Full data view for gene WISP3

NOTE: gene name changed from WISP3 to CCN6
Information The variants shown are described using the transcript reference sequence.

222 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

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.1A>G r.(?) p.(Met1?) Unknown - VUS g.112375561A>G g.112054358A>G WISP3(NM_003880.3):c.1A>G (p.M1?) - WISP3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.43_44del r.(?) p.(Ala15Thrfs*17) Parent #2 - pathogenic (recessive) g.112375603_112375604del g.112054400_112054401del 43delGC - WISP3_000010 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam11 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no United States - - - - - 1 Johan den Dunnen
+/. - c.48+2dup r.spl? p.? Both (homozygous) - pathogenic (recessive) g.112375610dup g.112054407dup insT+2IVS1 - WISP3_000008 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam8 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - 1 Johan den Dunnen
+/. - c.48+2dup r.spl p.? Both (homozygous) - pathogenic (recessive) g.112375610dup g.112054407dup c.48+2dupT - WISP3_000008 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat1 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Morocco - - - - - 2 Johan den Dunnen
+/. - c.49-763G>T r.48_49ins49-749_49-618 p.Phe17Asnfs*42 Parent #2 - pathogenic (recessive) g.112381431G>T g.112060228G>T - - WISP3_000038 variant generates branch point, activating a pseudo exon PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat48 PubMed: Garcia Segarra 2012 patient - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.49-1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.112382193G>A g.112060990G>A - - WISP3_000017 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam28 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
-?/. - c.77C>T r.(?) p.(Pro26Leu) Unknown - likely benign g.112382222C>T - WISP3(NM_003880.3):c.77C>T (p.(Pro26Leu)) - WISP3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91C>A r.(?) p.(Pro31Thr) Unknown - likely benign g.112382236C>A - WISP3(NM_003880.3):c.91C>A (p.(Pro31Thr)) - WISP3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.156C>A r.(?) p.(Cys52Ter) Unknown - pathogenic g.112382301C>A g.112061098C>A CCN6(NM_198239.2):c.156C>A (p.C52*) - WISP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 no variant 2nd allele identified PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam2;Pat37 PubMed: Hurvitz 1999, {PMID:Garcia Segarra 2012:22791401 family, unaffected heterozygous carrier parents - no Italy - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys145Tyr) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam3 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no France - - - - - 1 Johan den Dunnen
+/. 3 c.156C>A r.(?) p.(Cys52*) Parent #2 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline yes - - - - DNA SEQ - - PPRD Fam3 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam5 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam11 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam12 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam20 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam22 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam24 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam25 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam32 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam34 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam38 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam51 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat22 PubMed: Dalal 2012 - M no India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat32 PubMed: Dalal 2012 - M no India - - - - no response to anti inflammatory drugs 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat3 PubMed: Dalal 2012 Brother of P4 M yes India - - - - - 2 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52*) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat4 PubMed: Dalal 2012 Brother of P3 M yes India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat2 PubMed: Garcia Segarra 2012 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat3 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat4 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat5 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat6 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat7 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat8 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat9 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat10 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat11 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat12 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat13 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat14 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat15 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat16 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat17 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat18 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat19 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat38 PubMed: Garcia Segarra 2012 patient - - Italy - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.156c>a p.Cys52Ter Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat48 PubMed: Garcia Segarra 2012 patient - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.156c>a p.Cys52Ter Parent #1 - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - PPRD Pat49 PubMed: Garcia Segarra 2012 patient - - Germany - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam2 PubMed: Delague 2005 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Syria - - - - - 4 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam3 PubMed: Delague 2005 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Lebanon - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam4 PubMed: Delague 2005 4-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Lebanon - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam5 PubMed: Delague 2005 5-generation family, 2 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Syria - - - - - 2 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam6 PubMed: Delague 2005 4-generation family, 4 affected sisters (2F), unaffected heterozygous carrier parents/relatives F yes Syria - - - - - 4 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam7 PubMed: Delague 2005 5-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Palestine Bedouin - - - - 3 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Both (homozygous) - pathogenic (recessive) g.112382301C>A g.112061098C>A - - WISP3_000002 - PubMed: Delague 2005 - - Germline - - - - - DNA SEQ - - PPRD Fam8 PubMed: Delague 2005 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Lebanon - - - - - 1 Johan den Dunnen
