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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: Jeune syndrome (MONDO:0018770)
Parent Node: short rib-polydactyly syndrome, Verma-Naumoff type (MONDO:0019664)
..Starting node ..short-rib thoracic dysplasia 7 with or without polydactyly ()
Child Nodes:
Sister Nodes:
..asphyxiating thoracic dystrophy 3 ()
..short-rib thoracic dysplasia 11 with or without polydactyly ()
..short-rib thoracic dysplasia 7 with or without polydactyly ()
..short-rib thoracic dysplasia 8 with or without polydactyly ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

13569

Name:

short-rib thoracic dysplasia 7 with or without polydactyly

Definition:

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

Alternative IDs:

614091

ParentIDs:

TreeNumbers:

Synonyms:

short rib-polydactyly syndrom type V; short rib-polydactyly syndrome, type 5; short-rib thoracic dysplasia 7 with or without polydactyly; short-rib thoracic dysplasia 7 with or without polydactyly; SRTD7; SRPS5; SRTD7

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 614091;
MSeqDR :
Genes: WDR35;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006487	Bowing of the long bones
3	HP:0000476	Cystic hygroma
4	HP:0001789	Hydrops fetalis
5	HP:0000882	Hypoplastic scapulae
6	HP:0000047	Hypospadias
7	HP:0000774	Narrow chest
8	HP:0000113	Polycystic kidney dysplasia
9	HP:0010442	Polydactyly
10	HP:0100259	Postaxial polydactyly
11	HP:0002089	Pulmonary hypoplasia
12	HP:0000107	Renal cyst
13	HP:0003026	Short long bone
14	HP:0000773	Short ribs
15	HP:0001159	Syndactyly
16	HP:0006644	Thoracic dysplasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)	-1	MATN3;WDR35	Benign/Likely benign	1060742	RCV000294691\|RCV000291625\|RCV000391047\|RCV000607352\|RCV001139538\|RCV001139539\|RCV001522540;	N	MedGen:CN043640\|MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330, Orphanet:1515\|MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505\|MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C	2	20189015	20189015	NC_000002.11:g.20189015T>C	ClinGen:CA1543648,UniProtKB:Q9P2L0#VAR_053428	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	57539	WDR35	Pathogenic/Likely pathogenic	199952377	RCV000055830\|RCV000288028\|RCV000515864\|RCV000648351\|RCV000826131\|RCV001557398;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:CN239419\|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20141557	20141557	NC_000002.11:g.20141557A>C	ClinGen:CA344941,OMIM:613602.0015	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.1690C>T (p.Arg564Ter)	57539	WDR35	Pathogenic/Likely pathogenic	367810877	RCV001389261\|RCV002267113;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900	2	20145702	20145702	20145702	-
NM_020779.4(WDR35):c.1468del (p.Gln490fs)	57539	WDR35	Pathogenic/Likely pathogenic	886044119	RCV000323877\|RCV000578495\|RCV000851219\|RCV002518074;	N	MedGen:CN517202\|\|MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151178	20151178	NC_000002.11:g.20151178del	ClinGen:CA10606370,OMIM:613602.0014	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.1255+1G>A	57539	WDR35	Pathogenic/Likely pathogenic	371669862	RCV000301418\|RCV000797932;	N	MedGen:CN517202\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20160314	20160314	NC_000002.11:g.20160314C>T	ClinGen:CA1543286	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)	57539	WDR35	Pathogenic	746128772	RCV000691580\|RCV003333099;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113815	20113815	NC_000002.11:g.20113815C>T	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.2976del (p.Leu993fs)	57539	WDR35	Pathogenic	1490771127	RCV001041434;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20130302	20130302	2:g.20130302_20130302del	-
NM_020779.4(WDR35):c.2701G>T (p.Glu901Ter)	57539	WDR35	Pathogenic	-1	RCV002775068;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132166	20132166	NC_000002.11:g.20132166C>A	-
NM_020779.4(WDR35):c.2638dup (p.Thr880fs)	57539	WDR35	Pathogenic	2103399754	RCV001384852;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133181	20133182	20133181	-
NM_020779.4(WDR35):c.1954_1955insAAAC (p.Leu652fs)	57539	WDR35	Pathogenic	2103406171	RCV001865064;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138134	20138135	20138134	-
NM_020779.4(WDR35):c.1694_1695dup (p.Thr566Ter)	57539	WDR35	Pathogenic	766096320	RCV001874542;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145696	20145697	20145696	-
NM_020779.4(WDR35):c.1600C>T (p.Arg534Ter)	57539	WDR35	Pathogenic	387907085	RCV000024038;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20146256	20146256	2:g.20146256G>A	ClinGen:CA210572,OMIM:613602.0006	C3279792 614091 Short rib polydactyly syndrome 5;
NM_020779.4(WDR35):c.1546C>T (p.Gln516Ter)	57539	WDR35	Pathogenic	1050086118	RCV000755720\|RCV000851217;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505	2	20146310	20146310	NC_000002.11:g.20146310G>A	-
NC_000002.11:g.(?_20153575)_(20153759_?)del	57539	WDR35	Pathogenic	-1	RCV001959115;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20153575	20153759	-1	-
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)	57539	WDR35	Pathogenic	767751856	RCV000693381;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20153614	20153614	2:g.20153614G>A	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_001006657.2(WDR35):c.1210dup (p.Glu404fs)	57539	WDR35	Pathogenic	1327489348	RCV000691129;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20162072	20162073	NC_000002.11:g.20162074dup	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)	57539	WDR35	Pathogenic	199840434	RCV000703020;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20169255	20169255	2:g.20169255G>A	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.781T>C (p.Trp261Arg)	57539	WDR35	Pathogenic	431905505	RCV000024039;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173425	20173425	2:g.20173425A>G	ClinGen:CA210574,UniProtKB:Q9P2L0#VAR_065955,OMIM:613602.0007	C3279792 614091 Short rib polydactyly syndrome 5;
NM_020779.4(WDR35):c.307+214_436+1120del	57539	WDR35	Pathogenic	-1	RCV000024037;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20177392	20180238	2:g.20177392_20177490del	ClinGen:CA210571,dbVar:nssv3761607,OMIM:613602.0005	C3279792 614091 Short rib polydactyly syndrome 5;
NM_020779.4(WDR35):c.297del (p.Met99fs)	57539	WDR35	Pathogenic	867715686	RCV001947629;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20180462	20180462	20180461	-
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	57539	WDR35	Pathogenic	765513105	RCV000515824\|RCV000591001\|RCV003326443;	N	MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20182232	20182232	NC_000002.11:g.20182232C>T	ClinGen:CA43388469	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.143-18T>A	57539	WDR35	Pathogenic	1553324519	RCV000578492;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20182313	20182313	2:g.20182313A>T	ClinGen:CA658683176,OMIM:613602.0011	C3279792 614091 Short rib polydactyly syndrome 5;
NC_000002.11:g.(?_20188906)_(20189063_?)del	57539	WDR35	Pathogenic	-1	RCV003105396;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188906	20189063		-
NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)	57539	WDR35	Pathogenic	767788330	RCV001972131;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188932	20188932	20188932	-
NM_020779.4(WDR35):c.2415-2A>G	57539	WDR35	Likely pathogenic	143550695	RCV002034331;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135366	20135366	20135366	-
NM_020779.4(WDR35):c.1846-30_1848del	57539	WDR35	Likely pathogenic	1553317813	RCV000556416;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20141598	20141630	NC_000002.11:g.20141600_20141632del	ClinGen:CA658657011	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.1525-2A>T	57539	WDR35	Likely pathogenic	-1	RCV002942392;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146333	20146333	NC_000002.11:g.20146333T>A	-
NM_020779.4(WDR35):c.1400G>A (p.Arg467Lys)	57539	WDR35	Likely pathogenic	1558342399	RCV000755706\|RCV000851216;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505	2	20153595	20153595	NC_000002.11:g.20153595C>T	-
NM_020779.4(WDR35):c.1255+1G>C	57539	WDR35	Likely pathogenic	371669862	RCV001975584;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20160314	20160314	20160314	-
NM_020779.4(WDR35):c.570+2T>G	57539	WDR35	Likely pathogenic	-1	RCV003052838;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20175289	20175289	NC_000002.11:g.20175289A>C	-
NM_020779.4(WDR35):c.504T>A (p.Ser168Arg)	57539	WDR35	Likely pathogenic	397515536	RCV001994033;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20175357	20175357	20175357	-
NM_001006657.1(WDR35):c.*3299C>T	57539	WDR35	Uncertain significance	1669790644	RCV001141033\|RCV001141034;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110020	20110020	2:g.20110020G>A	-
