Unique variants in the PTCHD1 gene

Information The variants shown are described using the NM_173495.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

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     

Owner     
+?/. 1 _1_3_ c.-23906_*6987del - r.0 p.0 - likely pathogenic g.23329087_23419289del g.23310970_23401172del hg18 chrX:g.23239008_23329210del - PTCHD1_000006 not in 447 controls PubMed: Wibley 2010 - - Germline yes - - - - Johan den Dunnen
+/. 1 _1 c.-98_-72dup - r.(=) p.(=) - pathogenic g.23352895_23352921dup g.23334778_23334804dup 23352883_23352909dup - PTCHD1_000007 promotor variant; not in 250 controls PubMed: Torrico 2015 - - Germline ? 3/240 patients - - - Bru Cormand
-?/. 1 - c.-88_-56= GCC[11] r.(=) p.(=) - likely benign g.23352905_23352937= - GCC[11] - PTCHD1_000054 previously undescribed microsatellite 5' gene PubMed: Torrico 2015 - - Germline - 234/240 ASD cases, 573/585 controls - - - Johan den Dunnen
+?/. 1 _1 c.-64_-56dup GCC[14] r.(=) p.(=) - association g.23352929_23352937dup - GCC[14] - PTCHD1_000057 previously undescribed microsatellite 5' gene; associated with ASD phenotype PubMed: Torrico 2015 - - Germline - 5/240 ASD cases, 1/585 controls - - - Johan den Dunnen
-?/. 1 _1 c.-61_-56dup GCC[13] r.(=) p.(=) - likely benign g.23352932_23352937dup - GCC[13] - PTCHD1_000056 previously undescribed microsatellite 5' gene PubMed: Torrico 2015 - - Germline - 2/240 ASD cases, 13/585 controls - - - Johan den Dunnen
-?/. 1 - c.-58_-56del GCC[10] r.(=) p.(=) - likely benign g.23352935_23352937del - GCC[10] - PTCHD1_000053 previously undescribed microsatellite 5' gene PubMed: Torrico 2015 - - Germline - 1/240 ASD cases, 5/585 controls - - - Johan den Dunnen
-?/. 1 _1 c.-58_-56dup GCC[12] r.(=) p.(=) - likely benign g.23352935_23352937dup - GCC[12] - PTCHD1_000055 - PubMed: Torrico 2015 - - Germline - 22/240 ASD cases, 54/585 controls - - - Johan den Dunnen
?/. 1 _1 c.-55C>G - r.(=) p.(=) - VUS g.23352938C>G g.23334821C>G - - PTCHD1_000008 promotor variant; not in 250 controls PubMed: Torrico 2015 - - Germline ? 1/240 patients - - - Bru Cormand
+/. 7 _1_1i c.(?_-1)_(351+1_352-1)del - r.0 p.0 - pathogenic g.(?_22395639)_(23358413_?)del, g.(?_22561238)_(23362476_?)del, g.(?_22686771)_(23354655_?)del, 2 more items - - - PTCHD1_000018 146 kb deletion, 167 kb deletion, 643 kb deletion, 801 kb deletion, 963 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - - - Johan den Dunnen
+/. 10 _1_6_ c.(?_-1)_(*1_?)del - r.0 p.0 - pathogenic g.(?_22960743)_(23463337_?)del, g.(?_23110934)_(23411163_?)del, g.(?_23164422)_(23576232_?)del, 4 more items - - - PTCHD1_000019 197 kb deletion, 273 kb deletion, 300 kb deletion, 329 kb deletion, 412 kb deletion, 503 kb deletion, 1 more item PubMed: Chaudhry 2015, Journal: Chaudhry 2015, 1 more item - - De novo, Germline - - - - - Johan den Dunnen
+/. 1 1i_6_ c.(c.351+1_352-1)_(*1_?)del - r.? p.? - pathogenic g.(?_23364923)_(23411134_?)del - - - PTCHD1_000017 46 kb deletion PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline - - - - - Johan den Dunnen
-?/. 2 1 c.93G>A - r.(?) p.(=) - likely benign g.23353085G>A g.23334968G>A - - PTCHD1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 1 c.152G>A - r.(?) p.(Ser51Asn) - VUS g.23353144G>A g.23335027G>A - - PTCHD1_000012 not in 250 controls PubMed: Torrico 2015 - - Unknown ? 1/183 patients - - - Bru Cormand
