MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Dwarfism (D004392)
Parent Node:
expand
Eye Diseases, Hereditary (D015785)
..Starting node
..expand
Weill-Marchesani-Like Syndrome (C567710)

       Child Nodes:



 Sister Nodes: 
..expandAchromatopsia 4 (C564206)
..expandAchromatopsia 5 (C567759)
..expandAcrootoocular Syndrome (C564866)
..expandAicardi Syndrome (D058540) Child1
..expandAlacrima (C562827)
..expandAlacrima, Congenital (C566307)
..expandAlbinism (D000417) Child30
..expandAniridia (D015783) Child10
..expandAtaxia-Microcephaly-Cataract Syndrome (C563086)
..expandATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
..expandATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
..expandAxenfeld-Rieger syndrome (C535679) Child3
..expandBasal Laminar Drusen (C563034)
..expandBestrophinopathy (C567518)
..expandBothnia Retinal Dystrophy (C564392)
..expandCataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..expandCataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..expandCataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..expandCataract, Floriform (C566160)
..expandCataract, Pulverulent (C563426)
..expandCavitary Optic Disc Anomalies (C566924)
..expandCholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
..expandChoroideremia (D015794) Child2
..expandColoboma (D003103) Child43
..expandCone Dystrophy (D000077765)
..expandCone-Rod Dystrophies (D000071700)
..expandCornea Plana 1 (C565158)
..expandCornea Plana 2 (C565677)
..expandCorneal Dystrophies, Hereditary (D003317) Child61
..expandCSNB1C (C567704)
..expandDrusen, Radial, Autosomal Dominant (C565088)
..expandDuane Retraction Syndrome (D004370) Child2
..expandEnhanced S-Cone Syndrome (C564835)
..expandFamilial Exudative Vitreoretinopathy (C580083)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 (OMIM:616219)
..expandFleck Retina, Familial Benign (C565564)
..expandFoveal Hypoplasia with Anterior Segment Anomalies (C565006)
..expandFoveal Hypoplasia, Isolated (C565005)
..expandGlaucoma 1, Open Angle, P (C566748)
..expandGraves Ophthalmopathy (D049970)
..expandGrouped Pigmentation of the Macula (C565530)
..expandGyrate Atrophy (D015799) Child1
..expandHistiocytic Dermatoarthritis (C564183)
..expandHyperopia, High (C565497)
..expandHypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..expandIris Pigment Epithelium Anomalies (C566651)
..expandJoubert Syndrome 8 (C567358)
..expandLeber Congenital Amaurosis (D057130) Child20
..expandMacular Dystrophy, X-Linked (C564110)
..expandMegalocornea (C562829)
..expandMicrocephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..expandMydriasis, Congenital (C563221)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..expandNight Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..expandOguchi disease (C537743)
..expandOmphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..expandOphthalmomandibulomelic Dysplasia (C563501)
..expandOptic Atrophies, Hereditary (D015418) Child30  LSDB C:5
..expandPeripapillary Atrophy, Beta Type (C566898)
..expandPersistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandProlonged Electroretinal Response Suppression (C564243)
..expandPseudopapilledema (C562401)
..expandRetinal Aplasia (C566720)
..expandRetinal Degeneration (D012162) Child195  LSDB C:2
..expandRetinal Dysplasia (D015792) Child2
..expandRetinal Dystrophy, Early Onset Severe (C565741)
..expandRetinitis Pigmentosa (D012174) Child132  LSDB C:2
..expandRetinoblastoma (D012175) Child2
..expandRetinohepatoendocrinologic Syndrome (C564839)
..expandRhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..expandSpondyloocular Syndrome, Autosomal Recessive (C565285)
..expandStickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
..expandVascular Hyalinosis (C564750)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandVitreoretinochoroidopathy (C536352)
..expandVitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..expandWalker-Warburg Syndrome (D058494) Child7
..expandWeill-Marchesani Syndrome (D056846)
..expandWeill-Marchesani-Like Syndrome (C567710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:12816
Name:Weill-Marchesani-Like Syndrome
Definition:
Alternative IDs:OMIM:613195
ParentIDs:MESH:D004392|MESH:D015785
TreeNumbers:C05.116.099.343/C567710 |C11.270/C567710 |C16.320.240/C567710 |C16.320.290/C567710 |C19.297/C567710
Synonyms:WEILL-MARCHESANI-LIKE SYNDROME |WEILL-MARCHESANI SYNDROME 4 |WMS4 |WMSL
Slim Mappings:Endocrine system disease|Eye disease|Genetic disease (inborn)|Musculoskeletal disease
Reference: MedGen: C567710
MeSH: C567710
OMIM: 613195;
MSeqDR LSDB:  
Genes: ADAMTS17;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001083Ectopia lentis
3 HP:0000501Glaucoma
4 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_139057.4(ADAMTS17):c.*2934G>T170691ADAMTS17Uncertain significance-1RCV001119688; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511673100511673CA15:g.100511673C>A-
NM_139057.4(ADAMTS17):c.*2878C>T170691ADAMTS17Uncertain significancers886050950RCV000329187; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511729100511729GA15:g.100511729G>AClinGen:CA10647612
NM_139057.4(ADAMTS17):c.*2790C>G170691ADAMTS17Uncertain significance-1RCV001119689; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511817100511817GC15:g.100511817G>C-
NM_139057.4(ADAMTS17):c.*2747T>G170691ADAMTS17Likely benign-1RCV001119690; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511860100511860AC15:g.100511860A>C-
NM_139057.4(ADAMTS17):c.*2738G>C170691ADAMTS17Uncertain significance-1RCV001119691; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511869100511869CG15:g.100511869C>G-
NM_139057.4(ADAMTS17):c.*2722G>A170691ADAMTS17Benignrs116467016RCV000383321; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511885100511885CT15:g.100511885C>TClinGen:CA10646813
NM_139057.4(ADAMTS17):c.*2701G>C170691ADAMTS17Benignrs13329612RCV000293669; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511906100511906CG15:g.100511906C>GClinGen:CA10646814
NM_139057.4(ADAMTS17):c.*2690G>A170691ADAMTS17Uncertain significancers566216613RCV000348611; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511917100511917CT15:g.100511917C>TClinGen:CA10636874
NM_139057.4(ADAMTS17):c.*2678T>G170691ADAMTS17Uncertain significance-1RCV001121671; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511929100511929AC15:g.100511929A>C-
NM_139057.4(ADAMTS17):c.*2652A>T170691ADAMTS17Uncertain significance-1RCV001121672; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511955100511955TA15:g.100511955T>A-
NM_139057.4(ADAMTS17):c.*2645C>T170691ADAMTS17Uncertain significancers114391483RCV000392024; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511962100511962GA15:g.100511962G>AClinGen:CA10636877
NM_139057.4(ADAMTS17):c.*2637C>G170691ADAMTS17Likely benign-1RCV001121673; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511970100511970GC15:g.100511970G>C-
NM_139057.4(ADAMTS17):c.*2626_*2628del170691ADAMTS17Uncertain significancers543559051RCV000294600; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511979100511981CTGGC15:g.100511979_100511981delClinGen:CA10642815
NM_139057.4(ADAMTS17):c.*2616G>A170691ADAMTS17Uncertain significance-1RCV001121674; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511991100511991CT15:g.100511991C>T-
NM_139057.4(ADAMTS17):c.*2605G>C170691ADAMTS17Likely benignrs191759654RCV000335517; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512002100512002CG15:g.100512002C>GClinGen:CA10642818
NM_139057.4(ADAMTS17):c.*2600C>T170691ADAMTS17Uncertain significance-1RCV001116799; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512007100512007GA15:g.100512007G>A-
NM_139057.4(ADAMTS17):c.*2598T>C170691ADAMTS17Uncertain significancers754478048RCV000391989; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512009100512009AG15:g.100512009A>GClinGen:CA10646818
NM_139057.4(ADAMTS17):c.*2578G>A170691ADAMTS17Benignrs183671964RCV000300415; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512029100512029CT15:g.100512029C>TClinGen:CA10647615
NM_139057.4(ADAMTS17):c.*2560T>C170691ADAMTS17Benignrs10468183RCV000355713; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512047100512047AG15:g.100512047A>GClinGen:CA10647618
NM_139057.4(ADAMTS17):c.*2541A>G170691ADAMTS17Benignrs8041971RCV000403155; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512066100512066TC15:g.100512066T>CClinGen:CA10646819
NM_139057.4(ADAMTS17):c.*2532G>A170691ADAMTS17Uncertain significancers886050951RCV000302089; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512075100512075CT15:g.100512075C>TClinGen:CA10636878
NM_139057.4(ADAMTS17):c.*2528T>C170691ADAMTS17Benignrs8037666RCV000361448; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512079100512079AG15:g.100512079A>GClinGen:CA10636879
NM_139057.4(ADAMTS17):c.*2511A>G170691ADAMTS17Uncertain significancers145561763RCV000266599; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512096100512096TC15:g.100512096T>CClinGen:CA10646822
NM_139057.4(ADAMTS17):c.*2501C>T170691ADAMTS17Uncertain significance-1RCV001118253; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512106100512106GA15:g.100512106G>A-