NM_020779.4(WDR35):c.*3269G>A	57539	WDR35	Uncertain significance	886055391	RCV000269873\|RCV000364625;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110050	20110050	NC_000002.11:g.20110050C>T	ClinGen:CA10613647	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*3268C>T	57539	WDR35	Benign	113280329	RCV000306257\|RCV000361079;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110051	20110051	NC_000002.11:g.20110051G>A	ClinGen:CA10611879	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*3235C>A	57539	WDR35	Uncertain significance	186978842	RCV000266424\|RCV000321249;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110084	20110084	NC_000002.11:g.20110084G>T	ClinGen:CA10613648	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*3225G>A	57539	WDR35	Uncertain significance	189820516	RCV000262507\|RCV000375930;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110094	20110094	NC_000002.11:g.20110094C>T	ClinGen:CA10613402	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2990G>T	57539	WDR35	Uncertain significance	781556463	RCV000317675\|RCV000372551;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110329	20110329	NC_000002.11:g.20110329C>A	ClinGen:CA10613649	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2989C>T	57539	WDR35	Uncertain significance	886055392	RCV000296779\|RCV000351586;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110330	20110330	2:g.20110330G>A	ClinGen:CA10611882	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2962C>T	57539	WDR35	Uncertain significance	886055393	RCV000292760\|RCV000387491;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110357	20110357	2:g.20110357G>A	ClinGen:CA10612287	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2957G>A	57539	WDR35	Benign	76072774	RCV000347663\|RCV000405912;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110362	20110362	2:g.20110362C>T	ClinGen:CA10612289	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2887T>C	57539	WDR35	Uncertain significance	749198501	RCV000308116\|RCV000344317;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110432	20110432	2:g.20110432A>G	ClinGen:CA10613412	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2836C>T	57539	WDR35	Benign	74469198	RCV000304822\|RCV000402768;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110483	20110483	2:g.20110483G>A	ClinGen:CA10613650	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2797G>A	57539	WDR35	Uncertain significance	528776835	RCV000264155\|RCV000359539;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110522	20110522	2:g.20110522C>T	ClinGen:CA10613655	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2748G>T	57539	WDR35	Uncertain significance	886055394	RCV000300640\|RCV000355371;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110571	20110571	2:g.20110571C>A	ClinGen:CA10613661	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2726A>G	57539	WDR35	Uncertain significance	886055395	RCV000260587\|RCV000315636;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110593	20110593	2:g.20110593T>C	ClinGen:CA10613413	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2725G>T	57539	WDR35	Uncertain significance	886055396	RCV000275758\|RCV000370271;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110594	20110594	2:g.20110594C>A	ClinGen:CA10613416	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2629T>A	57539	WDR35	Uncertain significance	1001737898	RCV001138582\|RCV001138581;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110690	20110690	2:g.20110690A>T	-
NM_020779.4(WDR35):c.*2623T>C	57539	WDR35	Benign	538967974	RCV000330863\|RCV000385727;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110696	20110696	2:g.20110696A>G	ClinGen:CA10613417	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2622A>G	57539	WDR35	Benign	558837510	RCV000291338\|RCV000327592;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110697	20110697	2:g.20110697T>C	ClinGen:CA10613662	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2620G>A	57539	WDR35	Uncertain significance	545271105	RCV001141156\|RCV001141157;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110699	20110699	2:g.20110699C>T	-
NM_020779.4(WDR35):c.*2619C>T	57539	WDR35	Uncertain significance	565144558	RCV000287945\|RCV000382139;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110700	20110700	2:g.20110700G>A	ClinGen:CA10611883	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2618G>A	57539	WDR35	Uncertain significance	563586298	RCV001143001\|RCV001143000;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110701	20110701	2:g.20110701C>T	-
NM_020779.4(WDR35):c.*2559A>G	57539	WDR35	Uncertain significance	751743368	RCV000342945\|RCV000407350;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110760	20110760	2:g.20110760T>C	ClinGen:CA10611886	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2463C>T	57539	WDR35	Benign	3731661	RCV000284420\|RCV000338388;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20110856	20110856	2:g.20110856G>A	ClinGen:CA10613424	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2408G>C	57539	WDR35	Benign	112569580	RCV000298684\|RCV000404537;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110911	20110911	NC_000002.11:g.20110911C>G	ClinGen:CA10611888	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2341G>C	57539	WDR35	Uncertain significance	886055397	RCV000353599\|RCV000395986;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20110978	20110978	NC_000002.11:g.20110978C>G	ClinGen:CA10612290	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*2315G>C	57539	WDR35	Likely benign	72779355	RCV001138257\|RCV001138256;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111004	20111004	2:g.20111004C>G	-
NM_020779.4(WDR35):c.*2239G>A	57539	WDR35	Uncertain significance	1042042509	RCV001138259\|RCV001138258;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111080	20111080	2:g.20111080C>T	-
NM_020779.4(WDR35):c.*2228C>T	57539	WDR35	Uncertain significance	1669828408	RCV001138260\|RCV001138261;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111091	20111091	2:g.20111091G>A	-
NM_020779.4(WDR35):c.*2160T>C	57539	WDR35	Uncertain significance	192966128	RCV001138680\|RCV001138681;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111159	20111159	2:g.20111159A>G	-
NM_020779.4(WDR35):c.*1960G>T	57539	WDR35	Uncertain significance	1669835588	RCV001138682\|RCV001138683;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111359	20111359	2:g.20111359C>A	-
NM_020779.4(WDR35):c.*1957C>T	57539	WDR35	Uncertain significance	947201612	RCV001138685\|RCV001138684;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111362	20111362	2:g.20111362G>A	-
NM_020779.4(WDR35):c.*1934A>G	57539	WDR35	Uncertain significance	886055399	RCV000270103\|RCV000364671;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111385	20111385	NC_000002.11:g.20111385T>C	ClinGen:CA10613429	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1821A>G	57539	WDR35	Uncertain significance	978221263	RCV001141260\|RCV001141261;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111498	20111498	2:g.20111498T>C	-
NM_020779.4(WDR35):c.*1754C>G	57539	WDR35	Uncertain significance	1188052659	RCV001141263\|RCV001141262;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111565	20111565	2:g.20111565G>C	-
NM_020779.4(WDR35):c.*1681A>G	57539	WDR35	Likely benign	188310451	RCV000325120\|RCV000379573;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111638	20111638	NC_000002.11:g.20111638T>C	ClinGen:CA10613430	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1668A>C	57539	WDR35	Uncertain significance	191316348	RCV000285139\|RCV000321486;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111651	20111651	NC_000002.11:g.20111651T>G	ClinGen:CA10612293	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1637C>T	57539	WDR35	Uncertain significance	1669848389	RCV001143101\|RCV001143102;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111682	20111682	2:g.20111682G>A	-
NM_020779.4(WDR35):c.*1582C>T	57539	WDR35	Uncertain significance	757203175	RCV000282573\|RCV000376163;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111737	20111737	NC_000002.11:g.20111737G>A	ClinGen:CA10611889	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1489G>A	57539	WDR35	Benign	10182866	RCV000278950\|RCV000352793;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111830	20111830	NC_000002.11:g.20111830C>T	ClinGen:CA10613431	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1479C>T	57539	WDR35	Benign	77400381	RCV000313214\|RCV000403525;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111840	20111840	NC_000002.11:g.20111840G>A	ClinGen:CA10612295	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1461A>C	57539	WDR35	Uncertain significance	886055400	RCV000367842\|RCV000405584;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20111858	20111858	NC_000002.11:g.20111858T>G	ClinGen:CA10611890	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1413C>T	57539	WDR35	Uncertain significance	567295822	RCV001136542\|RCV001136543;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111906	20111906	2:g.20111906G>A	-
