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 significancers1241129749RCV001119688; 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:36399215100511729100511729GANC_000015.9:g.100511729G>AClinGen:CA10647612C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2790C>G170691ADAMTS17Uncertain significancers529656441RCV001119689; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511817100511817GC15:g.100511817G>C-
NM_139057.4(ADAMTS17):c.*2747T>G170691ADAMTS17Likely benignrs183457005RCV001119690; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511860100511860AC15:g.100511860A>C-
NM_139057.4(ADAMTS17):c.*2738G>C170691ADAMTS17Uncertain significancers535694449RCV001119691; 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:36399215100511885100511885CTNC_000015.9:g.100511885C>TClinGen:CA10646813C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2701G>C170691ADAMTS17Benignrs13329612RCV000293669; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511906100511906CGNC_000015.9:g.100511906C>GClinGen:CA10646814C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2690G>A170691ADAMTS17Uncertain significancers566216613RCV000348611; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511917100511917CTNC_000015.9:g.100511917C>TClinGen:CA10636874C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2678T>G170691ADAMTS17Uncertain significancers2060208704RCV001121671; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100511929100511929AC15:g.100511929A>C-
NM_139057.4(ADAMTS17):c.*2652A>T170691ADAMTS17Uncertain significancers994363579RCV001121672; 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:36399215100511962100511962GANC_000015.9:g.100511962G>AClinGen:CA10636877C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2637C>G170691ADAMTS17Likely benignrs529849561RCV001121673; 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:36399215100511979100511981CTGGCNC_000015.9:g.100511980_100511982delClinGen:CA10642815C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2616G>A170691ADAMTS17Uncertain significancers375704403RCV001121674; 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:36399215100512002100512002CGNC_000015.9:g.100512002C>GClinGen:CA10642818C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2600C>T170691ADAMTS17Uncertain significancers2060211133RCV001116799; 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:36399215100512009100512009AGNC_000015.9:g.100512009A>GClinGen:CA10646818C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2578G>A170691ADAMTS17Benignrs183671964RCV000300415; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512029100512029CTNC_000015.9:g.100512029C>TClinGen:CA10647615C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2560T>C170691ADAMTS17Benignrs10468183RCV000355713; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512047100512047AGNC_000015.9:g.100512047A>GClinGen:CA10647618C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2541A>G170691ADAMTS17Benignrs8041971RCV000403155; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512066100512066TCNC_000015.9:g.100512066T>CClinGen:CA10646819C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2532G>A170691ADAMTS17Uncertain significancers886050951RCV000302089; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512075100512075CTNC_000015.9:g.100512075C>TClinGen:CA10636878C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2528T>C170691ADAMTS17Benignrs8037666RCV000361448; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512079100512079AGNC_000015.9:g.100512079A>GClinGen:CA10636879C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2511A>G170691ADAMTS17Uncertain significancers145561763RCV000266599; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512096100512096TCNC_000015.9:g.100512096T>CClinGen:CA10646822C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2501C>T170691ADAMTS17Uncertain significancers2060214433RCV001118253; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512106100512106GA15:g.100512106G>A-
NM_139057.4(ADAMTS17):c.*2480G>A170691ADAMTS17Uncertain significancers573353500RCV001118254; 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:36399215100512128100512128GCNC_000015.9:g.100512128G>CClinGen:CA10646824C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2472C>T170691ADAMTS17Uncertain significancers138099553RCV000362491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512135100512135GANC_000015.9:g.100512135G>AClinGen:CA10636880C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2472C>G170691ADAMTS17Uncertain significancers138099553RCV001118255; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512135100512135GC15:g.100512135G>C-
NM_139057.4(ADAMTS17):c.*2453C>T170691ADAMTS17Benignrs141023547RCV001118256; 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:36399215100512178100512178CTNC_000015.9:g.100512178C>TClinGen:CA10647621C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2425G>A170691ADAMTS17Uncertain significancers868757417RCV001118257; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512182100512182CT15:g.100512182C>T-
NM_139057.4(ADAMTS17):c.*2422C>T170691ADAMTS17Uncertain significancers528644699RCV001119790; 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:36399215100512228100512228GANC_000015.9:g.100512228G>AClinGen:CA10636881C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2355G>C170691ADAMTS17Uncertain significancers564194386RCV000385950; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512252100512252CGNC_000015.9:g.100512252C>GClinGen:CA10646832C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2354C>G170691ADAMTS17Likely benignrs8036076RCV000332563; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512253100512253GCNC_000015.9:g.100512253G>CClinGen:CA10642820C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2354C>T170691ADAMTS17Benignrs8036076RCV000277464; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512253100512253GANC_000015.9:g.100512253G>AClinGen:CA10646836C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2352C>G170691ADAMTS17Benignrs138578029RCV000373379; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512255100512255GCNC_000015.9:g.100512255G>CClinGen:CA10646838C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2329T>C170691ADAMTS17Uncertain significancers886050953RCV000278777; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512278100512278AGNC_000015.9:g.100512278A>GClinGen:CA10636882C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2324G>A170691ADAMTS17Benignrs8041395RCV000338619; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512283100512283CTNC_000015.9:g.100512283C>TClinGen:CA10636883C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2316C>G170691ADAMTS17Uncertain significancers886050954RCV000374538; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512291100512291GCNC_000015.9:g.100512291G>CClinGen:CA10647624C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2313T>C170691ADAMTS17Likely benignrs562633764RCV000284791; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512294100512294AGNC_000015.9:g.100512294A>GClinGen:CA10642821C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2305T>C170691ADAMTS17Uncertain significancers2060219977RCV001121774; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512302100512302AG15:g.100512302A>G-