NM_139057.4(ADAMTS17):c.*2480G>A170691ADAMTS17Uncertain significance-1RCV001118254; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512127100512127CT15:g.100512127C>T-
NM_139057.4(ADAMTS17):c.*2479C>G170691ADAMTS17Uncertain significancers540696412RCV000326412; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512128100512128GC15:g.100512128G>CClinGen:CA10646824
NM_139057.4(ADAMTS17):c.*2472C>T170691ADAMTS17Uncertain significancers138099553RCV000362491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512135100512135GA15:g.100512135G>AClinGen:CA10636880
NM_139057.4(ADAMTS17):c.*2472C>G170691ADAMTS17Uncertain significance-1RCV001118255; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512135100512135GC15:g.100512135G>C-
NM_139057.4(ADAMTS17):c.*2453C>T170691ADAMTS17Benign-1RCV001118256; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512154100512154GA15:g.100512154G>A-
NM_139057.4(ADAMTS17):c.*2429G>A170691ADAMTS17Uncertain significancers886050952RCV000272633; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512178100512178CT15:g.100512178C>TClinGen:CA10647621
NM_139057.4(ADAMTS17):c.*2425G>A170691ADAMTS17Uncertain significance-1RCV001118257; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512182100512182CT15:g.100512182C>T-
NM_139057.4(ADAMTS17):c.*2422C>T170691ADAMTS17Uncertain significance-1RCV001119790; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512185100512185GA15:g.100512185G>A-
NM_139057.4(ADAMTS17):c.*2379C>T170691ADAMTS17Uncertain significancers182417427RCV000331459; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512228100512228GA15:g.100512228G>AClinGen:CA10636881
NM_139057.4(ADAMTS17):c.*2355G>C170691ADAMTS17Uncertain significancers564194386RCV000385950; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512252100512252CG15:g.100512252C>GClinGen:CA10646832
NM_139057.4(ADAMTS17):c.*2354C>G170691ADAMTS17Likely benignrs8036076RCV000332563; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512253100512253GC15:g.100512253G>CClinGen:CA10642820
NM_139057.4(ADAMTS17):c.*2354C>T170691ADAMTS17Benignrs8036076RCV000277464; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512253100512253GA15:g.100512253G>AClinGen:CA10646836
NM_139057.4(ADAMTS17):c.*2352C>G170691ADAMTS17Benignrs138578029RCV000373379; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512255100512255GC15:g.100512255G>CClinGen:CA10646838
NM_139057.4(ADAMTS17):c.*2329T>C170691ADAMTS17Uncertain significancers886050953RCV000278777; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512278100512278AG15:g.100512278A>GClinGen:CA10636882
NM_139057.4(ADAMTS17):c.*2324G>A170691ADAMTS17Benignrs8041395RCV000338619; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512283100512283CT15:g.100512283C>TClinGen:CA10636883
NM_139057.4(ADAMTS17):c.*2316C>G170691ADAMTS17Uncertain significancers886050954RCV000374538; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512291100512291GC15:g.100512291G>CClinGen:CA10647624
NM_139057.4(ADAMTS17):c.*2313T>C170691ADAMTS17Likely benignrs562633764RCV000284791; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512294100512294AG15:g.100512294A>GClinGen:CA10642821
NM_139057.4(ADAMTS17):c.*2305T>C170691ADAMTS17Uncertain significance-1RCV001121774; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512302100512302AG15:g.100512302A>G-
NM_139057.4(ADAMTS17):c.*2292C>T170691ADAMTS17Uncertain significance-1RCV001121775; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512315100512315GA15:g.100512315G>A-
NM_139057.4(ADAMTS17):c.*2291G>A170691ADAMTS17Uncertain significancers750700990RCV000339832; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512316100512316CT15:g.100512316C>TClinGen:CA10646839
NM_139057.4(ADAMTS17):c.*2290C>T170691ADAMTS17Uncertain significance-1RCV001121776; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512317100512317GA15:g.100512317G>A-
NM_139057.4(ADAMTS17):c.*2289A>G170691ADAMTS17Uncertain significance-1RCV001121777; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512318100512318TC15:g.100512318T>C-
NM_139057.4(ADAMTS17):c.*2283A>G170691ADAMTS17Benignrs8025962RCV000391707; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512324100512324TC15:g.100512324T>CClinGen:CA10646840
NM_139057.4(ADAMTS17):c.*2279G>A170691ADAMTS17Uncertain significancers529729790RCV000304057; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512328100512328CT15:g.100512328C>TClinGen:CA10646841
NM_139057.4(ADAMTS17):c.*2275A>G170691ADAMTS17Uncertain significance-1RCV001115210; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512332100512332TC15:g.100512332T>C-
NM_139057.4(ADAMTS17):c.*2234G>C170691ADAMTS17Uncertain significance-1RCV001115211; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512373100512373CG15:g.100512373C>G-
NM_139057.4(ADAMTS17):c.*2228G>C170691ADAMTS17Likely benign-1RCV001115212; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512379100512379CG15:g.100512379C>G-
NM_139057.4(ADAMTS17):c.*2227G>A170691ADAMTS17Benignrs8041553RCV000344863; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512380100512380CT15:g.100512380C>TClinGen:CA10647626
NM_139057.4(ADAMTS17):c.*2220G>A170691ADAMTS17Uncertain significance-1RCV001115213; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512387100512387CT15:g.100512387C>T-
NM_139057.4(ADAMTS17):c.*2196C>T170691ADAMTS17Uncertain significance-1RCV001115214; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512411100512411GA15:g.100512411G>A-
NM_139057.4(ADAMTS17):c.*2193G>C170691ADAMTS17Uncertain significancers886050955RCV000405712; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512414100512414CG15:g.100512414C>GClinGen:CA10636885
NM_139057.4(ADAMTS17):c.*2186T>C170691ADAMTS17Uncertain significance-1RCV001118354; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512421100512421AG15:g.100512421A>G-
NM_139057.4(ADAMTS17):c.*2185G>C170691ADAMTS17Uncertain significance-1RCV001118355; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512422100512422CG15:g.100512422C>G-
NM_139057.4(ADAMTS17):c.*2183G>A170691ADAMTS17Benignrs148789222RCV000309743; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512424100512424CT15:g.100512424C>TClinGen:CA10642825
NM_139057.4(ADAMTS17):c.*2172T>C170691ADAMTS17Uncertain significance-1RCV001118356; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512435100512435AG15:g.100512435A>G-
NM_139057.4(ADAMTS17):c.*2157_*2158AG[1]170691ADAMTS17Likely benignrs144918924RCV000364472; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512447100512448ACTA15:g.100512447_100512448delClinGen:CA10636889
NM_139057.4(ADAMTS17):c.*2142_*2144GTT[1]170691ADAMTS17Uncertain significancers886050956RCV000275579; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512460100512462AAACA15:g.100512460_100512462delClinGen:CA10647627
NM_139057.4(ADAMTS17):c.*2138C>T170691ADAMTS17Uncertain significancers185690662RCV000311916; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512469100512469GA15:g.100512469G>AClinGen:CA10646843
NM_139057.4(ADAMTS17):c.*2115C>A170691ADAMTS17Uncertain significance-1RCV001118357; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512492100512492GT15:g.100512492G>T-
NM_139057.4(ADAMTS17):c.*2079C>T170691ADAMTS17Benignrs75041141RCV000371372; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512528100512528GA15:g.100512528G>AClinGen:CA10646844
NM_139057.4(ADAMTS17):c.*2015T>C170691ADAMTS17Uncertain significance-1RCV001118358; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512592100512592AG15:g.100512592A>G-
NM_139057.4(ADAMTS17):c.*2013T>G170691ADAMTS17Benignrs2727194RCV000276824; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512594100512594AC15:g.100512594A>CClinGen:CA10636892
NM_139057.4(ADAMTS17):c.*2013T>A170691ADAMTS17Uncertain significance-1RCV001119894; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512594100512594AT15:g.100512594A>T-
NM_139057.4(ADAMTS17):c.*2012C>T170691ADAMTS17Benignrs190592619RCV000317674; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512595100512595GA15:g.100512595G>AClinGen:CA10647628
NM_139057.4(ADAMTS17):c.*2007G>A170691ADAMTS17Benignrs8041901RCV000372349; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512600100512600CT15:g.100512600C>TClinGen:CA10647632
NM_139057.4(ADAMTS17):c.*1992G>A170691ADAMTS17Benignrs114383018RCV000263810; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512615100512615CT15:g.100512615C>TClinGen:CA10647638
NM_139057.4(ADAMTS17):c.*1946G>T170691ADAMTS17Likely benignrs77749500RCV000318978; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512661100512661CA15:g.100512661C>AClinGen:CA10647642
NM_139057.4(ADAMTS17):c.*1944G>A170691ADAMTS17Benignrs116429760RCV000377909; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512663100512663CT15:g.100512663C>TClinGen:CA10647643
NM_139057.4(ADAMTS17):c.*1899del170691ADAMTS17Uncertain significancers138786481RCV000283424; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512708100512708ATA15:g.100512708_100512708delClinGen:CA10642827
NM_139057.4(ADAMTS17):c.*1859C>T170691ADAMTS17Benign-1RCV001119895; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512748100512748GA15:g.100512748G>A-
