYLT1_000023 variant appeared homozygous (other allele not amplified) PubMed: LaCroix 2018 - - Germline - - - - - DNA, RNA arraySNP, PCR, RT-PCR, SEQ - - BSS 30554721-Fam02Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - c.343G>T - r.(?) p.(Ala115Ser) Unknown - benign (!) g.17564311C>A g.17470454C>A - - XYLT1_000014 significantly increased serum XT-I activity (homo/heterozygous), associated with severe PXE (skin lesions) PubMed: Schön 2006 - - Germline - 6/130 chromosomes - - - DNA DHPLC, SEQ - - PXE 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - 6 Johan den Dunnen
-?/. - c.343G>T - r.(?) p.(Ala115Ser) Unknown - likely benign g.17564311C>A g.17470454C>A XYLT1(NM_022166.3):c.343G>T (p.(Ala115Ser)), XYLT1(NM_022166.4):c.343G>T (p.A115S) - XYLT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.343G>T - r.(?) p.(Ala115Ser) Parent #1 - benign g.17564311C>A g.17470454C>A - - XYLT1_000014 20 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61758388 Germline - 20/2774 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
-/. - c.343G>T - r.(?) p.(Ala115Ser) Both (homozygous) - benign g.17564311C>A g.17470454C>A - - XYLT1_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61758388 Germline - 1/2774 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.343G>T - r.(?) p.(Ala115Ser) Unknown - VUS g.17564311C>A - XYLT1(NM_022166.3):c.343G>T (p.(Ala115Ser)), XYLT1(NM_022166.4):c.343G>T (p.A115S) - XYLT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.364-5? - r.(?) p.(=) Unknown - benign g.17451912A? - IVS1-5C>G - XYLT1_000000 - PubMed: Schön 2006 - - Germline - - - - - DNA DHPLC, SEQ - - PXE 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - 1 Johan den Dunnen
?/. - c.380C>T - r.(?) p.(Pro127Leu) Unknown - VUS g.17451891G>A - XYLT1(NM_022166.3):c.380C>T (p.P127L) - XYLT1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+7A>G - r.(=) p.(=) Unknown - likely benign g.17451862T>C - XYLT1(NM_022166.4):c.402+7A>G - XYLT1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421C>T - r.(?) p.(Arg141Trp) Parent #1 - VUS g.17353337G>A g.17259480G>A - - XYLT1_000056 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs74993523 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
+/. 3 c.439C>T - r.(?) p.(Arg147*) Both (homozygous) - pathogenic g.17353319G>A g.17259462G>A - - XYLT1_000002 - PubMed: Bui 2014 - - Germline yes 1/19 cases - - - DNA SEQ - - DBQD2 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) F yes Mauritius Mauritian - - - - 1 Marianne Vos (LOVD-team)
+/. - c.595C>T - r.(?) p.(Gln199*) Maternal (confirmed) - pathogenic (recessive) g.17353163G>A g.17259306G>A - - XYLT1_000009 - PubMed: Jamsheer 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBQD 27030147-Pat PubMed: Jamsheer 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Poland - - - - - 1 Johan den Dunnen
-/. - c.606A>G - r.(?) p.(=) Unknown - benign g.17353152T>C - XYLT1(NM_022166.4):c.606A>G (p.K202=) - XYLT1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657C>T - r.(?) p.(=) Unknown - likely benign g.17353101G>A - XYLT1(NM_022166.4):c.657C>T (p.P219=) - XYLT1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668C>G - r.(?) p.(Ala223Gly) Unknown - likely benign g.17353090G>C - XYLT1(NM_022166.3):c.668C>G (p.(Ala223Gly)) - XYLT1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.746C>A - r.(?) p.(Thr249Asn) Unknown - likely benign g.17353012G>T g.17259155G>T XYLT1(NM_022166.3):c.746C>A (p.(Thr249Asn)) - XYLT1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896G>C - r.(?) p.(Arg299Pro) Unknown - VUS g.17352862C>G - XYLT1(NM_022166.3):c.896G>C (p.R299P) - XYLT1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930C>T - r.(?) p.(Asn310=) Unknown - likely benign g.17294495G>A g.17200638G>A XYLT1(NM_022166.3):c.930C>T (p.N310=) - XYLT1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974C>T - r.(?) p.(Pro325Leu) Unknown - VUS g.17294451G>A - XYLT1(NM_022166.4):c.974C>T (p.(Pro325Leu)) - XYLT1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990T>C - r.(?) p.(=) Unknown - likely benign g.17294435A>G - XYLT1(NM_022166.4):c.990T>C (p.F330=) - XYLT1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>A - r.(?) p.(Arg344His) Unknown - VUS g.17294394C>T - XYLT1(NM_022166.3):c.1031G>A (p.(Arg344His)) - XYLT1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044C>T - r.(?) p.(Ala348=) Unknown - likely benign g.17294381G>A - XYLT1(NM_022166.3):c.1044C>T (p.A348=) - XYLT1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1077C>T - r.(=) p.(=) Unknown - benign g.17294348G>A g.17200491G>A - - XYLT1_000015 - PubMed: Schön 2006 - - Germline - 10/130 chromosomes - - - DNA DHPLC, SEQ - - PXE 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - 10 Johan den Dunnen