NM_020779.4(WDR35):c.*1406A>G	57539	WDR35	Benign	10197681	RCV001136544\|RCV001136545;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111913	20111913	2:g.20111913T>C	-
NM_020779.4(WDR35):c.*1370G>A	57539	WDR35	Uncertain significance	1039776865	RCV001136546\|RCV001136547;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20111949	20111949	2:g.20111949C>T	-
NM_020779.4(WDR35):c.*1270C>T	57539	WDR35	Uncertain significance	568999408	RCV000309202\|RCV000363930;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112049	20112049	NC_000002.11:g.20112049G>A	ClinGen:CA10612296	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1253C>G	57539	WDR35	Uncertain significance	368665906	RCV000269690\|RCV000306085;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112066	20112066	NC_000002.11:g.20112066G>C	ClinGen:CA10611898	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1219G>A	57539	WDR35	Uncertain significance	1003005484	RCV001138784\|RCV001138785;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112100	20112100	2:g.20112100C>T	-
NM_020779.4(WDR35):c.*1218C>T	57539	WDR35	Uncertain significance	990547735	RCV001138786\|RCV001138787;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112101	20112101	2:g.20112101G>A	-
NM_020779.4(WDR35):c.*1207C>G	57539	WDR35	Uncertain significance	1466981368	RCV001141365\|RCV001141366;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112112	20112112	2:g.20112112G>C	-
NM_020779.4(WDR35):c.*1146T>C	57539	WDR35	Uncertain significance	1036362475	RCV001141367\|RCV001141368;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112173	20112173	2:g.20112173A>G	-
NM_020779.4(WDR35):c.*1129C>T	57539	WDR35	Benign	76845713	RCV000266035\|RCV000360780;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112190	20112190	NC_000002.11:g.20112190G>A	ClinGen:CA10613432	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1127A>G	57539	WDR35	Benign	75503594	RCV000321173\|RCV000373973;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112192	20112192	NC_000002.11:g.20112192T>C	ClinGen:CA10611900	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1062G>A	57539	WDR35	Uncertain significance	778834686	RCV000260527\|RCV000315854;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112257	20112257	NC_000002.11:g.20112257C>T	ClinGen:CA10613672	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1050T>C	57539	WDR35	Benign	10197890	RCV000294505\|RCV000389045;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112269	20112269	NC_000002.11:g.20112269A>G	ClinGen:CA10613676	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1038C>G	57539	WDR35	Uncertain significance	145549829	RCV000349444\|RCV000385369;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112281	20112281	NC_000002.11:g.20112281G>C	ClinGen:CA10613433	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1006G>A	57539	WDR35	Uncertain significance	80292673	RCV000291107\|RCV000346297;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112313	20112313	NC_000002.11:g.20112313C>T	ClinGen:CA10613685	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*1005C>A	57539	WDR35	Uncertain significance	746476400	RCV001136639\|RCV001136640;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112314	20112314	2:g.20112314G>T	-
NM_020779.4(WDR35):c.*998A>G	57539	WDR35	Likely benign	530093062	RCV000306532\|RCV000405249;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112321	20112321	NC_000002.11:g.20112321T>C	ClinGen:CA10611901	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*997T>C	57539	WDR35	Uncertain significance	536197643	RCV001136641\|RCV001136642;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112322	20112322	2:g.20112322A>G	-
NM_020779.4(WDR35):c.*978A>G	57539	WDR35	Benign	149444449	RCV001136644\|RCV001136643;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112341	20112341	2:g.20112341T>C	-
NM_020779.4(WDR35):c.*813A>T	57539	WDR35	Uncertain significance	148210550	RCV000342771\|RCV000390562;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112506	20112506	NC_000002.11:g.20112506T>A	ClinGen:CA10611904	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*807T>C	57539	WDR35	Likely benign	555257043	RCV001138893\|RCV001138892;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112512	20112512	2:g.20112512A>G	-
NM_020779.4(WDR35):c.*795C>T	57539	WDR35	Uncertain significance	190700326	RCV000303155\|RCV000358055;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112524	20112524	NC_000002.11:g.20112524G>A	ClinGen:CA10613693	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*763T>C	57539	WDR35	Likely benign	560228088	RCV000263299\|RCV000299814;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112556	20112556	NC_000002.11:g.20112556A>G	ClinGen:CA10613434	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*747C>T	57539	WDR35	Uncertain significance	1451842817	RCV001141481\|RCV001141482;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112572	20112572	2:g.20112572G>A	-
NM_020779.4(WDR35):c.*712A>T	57539	WDR35	Uncertain significance	572859023	RCV001141484\|RCV001141483;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112607	20112607	2:g.20112607T>A	-
NM_020779.4(WDR35):c.*635C>T	57539	WDR35	Uncertain significance	1669878199	RCV001141485\|RCV001141486;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112684	20112684	2:g.20112684G>A	-
NM_020779.4(WDR35):c.*601A>G	57539	WDR35	Likely benign	182037850	RCV000260856\|RCV000354680;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112718	20112718	NC_000002.11:g.20112718T>C	ClinGen:CA10611905	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*573A>T	57539	WDR35	Likely benign	140069324	RCV000332380\|RCV000389217;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112746	20112746	NC_000002.11:g.20112746T>A	ClinGen:CA10612297	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*563T>G	57539	WDR35	Uncertain significance	561642193	RCV000273761\|RCV000331068;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112756	20112756	NC_000002.11:g.20112756A>C	ClinGen:CA10612298	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*553G>T	57539	WDR35	Benign	79153401	RCV000291160\|RCV000383326;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112766	20112766	NC_000002.11:g.20112766C>A	ClinGen:CA10613694	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*531T>A	57539	WDR35	Likely benign	187092318	RCV000343721\|RCV000382101;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112788	20112788	NC_000002.11:g.20112788A>T	ClinGen:CA10611908	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*523G>A	57539	WDR35	Benign	957614	RCV000285349\|RCV000342398;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112796	20112796	NC_000002.11:g.20112796C>T	ClinGen:CA10611913	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*487C>T	57539	WDR35	Benign	116951767	RCV001136746\|RCV001136747;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20112832	20112832	2:g.20112832G>A	-
NM_020779.4(WDR35):c.*380G>A	57539	WDR35	Uncertain significance	886055401	RCV000302909\|RCV000392807;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20112939	20112939	NC_000002.11:g.20112939C>T	ClinGen:CA10613446	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*305T>C	57539	WDR35	Uncertain significance	1404107870	RCV001136748\|RCV001136749;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113014	20113014	2:g.20113014A>G	-
NM_020779.4(WDR35):c.*297A>G	57539	WDR35	Uncertain significance	886891593	RCV001138983\|RCV001138984;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113022	20113022	2:g.20113022T>C	-
NM_020779.4(WDR35):c.*271A>G	57539	WDR35	Uncertain significance	994131640	RCV001138985\|RCV001138986;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113048	20113048	2:g.20113048T>C	-
NM_020779.4(WDR35):c.*231C>A	57539	WDR35	Benign	1056233	RCV000336750\|RCV000406002\|RCV001709604;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900	2	20113088	20113088	2:g.20113088G>T	ClinGen:CA10611914	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*98T>C	57539	WDR35	Benign	6748924	RCV000299020\|RCV000369968\|RCV001712119;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900	2	20113221	20113221	2:g.20113221A>G	ClinGen:CA10611919	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.*16T>C	57539	WDR35	Uncertain significance	1669898811	RCV001141597\|RCV001141596;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113303	20113303	2:g.20113303A>G	-
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)	57539	WDR35	Conflicting interpretations of pathogenicity	147325795	RCV000377253\|RCV001086217;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113365	20113365	2:g.20113365A>C	ClinGen:CA1542655	CN169374 not specified;
NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)	57539	WDR35	Uncertain significance	1669900626	RCV001141599\|RCV001141598\|RCV002557009;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MeSH:D030342,MedGen:C0950123	2	20113368	20113368	2:g.20113368T>G	-
NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)	57539	WDR35	Uncertain significance	774768083	RCV001141601\|RCV001141600\|RCV001882431;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20113372	20113372	2:g.20113372G>C	-
NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)	57539	WDR35	Uncertain significance	-1	RCV002632959;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113377	20113377	NC_000002.11:g.20113377A>C	-
NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)	57539	WDR35	Uncertain significance	-1	RCV002900635;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113378	20113378	NC_000002.11:g.20113378G>A	-
NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)	57539	WDR35	Uncertain significance	-1	RCV003076198;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113384	20113384	NC_000002.11:g.20113384C>T	-
NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)	57539	WDR35	Uncertain significance	-1	RCV002974863;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113393	20113393	NC_000002.11:g.20113393A>G	-
NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)	57539	WDR35	Uncertain significance	978909925	RCV000754964\|RCV002531368;	N	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500, Orphanet:289\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113420	20113420	NC_000002.11:g.20113420C>T	-
NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)	57539	WDR35	Uncertain significance	1558317742	RCV000688867;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113434	20113434	NC_000002.11:g.20113434C>T	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)	57539	WDR35	Likely benign	-1	RCV002585443;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113436	20113436		-
NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)	57539	WDR35	Uncertain significance	1558317812	RCV001964629;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113447	20113447	20113447	-
NM_020779.4(WDR35):c.3363-9G>A	57539	WDR35	Likely benign	375053867	RCV002153990;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113478	20113478	20113478	-
NM_020779.4(WDR35):c.3363-11C>A	57539	WDR35	Likely benign	2103377636	RCV002166598;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113480	20113480	20113480	-
NM_020779.4(WDR35):c.3363-15C>T	57539	WDR35	Likely benign	763500770	RCV002208113;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113484	20113484	20113484	-
NM_020779.4(WDR35):c.3362+6C>T	57539	WDR35	Uncertain significance	-1	RCV003029518;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113792	20113792	NC_000002.11:g.20113792G>A	-
NM_020779.4(WDR35):c.3349A>G (p.Ser1117Gly)	57539	WDR35	Uncertain significance	369515554	RCV001903291;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113811	20113811	20113811	-
NM_020779.4(WDR35):c.3340G>A (p.Glu1114Lys)	57539	WDR35	Uncertain significance	2103378015	RCV001926493;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113820	20113820	20113820	-
NM_020779.4(WDR35):c.3335A>G (p.Lys1112Arg)	57539	WDR35	Conflicting interpretations of pathogenicity	138007924	RCV000508424\|RCV000964762;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113825	20113825	NC_000002.11:g.20113825T>C	ClinGen:CA1542695	CN169374 not specified;
NM_020779.4(WDR35):c.3322A>G (p.Lys1108Glu)	57539	WDR35	Uncertain significance	-1	RCV002876307\|RCV003236940;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:CN517202	2	20113838	20113838	NC_000002.11:g.20113838T>C	-
NM_020779.4(WDR35):c.3307A>T (p.Thr1103Ser)	57539	WDR35	Uncertain significance	774898515	RCV001972940;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113853	20113853	20113853	-
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His)	57539	WDR35	Conflicting interpretations of pathogenicity	148436608	RCV000311978\|RCV000405190\|RCV000945632\|RCV001660692\|RCV002278514;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20113881	20113881	2:g.20113881C>G	ClinGen:CA1542706	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)	57539	WDR35	Likely benign	-1	RCV002619020;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113893	20113893		-
NM_020779.4(WDR35):c.3254C>A (p.Thr1085Asn)	57539	WDR35	Uncertain significance	190070503	RCV001315753;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113906	20113906	20113906	-
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=)	57539	WDR35	Conflicting interpretations of pathogenicity	182360785	RCV000352423\|RCV001088237;	N	MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113908	20113908	2:g.20113908C>T	ClinGen:CA1542711	CN169374 not specified;
NM_020779.4(WDR35):c.3207C>T (p.Ala1069=)	57539	WDR35	Likely benign	748710979	RCV001489219;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20113953	20113953	20113953	-
NM_020779.4(WDR35):c.3195C>T (p.Cys1065=)	57539	WDR35	Likely benign	375805945	RCV002540831;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113965	20113965	2:g.20113965G>A	-
NM_020779.4(WDR35):c.3193T>A (p.Cys1065Ser)	57539	WDR35	Uncertain significance	200258619	RCV000272118\|RCV000368976\|RCV001861144\|RCV002521354;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20113967	20113967	2:g.20113967A>T	ClinGen:CA1542723	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.3190G>A (p.Ala1064Thr)	57539	WDR35	Uncertain significance	759338583	RCV001906339;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113970	20113970	20113970	-
NM_020779.4(WDR35):c.3189C>T (p.Cys1063=)	57539	WDR35	Likely benign	1295936600	RCV002096332;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113971	20113971	20113971	-
NM_020779.4(WDR35):c.3162G>A (p.Val1054=)	57539	WDR35	Uncertain significance	2103378366	RCV001871372;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113998	20113998	20113998	-
NM_020779.4(WDR35):c.3136G>C (p.Asp1046His)	57539	WDR35	Conflicting interpretations of pathogenicity	200760434	RCV001143423\|RCV001143422\|RCV002557054;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20114024	20114024	2:g.20114024C>G	-
NM_020779.4(WDR35):c.3122-3T>C	57539	WDR35	Conflicting interpretations of pathogenicity	751769266	RCV000827170\|RCV001858418;	N	MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20114041	20114041	2:g.20114041A>G	-
NM_020779.4(WDR35):c.3122-16G>C	57539	WDR35	Likely benign	-1	RCV002690563;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20114054	20114054	NC_000002.11:g.20114054C>G	-
NM_020779.4(WDR35):c.3121+12A>C	57539	WDR35	Benign	28502265	RCV000329579\|RCV000362713\|RCV000613733\|RCV002057630;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20130145	20130145	2:g.20130145T>G	ClinGen:CA1542747	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.3121+10T>C	57539	WDR35	Likely benign	-1	RCV002814564;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20130147	20130147	NC_000002.11:g.20130147A>G	-
NM_020779.4(WDR35):c.3121+3G>A	57539	WDR35	Likely benign	200042577	RCV000270942\|RCV000323605\|RCV000331902\|RCV000878289\|RCV001573020;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20130154	20130154	2:g.20130154C>T	ClinGen:CA1542749	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)	57539	WDR35	Uncertain significance	-1	RCV003019010;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130161	20130161	NC_000002.11:g.20130161C>A	-
NM_020779.4(WDR35):c.3034G>C (p.Ala1012Pro)	57539	WDR35	Uncertain significance	-1	RCV002301348;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130244	20130244	20130244	-
NM_020779.4(WDR35):c.3026C>G (p.Thr1009Arg)	57539	WDR35	Uncertain significance	201153804	RCV000283688\|RCV000380540\|RCV001058852\|RCV001731614;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20130252	20130252	2:g.20130252G>C	ClinGen:CA1542761	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.3026C>T (p.Thr1009Ile)	57539	WDR35	Uncertain significance	201153804	RCV001878650;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20130252	20130252	20130252	-
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys)	57539	WDR35	Benign	56395266	RCV000506222\|RCV001136858\|RCV001136859\|RCV001683547\|RCV002279295;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C31508	2	20130259	20130259	2:g.20130259G>A	ClinGen:CA1542764	CN169374 not specified;
NM_020779.4(WDR35):c.3003T>A (p.Val1001=)	57539	WDR35	Likely benign	-1	RCV003065546;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20130275	20130275		-
NM_020779.4(WDR35):c.2993AAG[2] (p.Glu1000del)	57539	WDR35	Uncertain significance	746953019	RCV001888914;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130277	20130279	20130276	-
NM_020779.4(WDR35):c.2999A>T (p.Glu1000Val)	57539	WDR35	Uncertain significance	370951527	RCV001136860\|RCV001136861\|RCV001306023;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20130279	20130279	2:g.20130279T>A	-
NM_020779.4(WDR35):c.2994A>G (p.Glu998=)	57539	WDR35	Likely benign	2103396034	RCV001408815;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20130284	20130284	20130284	-