NM_139057.4(ADAMTS17):c.*1780G>A170691ADAMTS17Uncertain significancers886050957RCV000342992; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512827100512827CT15:g.100512827C>TClinGen:CA10636894
NM_139057.4(ADAMTS17):c.*1779T>C170691ADAMTS17Benignrs12440706RCV000378982; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512828100512828AG15:g.100512828A>GClinGen:CA10636895
NM_139057.4(ADAMTS17):c.*1774C>T170691ADAMTS17Benignrs74037056RCV000289368; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512833100512833GA15:g.100512833G>AClinGen:CA10636896
NM_139057.4(ADAMTS17):c.*1773G>T170691ADAMTS17Benignrs74037057RCV000344320; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512834100512834CA15:g.100512834C>AClinGen:CA10647644
NM_139057.4(ADAMTS17):c.*1766G>A170691ADAMTS17Uncertain significance-1RCV001121882; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512841100512841CT15:g.100512841C>T-
NM_139057.4(ADAMTS17):c.*1763C>T170691ADAMTS17Uncertain significancers550240800RCV000406765; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512844100512844GA15:g.100512844G>AClinGen:CA10647648
NM_139057.4(ADAMTS17):c.*1759G>C170691ADAMTS17Uncertain significancers539776359RCV000309411; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512848100512848CG15:g.100512848C>GClinGen:CA10646846
NM_139057.4(ADAMTS17):c.*1749G>A170691ADAMTS17Uncertain significancers757196506RCV000348528; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512858100512858CT15:g.100512858C>TClinGen:CA10636898
NM_139057.4(ADAMTS17):c.*1741A>T170691ADAMTS17Benignrs542106384RCV000406767; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512866100512866TA15:g.100512866T>AClinGen:CA10642831
NM_139057.4(ADAMTS17):c.*1729G>A170691ADAMTS17Benignrs58739070RCV000313431; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512878100512878CT15:g.100512878C>TClinGen:CA10646848
NM_139057.4(ADAMTS17):c.*1708G>C170691ADAMTS17Uncertain significance-1RCV001115306; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512899100512899CG15:g.100512899C>G-
NM_139057.4(ADAMTS17):c.*1706G>A170691ADAMTS17Benignrs117744474RCV000354199; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512901100512901CT15:g.100512901C>TClinGen:CA10647649
NM_139057.4(ADAMTS17):c.*1685G>A170691ADAMTS17Uncertain significance-1RCV001115307; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512922100512922CT15:g.100512922C>T-
NM_139057.4(ADAMTS17):c.*1684C>T170691ADAMTS17Uncertain significance-1RCV001115308; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512923100512923GA15:g.100512923G>A-
NM_139057.4(ADAMTS17):c.*1653C>G170691ADAMTS17Likely benignrs536677830RCV000259287; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512954100512954GC15:g.100512954G>CClinGen:CA10646849C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1642G>A170691ADAMTS17Uncertain significance-1RCV001115309; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512965100512965CT15:g.100512965C>T-
NM_139057.4(ADAMTS17):c.*1600C>T170691ADAMTS17Uncertain significancers185290147RCV000300483; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513007100513007GA15:g.100513007G>AClinGen:CA10636899
NM_139057.4(ADAMTS17):c.*1565G>C170691ADAMTS17Benign-1RCV001118462; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513042100513042CG15:g.100513042C>G-
NM_139057.4(ADAMTS17):c.*1546G>A170691ADAMTS17Likely benignrs149694490RCV000355215; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513061100513061CT15:g.100513061C>TClinGen:CA10646852C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1507G>A170691ADAMTS17Uncertain significance-1RCV001118463; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513100100513100CT15:g.100513100C>T-
NM_139057.4(ADAMTS17):c.*1490C>T170691ADAMTS17Benignrs2727195RCV000265201; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513117100513117GA15:g.100513117G>AClinGen:CA10646855C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1449G>A170691ADAMTS17Benignrs2573625RCV000320756; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513158100513158CT15:g.100513158C>TClinGen:CA10642833C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1448C>T170691ADAMTS17Uncertain significancers188903672RCV000361394; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513159100513159GA15:g.100513159G>AClinGen:CA10646859C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1431_*1433TCC[1]170691ADAMTS17Uncertain significancers757487035RCV000266827; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513171100513173GGGAG15:g.100513171_100513173delClinGen:CA10636900C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1419G>A170691ADAMTS17Benignrs75143725RCV000326635; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513188100513188CT15:g.100513188C>TClinGen:CA10647651C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1348dup170691ADAMTS17Uncertain significancers545574106RCV000381001; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513258100513259AAT15:g.100513258_100513259insTClinGen:CA10642835C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1315C>T170691ADAMTS17Likely benignrs185582795RCV000291496; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513292100513292GA15:g.100513292G>AClinGen:CA10642836C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1289T>G170691ADAMTS17Benignrs2581365RCV000327737; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513318100513318AC15:g.100513318A>CClinGen:CA10642839
NM_139057.4(ADAMTS17):c.*1288C>T170691ADAMTS17Uncertain significance-1RCV001119981; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513319100513319GA15:g.100513319G>A-
NM_139057.4(ADAMTS17):c.*1278A>G170691ADAMTS17Uncertain significance-1RCV001119982; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513329100513329TC15:g.100513329T>C-
NM_139057.4(ADAMTS17):c.*1244C>G170691ADAMTS17Likely benignrs561561821RCV000386891; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513363100513363GC15:g.100513363G>CClinGen:CA10642840
NM_139057.4(ADAMTS17):c.*1243C>T170691ADAMTS17Benignrs2581363RCV000292824; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513364100513364GA15:g.100513364G>AClinGen:CA10636905
NM_139057.4(ADAMTS17):c.*1227_*1230AAGG[1]170691ADAMTS17Benignrs10549565RCV000352425; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513373100513376ACCTTA15:g.100513373_100513376delClinGen:CA10647657
NM_139057.4(ADAMTS17):c.*1234G>A170691ADAMTS17Likely benign-1RCV001120281; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513373100513373CT15:g.100513373C>T-
NM_139057.4(ADAMTS17):c.*1218T>C170691ADAMTS17Uncertain significancers886050958RCV000401774; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513389100513389AG15:g.100513389A>GClinGen:CA10646862
NM_139057.4(ADAMTS17):c.*1213G>C170691ADAMTS17Uncertain significance-1RCV001120282; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513394100513394CG15:g.100513394C>G-
NM_139057.4(ADAMTS17):c.*1130C>T170691ADAMTS17Uncertain significancers377343119RCV000279860; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513477100513477GA15:g.100513477G>AClinGen:CA10642841
NM_139057.4(ADAMTS17):c.*1127C>T170691ADAMTS17Uncertain significance-1RCV001120283; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513480100513480GA15:g.100513480G>A-
NM_139057.4(ADAMTS17):c.*1083A>G170691ADAMTS17Benignrs2581362RCV000335044; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513524100513524TC15:g.100513524T>CClinGen:CA10647659
NM_139057.4(ADAMTS17):c.*1078G>A170691ADAMTS17Benignrs2727196RCV000392065; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513529100513529CT15:g.100513529C>TClinGen:CA10642848
NM_139057.4(ADAMTS17):c.*1065G>A170691ADAMTS17Uncertain significancers886050959RCV000300002; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513542100513542CT15:g.100513542C>TClinGen:CA10642849
NM_139057.4(ADAMTS17):c.*1054T>C170691ADAMTS17Uncertain significancers886050960RCV000359494; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513553100513553AG15:g.100513553A>GClinGen:CA10646865
NM_139057.4(ADAMTS17):c.*1024T>G170691ADAMTS17Uncertain significancers886050961RCV000402663; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513583100513583AC15:g.100513583A>CClinGen:CA10647661
NM_139057.4(ADAMTS17):c.*1014_*1019del170691ADAMTS17Conflicting interpretations of pathogenicityrs11277519RCV000268852; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513588100513593CTGGGCTC15:g.100513588_100513593delClinGen:CA10646867
NM_139057.4(ADAMTS17):c.*1011_*1016del170691ADAMTS17Uncertain significancers879713910RCV000326147; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513591100513596GGCTTGTG15:g.100513591_100513596delClinGen:CA10636907
NM_139057.4(ADAMTS17):c.*1016C>T170691ADAMTS17Uncertain significancers886050962RCV000364552; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513591100513591GA15:g.100513591G>AClinGen:CA10647662
NM_139057.4(ADAMTS17):c.*989G>A170691ADAMTS17Benignrs57279107RCV000272321; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513618100513618CT15:g.100513618C>TClinGen:CA10642850