-?/. 1 - c.294C>T - r.(?) p.(Val98=) - likely benign g.23353286C>T - PTCHD1(NM_173495.2):c.294C>T (p.V98=) - PTCHD1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.304C>T - r.(?) p.(Gln102Ter) - likely pathogenic g.23353296C>T g.23335179C>T PTCHD1(NM_173495.2):c.304C>T (p.Q102*) - PTCHD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.336C>T - r.(?) p.(Thr112=) - likely benign g.23353328C>T g.23335211C>T PTCHD1(NM_173495.2):c.336C>T (p.T112=) - PTCHD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 1i c.351+340C>G - r.(?) p.(=) - likely benign g.23353683C>G g.23335566C>G - - PTCHD1_000010 - - - - Germline - - - - - Yu Sun
-?/. 1 1i c.352-297C>T - r.(?) p.(=) - likely benign g.23397411C>T g.23379294C>T - - PTCHD1_000011 - - - - Germline - - - - - Yu Sun
?/. 2 1i c.352-4A>C - r.(?) p.(=) - VUS g.23397704A>C g.23379587A>C - - PTCHD1_000009 Found once (in a male) in 250 controls PubMed: Torrico 2015 - - Germline -, ? 1/240 patients, 1/250 controls - - - Bru Cormand
?/. 1 - c.456C>A - r.(?) p.(Asp152Glu) - VUS g.23397812C>A - PTCHD1(NM_173495.2):c.456C>A (p.D152E) - PTCHD1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.458T>C - r.(?) p.(Ile153Thr) - VUS g.23397814T>C - PTCHD1(NM_173495.2):c.458T>C (p.I153T) - PTCHD1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.494C>T - r.(?) p.(Ala165Val) - likely benign, VUS g.23397850C>T g.23379733C>T PTCHD1(NM_173495.2):c.494C>T (p.A165V, p.(Ala165Val)) - PTCHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.500A>G - r.(?) p.(Asn167Ser) - VUS g.23397856A>G g.23379739A>G PTCHD1(NM_173495.2):c.500A>G (p.N167S) - PTCHD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 2 - c.517A>G - r.(?) p.(Ile173Val) - benign, VUS g.23397873A>G g.23379756A>G PTCHD1(NM_173495.2):c.517A>G (p.I173V) - PTCHD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 - c.525C>A - r.(?) p.(Tyr175*) ACMG likely pathogenic (recessive) g.23397881C>A - - - PTCHD1_000052 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
+/. 1 - c.542A>C - r.(?) p.(Lys181Thr) - pathogenic g.23397898A>C g.23379781A>C NM_173495: c.A542C; p.K181T - PTCHD1_000021 - PubMed: Karaca 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.563A>G - r.(?) p.(Asn188Ser) - likely benign g.23397919A>G g.23379802A>G PTCHD1(NM_173495.2):c.563A>G (p.N188S) - PTCHD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.604C>T - r.(?) p.(Arg202Trp) - likely benign g.23397960C>T g.23379843C>T PTCHD1(NM_173495.2):c.604C>T (p.R202W) - PTCHD1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.657C>T - r.(?) p.(Asn219=) - likely benign g.23398013C>T - PTCHD1(NM_173495.2):c.657C>T (p.N219=) - PTCHD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.673G>C - r.(?) p.(Val225Leu) - VUS g.23398029G>C - PTCHD1(NM_173495.2):c.673G>C (p.V225L) - PTCHD1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 2 c.690G>A - r.(=) p.(=) - likely benign g.23398046G>A g.23379929G>A - - PTCHD1_000004 not in 250 controls PubMed: Torrico 2015 - - Unknown ? 1/240 patients - - - Bru Cormand