NM_020779.4(WDR35):c.2984G>T (p.Gly995Val)	57539	WDR35	Uncertain significance	376284452	RCV000322376\|RCV000374606;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130294	20130294	2:g.20130294C>A	ClinGen:CA1542770	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2968A>G (p.Thr990Ala)	57539	WDR35	Uncertain significance	1184414721	RCV001243953;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130310	20130310	2:g.20130310T>C	-
NM_020779.4(WDR35):c.2965-4G>T	57539	WDR35	Conflicting interpretations of pathogenicity	199696980	RCV000282531\|RCV000334458\|RCV002057631;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20130317	20130317	2:g.20130317C>A	ClinGen:CA1542772	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2964+17_2964+18delinsGG	57539	WDR35	Uncertain significance	-1	RCV002904874;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131012	20131013	NC_000002.11:g.20131012_20131013delinsCC	-
NM_020779.4(WDR35):c.2964+14T>A	57539	WDR35	Likely benign	-1	RCV002595122;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131016	20131016	NC_000002.11:g.20131016A>T	-
NM_020779.4(WDR35):c.2964+13G>A	57539	WDR35	Likely benign	557213514	RCV002183434;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131017	20131017	20131017	-
NM_020779.4(WDR35):c.2964+12C>T	57539	WDR35	Benign/Likely benign	113663112	RCV001139094\|RCV001139095\|RCV002070640;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20131018	20131018	2:g.20131018G>A	-
NM_020779.4(WDR35):c.2964+10C>A	57539	WDR35	Conflicting interpretations of pathogenicity	201207790	RCV000500670\|RCV000727423\|RCV001088989\|RCV001139096\|RCV001139097;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:001356	2	20131020	20131020	2:g.20131020G>T	ClinGen:CA1542797	CN169374 not specified;
NM_020779.4(WDR35):c.2960C>T (p.Ser987Leu)	57539	WDR35	Uncertain significance	750968053	RCV002001609;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131034	20131034	20131034	-
NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln)	57539	WDR35	Conflicting interpretations of pathogenicity	138076014	RCV001039598\|RCV002051911\|RCV002551451;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	2	20131058	20131058	2:g.20131058C>T	-
NM_020779.4(WDR35):c.2930C>T (p.Ala977Val)	57539	WDR35	Uncertain significance	754516323	RCV001888990;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131064	20131064	20131064	-
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)	57539	WDR35	Benign	1191778	RCV000154141\|RCV000351966\|RCV000986592\|RCV001511616;	N	MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20131079	20131079	2:g.20131079T>C	ClinGen:CA180497,UniProtKB:Q9P2L0#VAR_053429	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2913T>C (p.His971=)	57539	WDR35	Likely benign	561223092	RCV001416196;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131081	20131081	2:g.20131081A>G	-
NM_020779.4(WDR35):c.2900T>C (p.Ile967Thr)	57539	WDR35	Uncertain significance	776936691	RCV001938275;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131094	20131094	20131094	-
NM_020779.4(WDR35):c.2891C>G (p.Ala964Gly)	57539	WDR35	Uncertain significance	1281384371	RCV001994215;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131103	20131103	20131103	-
NM_020779.4(WDR35):c.2877C>G (p.Leu959=)	57539	WDR35	Likely benign	139447814	RCV001471052;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131117	20131117	2:g.20131117G>C	-
NM_020779.4(WDR35):c.2864G>A (p.Arg955His)	57539	WDR35	Uncertain significance	780666056	RCV001949826;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131130	20131130	20131130	-
NM_020779.4(WDR35):c.2856A>G (p.Lys952=)	57539	WDR35	Uncertain significance	755843830	RCV001998767;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131138	20131138	20131138	-
NM_020779.4(WDR35):c.2844G>A (p.Lys948=)	57539	WDR35	Likely benign	-1	RCV003006188;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131150	20131150		-
NM_020779.4(WDR35):c.2836G>A (p.Glu946Lys)	57539	WDR35	Uncertain significance	779009587	RCV000312305\|RCV000364596;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131158	20131158	2:g.20131158C>T	ClinGen:CA1542825	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2835A>G (p.Glu945=)	57539	WDR35	Benign	182928585	RCV000951813;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20131159	20131159	2:g.20131159T>C	-
NM_020779.4(WDR35):c.2824-14G>T	57539	WDR35	Benign	1191779	RCV000154143\|RCV000306608\|RCV000405575\|RCV002056050;	N	MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20131184	20131184	2:g.20131184C>A	ClinGen:CA180499	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2823G>A (p.Lys941=)	57539	WDR35	Uncertain significance	2103398260	RCV001884817\|RCV003136270;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900	2	20132044	20132044	20132044	-
NM_020779.4(WDR35):c.2800G>A (p.Asp934Asn)	57539	WDR35	Uncertain significance	376786810	RCV001314453;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132067	20132067	20132067	-
NM_020779.4(WDR35):c.2798T>C (p.Phe933Ser)	57539	WDR35	Uncertain significance	2103398314	RCV002031651;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132069	20132069	20132069	-
NM_020779.4(WDR35):c.2780G>A (p.Arg927Gln)	57539	WDR35	Uncertain significance	754997630	RCV002002646;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20132087	20132087	20132087	-
NM_020779.4(WDR35):c.2779C>T (p.Arg927Trp)	57539	WDR35	Uncertain significance	149815363	RCV001940804;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20132088	20132088	20132088	-
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)	57539	WDR35	Conflicting interpretations of pathogenicity	75602337	RCV000176461\|RCV000266710\|RCV000363678\|RCV001078877;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20132090	20132090	2:g.20132090T>C	ClinGen:CA242420	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2760T>A (p.Leu920=)	57539	WDR35	Likely benign	1405610639	RCV002083562;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132107	20132107	20132107	-
NM_020779.4(WDR35):c.2746A>G (p.Lys916Glu)	57539	WDR35	Uncertain significance	2103398404	RCV001913445;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20132121	20132121	20132121	-
NM_020779.4(WDR35):c.2739A>G (p.Leu913=)	57539	WDR35	Likely benign	774699751	RCV002162672;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132128	20132128	20132128	-
NM_020779.4(WDR35):c.2726A>G (p.Tyr909Cys)	57539	WDR35	Uncertain significance	369793891	RCV001895142;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20132141	20132141	20132141	-
NM_020779.4(WDR35):c.2691T>C (p.His897=)	57539	WDR35	Likely benign	1192258496	RCV002107568;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132176	20132176	20132176	-
NM_020779.4(WDR35):c.2681C>T (p.Ala894Val)	57539	WDR35	Uncertain significance	1670554390	RCV001049475;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132186	20132186	2:g.20132186G>A	-
NM_020779.4(WDR35):c.2678T>C (p.Leu893Ser)	57539	WDR35	Conflicting interpretations of pathogenicity	151047156	RCV000324159\|RCV000358005\|RCV000733656\|RCV001480464;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20132189	20132189	2:g.20132189A>G	ClinGen:CA1542859	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2672T>C (p.Val891Ala)	57539	WDR35	Uncertain significance	370706293	RCV000815151;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20132195	20132195	2:g.20132195A>G	-
NM_020779.4(WDR35):c.2659-19G>A	57539	WDR35	Likely benign	749563049	RCV002173323;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20132227	20132227	20132227	-
NM_020779.4(WDR35):c.2644G>A (p.Val882Ile)	57539	WDR35	Uncertain significance	377535267	RCV001906839;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20133176	20133176	20133176	-
NM_020779.4(WDR35):c.2643C>T (p.Cys881=)	57539	WDR35	Likely benign	776211441	RCV002085964;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133177	20133177	20133177	-
NM_020779.4(WDR35):c.2627C>G (p.Ala876Gly)	57539	WDR35	Uncertain significance	199849430	RCV002000847;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20133193	20133193	20133193	-
NM_020779.4(WDR35):c.2622A>C (p.Pro874=)	57539	WDR35	Likely benign	766138190	RCV002158352;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133198	20133198	20133198	-
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)	57539	WDR35	Benign	2293669	RCV000265624\|RCV000986593\|RCV001515389\|RCV001712120\|RCV001723921;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20133221	20133221	2:g.20133221C>T	ClinGen:CA1542901,UniProtKB:Q9P2L0#VAR_062103	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2592A>G (p.Ala864=)	57539	WDR35	Likely benign	750654551	RCV002084571;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133228	20133228	20133228	-
NM_020779.4(WDR35):c.2580G>A (p.Met860Ile)	57539	WDR35	Uncertain significance	201443916	RCV000648350;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133240	20133240	NC_000002.11:g.20133240C>T	ClinGen:CA1542904	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.2575G>C (p.Gly859Arg)	57539	WDR35	Uncertain significance	2103399882	RCV001888740;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133245	20133245	20133245	-