+/. - c.156C>A r.(?) p.(Cys52Ter) Unknown - pathogenic g.112382301C>A - CCN6(NM_198239.2):c.156C>A (p.C52*) - WISP3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.168G>T r.(?) p.(Gln56His) Unknown - benign g.112382313G>T g.112061110G>T CCN6(NM_198239.2):c.168G>T (p.Q56H) - WISP3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168G>T r.(?) p.(Gln56His) Unknown - likely benign g.112382313G>T g.112061110G>T - - WISP3_000003 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam11 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no United States - - - - - 1 Johan den Dunnen
-?/. - c.168G>T r.(?) p.(Gln56His) Unknown - likely benign g.112382313G>T g.112061110G>T - - WISP3_000003 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam6 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
-?/. - c.179G>A r.(?) p.(Arg60His) Unknown - likely benign g.112382324G>A - CCN6(NM_198239.2):c.179G>A (p.(Arg60His)) - WISP3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.182G>T r.(?) p.(Cys61Phe) Both (homozygous) - pathogenic (recessive) g.112382327G>T g.112061124G>T - - WISP3_000039 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat20 PubMed: Garcia Segarra 2012 patient - - Poland - - - - - 1 Johan den Dunnen
+/. - c.182G>T r.(?) p.(Cys61Phe) Parent #1 - pathogenic (recessive) g.112382327G>T g.112061124G>T - - WISP3_000039 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat39 PubMed: Garcia Segarra 2012 patient - - Poland - - - - - 1 Johan den Dunnen
+/. - c.185del r.(?) p.(Pro62LeufsTer4) Both (homozygous) - pathogenic (recessive) g.112382330del g.112061127del c.185delC - WISP3_000040 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat21 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
+/. - c.185del r.(?) p.(Pro62LeufsTer4) Both (homozygous) - pathogenic (recessive) g.112382330del g.112061127del c.185delC - WISP3_000040 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat22 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.197G>A r.(?) p.(Ser66Asn) Parent #1 - pathogenic (recessive) g.112382342G>A g.112061139G>A - - WISP3_000041 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat40 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - United States - - - - - 2 Johan den Dunnen
+/. - c.197G>A r.(?) p.(Ser66Asn) Parent #1 - pathogenic (recessive) g.112382342G>A g.112061139G>A - - WISP3_000041 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat41 PubMed: Garcia Segarra 2012 patient - - Italy - - - - - 1 Johan den Dunnen
+/. - c.232T>C r.(?) p.(Cys78Arg) Parent #2 - pathogenic (recessive) g.112382377T>C g.112061174T>C - - WISP3_000006 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam3 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no France - - - - - 1 Johan den Dunnen
+/. - c.233G>A r.(?) p.(Cys78Tyr) Parent #1 - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam1 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam2 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam8 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam13 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam19 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam31 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam33 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam39 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam40 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam49 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam50 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam53 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Bhavani 2015 - - Germline - - - - - DNA SEQ - - PPRD Fam54 PubMed: Bhavani 2015 - - - India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat1 PubMed: Dalal 2012 - F no India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat23 PubMed: Dalal 2012 - F no India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Fam19Pat26 PubMed: Dalal 2012 Brother of P27 M yes India - - - - no response to anti inflammatory drugs 2 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Fam19Pat27 PubMed: Dalal 2012 Brother of P26 M yes India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.233G>A r.(?) p.(Cys78Tyr) Both (homozygous) - pathogenic (recessive) g.112382378G>A g.112061175G>A - - WISP3_000018 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat33 PubMed: Dalal 2012 - M no India - - - - - 1 Gandham SriLakshmi Bhavani
+/. - c.236_237delinsAA r.(?) p.(Ala79Glu) Parent #2 - pathogenic (recessive) g.112382381_112382382delinsAA g.112061178_112061179delinsAA 236-237CC >AA - WISP3_000037 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Fam2;Pat37 PubMed: Hurvitz 1999, {PMID:Garcia Segarra 2012:22791401 family, unaffected heterozygous carrier parents - no Italy - - - - - 1 Johan den Dunnen
+/. - c.246del r.(?) p.(Glu84Lysfs*21) Both (homozygous) - pathogenic (recessive) g.112382391del g.112061188del 246delA - WISP3_000007 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam4 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.246del r.(?) p.(Glu84Lysfs*21) Both (homozygous) - pathogenic (recessive) g.112382391del g.112061188del 246delA - WISP3_000007 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam5 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.246del r.(?) p.(Glu84Lysfs*21) Both (homozygous) - pathogenic (recessive) g.112382391del g.112061188del 246delA - WISP3_000007 - PubMed: Hurvitz 1999 - - Germline - - - - - DNA SEQ - - PPRD Fam9 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - 1 Johan den Dunnen
+/. - c.246del r.(?) p.(Glu84Lysfs*21) Both (homozygous) - pathogenic (recessive) g.112382391del g.112061188del NM_003880.3:c.246delA:p.(Glu84Lysfs*21) - WISP3_000007 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG1610 , 12DG1651 , 12DG1652 PubMed: Maddirevula 2018 family, 3 affected (2F, M) F;M yes - Arab - - - - 3 LOVD
+/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - pathogenic (recessive) g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat3 PubMed: Dalal 2012 Brother of P4 M yes India - - - - - 2 Gandham SriLakshmi Bhavani
+/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - pathogenic (recessive) g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Dalal 2012 - - Germline - - - - - DNA SEQ - - PPRD Fam3Pat4 PubMed: Dalal 2012 Brother of P3 M yes India - - - - - 1 Gandham SriLakshmi Bhavani
-?/. - c.248G>A r.(?) p.(Gly83Glu) Unknown - likely benign g.112382393G>A - WISP3(NM_003880.3):c.248G>A (p.(Gly83Glu)) - WISP3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat2 PubMed: Garcia Segarra 2012 patient - - - - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat3 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Italy - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat4 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat5 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat6 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat7 PubMed: Garcia Segarra 2012 patient - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.248G>A r.(?) p.(Gly83Glu) Both (homozygous) - benign g.112382393G>A g.112061190G>A - - WISP3_000019 - PubMed: Garcia Segarra 2012 - - Germline - - - - - DNA SEQ - - PPRD Pat8 PubMed: Garcia Segarra 2012 family, 2 affected sibs - - Turkey - - - - - 2 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.