NM_139057.4(ADAMTS17):c.*2292C>T170691ADAMTS17Uncertain significancers371938855RCV001121775; 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:36399215100512316100512316CTNC_000015.9:g.100512316C>TClinGen:CA10646839C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2290C>T170691ADAMTS17Uncertain significancers374783295RCV001121776; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512317100512317GA15:g.100512317G>A-
NM_139057.4(ADAMTS17):c.*2289A>G170691ADAMTS17Uncertain significancers945247732RCV001121777; 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:36399215100512324100512324TCNC_000015.9:g.100512324T>CClinGen:CA10646840C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2279G>A170691ADAMTS17Uncertain significancers529729790RCV000304057; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512328100512328CTNC_000015.9:g.100512328C>TClinGen:CA10646841C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2275A>G170691ADAMTS17Uncertain significancers778643467RCV001115210; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512332100512332TC15:g.100512332T>C-
NM_139057.4(ADAMTS17):c.*2234G>C170691ADAMTS17Uncertain significancers1040541256RCV001115211; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512373100512373CG15:g.100512373C>G-
NM_139057.4(ADAMTS17):c.*2228G>C170691ADAMTS17Likely benignrs541793251RCV001115212; 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:36399215100512380100512380CTNC_000015.9:g.100512380C>TClinGen:CA10647626C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2220G>A170691ADAMTS17Uncertain significancers559688841RCV001115213; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512387100512387CT15:g.100512387C>T-
NM_139057.4(ADAMTS17):c.*2196C>T170691ADAMTS17Uncertain significancers528240967RCV001115214; 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:36399215100512414100512414CGNC_000015.9:g.100512414C>GClinGen:CA10636885C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2186T>C170691ADAMTS17Uncertain significancers943727216RCV001118354; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512421100512421AG15:g.100512421A>G-
NM_139057.4(ADAMTS17):c.*2185G>C170691ADAMTS17Uncertain significancers540201674RCV001118355; 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:36399215100512424100512424CTNC_000015.9:g.100512424C>TClinGen:CA10642825C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2172T>C170691ADAMTS17Uncertain significancers191191512RCV001118356; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512435100512435AG15:g.100512435A>G-
NM_139057.4(ADAMTS17):c.*2157AG[1]170691ADAMTS17Likely benignrs144918924RCV000364472; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512447100512448ACTANC_000015.9:g.100512447CT[1]ClinGen:CA10636889C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2142GTT[1]170691ADAMTS17Uncertain significancers886050956RCV000275579; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512460100512462AAACANC_000015.9:g.100512461ACA[1]ClinGen:CA10647627C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2138C>T170691ADAMTS17Uncertain significancers185690662RCV000311916; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512469100512469GANC_000015.9:g.100512469G>AClinGen:CA10646843C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2115C>A170691ADAMTS17Uncertain significancers769848171RCV001118357; 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:36399215100512528100512528GANC_000015.9:g.100512528G>AClinGen:CA10646844C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2015T>C170691ADAMTS17Uncertain significancers956479865RCV001118358; 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:36399215100512594100512594ACNC_000015.9:g.100512594A>CClinGen:CA10636892C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2013T>A170691ADAMTS17Uncertain significancers2727194RCV001119894; 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:36399215100512595100512595GANC_000015.9:g.100512595G>AClinGen:CA10647628C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*2007G>A170691ADAMTS17Benignrs8041901RCV000372349; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512600100512600CTNC_000015.9:g.100512600C>TClinGen:CA10647632C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1992G>A170691ADAMTS17Benignrs114383018RCV000263810; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512615100512615CTNC_000015.9:g.100512615C>TClinGen:CA10647638C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1946G>T170691ADAMTS17Likely benignrs77749500RCV000318978; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512661100512661CANC_000015.9:g.100512661C>AClinGen:CA10647642C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1944G>A170691ADAMTS17Benignrs116429760RCV000377909; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512663100512663CTNC_000015.9:g.100512663C>TClinGen:CA10647643C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1899del170691ADAMTS17Uncertain significancers138786481RCV000283424; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512708100512708ATANC_000015.9:g.100512709delClinGen:CA10642827C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1859C>T170691ADAMTS17Benignrs79741636RCV001119895; 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:36399215100512827100512827CTNC_000015.9:g.100512827C>TClinGen:CA10636894C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1779T>C170691ADAMTS17Benignrs12440706RCV000378982; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512828100512828AGNC_000015.9:g.100512828A>GClinGen:CA10636895C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1774C>T170691ADAMTS17Benignrs74037056RCV000289368; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512833100512833GANC_000015.9:g.100512833G>AClinGen:CA10636896C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1773G>T170691ADAMTS17Benignrs74037057RCV000344320; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512834100512834CANC_000015.9:g.100512834C>AClinGen:CA10647644C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1766G>A170691ADAMTS17Uncertain significancers139353567RCV001121882; 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:36399215100512844100512844GANC_000015.9:g.100512844G>AClinGen:CA10647648C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1759G>C170691ADAMTS17Uncertain significancers539776359RCV000309411; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512848100512848CGNC_000015.9:g.100512848C>GClinGen:CA10646846C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1749G>A170691ADAMTS17Uncertain significancers757196506RCV000348528; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512858100512858CTNC_000015.9:g.100512858C>TClinGen:CA10636898C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1741A>T170691ADAMTS17Benignrs542106384RCV000406767; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512866100512866TANC_000015.9:g.100512866T>AClinGen:CA10642831C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1729G>A170691ADAMTS17Benignrs58739070RCV000313431; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512878100512878CTNC_000015.9:g.100512878C>TClinGen:CA10646848C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1708G>C170691ADAMTS17Uncertain significancers769909152RCV001115306; 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:36399215100512901100512901CTNC_000015.9:g.100512901C>TClinGen:CA10647649C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1685G>A170691ADAMTS17Uncertain significancers573719295RCV001115307; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100512922100512922CT15:g.100512922C>T-