NM_020779.4(WDR35):c.2573T>C (p.Val858Ala)	57539	WDR35	Conflicting interpretations of pathogenicity	759587265	RCV000954000\|RCV001491396\|RCV003243382;	N	MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MeSH:D030342,MedGen:C0950123	2	20133247	20133247	2:g.20133247A>G	-
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe)	57539	WDR35	Benign	149667250	RCV000079360\|RCV000279775\|RCV000375441\|RCV000545999\|RCV001711226;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20133254	20133254	2:g.20133254C>A	ClinGen:CA146986	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2559A>T (p.Gln853His)	57539	WDR35	Uncertain significance	-1	RCV003027131;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133261	20133261	NC_000002.11:g.20133261T>A	-
NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)	57539	WDR35	Uncertain significance	-1	RCV002976061;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20133269	20133269	NC_000002.11:g.20133269T>C	-
NM_020779.4(WDR35):c.2538G>A (p.Lys846=)	57539	WDR35	Likely benign	-1	RCV002999933;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135241	20135241		-
NM_020779.4(WDR35):c.2524C>T (p.Pro842Ser)	57539	WDR35	Uncertain significance	777217654	RCV000521433\|RCV001343605;	N	MedGen:CN517202\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135255	20135255	2:g.20135255G>A	ClinGen:CA1542925	CN169374 not specified;
NM_020779.4(WDR35):c.2523T>C (p.Leu841=)	57539	WDR35	Likely benign	-1	RCV003083049;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135256	20135256		-
NM_020779.4(WDR35):c.2515A>G (p.Ile839Val)	57539	WDR35	Uncertain significance	763618858	RCV000332425\|RCV000389282\|RCV001850796;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20135264	20135264	2:g.20135264T>C	ClinGen:CA1542926	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2496A>G (p.Glu832=)	57539	WDR35	Benign	6741091	RCV000252482\|RCV000292631\|RCV000349787\|RCV001521673;	N	MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20135283	20135283	2:g.20135283T>C	ClinGen:CA1542928	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2492A>G (p.Tyr831Cys)	57539	WDR35	Uncertain significance	886055403	RCV000291410\|RCV000392435;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135287	20135287	2:g.20135287T>C	ClinGen:CA10612304	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2458C>T (p.Arg820Cys)	57539	WDR35	Uncertain significance	141190788	RCV001797215\|RCV001885226;	N	MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135321	20135321	20135321	-
NM_020779.4(WDR35):c.2456A>G (p.Glu819Gly)	57539	WDR35	Uncertain significance	139352103	RCV001908051\|RCV002469419;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900	2	20135323	20135323	20135323	-
NM_020779.4(WDR35):c.2455G>A (p.Glu819Lys)	57539	WDR35	Uncertain significance	768049606	RCV001136957\|RCV001136958;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135324	20135324	2:g.20135324C>T	-
NM_020779.4(WDR35):c.2447G>A (p.Arg816Gln)	57539	WDR35	Uncertain significance	539243373	RCV001222931\|RCV001586066;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900	2	20135332	20135332	2:g.20135332C>T	-
NM_020779.4(WDR35):c.2446C>T (p.Arg816Trp)	57539	WDR35	Uncertain significance	374027943	RCV000522912\|RCV002525204;	N	MedGen:CN517202\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135333	20135333	2:g.20135333G>A	ClinGen:CA1542942	CN169374 not specified;
NM_020779.4(WDR35):c.2446C>A (p.Arg816=)	57539	WDR35	Likely benign	374027943	RCV002095210;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135333	20135333	20135333	-
NM_020779.4(WDR35):c.2430A>G (p.Gln810=)	57539	WDR35	Likely benign	-1	RCV003063229;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135349	20135349		-
NM_020779.4(WDR35):c.2414+20C>T	57539	WDR35	Benign/Likely benign	116756504	RCV001555613\|RCV002072078;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135960	20135960	20135960	-
NM_020779.4(WDR35):c.2408A>G (p.Gln803Arg)	57539	WDR35	Uncertain significance	2103403345	RCV001888520;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20135986	20135986	20135986	-
NM_020779.4(WDR35):c.2400T>C (p.Ala800=)	57539	WDR35	Uncertain significance	886055404	RCV000343945\|RCV000392437;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20135994	20135994	NC_000002.11:g.20135994A>G	ClinGen:CA10611921	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2385T>C (p.Ile795=)	57539	WDR35	Likely benign	-1	RCV002720469;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20136009	20136009		-
NM_020779.4(WDR35):c.2358T>A (p.Ser786Arg)	57539	WDR35	Uncertain significance	-1	RCV002569881;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20136036	20136036	NC_000002.11:g.20136036A>T	-
NM_020779.4(WDR35):c.2356A>C (p.Ser786Arg)	57539	WDR35	Uncertain significance	748153278	RCV001348875;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20136038	20136038	20136038	-
NM_020779.4(WDR35):c.2326C>T (p.Leu776=)	57539	WDR35	Likely benign	772138388	RCV000879237;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20136068	20136068	2:g.20136068G>A	-
NM_020779.4(WDR35):c.2298G>A (p.Leu766=)	57539	WDR35	Uncertain significance	1287745296	RCV001139213\|RCV001139214;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20136096	20136096	2:g.20136096C>T	-
NM_020779.4(WDR35):c.2288G>A (p.Arg763Gln)	57539	WDR35	Uncertain significance	1670696748	RCV002036339;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20136106	20136106	20136106	-
NM_020779.4(WDR35):c.2278A>G (p.Ile760Val)	57539	WDR35	Uncertain significance	370956261	RCV001339728;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20136116	20136116	20136116	-
NM_020779.4(WDR35):c.2272C>G (p.Leu758Val)	57539	WDR35	Uncertain significance	1670697417	RCV001294359;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20136122	20136122	20136122	-
NM_020779.4(WDR35):c.2268-11T>G	57539	WDR35	Conflicting interpretations of pathogenicity	745664606	RCV000304088\|RCV000342664\|RCV002057632;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20136137	20136137	NC_000002.11:g.20136137A>C	ClinGen:CA10613448	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2267+15C>T	57539	WDR35	Uncertain significance	1374046467	RCV001984723;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137489	20137489	20137489	-
NM_020779.4(WDR35):c.2267+9T>C	57539	WDR35	Conflicting interpretations of pathogenicity	376307803	RCV000886470\|RCV001139215\|RCV001139216;	N	MedGen:CN517202\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137495	20137495	2:g.20137495A>G	-
NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)	57539	WDR35	Uncertain significance	-1	RCV003056577\|RCV003147817;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137507	20137507	NC_000002.11:g.20137507C>G	-
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)	57539	WDR35	Benign/Likely benign	147206032	RCV000302964\|RCV000404880\|RCV000878114\|RCV001569598;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20137509	20137509	NC_000002.11:g.20137509G>A	ClinGen:CA1543008	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2254G>A (p.Glu752Lys)	57539	WDR35	Uncertain significance	756006241	RCV001902964;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137517	20137517	20137517	-
NM_020779.4(WDR35):c.2230G>A (p.Glu744Lys)	57539	WDR35	Uncertain significance	1420842472	RCV002025959;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137541	20137541	20137541	-
NM_020779.4(WDR35):c.2220C>T (p.Phe740=)	57539	WDR35	Conflicting interpretations of pathogenicity	535522970	RCV000262901\|RCV000355426\|RCV002521355;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20137551	20137551	NC_000002.11:g.20137551G>A	ClinGen:CA1543017	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2213G>T (p.Gly738Val)	57539	WDR35	Uncertain significance	-1	RCV002751066;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137558	20137558	NC_000002.11:g.20137558C>A	-
NM_020779.4(WDR35):c.2194A>C (p.Lys732Gln)	57539	WDR35	Uncertain significance	748476979	RCV001141827\|RCV001141828;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137577	20137577	2:g.20137577T>G	-
NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)	57539	WDR35	Uncertain significance	-1	RCV003090353;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137578	20137578	NC_000002.11:g.20137578C>G	-
NM_020779.4(WDR35):c.2191A>G (p.Met731Val)	57539	WDR35	Uncertain significance	-1	RCV002612044;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137580	20137580	NC_000002.11:g.20137580T>C	-
NM_020779.4(WDR35):c.2190A>G (p.Ser730=)	57539	WDR35	Likely benign	-1	RCV003045323;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137581	20137581		-
NM_020779.4(WDR35):c.2165G>A (p.Arg722His)	57539	WDR35	Uncertain significance	758991146	RCV001141829\|RCV001141830;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137606	20137606	2:g.20137606C>T	-
NM_020779.4(WDR35):c.2164C>T (p.Arg722Cys)	57539	WDR35	Uncertain significance	374073530	RCV001002153\|RCV001351708\|RCV002264992;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN517202	2	20137607	20137607	2:g.20137607G>A	-