NM_139057.4(ADAMTS17):c.*966G>T170691ADAMTS17Uncertain significancers886050963RCV000329692; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513641100513641CA15:g.100513641C>AClinGen:CA10636908
NM_139057.4(ADAMTS17):c.*963C>T170691ADAMTS17Uncertain significance-1RCV001115394; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513644100513644GA15:g.100513644G>A-
NM_139057.4(ADAMTS17):c.*960G>A170691ADAMTS17Likely benignrs180868548RCV000388707; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513647100513647CT15:g.100513647C>TClinGen:CA10636909
NM_139057.4(ADAMTS17):c.*959C>T170691ADAMTS17Likely benign-1RCV001118544; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513648100513648GA15:g.100513648G>A-
NM_139057.4(ADAMTS17):c.*901G>A170691ADAMTS17Uncertain significance-1RCV001118545; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513706100513706CT15:g.100513706C>T-
NM_139057.4(ADAMTS17):c.*900T>C170691ADAMTS17Benignrs2581359RCV000296719; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513707100513707AG15:g.100513707A>GClinGen:CA10647664
NM_139057.4(ADAMTS17):c.*885A>G170691ADAMTS17Benignrs2727198RCV000316730; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513722100513722TC15:g.100513722T>CClinGen:CA10646871
NM_139057.4(ADAMTS17):c.*882G>C170691ADAMTS17Benignrs2581358RCV000281535; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513725100513725CG15:g.100513725C>GClinGen:CA10642852
NM_139057.4(ADAMTS17):c.*882G>T170691ADAMTS17Likely benignrs2581358RCV000373722; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513725100513725CA15:g.100513725C>AClinGen:CA10646872
NM_139057.4(ADAMTS17):c.*880C>T170691ADAMTS17Likely benign-1RCV001120073; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513727100513727GA15:g.100513727G>A-
NM_139057.4(ADAMTS17):c.*857G>A170691ADAMTS17Uncertain significance-1RCV001120074; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513750100513750CT15:g.100513750C>T-
NM_139057.4(ADAMTS17):c.*856C>T170691ADAMTS17Uncertain significancers549608045RCV000338877; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513751100513751GA15:g.100513751G>AClinGen:CA10647667
NM_139057.4(ADAMTS17):c.*850C>T170691ADAMTS17Uncertain significancers886050964RCV000400189; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513757100513757GA15:g.100513757G>AClinGen:CA10642854
NM_139057.4(ADAMTS17):c.*805G>A170691ADAMTS17Uncertain significance-1RCV001120075; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513802100513802CT15:g.100513802C>T-
NM_139057.4(ADAMTS17):c.*802G>A170691ADAMTS17Uncertain significancers571008658RCV000285003; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513805100513805CT15:g.100513805C>TClinGen:CA10642855
NM_139057.4(ADAMTS17):c.*743G>A170691ADAMTS17Benignrs74036641RCV000341908; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513864100513864CT15:g.100513864C>TClinGen:CA10646873
NM_139057.4(ADAMTS17):c.*742C>T170691ADAMTS17Uncertain significancers555201429RCV000391160; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513865100513865GA15:g.100513865G>AClinGen:CA10646874
NM_139057.4(ADAMTS17):c.*700G>A170691ADAMTS17Benignrs60022871RCV000306947; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513907100513907CT15:g.100513907C>TClinGen:CA10647668
NM_139057.4(ADAMTS17):c.*692G>C170691ADAMTS17Benignrs187035332RCV000363919; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513915100513915CG15:g.100513915C>GClinGen:CA10642856
NM_139057.4(ADAMTS17):c.*671C>T170691ADAMTS17Benignrs76681073RCV000391158; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513936100513936GA15:g.100513936G>AClinGen:CA10642859
NM_139057.4(ADAMTS17):c.*639G>A170691ADAMTS17Uncertain significancers886050965RCV000310500; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513968100513968CT15:g.100513968C>TClinGen:CA10646875
NM_139057.4(ADAMTS17):c.*620T>C170691ADAMTS17Uncertain significance-1RCV001120383; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513987100513987AG15:g.100513987A>G-
NM_139057.4(ADAMTS17):c.*612G>T170691ADAMTS17Uncertain significancers574728895RCV000367558; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513995100513995CA15:g.100513995C>AClinGen:CA10636910
NM_139057.4(ADAMTS17):c.*611C>T170691ADAMTS17Uncertain significance-1RCV001115489; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513996100513996GA15:g.100513996G>A-
NM_139057.4(ADAMTS17):c.*572T>C170691ADAMTS17Uncertain significance-1RCV001115490; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514035100514035AG15:g.100514035A>G-
NM_139057.4(ADAMTS17):c.*567G>C170691ADAMTS17Benignrs2573649RCV000275389; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514040100514040CG15:g.100514040C>GClinGen:CA10636911
NM_139057.4(ADAMTS17):c.*567G>A170691ADAMTS17Benign-1RCV001115491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514040100514040CT15:g.100514040C>T-
NM_139057.4(ADAMTS17):c.*544G>A170691ADAMTS17Benignrs2581348RCV000313490; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514063100514063CT15:g.100514063C>TClinGen:CA10647669
NM_139057.4(ADAMTS17):c.*519T>C170691ADAMTS17Uncertain significancers886050966RCV000370456; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514088100514088AG15:g.100514088A>GClinGen:CA10646885
NM_139057.4(ADAMTS17):c.*510C>T170691ADAMTS17Benignrs2573650RCV000259358; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514097100514097GA15:g.100514097G>AClinGen:CA10636912
NM_139057.4(ADAMTS17):c.*498A>C170691ADAMTS17Benignrs2573651RCV000316986; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514109100514109TG15:g.100514109T>GClinGen:CA10646886C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*498A>T170691ADAMTS17Uncertain significance-1RCV001116906; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514109100514109TA15:g.100514109T>A-
NM_139057.4(ADAMTS17):c.*486G>A170691ADAMTS17Benignrs117381111RCV000373834; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514121100514121CT15:g.100514121C>TClinGen:CA10647674C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*481G>A170691ADAMTS17Uncertain significance-1RCV001116907; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514126100514126CT15:g.100514126C>T-
NM_139057.4(ADAMTS17):c.*474C>T170691ADAMTS17Likely benign-1RCV001116908; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514133100514133GA15:g.100514133G>A-
NM_139057.4(ADAMTS17):c.*465G>A170691ADAMTS17Uncertain significancers886050967RCV000262766; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514142100514142CT15:g.100514142C>TClinGen:CA10642860C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*464C>T170691ADAMTS17Uncertain significancers148258011RCV000320376; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514143100514143GA15:g.100514143G>AClinGen:CA10642861C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*439G>A170691ADAMTS17Benignrs140255903RCV000377295; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514168100514168CT15:g.100514168C>TClinGen:CA10646887C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*429A>C170691ADAMTS17Benignrs2581346RCV000285561; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514178100514178TG15:g.100514178T>GClinGen:CA10636917C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*425C>A170691ADAMTS17Benignrs574877864RCV000342896; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514182100514182GT15:g.100514182G>TClinGen:CA10646891C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*421G>C170691ADAMTS17Uncertain significancers886050968RCV000381214; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514186100514186CG15:g.100514186C>GClinGen:CA10647675C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*420G>A170691ADAMTS17Likely benignrs556966662RCV000288896; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514187100514187CT15:g.100514187C>TClinGen:CA10647676C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*419C>T170691ADAMTS17Uncertain significance-1RCV001120490; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514188100514188GA15:g.100514188G>A-
NM_139057.4(ADAMTS17):c.*399_*412dup170691ADAMTS17Benignrs71151926RCV000346450; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514194100514195CCAGAATAAAGCCTTT15:g.100514194_100514195insAGAATAAAGCCTTTClinGen:CA10646894
NM_139057.4(ADAMTS17):c.*376T>G170691ADAMTS17Uncertain significance-1RCV001120491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514231100514231AC15:g.100514231A>C-
NM_139057.4(ADAMTS17):c.*359A>G170691ADAMTS17Uncertain significancers150430121RCV000407156; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514248100514248TC15:g.100514248T>CClinGen:CA10646899
NM_139057.4(ADAMTS17):c.*316T>C170691ADAMTS17Benignrs2581345RCV000311353; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514291100514291AG15:g.100514291A>GClinGen:CA10636919
NM_139057.4(ADAMTS17):c.*293G>A170691ADAMTS17Uncertain significancers886050969RCV000349892; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514314100514314CT15:g.100514314C>TClinGen:CA10647677
NM_139057.4(ADAMTS17):c.*290C>A170691ADAMTS17Uncertain significance-1RCV001120492; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514317100514317GT15:g.100514317G>T-
