Full data view for gene NT5DC1

Information The variants shown are described using the NM_152729.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.185+27del r.(=) p.(=) Unknown - likely benign g.116427525del g.116106362del NT5DC1(NM_152729.2):c.185+27delT - NT5DC1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>A r.(?) p.(Asp161Asn) Unknown - VUS g.116439060G>A g.116117897G>A NT5DC1(NM_152729.2):c.481G>A (p.(Asp161Asn)) - COL10A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+2122_529+2123insGGG r.(=) p.(=) Unknown - benign g.116441230_116441231insGGG g.116120067_116120068insGGG COL10A1(NM_000493.4):c.*5_*6insCCC, NT5DC1(NM_152729.3):c.529+2122_529+2123insGGG - COL10A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2163A>C r.(=) p.(=) Unknown - likely benign g.116441271A>C - - - COL10A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.529+2214G>A r.(=) p.(=) Unknown - pathogenic g.116441322G>A - - - COL10A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2319C>A r.(=) p.(=) Unknown - VUS g.116441427C>A - COL10A1(NM_000493.4):c.1852G>T (p.(Gly618Cys)) - COL10A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.529+2323del r.(=) p.(=) Unknown - pathogenic g.116441431del - - - COL10A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.529+2330A>G r.(=) p.(=) Unknown - likely pathogenic g.116441438A>G - COL10A1(NM_000493.3):c.1841T>C (p.(Leu614Pro)) - COL10A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.529+2330A>G r.(=) p.(=) Unknown - likely pathogenic g.116441438A>G - COL10A1(NM_000493.3):c.1841T>C (p.(Leu614Pro)) - COL10A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2333C>G r.(=) p.(=) Unknown - VUS g.116441441C>G - COL10A1(NM_000493.3):c.1838G>C (p.(Gly613Ala)) - COL10A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2351C>A r.(=) p.(=) Unknown - VUS g.116441459C>A - - - COL10A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2393A>G r.(=) p.(=) Unknown - VUS g.116441501A>G - - - COL10A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.529+2400A>C r.(=) p.(=) Unknown ACMG likely pathogenic g.116441508A>C g.116120345A>C COL10A1, NM_000493.3, c.1771T>G,p.Cys591Gly - COL10A1_000020 heterozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 5_AD PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
?/. - c.529+2507G>A r.(=) p.(=) Unknown - VUS g.116441615G>A - COL10A1(NM_000493.4):c.1664C>T (p.(Thr555Ile)) - COL10A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.529+2554_529+2555del r.(=) p.(=) Unknown - likely pathogenic g.116441662_116441663del - COL10A1(NM_000493.4):c.1616_1617del (p.(Leu539Argfs*2)) - COL10A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2590C>G r.(=) p.(=) Unknown - likely benign g.116441698C>G - COL10A1(NM_000493.3):c.1581G>C (p.(Lys527Asn)) - COL10A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2590C>T r.(=) p.(=) Unknown - likely benign g.116441698C>T - COL10A1(NM_000493.3):c.1581G>A (p.K527=) - COL10A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2610T>A r.(=) p.(=) Unknown - likely benign g.116441718T>A - COL10A1(NM_000493.3):c.1561A>T (p.(Met521Leu)) - COL10A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2646G>A r.(=) p.(=) Unknown - VUS g.116441754G>A g.116120591G>A COL10A1(NM_000493.3):c.1525C>T (p.(Pro509Ser)) - COL10A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+2738G>A r.(=) p.(=) Unknown - VUS g.116441846G>A - COL10A1(NM_000493.3):c.1433C>T (p.(Ala478Val)) - COL10A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2754C>T r.(=) p.(=) Unknown - likely benign g.116441862C>T g.116120699C>T - - COL10A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2807C>A r.(=) p.(=) Unknown - likely benign g.116441915C>A - COL10A1(NM_000493.4):c.1364G>T (p.(Gly455Val)) - COL10A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+2910G>A r.(=) p.(=) Unknown - likely benign g.116442018G>A g.116120855G>A COL10A1(NM_000493.3):c.1261C>T (p.(Pro421Ser)) - COL10A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3024C>T r.(=) p.(=) Unknown - VUS g.116442132C>T - COL10A1(NM_000493.3):c.1147G>A (p.(Gly383Arg)) - COL10A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3063C>G r.