NM_139057.4(ADAMTS17):c.*1684C>T170691ADAMTS17Uncertain significancers768887596RCV001115308; 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 significancers577902130RCV001115309; 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:36399215100513007100513007GANC_000015.9:g.100513007G>AClinGen:CA10636899C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1565G>C170691ADAMTS17Benignrs60803373RCV001118462; 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 significancers534291888RCV001118463; 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.*1431TCC[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:36399215100513318100513318ACNC_000015.9:g.100513318A>CClinGen:CA10642839C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1288C>T170691ADAMTS17Uncertain significancers902901073RCV001119981; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513319100513319GA15:g.100513319G>A-
NM_139057.4(ADAMTS17):c.*1278A>G170691ADAMTS17Uncertain significancers2060245859RCV001119982; 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:36399215100513363100513363GCNC_000015.9:g.100513363G>CClinGen:CA10642840C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1243C>T170691ADAMTS17Benignrs2581363RCV000292824|RCV001690048; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513364100513364GANC_000015.9:g.100513364G>AClinGen:CA10636905C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1227AAGG[1]170691ADAMTS17Benignrs10549565RCV000352425|RCV001672505; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513373100513376ACCTTANC_000015.9:g.100513374CTTC[1]ClinGen:CA10647657C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1234G>A170691ADAMTS17Likely benignrs543905312RCV001120281; 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:36399215100513389100513389AGNC_000015.9:g.100513389A>GClinGen:CA10646862C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1213G>C170691ADAMTS17Uncertain significancers982642681RCV001120282; 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:36399215100513477100513477GANC_000015.9:g.100513477G>AClinGen:CA10642841C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1127C>T170691ADAMTS17Uncertain significancers766519775RCV001120283; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513480100513480GA15:g.100513480G>A-
NM_139057.4(ADAMTS17):c.*1083A>G170691ADAMTS17Benignrs2581362RCV000335044|RCV001690049; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513524100513524TCNC_000015.9:g.100513524T>CClinGen:CA10647659C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1078G>A170691ADAMTS17Benignrs2727196RCV000392065|RCV001683268; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513529100513529CTNC_000015.9:g.100513529C>TClinGen:CA10642848C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1065G>A170691ADAMTS17Uncertain significancers886050959RCV000300002; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513542100513542CTNC_000015.9:g.100513542C>TClinGen:CA10642849C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1054T>C170691ADAMTS17Uncertain significancers886050960RCV000359494; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513553100513553AGNC_000015.9:g.100513553A>GClinGen:CA10646865C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1024T>G170691ADAMTS17Uncertain significancers886050961RCV000402663; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513583100513583ACNC_000015.9:g.100513583A>CClinGen:CA10647661C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1014_*1019del170691ADAMTS17Conflicting interpretations of pathogenicityrs11277519RCV000268852|RCV001698761; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513588100513593CTGGGCTCNC_000015.9:g.100513590_100513595delClinGen:CA10646867C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1011_*1016del170691ADAMTS17Uncertain significancers879713910RCV000326147; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513591100513596GGCTTGTGNC_000015.9:g.100513592_100513597delClinGen:CA10636907C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*1016C>T170691ADAMTS17Uncertain significancers886050962RCV000364552; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513591100513591GANC_000015.9:g.100513591G>AClinGen:CA10647662C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*989G>A170691ADAMTS17Benignrs57279107RCV000272321; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513618100513618CTNC_000015.9:g.100513618C>TClinGen:CA10642850C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*966G>T170691ADAMTS17Uncertain significancers886050963RCV000329692; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513641100513641CANC_000015.9:g.100513641C>AClinGen:CA10636908C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*963C>T170691ADAMTS17Uncertain significancers563070394RCV001115394; 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:36399215100513647100513647CTNC_000015.9:g.100513647C>TClinGen:CA10636909C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*959C>T170691ADAMTS17Likely benignrs141144986RCV001118544; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513648100513648GA15:g.100513648G>A-
NM_139057.4(ADAMTS17):c.*901G>A170691ADAMTS17Uncertain significancers962309056RCV001118545; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513706100513706CT15:g.100513706C>T-
NM_139057.4(ADAMTS17):c.*900T>C170691ADAMTS17Benignrs2581359RCV000296719|RCV001690050; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513707100513707AGNC_000015.9:g.100513707A>GClinGen:CA10647664C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*885A>G170691ADAMTS17Benignrs2727198RCV000316730|RCV001690051; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513722100513722TCNC_000015.9:g.100513722T>CClinGen:CA10646871C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*882G>C170691ADAMTS17Benignrs2581358RCV000281535|RCV001642978; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100513725100513725CGNC_000015.9:g.100513725C>GClinGen:CA10642852C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*882G>T170691ADAMTS17Likely benignrs2581358RCV000373722; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513725100513725CANC_000015.9:g.100513725C>AClinGen:CA10646872C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*880C>T170691ADAMTS17Likely benignrs187416809RCV001120073; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513727100513727GA15:g.100513727G>A-
NM_139057.4(ADAMTS17):c.*857G>A170691ADAMTS17Uncertain significancers552737711RCV001120074; 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:36399215100513751100513751GANC_000015.9:g.100513751G>AClinGen:CA10647667C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*850C>T170691ADAMTS17Uncertain significancers886050964RCV000400189; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513757100513757GANC_000015.9:g.100513757G>AClinGen:CA10642854C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*805G>A170691ADAMTS17Uncertain significancers889232446RCV001120075; 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:36399215100513805100513805CTNC_000015.9:g.100513805C>TClinGen:CA10642855C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*743G>A170691ADAMTS17Benignrs74036641RCV000341908; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513864100513864CTNC_000015.9:g.100513864C>TClinGen:CA10646873C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*742C>T170691ADAMTS17Uncertain