-?/. 1 - c.801A>C - r.(?) p.(Val267=) - likely benign g.23398157A>C - PTCHD1(NM_173495.2):c.801A>C (p.V267=) - PTCHD1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.831T>G - r.(?) p.(Ile277Met) - VUS g.23398187T>G - PTCHD1(NM_173495.2):c.831T>G (p.I277M) - PTCHD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.858T>C - r.(?) p.(Cys286=) - benign g.23398214T>C g.23380097T>C - - PTCHD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.861C>A - r.(?) p.(Cys287Ter) - likely pathogenic g.23398217C>A g.23380100C>A PTCHD1(NM_173495.2):c.861C>A (p.C287*) - PTCHD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.907G>A - r.(?) p.(Gly303Arg) - likely pathogenic g.23398263G>A - PTCHD1(NM_173495.2):c.907G>A (p.G303R) - PTCHD1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1012+5T>C - r.spl? p.? - benign, likely benign g.23398373T>C g.23380256T>C PTCHD1(NM_173495.2):c.1012+5T>C (p.?, ) - PTCHD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1080T>G - r.(?) p.(Val360=) - likely benign g.23410715T>G g.23392598T>G PTCHD1(NM_173495.2):c.1080T>G (p.V360=) - PTCHD1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1423G>T - r.(?) p.(Ala475Ser) - VUS g.23411058G>T g.23392941G>T PTCHD1(NM_173495.2):c.1423G>T (p.A475S) - PTCHD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.1444del - r.(?) p.(Leu482Tyrfs*14) - pathogenic g.23411079del g.23392962del 2341107&_23411077delACinsA - PTCHD1_000013 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015, PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1473C>T - r.(?) p.(Tyr491=) - likely benign g.23411108C>T - PTCHD1(NM_173495.2):c.1473C>T (p.Y491=) - PTCHD1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1555T>A - r.(?) p.(Tyr519Asn) - VUS g.23411190T>A - PTCHD1(NM_173495.2):c.1555T>A (p.Y519N) - PTCHD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1628C>A - r.(?) p.(Thr543Asn) - likely benign g.23411263C>A - - - PTCHD1_000059 - PubMed: Philips 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1639_1652del - r.(?) p.(Lys547LeufsTer11) - pathogenic g.23411274_23411287del g.23393157_23393170del PTCHD1(NM_173495.2):c.1639_1652delAAGTACTTCAGCAA (p.K547Lfs*11) - PTCHD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.1691_1692del - r.(?) p.(Ile564Argfs*6) - likely pathogenic g.23411326_23411327del g.23393209_23393210del - - PTCHD1_000047 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.1786C>T - r.(?) p.(Arg596Trp) - VUS g.23411421C>T - PTCHD1(NM_173495.2):c.1786C>T (p.R596W) - PTCHD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1794_1806del - r.(?) p.(Asn599Alafs*11) - pathogenic g.23411429_23411441del g.23393312_23393324del 1794_1806delCAATGTATCCACT - PTCHD1_000020 - - - - Unknown - - - - - IMGAG
+/. 2 3 c.1796dup - r.(?) p.(Asn599Lysfs*8) - pathogenic g.23411431dup g.23393314dup 1796insA - PTCHD1_000016 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.2017G>C - r.(?) p.(Val673Leu) - likely benign g.23411652G>C g.23393535G>C PTCHD1(NM_173495.2):c.2017G>C (p.V673L) - PTCHD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 1 - c.2071C>T - r.(?) p.(Arg691*) - pathogenic g.23411706C>T g.23393589C>T - - PTCHD1_000014 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 2 3 c.2128del - r.(?) p.(Leu710Cysfs*13) - pathogenic g.23411763del g.23393646del L710Cfs*12 - PTCHD1_000015 - PubMed: Chaudhry 2015, Journal: Chaudhry 2015 - - Germline yes - - - - Johan den Dunnen, Pieter Klap
-?/. 1 - c.2603T>C - r.(?) p.(Ile868Thr) - likely benign g.23412238T>C g.23394121T>C PTCHD1(NM_173495.2):c.2603T>C (p.I868T) - PTCHD1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2629G>A - r.(?) p.(Asp877Asn) - VUS g.23412264G>A g.23394147G>A - - PTCHD1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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