Full data view for gene CTNS

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

154 entries on 2 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     
+/? 1_10 c.?_(62_853)del r.(0) p.0 Maternal (confirmed) - pathogenic g.? - 65 Kb deletion - CTNS_000001 RNA on Northern blot; deletion from haplotype analysis PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - Kurd; (Afghanistan;(UK;France)) - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - small deletion - CTNS_000002 cell line; small deletion AA313583 present PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - - - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 cell line PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - - - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 cell line PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - - - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Spain - - - - - 2 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - France - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Switzerland - - - - - 2 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Belgium - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Netherlands - - - - - 3 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Norway - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - United Kingdom (Great Britain) Scotland - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - United Kingdom (Great Britain) Wales - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - United Kingdom (Great Britain) Ireland - - - - 15 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - United Kingdom (Great Britain) England - - - - 13 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Iceland - - - - - 4 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Germany - - - - - 38 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - Italy - - - - - 2 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 carries homozygous deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - - - - - - - 12 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Unknown - pathogenic g.? - small deletion - CTNS_000002 cell line; small deletion AA313583 present PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA PCR - - CTNS - - - - - - - - - - - 2 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Parent #2 - pathogenic g.? - 65 Kb deletion - CTNS_000001 - PubMed: Town et al. 1998, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - France - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Parent #2 - pathogenic g.? - 65 Kb deletion - CTNS_000001 - PubMed: Town et al. 1998, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - France - - - - - 1 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Both (homozygous) - pathogenic g.? - 65 Kb deletion - CTNS_000001 23/70 patients homozygous deletion; not in 200 control chromosomes PubMed: Town et al. 1998 - - Unknown - 23/70 - - - DNA PCR - - CTNS - - - - - - Europe - - - - 23 LOVD
+/? 1_10 c.?_(62_853)del r.(0) p.0 Parent #1 - pathogenic g.? - 65 Kb deletion - CTNS_000001 14/70 patients hemizygous deletion; not in 200 control chromosomes; unknown variant 2nd chromosome PubMed: Town et al. 1998 - - Unknown - 14/70 - - - DNA SEQ - - CTNS - - - - - - Europe - - - - 14 LOVD
+/? 1_10 c.?_(62_853)del r.0 p.0 Both (homozygous) - pathogenic g.? - 57 Kb deletion - CTNS_000001 - PubMed: Alcantara-Ortigoza MA et al. 2008 - - Unknown - - - - - DNA, RNA RT-PCR, PCR - - CTNS - - - - - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
+/? 1_10 c.?_(62_853)del r.0 p.0 Parent #1 - pathogenic g.? - 57 Kb deletion - CTNS_000001 unknown variant 2nd chromosome - - - Unknown - - - - - DNA, RNA RT-PCR, PCR - - CTNS - - - - - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
+/? 1_10 c.?_(62_853)del r.0 p.0 Parent #1 - pathogenic g.? - 57 Kb deletion - CTNS_000001 - - - - Unknown - - - - - DNA, RNA PCR, SEQ - - CTNS - - - - - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