significancers555201429RCV000391160; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513865100513865GANC_000015.9:g.100513865G>AClinGen:CA10646874C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*700G>A170691ADAMTS17Benignrs60022871RCV000306947; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513907100513907CTNC_000015.9:g.100513907C>TClinGen:CA10647668C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*692G>C170691ADAMTS17Benignrs187035332RCV000363919; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513915100513915CGNC_000015.9:g.100513915C>GClinGen:CA10642856C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*671C>T170691ADAMTS17Benignrs76681073RCV000391158; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513936100513936GANC_000015.9:g.100513936G>AClinGen:CA10642859C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*639G>A170691ADAMTS17Uncertain significancers886050965RCV000310500; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513968100513968CTNC_000015.9:g.100513968C>TClinGen:CA10646875C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*620T>C170691ADAMTS17Uncertain significancers1164434838RCV001120383; 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:36399215100513995100513995CANC_000015.9:g.100513995C>AClinGen:CA10636910C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*611C>T170691ADAMTS17Uncertain significancers906820389RCV001115489; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100513996100513996GA15:g.100513996G>A-
NM_139057.4(ADAMTS17):c.*572T>C170691ADAMTS17Uncertain significancers751250175RCV001115490; 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:36399215100514040100514040CGNC_000015.9:g.100514040C>GClinGen:CA10636911C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*567G>A170691ADAMTS17Benignrs2573649RCV001115491; 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:36399215100514063100514063CTNC_000015.9:g.100514063C>TClinGen:CA10647669C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*519T>C170691ADAMTS17Uncertain significancers886050966RCV000370456; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514088100514088AGNC_000015.9:g.100514088A>GClinGen:CA10646885C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*510C>T170691ADAMTS17Benignrs2573650RCV000259358; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514097100514097GANC_000015.9:g.100514097G>AClinGen:CA10636912C2750787 613195 Weill-Marchesani-like syndrome;
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 significancers2573651RCV001116906; 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 significancers1046788827RCV001116907; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514126100514126CT15:g.100514126C>T-
NM_139057.4(ADAMTS17):c.*474C>T170691ADAMTS17Likely benignrs117821788RCV001116908; 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 significancers1038576369RCV001120490; 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:36399215100514194100514195CCAGAATAAAGCCTTTNC_000015.9:g.100514195_100514208dupClinGen:CA10646894C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*376T>G170691ADAMTS17Uncertain significancers2060267332RCV001120491; 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:36399215100514248100514248TCNC_000015.9:g.100514248T>CClinGen:CA10646899C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*316T>C170691ADAMTS17Benignrs2581345RCV000311353|RCV001675800; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514291100514291AGNC_000015.9:g.100514291A>GClinGen:CA10636919C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*293G>A170691ADAMTS17Uncertain significancers886050969RCV000349892; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514314100514314CTNC_000015.9:g.100514314C>TClinGen:CA10647677C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*290C>A170691ADAMTS17Uncertain significancers1016206521RCV001120492; 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:36399215100514346100514346CTNC_000015.9:g.100514346C>TClinGen:CA10647678C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*260C>T170691ADAMTS17Uncertain significancers747343009RCV001115582; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514347100514347GA15:g.100514347G>A-
NM_139057.4(ADAMTS17):c.*221G>A170691ADAMTS17Uncertain significancers1286406738RCV001115583; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514386100514386CT15:g.100514386C>T-
NM_139057.4(ADAMTS17):c.*200G>A170691ADAMTS17Uncertain significancers548191022RCV001115584; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514407100514407CT15:g.100514407C>T-
NM_139057.4(ADAMTS17):c.*190G>A170691ADAMTS17Benignrs2727199RCV000297449|RCV001594947; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514417100514417CTNC_000015.9:g.100514417C>TClinGen:CA10647680C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*189G>C170691ADAMTS17Benignrs2581343RCV000354745|RCV001672506; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514418100514418CGNC_000015.9:g.100514418C>GClinGen:CA10636920C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*181C>T170691ADAMTS17Uncertain significancers760184660RCV001115585; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514426100514426GA15:g.100514426G>A-
NM_139057.4(ADAMTS17):c.*172_*174del170691ADAMTS17Benign/Likely benignrs137961566RCV000262268|RCV001594394; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514433100514435TAACTNC_000015.9:g.100514435_100514437delClinGen:CA10646903C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*116T>C170691ADAMTS17Benignrs143850369RCV000301108; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514491100514491AGNC_000015.9:g.100514491A>GClinGen:CA10646904C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*113A>G170691ADAMTS17Benignrs2581341RCV000358281|RCV001683269; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514494100514494TCNC_000015.9:g.100514494T>CClinGen:CA10646908C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*111C>T170691ADAMTS17Uncertain significancers886050971RCV000265491; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514496100514496GANC_000015.9:g.100514496G>AClinGen:CA10647684C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*99A>G170691ADAMTS17Benignrs58960452RCV001117018|RCV001673016; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514508100514508TC15:g.100514508T>C-
NM_139057.4(ADAMTS17):c.*82G>A170691ADAMTS17Benignrs3825894RCV000322874|RCV001723901; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514525100514525CTNC_000015.9:g.100514525C>TClinGen:CA10636921C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*46C>G170691ADAMTS17Benignrs2581340RCV000379777|RCV001613008; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514561100514561GCNC_000015.9:g.100514561G>CClinGen:CA7757374C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.*19G>A170691ADAMTS17Likely benignrs201992797RCV001118646; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514588100514588CT15:g.100514588C>T-
NM_139057.4(ADAMTS17):c.*4G>A170691ADAMTS17Uncertain significancers200989311RCV001118647; 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:CN51720215100514610100514610CTNC_000015.9:g.100514610C>TClinGen:CA7757396C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser)170691ADAMTS17Benignrs2573652RCV000326224|RCV001536258|RCV001579423; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN517202|MedGen:CN16937415100514614100514614TCNC_000015.9:g.100514614T>CClinGen:CA7757398,UniProtKB:Q8TE56#VAR_060317C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs201896149RCV000971192|RCV002066422; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514620100514620GA15:g.100514620G>A-