NM_020779.4(WDR35):c.2157T>C (p.Phe719=)	57539	WDR35	Likely benign	755951192	RCV001487958;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137614	20137614	20137614	-
NM_020779.4(WDR35):c.2154G>A (p.Lys718=)	57539	WDR35	Likely benign	2103405404	RCV001447522;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137617	20137617	20137617	-
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val)	57539	WDR35	Benign/Likely benign	144493712	RCV000176044\|RCV000297051\|RCV000355002\|RCV000554501\|RCV001711973;	N	MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20137622	20137622	2:g.20137622T>C	ClinGen:CA201768	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2149A>C (p.Ile717Leu)	57539	WDR35	Uncertain significance	144493712	RCV001350529\|RCV003229049;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN517202	2	20137622	20137622	20137622	-
NM_020779.4(WDR35):c.2137G>A (p.Asp713Asn)	57539	WDR35	Uncertain significance	778732776	RCV000276589\|RCV000334125;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137634	20137634	NC_000002.11:g.20137634C>T	ClinGen:CA1543031	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)	57539	WDR35	Uncertain significance	-1	RCV003002474;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137636	20137636	NC_000002.11:g.20137636T>C	-
NM_020779.4(WDR35):c.2129G>T (p.Arg710Leu)	57539	WDR35	Uncertain significance	370797645	RCV000702210;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137642	20137642	NC_000002.11:g.20137642C>A	-	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.2129G>A (p.Arg710His)	57539	WDR35	Uncertain significance	370797645	RCV001583212\|RCV002570828;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137642	20137642	20137642	-
NM_020779.4(WDR35):c.2128C>T (p.Arg710Cys)	57539	WDR35	Uncertain significance	781365658	RCV001555774\|RCV002032612;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137643	20137643	20137643	-
NM_020779.4(WDR35):c.2116C>A (p.Gln706Lys)	57539	WDR35	Uncertain significance	2103405475	RCV001359851;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20137655	20137655	20137655	-
NM_020779.4(WDR35):c.2109T>G (p.Thr703=)	57539	WDR35	Conflicting interpretations of pathogenicity	201822027	RCV000297454\|RCV001479098;	N	MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137662	20137662	2:g.20137662A>C	ClinGen:CA1543035	CN169374 not specified;
NM_020779.4(WDR35):c.2107A>G (p.Thr703Ala)	57539	WDR35	Uncertain significance	886055405	RCV000275532\|RCV000386243;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20137664	20137664	NC_000002.11:g.20137664T>C	ClinGen:CA10613703	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)	57539	WDR35	Conflicting interpretations of pathogenicity	74470618	RCV000194057\|RCV000648352\|RCV001143632\|RCV001143633\|RCV001582689;	N	MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:00133	2	20137705	20137705	NC_000002.11:g.20137705C>T	ClinGen:CA207959	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.2065C>T (p.Arg689Cys)	57539	WDR35	Uncertain significance	140196566	RCV000328331\|RCV000385221\|RCV001850797;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20137706	20137706	NC_000002.11:g.20137706G>A	ClinGen:CA1543041	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.2030A>G (p.Gln677Arg)	57539	WDR35	Uncertain significance	771708013	RCV001342091;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20138059	20138059	20138059	-
NM_020779.4(WDR35):c.2029C>G (p.Gln677Glu)	57539	WDR35	Uncertain significance	775076264	RCV002036446;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138060	20138060	20138060	-
NM_020779.4(WDR35):c.2013A>C (p.Gly671=)	57539	WDR35	Likely benign	2103406014	RCV002077965;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20138076	20138076	20138076	-
NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)	57539	WDR35	Uncertain significance	-1	RCV003087096;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138095	20138095	NC_000002.11:g.20138095G>A	-
NM_020779.4(WDR35):c.1991G>A (p.Arg664Gln)	57539	WDR35	Uncertain significance	750367225	RCV001972081;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20138098	20138098	20138098	-
NM_020779.4(WDR35):c.1972C>T (p.Arg658Trp)	57539	WDR35	Uncertain significance	754056303	RCV001207585;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20138117	20138117	2:g.20138117G>A	-
NM_020779.4(WDR35):c.1950T>C (p.Asp650=)	57539	WDR35	Likely benign	2103406174	RCV002127677;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138139	20138139	20138139	-
NM_020779.4(WDR35):c.1937A>G (p.His646Arg)	57539	WDR35	Uncertain significance	-1	RCV002885945;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138152	20138152	NC_000002.11:g.20138152T>C	-
NM_020779.4(WDR35):c.1930C>G (p.Pro644Ala)	57539	WDR35	Uncertain significance	758919526	RCV000434466\|RCV002480326;	N	MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20138159	20138159	2:g.20138159G>C	ClinGen:CA1543078	CN169374 not specified;
NM_020779.4(WDR35):c.1901C>A (p.Ser634Tyr)	57539	WDR35	Uncertain significance	-1	RCV002882132\|RCV003138375;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN517202	2	20141545	20141545	NC_000002.11:g.20141545G>T	-
NM_020779.4(WDR35):c.1871T>G (p.Ile624Ser)	57539	WDR35	Uncertain significance	139252416	RCV000345873\|RCV000379442\|RCV000479557\|RCV002521356;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20141575	20141575	NC_000002.11:g.20141575A>C	ClinGen:CA1543094	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1866A>G (p.Gly622=)	57539	WDR35	Uncertain significance	2103410659	RCV001998007;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20141580	20141580	20141580	-
NM_020779.4(WDR35):c.1861T>C (p.Ser621Pro)	57539	WDR35	Likely benign	199882056	RCV001430031;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20141585	20141585	2:g.20141585A>G	-
NM_020779.4(WDR35):c.1860C>T (p.Thr620=)	57539	WDR35	Likely benign	1572333836	RCV000938489;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20141586	20141586	2:g.20141586G>A	-
NM_020779.4(WDR35):c.1846-5T>C	57539	WDR35	Likely benign	2103410724	RCV001416907;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20141605	20141605	20141605	-
NM_020779.4(WDR35):c.1846-7T>A	57539	WDR35	Uncertain significance	1479233566	RCV002000863;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20141607	20141607	20141607	-
NM_020779.4(WDR35):c.1846-11dup	57539	WDR35	Benign	754138477	RCV002132427;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20141610	20141611	20141610	-
NM_020779.4(WDR35):c.1845+16G>A	57539	WDR35	Benign	376710057	RCV002120674;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20145531	20145531	20145531	-
NM_020779.4(WDR35):c.1834T>C (p.Leu612=)	57539	WDR35	Likely benign	-1	RCV003035253;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145558	20145558		-
NM_020779.4(WDR35):c.1798A>G (p.Met600Val)	57539	WDR35	Uncertain significance	751974091	RCV001866327;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20145594	20145594	20145594	-
NM_020779.4(WDR35):c.1755C>T (p.Val585=)	57539	WDR35	Benign/Likely benign	146130105	RCV000756919\|RCV000999908;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN169374	2	20145637	20145637	2:g.20145637G>A	ClinGen:CA1543120	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.1698G>A (p.Thr566=)	57539	WDR35	Likely benign	773559585	RCV001449218;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145694	20145694	2:g.20145694C>T	-
NM_020779.4(WDR35):c.1697C>T (p.Thr566Met)	57539	WDR35	Uncertain significance	780159239	RCV000300086\|RCV000392903\|RCV002521357;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MeSH:D030342,MedGen:C0950123	2	20145695	20145695	NC_000002.11:g.20145695G>A	ClinGen:CA1543130	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1674C>T (p.Phe558=)	57539	WDR35	Likely benign	-1	RCV003079426;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145718	20145718		-
NM_020779.4(WDR35):c.1662A>T (p.Gly554=)	57539	WDR35	Likely benign	767878828	RCV001933721;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145730	20145730	20145730	-
NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)	57539	WDR35	Uncertain significance	-1	RCV003043328;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145738	20145738	NC_000002.11:g.20145738T>G	-
NM_020779.4(WDR35):c.1637G>A (p.Arg546His)	57539	WDR35	Uncertain significance	529313875	RCV001334638\|RCV001865814\|RCV003442851;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900	2	20145755	20145755	20145755	-
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)	57539	WDR35	Uncertain significance	549077153	RCV000338739\|RCV000404364\|RCV001850798\|RCV002521358\|RCV003226922\|RCV002470844;	N	MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505\|MONDO:MONDO:0009032,MedGen:C4551571,OMIM:PS218330, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:9327	2	20145756	20145756	NC_000002.11:g.20145756G>A	ClinGen:CA1543142	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1635-19C>T	57539	WDR35	Likely benign	-1	RCV003091247;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20145776	20145776	NC_000002.11:g.20145776G>A	-