-/. - c.-397T>C r.(?) p.(=) Unknown - benign g.3539835T>C g.3636541T>C - - CTNS_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-335C>T r.(?) p.(=) Unknown - benign g.3539897C>T g.3636603C>T - - CTNS_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Maternal (confirmed) - pathogenic g.3543518_3543521del g.3640224_3640227del 357_360delGACT - CTNS_000007 - PubMed: Alcántara-Ortigoza MA et al. 2008 - - Germline - - - - - DNA SSCA - - CTNS - PubMed: Alcántara-Ortigoza 2008 - M - Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 could carry 65 Kb deletion; RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - India - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 could carry 65 Kb deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - Germany - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Parent #1 - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - (Netherlands;UK);Hungary - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Parent #1 - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 unknown variant 2nd chromosome PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - Mexico - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0004 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0004 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0004 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
+/? 3 c.18_21del r.(?) p.(Thr7Phefs*7) Both (homozygous) - pathogenic g.3543518_3543521del g.3640224_3640227del 357delGACT - CTNS_000007 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0004 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
+/. - c.18_21del r.(?) p.(Thr7Phefs*7) Parent #1 - pathogenic g.3543518_3543521del g.3640224_3640227del - - CTNS_000007 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786204501 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/? 3 c.22_23del r.(?) p.(Ile8Phefs*13) Maternal (confirmed) - pathogenic g.3543522_3543523del g.3640228_3640229del 22_23delAT - CTNS_000042 - - - - Germline - - - - - DNA SSCA - - CTNS - - compound heterozygous CTNS genotype: c.[1029_1040del];[22_23del] F - Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+?/. 3 c.22_23del r.(?) p.(Ile8Phefs*13) Maternal (confirmed) ACMG likely pathogenic (recessive) g.3543522_3543523del g.3640228_3640229del - - CTNS_000042 This variant that is responsible of 'Cystinosis, nephropathic', was identified in co-occurrence with the COL4A5 heterozygous pathogenic variant NM_033380.3:c.3088G>A, p.Gly1030Ser, causing Alport syndrome 1. This variant was confirmed by Sanger sequencing in patient and tested in parents (maternal confirmed) - - rs758995279 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing CTNS 3bINP-082 Unpubllished Familial case. Co-occurrence of two different monogenic diseases F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/? 3 c.36del r.(?) p.(Leu14*) Both (homozygous) - pathogenic g.3543536del g.3640242del 371/375delT - CTNS_000037 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/? 3 c.40del r.(?) p.(Leu14*) Parent #2 - pathogenic g.3543540del g.3640246del 379delC - CTNS_000003 compound heterozygous PubMed: Alcántara-Ortigoza MA et al. 2008 - - Germline - - - - - DNA SSCA - - CTNS - - - - - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
+/? 3 c.60_61del r.(spl?) p.(Cys20*) Parent #1 - pathogenic g.3543560_3543561del g.3640266_3640267del 397delTG - CTNS_000029 shared haplotyoe other French family PubMed: Town et al. 1998, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - France - - - - - 1 LOVD
+/? 3 c.60_61del r.(spl?) p.(Cys20*) Parent #1 - pathogenic g.3543560_3543561del g.3640266_3640267del 397delTG - CTNS_000029 shared haplotyoe other French family PubMed: Town et al. 1998, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - France - - - - - 1 LOVD
+/? 3i c.61+5G>A r.-21_61del p.0? Paternal (confirmed) - pathogenic g.3543566G>A g.3640272G>A IVS3+5G>A, 400+5G>A - CTNS_000006 novel mutation - first report PubMed: Alcántara-Ortigoza MA et al. 2008 - - Germline - - - - - DNA SSCA - - CTNS - PubMed: Alcántara-Ortigoza 2008 - M - Mexico Mexican - - - - 1 Miguel Angel Alcántara-Ortigoza
+/? 3i c.61+5G>A r.spl? p.0? Both (homozygous) - pathogenic g.3543566G>A g.3640272G>A IVS3+5G>A, 400+5G>A - CTNS_000006 - PubMed: Macias-Vidal J et al., 2009 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - Morocco - - - - - 2 LOVD
+/. 3i c.(61+1_62-1)_(225+1_226-1)del r.62_225del p.(Glu21Glyfs*49) Parent #2 - pathogenic g.(3543562_3550737)_(3552226_3558291)del g.(3640268_3647443)_(3648932_3654997)del 62-?_225+?del - CTNS_000041 - - - - Unknown - - - - - DNA, RNA PCR, SEQ - - CTNS - - - - - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