NM_139057.4(ADAMTS17):c.3223C>T (p.Arg1075Cys)170691ADAMTS17Uncertain significancers202106289RCV001118648; 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:CN51720215100514676100514676GANC_000015.9:g.100514676G>AClinGen:CA7757423C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3165G>C (p.Thr1055=)170691ADAMTS17Conflicting interpretations of pathogenicityrs141373128RCV000291012|RCV002061170; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514730100514730CGNC_000015.9:g.100514730C>GClinGen:CA7757443C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3164C>T (p.Thr1055Met)170691ADAMTS17Uncertain significancers371570653RCV001120588|RCV001856581; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514731100514731GA15:g.100514731G>A-
NM_139057.4(ADAMTS17):c.3144A>G (p.Lys1048=)170691ADAMTS17Uncertain significancers886050972RCV000348248; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100514751100514751TCNC_000015.9:g.100514751T>CClinGen:CA10636922C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=)170691ADAMTS17Benignrs112214202RCV000386573|RCV000957342; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514757100514757GANC_000015.9:g.100514757G>AClinGen:CA7757452C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3128-6C>T170691ADAMTS17Benign/Likely benignrs148559983RCV001120589|RCV002069963; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514773100514773GA15:g.100514773G>A-
NM_139057.4(ADAMTS17):c.3128-12C>T170691ADAMTS17Benign/Likely benignrs182634994RCV000294617|RCV002056424; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100514779100514779GANC_000015.9:g.100514779G>AClinGen:CA7757456C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3127+12C>T170691ADAMTS17Conflicting interpretations of pathogenicityrs200475413RCV000352746|RCV002056425; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516238100516238GANC_000015.9:g.100516238G>AClinGen:CA7757481C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3121C>T (p.Arg1041Cys)170691ADAMTS17Uncertain significancers149434438RCV001120590|RCV001882391; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516256100516256GA15:g.100516256G>A-
NM_139057.4(ADAMTS17):c.3111C>A (p.Ile1037=)170691ADAMTS17Uncertain significancers886050973RCV000402220; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516266100516266GTNC_000015.9:g.100516266G>TClinGen:CA10646912C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3099C>T (p.Asn1033=)170691ADAMTS17Conflicting interpretations of pathogenicityrs374725364RCV001115671|RCV001856520; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516278100516278GA15:g.100516278G>A-
NM_139057.4(ADAMTS17):c.3068G>A (p.Cys1023Tyr)170691ADAMTS17Uncertain significancers144662002RCV000298924; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516309100516309CTNC_000015.9:g.100516309C>TClinGen:CA10636925C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs143891379RCV001027768|RCV001572916; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516333100516333GA15:g.100516333G>A-
NM_139057.4(ADAMTS17):c.3028G>A (p.Glu1010Lys)170691ADAMTS17Uncertain significancers367651794RCV000337487|RCV001850662; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516349100516349CTNC_000015.9:g.100516349C>TClinGen:CA7757496C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.3020A>T (p.His1007Leu)170691ADAMTS17Uncertain significancers1375656495RCV001115672; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516357100516357TA15:g.100516357T>A-
NM_139057.4(ADAMTS17):c.3015G>A (p.Gly1005=)170691ADAMTS17Uncertain significancers900832969RCV001115673; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516362100516362CT15:g.100516362C>T-
NM_139057.4(ADAMTS17):c.2984G>A (p.Arg995Gln)170691ADAMTS17Likely pathogenicrs1289240183RCV001839052; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516393100516393CT100516393-
NM_139057.4(ADAMTS17):c.2950-6C>T170691ADAMTS17Uncertain significancers1447997408RCV001115674; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100516433100516433GA15:g.100516433G>A-
NM_139057.4(ADAMTS17):c.2950-45C>T170691ADAMTS17Benign-1RCV001549067|RCV001685505; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100516472100516472GA100516472-
NM_139057.4(ADAMTS17):c.2949+35G>A170691ADAMTS17Benign-1RCV001549236|RCV001685507; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100533218100533218CT100533218-
NM_139057.4(ADAMTS17):c.2948C>T (p.Thr983Met)170691ADAMTS17Uncertain significancers142633005RCV001115675|RCV001856521; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100533254100533254GA15:g.100533254G>A-
NM_139057.4(ADAMTS17):c.2923G>A (p.Glu975Lys)170691ADAMTS17Uncertain significancers775321973RCV000391953; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100533279100533279CTNC_000015.9:g.100533279C>TClinGen:CA7757534C2750787 613195 Weill-Marchesani-like syndrome;
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:36399215100533319100533319CTNC_000015.9:g.100533319C>TClinGen:CA7757542C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2877G>A (p.Thr959=)170691ADAMTS17Conflicting interpretations of pathogenicityrs758555346RCV001117095|RCV002069892; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100533325100533325CT15:g.100533325C>T-
NM_139057.4(ADAMTS17):c.2865C>T (p.Cys955=)170691ADAMTS17Uncertain significancers746354760RCV001117096; 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.2796+96G>A170691ADAMTS17Benign-1RCV001549237|RCV001673192; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537494100537494CT100537494-
NM_139057.4(ADAMTS17):c.2733G>A (p.Ala911=)170691ADAMTS17Uncertain significancers139105066RCV001117098; 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:36399215100537655100537655CGNC_000015.9:g.100537655C>GClinGen:CA10646915C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2706C>T (p.Pro902=)170691ADAMTS17Uncertain significancers777524361RCV001118738; 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:CN51720215100537686100537686CTNC_000015.9:g.100537686C>TClinGen:CA7757614C2750787 613195 Weill-Marchesani-like syndrome;
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=)170691ADAMTS17Conflicting interpretations of pathogenicityrs563938783RCV000305682|RCV002056426; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537749100537749TCNC_000015.9:g.100537749T>CClinGen:CA7757631C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2592-9G>A170691ADAMTS17Conflicting interpretations of pathogenicityrs373353462RCV000362692|RCV002061171; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537803100537803CTNC_000015.9:g.100537803C>TClinGen:CA7757644C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2592-9G>T170691ADAMTS17Conflicting interpretations of pathogenicityrs373353462RCV001118740|RCV002069923; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537803100537803CA15:g.100537803C>A-
NM_139057.4(ADAMTS17):c.2592-10C>T170691ADAMTS17Conflicting interpretations of pathogenicityrs751012843RCV000270515|RCV002056427; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100537804100537804GANC_000015.9:g.100537804G>AClinGen:CA7757645C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2591+14T>G170691ADAMTS17Benignrs75585294RCV001118741|RCV002069924; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100589048100589048AC15:g.100589048A>C-