-?/. - c.1087-338T>C - r.(=) p.(=) Unknown - likely benign g.17292609A>G - XYLT1(NM_022166.4):c.1087-338T>C - XYLT1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129C>G - r.(?) p.(Gln377Glu) Unknown - likely benign g.17292229G>C - XYLT1(NM_022166.3):c.1129C>G (p.(Gln377Glu)) - XYLT1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145G>A - r.(?) p.(Arg382His) Unknown - VUS g.17292213C>T - XYLT1(NM_022166.4):c.1145G>A (p.(Arg382His)) - XYLT1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154C>T - r.(?) p.(Pro385Leu) Unknown - likely benign g.17292204G>A - XYLT1(NM_022166.3):c.1154C>T (p.P385L, p.(Pro385Leu)), XYLT1(NM_022166.4):c.1154C>T (p.P385L) - XYLT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1154C>T - r.(?) p.(Pro385Leu) Unknown - benign g.17292204G>A - XYLT1(NM_022166.3):c.1154C>T (p.P385L, p.(Pro385Leu)), XYLT1(NM_022166.4):c.1154C>T (p.P385L) - XYLT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1154C>T - r.(?) p.(Pro385Leu) Unknown - likely benign g.17292204G>A - XYLT1(NM_022166.3):c.1154C>T (p.P385L, p.(Pro385Leu)), XYLT1(NM_022166.4):c.1154C>T (p.P385L) - XYLT1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1211G>A - r.(?) p.(Ser404Asn) Unknown - VUS g.17292147C>T - XYLT1(NM_022166.3):c.1211G>A (p.(Ser404Asn)) - XYLT1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1216C>T - r.(?) p.(Arg406Trp) Unknown - benign g.17292142G>A g.17198285G>A - - XYLT1_000016 - PubMed: Schön 2006 - - Germline - 1/130 chromosomes - - - DNA DHPLC, SEQ - - PXE 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - 1 Johan den Dunnen
-/. - c.1272G>A - r.(?) p.(=) Unknown - benign g.17292086C>T - XYLT1(NM_022166.4):c.1272G>A (p.A424=) - XYLT1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1284C>G - r.(=) p.(=) Unknown - benign g.17292074G>C g.17198217G>C - - XYLT1_000017 - PubMed: Schön 2006 - - Germline - 21/130 chromosomes - - - DNA DHPLC, SEQ - - PXE 16571645-Pats PubMed: Schön 2006 analysis 64 PXE cases - - Germany - - - - - 21 Johan den Dunnen
+/. 5i c.1290-2A>C - r.spl? p.? Both (homozygous) - likely pathogenic g.17252768T>G g.17158911T>G - - XYLT1_000006 - PubMed: Bui 2014 - - Germline yes 1/19 cases - - - DNA SEQ - - DBQD2 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. 5i c.1290-2A>C - r.spl? p.? Both (homozygous) - pathogenic g.17252768T>G g.17158911T>G - - XYLT1_000006 - PubMed: Bui 2014 - - Germline yes 1/19 cases - - - DNA SEQ - - DBQD2 - PubMed: Bui 2014 2-generation family, 1 affected , unaffected heterozygous carrier parents (from same village) ? ? Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
+/. - c.1290-2A>C - r.spl p.? Both (homozygous) - pathogenic (recessive) g.17252768T>G g.17158911T>G - - XYLT1_000006 - PubMed: Guo 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - DBQD 27881841-Fam2 PubMed: Guo 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1290-2A>C - r.spl p.? Both (homozygous) - pathogenic (recessive) g.17252768T>G g.17158911T>G - - XYLT1_000006 - PubMed: Ranza 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat6 PubMed: Ranza 2017 patient, no family history - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.1290-1G>A - r.1290_1370del p.? Both (homozygous) - pathogenic (recessive) g.17252767C>T g.17158910C>T - - XYLT1_000021 - PubMed: LaCroix 2018 - - Germline - - - - - DNA, RNA arraySNP, PCR, RT-PCR, SEQ - - BSS 30554721-Fam09Pat1 PubMed: LaCroix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.1413C>T - r.(?) p.(Cys471=) Unknown - likely benign g.17235184G>A - XYLT1(NM_022166.4):c.1413C>T (p.C471=) - XYLT1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1429C>T - r.(?) p.(Arg477Cys) Unknown - VUS g.17235168G>A g.17141311G>A XYLT1(NM_022166.4):c.1429C>T (p.(Arg477Cys), p.R477C) - XYLT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1429C>T - r.(?) p.(Arg477Cys) Unknown - VUS g.17235168G>A - XYLT1(NM_022166.4):c.1429C>T (p.(Arg477Cys), p.R477C) - XYLT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1429C>T - r.(?) p.(Arg477Cys) Unknown - VUS g.17235168G>A - XYLT1(NM_022166.4):c.1429C>T (p.(Arg477Cys), p.R477C) - XYLT1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1441C>T - r.(?) p.(Arg481Trp) Both (homozygous) - pathogenic (recessive) g.17235156G>A g.17141299G>A C1441T - XYLT1_000008 homozygosity mapping; normal XT1 protein levels, altered glycosylation of secreted decorin core protein containing PGs PubMed: Schreml 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - DBQD 23982343-Fam PubMed: Schreml 2014 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - - - - 2 Johan den Dunnen
+/. 7i_8 c.1588-10_1595del - r.[1588_1611del,1588_1616del,1587_1588ins1588-45_1588-11,1587_1588ins1588-100_1588-11] p.? Paternal (confirmed) - pathogenic (recessive) g.17232381_17232398del g.17138524_17138541del - - XYLT1_000011 - PubMed: Van Koningsbruggen 2016 - - Germline - - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - DBQD 26601923-FamPat PubMed: Van Koningsbruggen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Netherlands - - - - - 1 Johan den Dunnen
+?/. 7i c.1588-3C>T - r.spl? p.(?) Both (homozygous) - likely pathogenic g.17232391G>A g.17138534G>A - - XYLT1_000005 - PubMed: Bui 2014 - - Germline yes 1/19 cases - - - DNA SEQ - - DBQD2 - PubMed: Bui 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents (1st cousins) ? yes Turkey Turkish - - - - 1 Marianne Vos (LOVD-team)
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