NM_139057.4(ADAMTS17):c.*261G>A170691ADAMTS17Uncertain significancers886050970RCV000407162; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514346100514346CT15:g.100514346C>TClinGen:CA10647678
NM_139057.4(ADAMTS17):c.*260C>T170691ADAMTS17Uncertain significance-1RCV001115582; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514347100514347GA15:g.100514347G>A-
NM_139057.4(ADAMTS17):c.*221G>A170691ADAMTS17Uncertain significance-1RCV001115583; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514386100514386CT15:g.100514386C>T-
NM_139057.4(ADAMTS17):c.*200G>A170691ADAMTS17Uncertain significance-1RCV001115584; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514407100514407CT15:g.100514407C>T-
NM_139057.4(ADAMTS17):c.*190G>A170691ADAMTS17Benignrs2727199RCV000297449; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514417100514417CT15:g.100514417C>TClinGen:CA10647680
NM_139057.4(ADAMTS17):c.*189G>C170691ADAMTS17Benignrs2581343RCV000354745; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514418100514418CG15:g.100514418C>GClinGen:CA10636920
NM_139057.4(ADAMTS17):c.*181C>T170691ADAMTS17Uncertain significance-1RCV001115585; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514426100514426GA15:g.100514426G>A-
NM_139057.4(ADAMTS17):c.*172_*174del170691ADAMTS17Likely benignrs137961566RCV000262268; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514433100514435TAACT15:g.100514433_100514435delClinGen:CA10646903
NM_139057.4(ADAMTS17):c.*116T>C170691ADAMTS17Benignrs143850369RCV000301108; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514491100514491AG15:g.100514491A>GClinGen:CA10646904
NM_139057.4(ADAMTS17):c.*113A>G170691ADAMTS17Benignrs2581341RCV000358281; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514494100514494TC15:g.100514494T>CClinGen:CA10646908
NM_139057.4(ADAMTS17):c.*111C>T170691ADAMTS17Uncertain significancers886050971RCV000265491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514496100514496GA15:g.100514496G>AClinGen:CA10647684
NM_139057.4(ADAMTS17):c.*99A>G170691ADAMTS17Benign-1RCV001117018; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514508100514508TC15:g.100514508T>C-
NM_139057.4(ADAMTS17):c.*82G>A170691ADAMTS17Benignrs3825894RCV000322874; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514525100514525CT15:g.100514525C>TClinGen:CA10636921
NM_139057.4(ADAMTS17):c.*46C>G170691ADAMTS17Benignrs2581340RCV000379777; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514561100514561GC15:g.100514561G>CClinGen:CA7757374
NM_139057.4(ADAMTS17):c.*19G>A170691ADAMTS17Likely benign-1RCV001118646; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514588100514588CT15:g.100514588C>T-
NM_139057.4(ADAMTS17):c.*4G>A170691ADAMTS17Uncertain significance-1RCV001118647; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514603100514603CT15:g.100514603C>T-
NM_139057.4(ADAMTS17):c.3285G>A (p.Ser1095=)170691ADAMTS17Conflicting interpretations of pathogenicityrs144817994RCV000268922|RCV000948966; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514610100514610CT15:g.100514610C>TClinGen:CA7757396
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)170691ADAMTS17Benignrs2573652RCV000326224; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514614100514614TC15:g.100514614T>CClinGen:CA7757398,UniProtKB:Q8TE56#VAR_060317
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys)170691ADAMTS17Uncertain significance-1RCV001118648; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514672100514672GA15:g.100514672G>A-
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=)170691ADAMTS17Benignrs78682885RCV000383194|RCV000967394; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514676100514676GA15:g.100514676G>AClinGen:CA7757423
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=)170691ADAMTS17Uncertain significancers141373128RCV000291012; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514730100514730CG15:g.100514730C>GClinGen:CA7757443
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met)170691ADAMTS17Uncertain significance-1RCV001120588; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514731100514731GA15:g.100514731G>A-
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=)170691ADAMTS17Uncertain significancers886050972RCV000348248; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514751100514751TC15:g.100514751T>CClinGen:CA10636922
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=)170691ADAMTS17Benignrs112214202RCV000386573|RCV000957342; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514757100514757GA15:g.100514757G>AClinGen:CA7757452
NM_139057.4(ADAMTS17):c.3128-6C>T170691ADAMTS17Likely benign-1RCV001120589; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514773100514773GA15:g.100514773G>A-
NM_139057.4(ADAMTS17):c.3128-12C>T170691ADAMTS17Likely benignrs182634994RCV000294617; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514779100514779GA15:g.100514779G>AClinGen:CA7757456
NM_139057.4(ADAMTS17):c.3127+12C>T170691ADAMTS17Uncertain significancers200475413RCV000352746; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516238100516238GA15:g.100516238G>AClinGen:CA7757481
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)170691ADAMTS17Uncertain significance-1RCV001120590; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516256100516256GA15:g.100516256G>A-
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=)170691ADAMTS17Uncertain significancers886050973RCV000402220; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516266100516266GT15:g.100516266G>TClinGen:CA10646912
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=)170691ADAMTS17Uncertain significance-1RCV001115671; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516278100516278GA15:g.100516278G>A-
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr)170691ADAMTS17Uncertain significancers144662002RCV000298924; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516309100516309CT15:g.100516309C>TClinGen:CA10636925
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs143891379RCV001027768; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516333100516333GA15:g.100516333G>A-
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys)170691ADAMTS17Uncertain significancers367651794RCV000337487; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516349100516349CT15:g.100516349C>TClinGen:CA7757496
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu)170691ADAMTS17Uncertain significance-1RCV001115672; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516357100516357TA15:g.100516357T>A-
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=)170691ADAMTS17Uncertain significance-1RCV001115673; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516362100516362CT15:g.100516362C>T-
NM_139057.4(ADAMTS17):c.2950-6C>T170691ADAMTS17Uncertain significance-1RCV001115674; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516433100516433GA15:g.100516433G>A-
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)170691ADAMTS17Uncertain significance-1RCV001115675; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533254100533254GA15:g.100533254G>A-
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys)170691ADAMTS17Uncertain significancers775321973RCV000391953; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533279100533279CT15:g.100533279C>TClinGen:CA7757534
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=)170691ADAMTS17Benignrs140384823RCV000884064|RCV001117094; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533301100533301GA15:g.100533301G>A-
NM_139057.4(ADAMTS17):c.2883G>A (p.Pro961=)170691ADAMTS17Uncertain significancers550282581RCV000302689; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533319100533319CT15:g.100533319C>TClinGen:CA7757542
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=)170691ADAMTS17Uncertain significance-1RCV001117095; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533325100533325CT15:g.100533325C>T-
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=)170691ADAMTS17Uncertain significance-1RCV001117096; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533337100533337GA15:g.100533337G>A-
NM_139057.4(ADAMTS17):c.2799C>T (p.Cys933=)170691ADAMTS17Conflicting interpretations of pathogenicityrs146651611RCV000970886|RCV001117097; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533403100533403GA15:g.100533403G>A-
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=)170691ADAMTS17Uncertain significance-1RCV001117098; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537653100537653CT15:g.100537653C>T-
NM_139057.4(ADAMTS17):c.2731G>C (p.Ala911Pro)170691ADAMTS17Uncertain significancers886050974RCV000359672; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537655100537655CG15:g.100537655C>GClinGen:CA10646915
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=)170691ADAMTS17Uncertain significance-1RCV001118738; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537680100537680GA15:g.100537680G>A-
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=)170691ADAMTS17Benignrs149373184RCV000391957|RCV000962381; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537686100537686CT15:g.100537686C>TClinGen:CA7757614