NM_139057.4(ADAMTS17):c.2591+6A>G170691ADAMTS17Benignrs8028251RCV000327980|RCV001579898|RCV001672507; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100589056100589056TCNC_000015.9:g.100589056T>CClinGen:CA7757677C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2590C>T (p.Arg864Trp)170691ADAMTS17Uncertain significancers61757475RCV000366335|RCV001859885; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100589063100589063GANC_000015.9:g.100589063G>AClinGen:CA7757680C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn)170691ADAMTS17Benignrs147316982RCV001120675|RCV001520040; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100589135100589135CT15: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|RCV002061172; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100589181100589181GANC_000015.9:g.100589181G>AClinGen:CA7757704C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2462G>A (p.Arg821His)170691ADAMTS17Uncertain significancers201503183RCV001120677|RCV001856584; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100589191100589191CT15: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 significancers201676815RCV001120678; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591801100591801CG15:g.100591801C>G-
NM_139057.4(ADAMTS17):c.2388A>G (p.Lys796=)170691ADAMTS17Uncertain significancers763171758RCV001120679; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591844100591844TC15:g.100591844T>C-
NM_139057.4(ADAMTS17):c.2372A>G (p.Gln791Arg)170691ADAMTS17Uncertain significancers545996605RCV001120680; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100591860100591860TC15:g.100591860T>C-
NM_139057.4(ADAMTS17):c.2364G>A (p.Ala788=)170691ADAMTS17Conflicting interpretations of pathogenicityrs146286415RCV000331703|RCV002056428; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100591868100591868CTNC_000015.9:g.100591868C>TClinGen:CA7757762C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs144007074RCV001115756|RCV002069861; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100591884100591884GA15:g.100591884G>A-
NM_139057.4(ADAMTS17):c.2254A>G (p.Ile752Val)170691ADAMTS17Likely pathogenic-1RCV001839051; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594143100594143TC100594143-
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|RCV001580020|RCV001613009; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100594271100594271GANC_000015.9:g.100594271G>AClinGen:CA7757843C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2138-13A>G170691ADAMTS17Uncertain significancers2032359159RCV001115759; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100594272100594272TC15:g.100594272T>C-
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=)170691ADAMTS17Benignrs4965583RCV000278280|RCV001579434|RCV001712104; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100636586100636586GANC_000015.9:g.100636586G>AClinGen:CA7757892C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2109G>A (p.Lys703=)170691ADAMTS17Conflicting interpretations of pathogenicityrs139059770RCV000317066|RCV002056429; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100636589100636589CTNC_000015.9:g.100636589C>TClinGen:CA7757894C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2067C>T (p.Cys689=)170691ADAMTS17Uncertain significancers200809221RCV000373895; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636631100636631GANC_000015.9:g.100636631G>AClinGen:CA10645466C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2040C>T (p.Ile680=)170691ADAMTS17Uncertain significancers150431950RCV000281809; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100636658100636658GANC_000015.9:g.100636658G>AClinGen:CA7757913C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.2017-3T>C170691ADAMTS17Uncertain significancers760792591RCV001117189|RCV001856537; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100636684100636684AG15:g.100636684A>G-
NM_139057.4(ADAMTS17):c.2017-10G>C170691ADAMTS17Conflicting interpretations of pathogenicityrs765531556RCV001117190|RCV002069895; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100636691100636691CG15:g.100636691C>G-
NM_139057.4(ADAMTS17):c.2004C>T (p.His668=)170691ADAMTS17Conflicting interpretations of pathogenicityrs200766799RCV000338990|RCV002056430; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100649206100649206GANC_000015.9:g.100649206G>AClinGen:CA7757950C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1981T>C (p.Tyr661His)170691ADAMTS17Uncertain significancers201920741RCV000399135; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649229100649229AGNC_000015.9:g.100649229A>GClinGen:CA7757963C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1971C>G (p.Pro657=)170691ADAMTS17Conflicting interpretations of pathogenicityrs760290195RCV000285184|RCV002056431; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100649239100649239GCNC_000015.9:g.100649239G>CClinGen:CA7757967C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=)170691ADAMTS17Benignrs61752832RCV000342512|RCV001653547; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100649248100649248GANC_000015.9:g.100649248G>AClinGen:CA7757969C2750787 613195 Weill-Marchesani-like syndrome;
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=)170691ADAMTS17Conflicting interpretations of pathogenicityrs767077707RCV001118815|RCV002069927; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100649263100649263GA15:g.100649263G>A-
NM_139057.4(ADAMTS17):c.1923G>A (p.Gly641=)170691ADAMTS17Uncertain significancers749551110RCV000392336; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649287100649287CTNC_000015.9:g.100649287C>TClinGen:CA7757979C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1889-14C>T170691ADAMTS17Uncertain significancers374520210RCV000307795; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100649335100649335GANC_000015.9:g.100649335G>AClinGen:CA7757992C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1888+9A>C170691ADAMTS17Uncertain significancers201219446RCV001118816; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100657043100657043TG15:g.100657043T>G-
NM_139057.4(ADAMTS17):c.1887C>T (p.Asp629=)170691ADAMTS17Uncertain significancers145594305RCV000364760|RCV001850663; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657053100657053GANC_000015.9:g.100657053G>AClinGen:CA7758025C2750787 613195 Weill-Marchesani-like syndrome;
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|RCV001853827; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657072100657072AG15:g.100657072A>GClinGen:CA7758034C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp)170691ADAMTS17Benignrs200745301RCV000311432|RCV002056432; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657100100657100GA15:g.100657100G>AClinGen:CA7758046C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1824G>A (p.Gln608=)170691ADAMTS17Conflicting interpretations of pathogenicityrs753804023RCV001118817|RCV002069928; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100657116100657116CT15: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 benignrs201586136RCV001120776; 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 significancers200960936RCV001120777; 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|RCV001579970|RCV001723902; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100672237100672237TG15:g.100672237T>GClinGen:CA7758121C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1682C>T (p.Thr561Met)170691ADAMTS17Uncertain significancers140998386RCV000261021|RCV001850664; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100672251100672251GA15:g.100672251G>AClinGen:CA7758127C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1661T>G (p.Met554Arg)170691ADAMTS17Uncertain significancers770984984RCV001120778; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672272100672272AC15:g.100672272A>C-