-?/. - c.64T>A r.(?) p.(Ser22Thr) Unknown - likely benign g.3550740T>A g.3647446T>A CTNS(NM_001031681.2):c.64T>A (p.(Ser22Thr)) - CTNS_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Ser39Leu) Unknown - VUS g.3550792C>T - CTNS(NM_004937.2):c.116C>T (p.S39L), CTNS(NM_004937.3):c.116C>T (p.S39L) - CTNS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Ser39Leu) Unknown - likely benign g.3550792C>T - CTNS(NM_004937.2):c.116C>T (p.S39L), CTNS(NM_004937.3):c.116C>T (p.S39L) - CTNS_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.124G>A r.(?) p.(Val42Ile) Unknown - benign g.3550800G>A g.3647506G>A CTNS(NM_004937.3):c.124G>A (p.V42I) - CTNS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.124G>A r.(?) p.(Val42Ile) Unknown - benign g.3550800G>A g.3647506G>A CTNS(NM_004937.3):c.124G>A (p.V42I) - CTNS_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4i c.140+1G>T r.spl? p.? Both (homozygous) - pathogenic g.3550817G>T g.3647523G>T 479+1G>T - CTNS_000038 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
./. - c.140+511T>C r.(=) p.(=) Both (homozygous) - VUS g.3551327T>C g.3648033T>C - - CTNS_000050 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.188G>A r.(?) p.(Arg63His) Unknown - VUS g.3552188G>A - CTNS(NM_004937.3):c.188G>A (p.(Arg63His)) - CTNS_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.198_218del r.(?) p.(Ile67_Pro73del) Maternal (confirmed) - pathogenic g.3552198_3552218del g.3648904_3648924del 537_557del21 - CTNS_000004 - PubMed: Alcántara-Ortigoza MA et al. 2008 - - Germline - - - - - DNA SSCA - - cystinosis, late-onset juvenile or adolescent nephropathic - PubMed: Alcantara-Ortigoza 2008 two siblings M - Mexico Mexican - - - - 2 Miguel Angel Alcántara-Ortigoza
+/? 5 c.198_218del r.(?) p.(Ile67_Pro73del) Both (homozygous) - pathogenic g.3552198_3552218del g.3648904_3648924del 537del21 - CTNS_000004 could carry 65 Kb deletion; RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 5 c.198_218del r.(?) p.(Ile67_Pro73del) Both (homozygous) - pathogenic g.3552198_3552218del g.3648904_3648924del 537del21 - CTNS_000004 could carry 65 Kb deletion; RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - United Kingdom (Great Britain) Wales (UK;Germany) - - - - 1 LOVD
+/? 5 c.198_218del r.(?) p.(Ile67_Pro73del) Both (homozygous) - pathogenic g.3552198_3552218del g.3648904_3648924del 537del21 - CTNS_000004 could carry 65 Kb deletion; RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - (Norway;UK);(Germany;UK) - - - - 1 LOVD
+/? 5 c.198_218del r.(?) p.(Ile67_Pro73del) Unknown - pathogenic g.3552198_3552218del g.3648904_3648924del c.537_557del21 - CTNS_000004 heterozygous Attard et al., 1999 - - Unknown - - - - - DNA SEQ - - cystinosis, late-onset juvenile or adolescent nephropathic - - - - - - - - - - - 1 LOVD
+?/. - c.198_218del r.(?) p.(Ile67_Pro73del) Unknown - likely pathogenic g.3552198_3552218del - - - CTNS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.206_210del r.(?) p.(Ile69Argfs*5) Both (homozygous) - pathogenic g.3552206_3552210del g.3648912_3648916del 545delTCCTT (I69R) - CTNS_000025 cell line PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
-/. - c.225+1301A>G r.(=) p.(=) Unknown - benign g.3553526A>G g.3650232A>G CTNS(NM_004937.3):c.225+1301A>G - CTNS_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226-11C>T r.(=) p.(=) Unknown - likely benign g.3558281C>T - CTNS(NM_004937.3):c.226-11C>T - CTNS_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.283G>T r.(?) p.(Gly95*) Both (homozygous) - pathogenic g.3558349G>T g.3655055G>T - - CTNS_000028 related families PubMed: Town et al. 1998, OMIM:var0001 - - Unknown - - - - - DNA SEQ - - CTNS - - - - yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+/? 6 c.283G>T r.(?) p.(Gly95*) Both (homozygous) - pathogenic g.3558349G>T g.3655055G>T - - CTNS_000028 related families PubMed: Town et al. 1998, OMIM:var0001 - - Unknown - - - - - DNA SEQ - - CTNS - - - - yes United Kingdom (Great Britain) Pakistan - - - - 1 LOVD