NM_139057.4(ADAMTS17):c.2693T>C (p.Val898Ala)170691ADAMTS17Likely benignrs202099735RCV000920690|RCV001118739; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537693100537693AG15:g.100537693A>G-
NM_139057.4(ADAMTS17):c.2637A>G (p.Lys879=)170691ADAMTS17Uncertain significancers563938783RCV000305682; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537749100537749TC15:g.100537749T>CClinGen:CA7757631
NM_139057.4(ADAMTS17):c.2592-9G>A170691ADAMTS17Uncertain significancers373353462RCV000362692; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537803100537803CT15:g.100537803C>TClinGen:CA7757644
NM_139057.4(ADAMTS17):c.2592-9G>T170691ADAMTS17Uncertain significance-1RCV001118740; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537803100537803CA15:g.100537803C>A-
NM_139057.4(ADAMTS17):c.2592-10C>T170691ADAMTS17Uncertain significancers751012843RCV000270515; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100537804100537804GA15:g.100537804G>AClinGen:CA7757645
NM_139057.4(ADAMTS17):c.2591+14T>G170691ADAMTS17Benign-1RCV001118741; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589048100589048AC15:g.100589048A>C-
NM_139057.4(ADAMTS17):c.2591+6A>G170691ADAMTS17Benignrs8028251RCV000327980; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589056100589056TC15:g.100589056T>CClinGen:CA7757677
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp)170691ADAMTS17Uncertain significancers61757475RCV000366335; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589063100589063GA15:g.100589063G>AClinGen:CA7757680
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)170691ADAMTS17Benign-1RCV001120675; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589135100589135CT15:g.100589135C>T-
NM_139057.4(ADAMTS17):c.2499G>A (p.Lys833=)170691ADAMTS17Benign/Likely benignrs117133620RCV000973969|RCV001120676; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589154100589154CT15:g.100589154C>T-
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=)170691ADAMTS17Benignrs61752831RCV000274294; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589181100589181GA15:g.100589181G>AClinGen:CA7757704
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His)170691ADAMTS17Uncertain significance-1RCV001120677; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589191100589191CT15:g.100589191C>T-
NM_139057.4(ADAMTS17):c.2456-1dup170691ADAMTS17Pathogenicrs387906291RCV000003303; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100589194100589195TTC15:g.100589194_100589195insCClinGen:CA116036,OMIM:607511.0001C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2431G>C (p.Gly811Arg)170691ADAMTS17Uncertain significance-1RCV001120678; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591801100591801CG15:g.100591801C>G-
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=)170691ADAMTS17Uncertain significance-1RCV001120679; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591844100591844TC15:g.100591844T>C-
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg)170691ADAMTS17Uncertain significance-1RCV001120680; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591860100591860TC15:g.100591860T>C-
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=)170691ADAMTS17Uncertain significancers146286415RCV000331703; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591868100591868CT15:g.100591868C>TClinGen:CA7757762
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu)170691ADAMTS17Uncertain significance-1RCV001115756; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591884100591884GA15:g.100591884G>A-
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn)170691ADAMTS17Benignrs73474408RCV000965309|RCV001115757; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594226100594226CT15:g.100594226C>T-
NM_139057.4(ADAMTS17):c.2150C>T (p.Ser717Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs143817747RCV000895747|RCV001115758; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594247100594247GA15:g.100594247G>A-
NM_139057.4(ADAMTS17):c.2138-12C>T170691ADAMTS17Benignrs28529328RCV000388526; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594271100594271GA15:g.100594271G>AClinGen:CA7757843
NM_139057.4(ADAMTS17):c.2138-13A>G170691ADAMTS17Uncertain significance-1RCV001115759; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594272100594272TC15:g.100594272T>C-
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)170691ADAMTS17Benignrs4965583RCV000278280; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636586100636586GA15:g.100636586G>AClinGen:CA7757892
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=)170691ADAMTS17Uncertain significancers139059770RCV000317066; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636589100636589CT15:g.100636589C>TClinGen:CA7757894
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=)170691ADAMTS17Uncertain significancers200809221RCV000373895; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636631100636631GA15:g.100636631G>AClinGen:CA10645466
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=)170691ADAMTS17Uncertain significancers150431950RCV000281809; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636658100636658GA15:g.100636658G>AClinGen:CA7757913
NM_139057.4(ADAMTS17):c.2017-3T>C170691ADAMTS17Uncertain significance-1RCV001117189; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636684100636684AG15:g.100636684A>G-
NM_139057.4(ADAMTS17):c.2017-10G>C170691ADAMTS17Uncertain significance-1RCV001117190; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636691100636691CG15:g.100636691C>G-
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=)170691ADAMTS17Uncertain significancers200766799RCV000338990; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649206100649206GA15:g.100649206G>AClinGen:CA7757950
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His)170691ADAMTS17Uncertain significancers201920741RCV000399135; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649229100649229AG15:g.100649229A>GClinGen:CA7757963
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=)170691ADAMTS17Uncertain significancers760290195RCV000285184; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649239100649239GC15:g.100649239G>CClinGen:CA7757967
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=)170691ADAMTS17Benignrs61752832RCV000342512; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649248100649248GA15:g.100649248G>AClinGen:CA7757969
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His)170691ADAMTS17Uncertain significancers145922030RCV001027769; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649262100649262CG15:g.100649262C>G-
NM_139057.4(ADAMTS17):c.1947C>T (p.Ala649=)170691ADAMTS17Uncertain significance-1RCV001118815; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649263100649263GA15:g.100649263G>A-
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=)170691ADAMTS17Uncertain significancers749551110RCV000392336; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649287100649287CT15:g.100649287C>TClinGen:CA7757979
NM_139057.4(ADAMTS17):c.1889-14C>T170691ADAMTS17Uncertain significancers374520210RCV000307795; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649335100649335GA15:g.100649335G>AClinGen:CA7757992
NM_139057.4(ADAMTS17):c.1888+9A>C170691ADAMTS17Uncertain significance-1RCV001118816; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657043100657043TG15:g.100657043T>G-
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)170691ADAMTS17Uncertain significancers145594305RCV000364760; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657053100657053GA15:g.100657053G>AClinGen:CA7758025
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=)170691ADAMTS17Benignrs34558152RCV000392334|RCV000951325; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657065100657065GA15:g.100657065G>AClinGen:CA7758031C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro)170691ADAMTS17Uncertain significancers200371613RCV000576627; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657072100657072AG15:g.100657072A>GClinGen:CA7758034C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)170691ADAMTS17Benignrs200745301RCV000311432; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657100100657100GA15:g.100657100G>AClinGen:CA7758046C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)170691ADAMTS17Uncertain significance-1RCV001118817; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657116100657116CT15:g.100657116C>T-
NM_139057.4(ADAMTS17):c.1804C>T (p.Pro602Ser)170691ADAMTS17Uncertain significancers756454329RCV000368482; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657136100657136GA15:g.100657136G>AClinGen:CA10641431C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1767T>C (p.His589=)170691ADAMTS17Benign/Likely benignrs148939974RCV000276251|RCV000902650; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657173100657173AG15:g.100657173A>GClinGen:CA7758063C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1748C>T (p.Pro583Leu)170691ADAMTS17Likely benign-1RCV001120776; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657192100657192GA15:g.100657192G>A-