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)170691ADAMTS17Benignrs61754841RCV000891569|RCV001115841|RCV001796307; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN16937415100672282100672282CT15:g.100672282C>T-
NM_139057.4(ADAMTS17):c.1607C>T (p.Thr536Met)170691ADAMTS17Uncertain significancers1244171699RCV001115842; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100672326100672326GA15:g.100672326G>A-
NM_139057.4(ADAMTS17):c.1587G>A (p.Ala529=)170691ADAMTS17Conflicting interpretations of pathogenicityrs767074176RCV000375577|RCV002056434; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100672346100672346CT15:g.100672346C>TClinGen:CA7758158C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1587G>C (p.Ala529=)170691ADAMTS17Conflicting interpretations of pathogenicityrs767074176RCV000318599|RCV002056433; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100672346100672346CG15:g.100672346C>GClinGen:CA7758159C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr)170691ADAMTS17Benignrs28567966RCV000291403|RCV001618556; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692845100692845AG15: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=)170691ADAMTS17Conflicting interpretations of pathogenicityrs149252796RCV000382187|RCV002056435; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692892100692892CT15:g.100692892C>TClinGen:CA7758258C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1386G>A (p.Pro462=)170691ADAMTS17Conflicting interpretations of pathogenicityrs565893965RCV001115843|RCV002069862; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692904100692904CT15:g.100692904C>T-
NM_139057.4(ADAMTS17):c.1385C>T (p.Pro462Leu)170691ADAMTS17Uncertain significancers201356815RCV001117279|RCV001856539; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692905100692905GA15: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|RCV001711933; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100692953100692953GA15:g.100692953G>AClinGen:CA7758271C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1323-11G>A170691ADAMTS17Uncertain significancers74442617RCV001117280; 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 significancers145156568RCV001117281; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100695385100695385TC15:g.100695385T>C-
NM_139057.4(ADAMTS17):c.1317C>A (p.Phe439Leu)170691ADAMTS17Conflicting interpretations of pathogenicityrs147286623RCV000284174|RCV001729527; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100695390100695390GT15:g.100695390G>TClinGen:CA7758309C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1302T>C (p.Asp434=)170691ADAMTS17Benign/Likely benignrs559102316RCV000339175|RCV002056436; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100695405100695405AG15: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=)170691ADAMTS17Conflicting interpretations of pathogenicityrs371229459RCV000299244|RCV002056437; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100695459100695459CT15:g.100695459C>TClinGen:CA7758327C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1220C>G (p.Ala407Gly)170691ADAMTS17Uncertain significancers201734269RCV001118907|RCV001856562; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100695487100695487GC15: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 significancers943576519RCV001118908; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794331100794331CG15:g.100794331C>G-
NM_139057.4(ADAMTS17):c.1071T>G (p.Thr357=)170691ADAMTS17Uncertain significancers1450190162RCV001118909; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100794345100794345AC15:g.100794345A>C-
NM_139057.4(ADAMTS17):c.1062G>A (p.Pro354=)170691ADAMTS17Conflicting interpretations of pathogenicityrs145206425RCV000314246|RCV002061173; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100794354100794354CT15:g.100794354C>TClinGen:CA7758413C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=)170691ADAMTS17Benignrs4369638RCV000368879|RCV001580064|RCV001672508; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100794363100794363CTNC_000015.9:g.100794363C>TClinGen:CA7758418C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1031+81A>G170691ADAMTS17Benign-1RCV001549238|RCV001658281; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100801603100801603TC100801603-
NM_139057.4(ADAMTS17):c.1030A>G (p.Arg344Gly)170691ADAMTS17Uncertain significancers1442746480RCV001120872; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801685100801685TC15:g.100801685T>C-
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=)170691ADAMTS17Benignrs4965613RCV000274222|RCV001579934|RCV001660647; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100801698100801698GANC_000015.9:g.100801698G>AClinGen:CA7758446C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.1008G>A (p.Val336=)170691ADAMTS17Conflicting interpretations of pathogenicityrs557358714RCV000310648|RCV002056438; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100801707100801707CTNC_000015.9:g.100801707C>TClinGen:CA7758448C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.998C>T (p.Pro333Leu)170691ADAMTS17Uncertain significancers771992023RCV000365484|RCV001850665; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100801717100801717GANC_000015.9:g.100801717G>AClinGen:CA7758453C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.944A>T (p.Tyr315Phe)170691ADAMTS17Uncertain significancers141367283RCV001120873; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100801771100801771TA15:g.100801771T>A-
NM_139057.4(ADAMTS17):c.903G>A (p.Glu301=)170691ADAMTS17Conflicting interpretations of pathogenicityrs150290429RCV001115946|RCV002069866; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100801812100801812CT15:g.100801812C>T-
NM_139057.4(ADAMTS17):c.873+62C>T170691ADAMTS17Benign-1RCV001549239|RCV001725229; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100802495100802495GA100802495-
NM_139057.4(ADAMTS17):c.873+58T>C170691ADAMTS17Benign-1RCV001549240|RCV001725230; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100802499100802499AG100802499-
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:36399215100802563100802563TCNC_000015.9:g.100802563T>CClinGen:CA10646674C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.790-6T>C170691ADAMTS17Uncertain significancers886050977RCV000326030; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100802646100802646AGNC_000015.9:g.100802646A>GClinGen:CA10645477C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.789+15G>A170691ADAMTS17Conflicting interpretations of pathogenicityrs374137320RCV001115947|RCV002069867; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821419100821419CT15: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|RCV001579869|RCV001653548; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100821426100821426GANC_000015.9:g.100821426G>AClinGen:CA7758574C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.777C>T (p.Thr259=)170691ADAMTS17Conflicting interpretations of pathogenicityrs377212581RCV000266904|RCV002056439; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821446100821446GANC_000015.9:g.100821446G>AClinGen:CA7758578C2750787 613195 Weill-Marchesani-like syndrome;