(=) p.(=) Unknown - VUS g.116442171C>G - COL10A1(NM_000493.4):c.1108G>C (p.A370P) - COL10A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3123C>T r.(=) p.(=) Unknown - VUS g.116442231C>T g.116121068C>T - - COL10A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3155G>A r.(=) p.(=) Unknown - VUS g.116442263G>A - COL10A1(NM_000493.3):c.1016C>T (p.(Pro339Leu)) - COL10A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3306T>C r.(=) p.(=) Unknown - likely benign g.116442414T>C g.116121251T>C COL10A1(NM_000493.3):c.865A>G (p.(Ile289Val)) - COL10A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3388T>G r.(=) p.(=) Unknown - likely benign g.116442496T>G g.116121333T>G COL10A1(NM_000493.3):c.783A>C (p.(Glu261Asp)) - COL10A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3398C>T r.(=) p.(=) Unknown - likely benign g.116442506C>T g.116121343C>T COL10A1(NM_000493.3):c.773G>A (p.R258Q, p.(Arg258Gln)) - COL10A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3398C>T r.(=) p.(=) Unknown - likely benign g.116442506C>T g.116121343C>T COL10A1(NM_000493.3):c.773G>A (p.R258Q, p.(Arg258Gln)) - COL10A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3404C>T r.(=) p.(=) Unknown - VUS g.116442512C>T - COL10A1(NM_000493.3):c.767G>A (p.(Gly256Glu)) - COL10A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3459C>G r.(=) p.(=) Unknown - VUS g.116442567C>G - - - COL10A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3578C>T r.(=) p.(=) Unknown - likely benign g.116442686C>T g.116121523C>T COL10A1(NM_000493.3):c.593G>A (p.R198H, p.(Arg198His)) - COL10A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3578C>T r.(=) p.(=) Unknown - likely benign g.116442686C>T g.116121523C>T COL10A1(NM_000493.3):c.593G>A (p.R198H, p.(Arg198His)) - COL10A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3758C>T r.(=) p.(=) Unknown - likely benign g.116442866C>T - COL10A1(NM_000493.3):c.413G>A (p.(Arg138Gln)) - COL10A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+3773C>G r.(=) p.(=) Unknown - VUS g.116442881C>G - COL10A1(NM_000493.4):c.398G>C (p.(Gly133Ala)) - COL10A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3789C>T r.(=) p.(=) Unknown - likely benign g.116442897C>T g.116121734C>T COL10A1(NM_000493.3):c.382G>A (p.(Asp128Asn)) - COL10A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+3915C>T r.(=) p.(=) Unknown - likely benign g.116443023C>T - COL10A1(NM_000493.3):c.256G>A (p.(Gly86Arg)) - COL10A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+4001C>T r.(=) p.(=) Unknown - VUS g.116443109C>T - COL10A1(NM_000493.3):c.170G>A (p.(Gly57Glu)) - COL10A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+4013A>C r.(=) p.(=) Unknown - likely benign g.116443121A>C - COL10A1(NM_000493.4):c.158T>G (p.(Ile53Arg)) - COL10A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+7398A>T r.(=) p.(=) Unknown - likely benign g.116446506A>T - COL10A1(NM_000493.3):c.150T>A (p.S50R, p.(Ser50Arg)) - COL10A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+7398A>T r.(=) p.(=) Unknown - likely benign g.116446506A>T - COL10A1(NM_000493.3):c.150T>A (p.S50R, p.(Ser50Arg)) - COL10A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+7468A>G r.(=) p.(=) Unknown - benign g.116446576A>G g.116125413A>G COL10A1(NM_000493.4):c.80T>C (p.M27T), NT5DC1(NM_152729.3):c.529+7468A>G - COL10A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+7468A>G r.(=) p.(=) Unknown - benign g.116446576A>G g.116125413A>G COL10A1(NM_000493.4):c.80T>C (p.M27T), NT5DC1(NM_152729.3):c.529+7468A>G - COL10A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+7478G>A r.(=) p.(=) Unknown - VUS g.116446586G>A - COL10A1(NM_000493.3):c.70C>T (p.(Arg24Ter)) - COL10A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.529+7525A>C r.(=) p.(=) Unknown - likely benign g.116446633A>C - COL10A1(NM_000493.3):c.23T>G (p.(Leu8Trp)) - COL10A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529+7546A>G r.(=) p.(=) Unknown - VUS g.116446654A>G - COL10A1(NM_000493.3):c.2T>C (p.(Met1?)) - COL10A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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