NM_139057.4(ADAMTS17):c.1721+1G>A170691ADAMTS17Pathogenicrs749116256RCV000003305; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672211100672211CT15:g.100672211C>TOMIM:607511.0003C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1721C>T (p.Pro574Leu)170691ADAMTS17Uncertain significance-1RCV001120777; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672212100672212GA15:g.100672212G>A-
NM_139057.4(ADAMTS17):c.1720C>T (p.Pro574Ser)170691ADAMTS17Uncertain significancers200327256RCV000333612; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672213100672213GA15:g.100672213G>AClinGen:CA7758114C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=)170691ADAMTS17Benignrs12907333RCV000353513; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672237100672237TG15:g.100672237T>GClinGen:CA7758121C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met)170691ADAMTS17Uncertain significancers140998386RCV000261021; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672251100672251GA15:g.100672251G>AClinGen:CA7758127C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg)170691ADAMTS17Uncertain significance-1RCV001120778; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672272100672272AC15:g.100672272A>C-
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)170691ADAMTS17Benignrs61754841RCV000891569|RCV001115841; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672282100672282CT15:g.100672282C>T-
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met)170691ADAMTS17Uncertain significance-1RCV001115842; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672326100672326GA15:g.100672326G>A-
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=)170691ADAMTS17Uncertain significancers767074176RCV000375577; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672346100672346CT15:g.100672346C>TClinGen:CA7758158C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=)170691ADAMTS17Uncertain significancers767074176RCV000318599; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672346100672346CG15:g.100672346C>GClinGen:CA7758159C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr)170691ADAMTS17Benignrs28567966RCV000291403; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692845100692845AG15:g.100692845A>GClinGen:CA7758242,UniProtKB:Q8TE56#VAR_057082C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1431G>T (p.Gln477His)170691ADAMTS17Uncertain significancers765427198RCV000327651; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692859100692859CA15:g.100692859C>AClinGen:CA10635661C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1398G>A (p.Pro466=)170691ADAMTS17Uncertain significancers149252796RCV000382187; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692892100692892CT15:g.100692892C>TClinGen:CA7758258C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=)170691ADAMTS17Uncertain significance-1RCV001115843; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692904100692904CT15:g.100692904C>T-
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu)170691ADAMTS17Uncertain significance-1RCV001117279; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692905100692905GA15:g.100692905G>A-
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=)170691ADAMTS17Conflicting interpretations of pathogenicityrs143896591RCV000287756|RCV000971411; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692937100692937CT15:g.100692937C>TClinGen:CA7758267C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile)170691ADAMTS17Benignrs72755233RCV000342646; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692953100692953GA15:g.100692953G>AClinGen:CA7758271C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1323-11G>A170691ADAMTS17Uncertain significance-1RCV001117280; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692978100692978CT15:g.100692978C>T-
NM_139057.4(ADAMTS17):c.1323-12C>T170691ADAMTS17Uncertain significancers770627848RCV000399829; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100692979100692979GA15:g.100692979G>AClinGen:CA7758279C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1322A>G (p.Lys441Arg)170691ADAMTS17Uncertain significance-1RCV001117281; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695385100695385TC15:g.100695385T>C-
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)170691ADAMTS17Uncertain significancers147286623RCV000284174; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695390100695390GT15:g.100695390G>TClinGen:CA7758309C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=)170691ADAMTS17Likely benignrs559102316RCV000339175; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695405100695405AG15:g.100695405A>GClinGen:CA7758313C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro)170691ADAMTS17Conflicting interpretations of pathogenicityrs140930935RCV000400172|RCV000882346; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100695419100695419AG15:g.100695419A>GClinGen:CA7758318C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1248G>A (p.Glu416=)170691ADAMTS17Uncertain significancers371229459RCV000299244; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695459100695459CT15:g.100695459C>TClinGen:CA7758327C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)170691ADAMTS17Uncertain significance-1RCV001118907; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695487100695487GC15:g.100695487G>C-
NM_139057.4(ADAMTS17):c.1208A>G (p.His403Arg)170691ADAMTS17Uncertain significancers886050975RCV000335509; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695499100695499TC15:g.100695499T>CClinGen:CA10646672C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1145A>G (p.Asn382Ser)170691ADAMTS17Uncertain significancers755587669RCV000391638; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100739559100739559TC15:g.100739559T>CClinGen:CA7758381C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1075+10G>C170691ADAMTS17Uncertain significance-1RCV001118908; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794331100794331CG15:g.100794331C>G-
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=)170691ADAMTS17Uncertain significance-1RCV001118909; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794345100794345AC15:g.100794345A>C-
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=)170691ADAMTS17Uncertain significancers145206425RCV000314246; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794354100794354CT15:g.100794354C>TClinGen:CA7758413C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)170691ADAMTS17Benignrs4369638RCV000368879; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794363100794363CT15:g.100794363C>TClinGen:CA7758418
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)170691ADAMTS17Uncertain significance-1RCV001120872; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801685100801685TC15:g.100801685T>C-
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)170691ADAMTS17Benignrs4965613RCV000274222; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801698100801698GA15:g.100801698G>AClinGen:CA7758446
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=)170691ADAMTS17Uncertain significancers557358714RCV000310648; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801707100801707CT15:g.100801707C>TClinGen:CA7758448
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu)170691ADAMTS17Uncertain significancers771992023RCV000365484; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801717100801717GA15:g.100801717G>AClinGen:CA7758453
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)170691ADAMTS17Uncertain significance-1RCV001120873; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801771100801771TA15:g.100801771T>A-
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=)170691ADAMTS17Uncertain significance-1RCV001115946; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801812100801812CT15:g.100801812C>T-
NM_139057.4(ADAMTS17):c.873+1G>T170691ADAMTS17Pathogenicrs1160509052RCV000584733; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100802556100802556CA15:g.100802556C>AClinGen:CA393940279,OMIM:607511.0005C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.867A>G (p.Gln289=)170691ADAMTS17Uncertain significancers886050976RCV000270880; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100802563100802563TC15:g.100802563T>CClinGen:CA10646674
NM_139057.4(ADAMTS17):c.790-6T>C170691ADAMTS17Uncertain significancers886050977RCV000326030; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100802646100802646AG15:g.100802646A>GClinGen:CA10645477
NM_139057.4(ADAMTS17):c.789+15G>A170691ADAMTS17Uncertain significance-1RCV001115947; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821419100821419CT15:g.100821419C>T-
NM_139057.4(ADAMTS17):c.789+9G>A170691ADAMTS17Conflicting interpretations of pathogenicityrs377670601RCV000902703|RCV001115948; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821425100821425CT15:g.100821425C>T-
NM_139057.4(ADAMTS17):c.789+8C>T170691ADAMTS17Benignrs7496614RCV000380597; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821426100821426GA15:g.100821426G>AClinGen:CA7758574