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|RCV001579790|RCV001675801; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100821467100821467GANC_000015.9:g.100821467G>AClinGen:CA7758586C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.751G>A (p.Glu251Lys)170691ADAMTS17Conflicting interpretations of pathogenicityrs200673902RCV000376720|RCV002056440; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821472100821472CTNC_000015.9:g.100821472C>TClinGen:CA7758587C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.727G>A (p.Asp243Asn)170691ADAMTS17Uncertain significancers551851234RCV001117404|RCV001856540; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821496100821496CT15:g.100821496C>T-
NM_139057.4(ADAMTS17):c.709C>T (p.Leu237=)170691ADAMTS17Conflicting interpretations of pathogenicityrs780909666RCV000282636|RCV002056441; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821514100821514GANC_000015.9:g.100821514G>AClinGen:CA7758604C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs)170691ADAMTS17Pathogenicrs1555501030RCV000584730; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100821571100821571TCTNC_000015.9:g.100821573delClinGen:CA658683904,OMIM:607511.0004C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu)170691ADAMTS17Benignrs7496668RCV000337626|RCV001579884|RCV001660648; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN169374|MedGen:CN51720215100821576100821576GANC_000015.9:g.100821576G>AClinGen:CA7758631,UniProtKB:Q8TE56#VAR_057081C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.617-41A>G170691ADAMTS17Benign-1RCV001549241|RCV001615301; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100821647100821647TC100821647-
NM_139057.4(ADAMTS17):c.616+7C>T170691ADAMTS17Uncertain significancers886050978RCV000373535; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871087100871087GANC_000015.9:g.100871087G>AClinGen:CA10646676C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.590C>T (p.Pro197Leu)170691ADAMTS17Uncertain significancers764391097RCV001117405|RCV001856541; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100871120100871120GA15:g.100871120G>A-
NM_139057.4(ADAMTS17):c.552G>C (p.Trp184Cys)170691ADAMTS17Uncertain significancers754980579RCV000278932|RCV001850666; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100871158100871158CGNC_000015.9:g.100871158C>GClinGen:CA7758692C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg)170691ADAMTS17Uncertain significancers146934810RCV001119006|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 significancers143689354RCV001119007|RCV001856563; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100871168100871168CT15:g.100871168C>T-
NM_139057.4(ADAMTS17):c.520A>C (p.Ser174Arg)170691ADAMTS17Uncertain significancers761591792RCV000352621; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100871190100871190TGNC_000015.9:g.100871190T>GClinGen:CA7758707C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=)170691ADAMTS17Benignrs375900400RCV000389977|RCV002056442; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881253100881253GCNC_000015.9:g.100881253G>CClinGen:CA7758748C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.405C>G (p.Pro135=)170691ADAMTS17Uncertain significancers1426438937RCV001119008; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881289100881289GC15:g.100881289G>C-
NM_139057.4(ADAMTS17):c.388C>G (p.Arg130Gly)170691ADAMTS17Uncertain significancers886050979RCV000312214|RCV001859886; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881306100881306GCNC_000015.9:g.100881306G>CClinGen:CA10645495C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.307C>T (p.Leu103=)170691ADAMTS17Conflicting interpretations of pathogenicityrs1360871464RCV001119009|RCV002069932; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881387100881387GA15:g.100881387G>A-
NM_139057.4(ADAMTS17):c.233A>G (p.Glu78Gly)170691ADAMTS17Uncertain significancers886050980RCV000348494|RCV001859887; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881461100881461TCNC_000015.9:g.100881461T>CClinGen:CA10646679C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.228C>G (p.Pro76=)170691ADAMTS17Conflicting interpretations of pathogenicityrs747636994RCV000391808|RCV002056443; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881466100881466GCNC_000015.9:g.100881466G>CClinGen:CA7758757C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.224G>T (p.Arg75Leu)170691ADAMTS17Uncertain significancers886050981RCV000308576|RCV001850667; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881470100881470CANC_000015.9:g.100881470C>AClinGen:CA10641438C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.214C>G (p.Pro72Ala)170691ADAMTS17Uncertain significancers946108501RCV001856587|RCV001120980; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881480100881480GC15:g.100881480G>C-
NM_139057.4(ADAMTS17):c.214C>A (p.Pro72Thr)170691ADAMTS17Uncertain significancers946108501RCV001120981; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881480100881480GT15:g.100881480G>T-
NM_139057.4(ADAMTS17):c.211G>T (p.Ala71Ser)170691ADAMTS17Uncertain significancers1042212825RCV001120982|RCV001856588; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881483100881483CA15: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:CN51720215100881526100881526GANC_000015.9:g.100881526G>AClinGen:CA10645501C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.135C>A (p.Pro45=)170691ADAMTS17Uncertain significancers958960649RCV001120983; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881559100881559GT15:g.100881559G>T-
NM_139057.4(ADAMTS17):c.105G>A (p.Val35=)170691ADAMTS17Conflicting interpretations of pathogenicityrs558036408RCV002069967|RCV001120984; NMedGen:CN517202|MONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100881589100881589CT15:g.100881589C>T-
NM_139057.4(ADAMTS17):c.80-10C>G170691ADAMTS17Conflicting interpretations of pathogenicityrs886050983RCV000268853|RCV002056444; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100881624100881624GC15:g.100881624G>CClinGen:CA10635666C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.79+3A>C170691ADAMTS17Uncertain significancers2046376517RCV001116058|RCV001856526; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100882023100882023TG15:g.100882023T>G-
NM_139057.4(ADAMTS17):c.72G>A (p.Pro24=)170691ADAMTS17Uncertain significancers1596563056RCV001116059; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882033100882033CT15:g.100882033C>T-
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser)170691ADAMTS17Uncertain significancers150132039RCV001280961; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882035100882035GA15:g.100882035G>A-
NM_139057.4(ADAMTS17):c.22C>T (p.Pro8Ser)170691ADAMTS17Uncertain significancers770794109RCV001116060|RCV001856527; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100882083100882083GA15: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 significancers371479108RCV001116061; 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|RCV001675802; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:363992|MedGen:CN51720215100882123100882123GCG15:g.100882123_100882123delClinGen:CA7758785C2750787 613195 Weill-Marchesani-like syndrome;
NM_139057.4(ADAMTS17):c.-20G>T170691ADAMTS17Benignrs569251254RCV001116062; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882124100882124CA15:g.100882124C>A-
NM_139057.4(ADAMTS17):c.-20G>C170691ADAMTS17Uncertain significancers569251254RCV001116063; NMONDO:MONDO:0013176,MedGen:C2750787,OMIM:613195, Orphanet:36399215100882124100882124CG15:g.100882124C>G-
NM_139057.4(ADAMTS17):c.-20G>A170691ADAMTS17Uncertain significancers569251254RCV001117503; 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 significancers1419969888RCV001117504; 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