+/? 6 c.314_317del r.(?) p.(His105Profs*12) Both (homozygous) - pathogenic g.3558380_3558383del g.3655086_3655089del 651delTCAC (H105P) - CTNS_000031 could carry 65 Kb deletion PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - (Germany;UK);Germany - - - - 1 LOVD
-/? 6i c.330-5T>C r.(=) p.(=) Unknown - benign g.3558510T>C g.3655216T>C 669-5T>C - CTNS_000020 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SEQ, SSCA - - Healthy/Control - - - - - - - - - - - 1 LOVD
-/. - c.356G>A r.(?) p.(Arg119His) Unknown - benign g.3558541G>A g.3655247G>A CTNS(NM_004937.3):c.356G>A (p.R119H) - CTNS_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.382C>T r.(?) p.(Gln128*) Both (homozygous) - pathogenic g.3558567C>T g.3655273C>T 721C>T - CTNS_000027 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - France;UK - - - - 1 LOVD
+/? 7 c.382C>T r.(?) p.(Gln128*) Both (homozygous) - pathogenic g.3558567C>T g.3655273C>T 721C>T - CTNS_000027 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
+/. - c.382C>T r.(?) p.(Gln128*) Unknown - pathogenic g.3558567C>T - - - CTNS_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - Germany - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - France - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Parent #1 - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 unknown variant 2nd chromosome PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - Romania - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Parent #1 - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 unknown variant 2nd chromosome PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - - Scandinavia - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Parent #1 - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 unknown variant 2nd chromosome PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 cell line PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - - - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0003 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - United Kingdom (Great Britain) Ireland - - - - 1 LOVD
+/? 7 c.414G>A r.(?) p.(Trp138*) Both (homozygous) - pathogenic g.3558599G>A g.3655305G>A 753G>A - CTNS_000019 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998, OMIM:var0003 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - United Kingdom (Great Britain) Eire - - - - 1 LOVD
-?/. - c.444G>A r.(?) p.(Met148Ile) Unknown - likely benign g.3558629G>A - CTNS(NM_001374493.1):c.3G>A (p.(Met1?)), CTNS(NM_004937.3):c.444G>A (p.M148I) - CTNS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.444G>A r.(?) p.(Met148Ile) Unknown - VUS g.3558629G>A - CTNS(NM_001374493.1):c.3G>A (p.(Met1?)), CTNS(NM_004937.3):c.444G>A (p.M148I) - CTNS_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.461+10del r.(=) p.(=) Unknown - likely benign g.3558656del - CTNS(NM_004937.3):c.461+10delT - CTNS_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.462T>C r.(?) p.(Ser154=) Unknown - benign g.3559781T>C g.3656487T>C - - CTNS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504G>A r.(?) p.(Thr168=) Unknown - benign g.3559823G>A g.3656529G>A CTNS(NM_004937.3):c.504G>A (p.T168=) - CTNS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.504G>A r.(?) p.(Thr168=) Unknown - benign g.3559823G>A g.3656529G>A CTNS(NM_004937.3):c.504G>A (p.T168=) - CTNS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 8 c.504G>A r.(?) p.(=) Unknown - benign g.3559823G>A g.3656529G>A 843A>G - CTNS_000021 - PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+/? 8 c.506G>A r.(?) p.(Gly169Asp) Both (homozygous) - pathogenic g.3559825G>A g.3656531G>A 845G>A - CTNS_000032 could carry 65 Kb deletion; RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - France;Sweden - - - - 1 LOVD
+/? 8 c.519_520del r.(?) p.(Tyr173*) Both (homozygous) - pathogenic g.3559838_3559839del g.3656544_3656545del 857delAC - CTNS_000039 this chromosome might contain 65 Kb deletion PubMed: Town et al. 1998 - - Unknown - - - - - DNA SEQ, SSCA - - CTNS - - - - - France - - - - - 1 LOVD
+/? 8 c.544T>C r.(?) p.(Trp182Arg) Parent #1 - pathogenic g.3559863T>C g.3656569T>C 883T>C - CTNS_000033 RNA on Northern blot PubMed: Shotelersuk et al. 1998 - - Unknown - - - - - DNA SSCA, SEQ - - CTNS - - - - - - (Austria;Switzerland);(Denmark;Ireland) - - - - 1 LOVD
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