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=)170691ADAMTS17Uncertain significancers377212581RCV000266904; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821446100821446GA15:g.100821446G>AClinGen:CA7758578
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter)170691ADAMTS17Pathogenicrs267606638RCV000003304; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821463100821463GA15:g.100821463G>AClinGen:CA116037,OMIM:607511.0002C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=)170691ADAMTS17Benignrs7496640RCV000322067; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821467100821467GA15:g.100821467G>AClinGen:CA7758586
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)170691ADAMTS17Uncertain significancers200673902RCV000376720; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821472100821472CT15:g.100821472C>TClinGen:CA7758587
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn)170691ADAMTS17Uncertain significance-1RCV001117404; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821496100821496CT15:g.100821496C>T-
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=)170691ADAMTS17Uncertain significancers780909666RCV000282636; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821514100821514GA15:g.100821514G>AClinGen:CA7758604
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)170691ADAMTS17Pathogenicrs1555501030RCV000584730; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821571100821571TCT15:g.100821571_100821571delClinGen:CA658683904,OMIM:607511.0004
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)170691ADAMTS17Benignrs7496668RCV000337626; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821576100821576GA15:g.100821576G>AClinGen:CA7758631,UniProtKB:Q8TE56#VAR_057081
NM_139057.4(ADAMTS17):c.616+7C>T170691ADAMTS17Uncertain significancers886050978RCV000373535; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871087100871087GA15:g.100871087G>AClinGen:CA10646676
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)170691ADAMTS17Uncertain significance-1RCV001117405; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871120100871120GA15:g.100871120G>A-
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)170691ADAMTS17Uncertain significancers754980579RCV000278932; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871158100871158CG15:g.100871158C>GClinGen:CA7758692
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)170691ADAMTS17Uncertain significance-1RCV001119006|RCV001247849; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100871162100871162TC15:g.100871162T>C-
NM_139057.4(ADAMTS17):c.542G>A (p.Arg181Lys)170691ADAMTS17Uncertain significance-1RCV001119007; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871168100871168CT15:g.100871168C>T-
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg)170691ADAMTS17Uncertain significancers761591792RCV000352621; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871190100871190TG15:g.100871190T>GClinGen:CA7758707
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=)170691ADAMTS17Benignrs375900400RCV000389977; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881253100881253GC15:g.100881253G>CClinGen:CA7758748
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=)170691ADAMTS17Uncertain significance-1RCV001119008; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881289100881289GC15:g.100881289G>C-
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly)170691ADAMTS17Uncertain significancers886050979RCV000312214; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881306100881306GC15:g.100881306G>CClinGen:CA10645495
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=)170691ADAMTS17Uncertain significance-1RCV001119009; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881387100881387GA15:g.100881387G>A-
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)170691ADAMTS17Uncertain significancers886050980RCV000348494; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881461100881461TC15:g.100881461T>CClinGen:CA10646679
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=)170691ADAMTS17Uncertain significancers747636994RCV000391808; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881466100881466GC15:g.100881466G>CClinGen:CA7758757
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu)170691ADAMTS17Uncertain significancers886050981RCV000308576; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881470100881470CA15:g.100881470C>AClinGen:CA10641438
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)170691ADAMTS17Uncertain significance-1RCV001120980; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881480100881480GC15:g.100881480G>C-
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr)170691ADAMTS17Uncertain significance-1RCV001120981; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881480100881480GT15:g.100881480G>T-
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser)170691ADAMTS17Uncertain significance-1RCV001120982; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881483100881483CA15:g.100881483C>A-
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=)170691ADAMTS17Conflicting interpretations of pathogenicityrs886050982RCV000363303|RCV000953699; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881526100881526GA15:g.100881526G>AClinGen:CA10645501
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=)170691ADAMTS17Uncertain significance-1RCV001120983; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881559100881559GT15:g.100881559G>T-
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=)170691ADAMTS17Uncertain significance-1RCV001120984; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881589100881589CT15:g.100881589C>T-
NM_139057.4(ADAMTS17):c.80-10C>G170691ADAMTS17Uncertain significancers886050983RCV000268853; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881624100881624GC15:g.100881624G>CClinGen:CA10635666C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.79+3A>C170691ADAMTS17Uncertain significance-1RCV001116058; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882023100882023TG15:g.100882023T>G-
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=)170691ADAMTS17Uncertain significance-1RCV001116059; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882033100882033CT15:g.100882033C>T-
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser)170691ADAMTS17Uncertain significance-1RCV001280961; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882035100882035GA15:g.100882035G>A-
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)170691ADAMTS17Uncertain significance-1RCV001116060; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882083100882083GA15:g.100882083G>A-
NM_139057.4(ADAMTS17):c.-4T>C170691ADAMTS17Uncertain significancers886050984RCV000305239; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882108100882108AG15:g.100882108A>GClinGen:CA10635669C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-7G>A170691ADAMTS17Uncertain significance-1RCV001116061; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882111100882111CT15:g.100882111C>T-
NM_139057.4(ADAMTS17):c.-9C>T170691ADAMTS17Likely benignrs192272127RCV000360202; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882113100882113GA15:g.100882113G>AClinGen:CA7758783C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-19dup170691ADAMTS17Uncertain significancers150933882RCV000265554; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882122100882123GGC15:g.100882122_100882123insCClinGen:CA7758786C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-19del170691ADAMTS17Benignrs150933882RCV000320546; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882123100882123GCG15:g.100882123_100882123delClinGen:CA7758785C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-20G>T170691ADAMTS17Benign-1RCV001116062; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882124100882124CA15:g.100882124C>A-
NM_139057.4(ADAMTS17):c.-20G>C170691ADAMTS17Uncertain significance-1RCV001116063; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882124100882124CG15:g.100882124C>G-
NM_139057.4(ADAMTS17):c.-20G>A170691ADAMTS17Uncertain significance-1RCV001117503; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882124100882124CT15:g.100882124C>T-
NM_139057.4(ADAMTS17):c.-22G>A170691ADAMTS17Uncertain significancers760846321RCV000375197; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882126100882126CT15:g.100882126C>TClinGen:CA7758791C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-37C>T170691ADAMTS17Uncertain significance-1RCV001117504; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882141100882141GA15:g.100882141G>A-
NM_139057.4(ADAMTS17):c.-62C>A170691ADAMTS17Uncertain significancers886050985RCV000262059; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882166100882166GT15:g.100882166G>TClinGen:CA10635671C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-69C>T170691ADAMTS17Uncertain significancers534119279RCV000317235; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882173100882173GA15:g.100882173G>AClinGen:CA10635672C2750787 613195 Weill-Marchesani-like syndrome;
MSeqDR Portal