NM_020779.4(WDR35):c.1609C>G (p.Gln537Glu)	57539	WDR35	Uncertain significance	1416766008	RCV001137061\|RCV001137062;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146247	20146247	2:g.20146247G>C	-
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)	57539	WDR35	Benign/Likely benign	113345685	RCV000313381\|RCV000370428\|RCV000878017\|RCV001555209;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20146255	20146255	NC_000002.11:g.20146255C>T	ClinGen:CA1543166	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)	57539	WDR35	Conflicting interpretations of pathogenicity	148242353	RCV000273395\|RCV000312074\|RCV000878115\|RCV001574327;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20146265	20146265	NC_000002.11:g.20146265G>C	ClinGen:CA1543169	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1570G>A (p.Gly524Ser)	57539	WDR35	Uncertain significance	2103416923	RCV001956745;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146286	20146286	20146286	-
NM_020779.4(WDR35):c.1540A>G (p.Thr514Ala)	57539	WDR35	Uncertain significance	2103417008	RCV001959393;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20146316	20146316	20146316	-
NM_020779.4(WDR35):c.1529G>A (p.Arg510His)	57539	WDR35	Uncertain significance	763031783	RCV002034113;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20146327	20146327	20146327	-
NM_020779.4(WDR35):c.1528C>T (p.Arg510Cys)	57539	WDR35	Uncertain significance	1462353387	RCV001370416;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146328	20146328	20146328	-
NM_020779.4(WDR35):c.1527T>C (p.Gly509=)	57539	WDR35	Likely benign	-1	RCV003013190;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20146329	20146329		-
NM_020779.4(WDR35):c.1526G>T (p.Gly509Val)	57539	WDR35	Uncertain significance	398123536	RCV000079359\|RCV001854401\|RCV002514398;	N	MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MeSH:D030342,MedGen:C0950123	2	20146330	20146330	2:g.20146330C>A	ClinGen:CA221421	CN169374 not specified;
NM_020779.4(WDR35):c.1525-15A>C	57539	WDR35	Likely benign	2103417096	RCV002206631;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146346	20146346	20146346	-
NM_020779.4(WDR35):c.1524+11C>A	57539	WDR35	Benign/Likely benign	200213874	RCV001139307\|RCV001139306\|RCV002070654;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20147914	20147914	2:g.20147914G>T	-
NM_020779.4(WDR35):c.1524+11C>T	57539	WDR35	Likely benign	-1	RCV003110470;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20147914	20147914	NC_000002.11:g.20147914G>A	-
NM_020779.4(WDR35):c.1503A>G (p.Ala501=)	57539	WDR35	Likely benign	-1	RCV002949451;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20147946	20147946		-
NM_020779.4(WDR35):c.1471-7A>G	57539	WDR35	Benign/Likely benign	376388391	RCV000506845\|RCV000964763;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20147985	20147985	NC_000002.11:g.20147985T>C	ClinGen:CA1543212	CN169374 not specified;
NM_020779.4(WDR35):c.1471-19A>G	57539	WDR35	Likely benign	1671119977	RCV002191848;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20147997	20147997	20147997	-
NM_020779.4(WDR35):c.1470+6T>C	57539	WDR35	Uncertain significance	1162916086	RCV002036107;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151170	20151170	20151170	-
NM_020779.4(WDR35):c.1446G>A (p.Val482=)	57539	WDR35	Likely benign	569920075	RCV002096378;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151200	20151200	20151200	-
NM_020779.4(WDR35):c.1435A>G (p.Met479Val)	57539	WDR35	Uncertain significance	797046099	RCV000193041\|RCV000724941\|RCV001853122;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151211	20151211	NC_000002.11:g.20151211T>C	ClinGen:CA206270	CN169374 not specified;
NM_020779.4(WDR35):c.1410T>C (p.His470=)	57539	WDR35	Likely benign	1257210913	RCV002112388;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151236	20151236	20151236	-
NM_020779.4(WDR35):c.1401-15T>G	57539	WDR35	Benign	201903683	RCV002088551;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20151260	20151260	20151260	-
NM_020779.4(WDR35):c.1400+6del	57539	WDR35	Uncertain significance	-1	RCV002757004;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153589	20153589	NC_000002.11:g.20153589del	-
NM_020779.4(WDR35):c.1392G>T (p.Gly464=)	57539	WDR35	Uncertain significance	1476590827	RCV001980342;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153603	20153603	20153603	-
NM_020779.4(WDR35):c.1376G>A (p.Arg459Gln)	57539	WDR35	Uncertain significance	146380332	RCV000194637\|RCV001139308\|RCV001139309\|RCV001338425\|RCV001770147;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20153619	20153619	NC_000002.11:g.20153619C>T	ClinGen:CA208942	CN169374 not specified;
NM_020779.4(WDR35):c.1374A>G (p.Thr458=)	57539	WDR35	Likely benign	778066578	RCV002178127;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153621	20153621	20153621	-
NM_020779.4(WDR35):c.1366C>G (p.Gln456Glu)	57539	WDR35	Uncertain significance	-1	RCV002659595;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153629	20153629	NC_000002.11:g.20153629G>C	-
NM_020779.4(WDR35):c.1348A>C (p.Thr450Pro)	57539	WDR35	Uncertain significance	771656961	RCV001141929\|RCV001141930;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20153647	20153647	2:g.20153647T>G	-
NM_020779.4(WDR35):c.1330C>T (p.Arg444Cys)	57539	WDR35	Uncertain significance	148510977	RCV001964222;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153665	20153665	20153665	-
NM_020779.4(WDR35):c.1310C>T (p.Ala437Val)	57539	WDR35	Uncertain significance	1671332812	RCV002039989;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20153685	20153685	20153685	-
NM_020779.4(WDR35):c.1302G>A (p.Ser434=)	57539	WDR35	Likely benign	-1	RCV002633241;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153693	20153693		-
NM_020779.4(WDR35):c.1301C>T (p.Ser434Leu)	57539	WDR35	Uncertain significance	368497711	RCV001331438\|RCV002546477;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153694	20153694	20153694	-
NM_020779.4(WDR35):c.1276A>G (p.Thr426Ala)	57539	WDR35	Uncertain significance	1371644144	RCV002050572;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20153719	20153719	20153719	-
NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)	57539	WDR35	Uncertain significance	-1	RCV003084887;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153725	20153725	NC_000002.11:g.20153725C>T	-
NM_020779.4(WDR35):c.1260A>G (p.Pro420=)	57539	WDR35	Conflicting interpretations of pathogenicity	573958749	RCV001141931\|RCV001141932\|RCV001415310;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20153735	20153735	2:g.20153735T>C	-
NM_020779.4(WDR35):c.1250A>T (p.Asp417Val)	57539	WDR35	Uncertain significance	371757004	RCV000272441\|RCV000364702;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20160320	20160320	NC_000002.11:g.20160320T>A	ClinGen:CA10613449	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)	57539	WDR35	Conflicting interpretations of pathogenicity	144701688	RCV000552845\|RCV000593049\|RCV001141933\|RCV001141934\|RCV001570965;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN169374\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:00133	2	20160322	20160322	NC_000002.11:g.20160322A>C	ClinGen:CA1543288	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.1231T>G (p.Leu411Val)	57539	WDR35	Uncertain significance	1418266904	RCV001143731\|RCV001143730;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20160339	20160339	2:g.20160339A>C	-
NM_020779.4(WDR35):c.1227A>G (p.Thr409=)	57539	WDR35	Conflicting interpretations of pathogenicity	148828104	RCV000317233\|RCV002059130;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20160343	20160343	2:g.20160343T>C	ClinGen:CA1543294	CN169374 not specified;
NM_020779.4(WDR35):c.1220T>C (p.Ile407Thr)	57539	WDR35	Uncertain significance	780584500	RCV001372263;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20160350	20160350	20160350	-
NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)	57539	WDR35	Uncertain significance	-1	RCV002591671;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20162056	20162056		-
NM_001006657.2(WDR35):c.1226C>T (p.Thr409Met)	57539	WDR35	Uncertain significance	143430766	RCV000325069\|RCV000382043\|RCV000731246\|RCV001058851;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20162057	20162057	NC_000002.11:g.20162057G>A	ClinGen:CA1543308	CN119432 Cranioectodermal dysplasia;
NM_001006657.2(WDR35):c.1217T>C (p.Phe406Ser)	57539	WDR35	Uncertain significance	971237623	RCV001364742\|RCV003136032;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900	2	20162066	20162066	20162066	-
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)	57539	WDR35	Conflicting interpretations of pathogenicity	144673252	RCV000154144\|RCV000266638\|RCV000324065\|RCV001087229\|RCV002277305;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20162068	20162068	2:g.20162068T>C	ClinGen:CA235267	CN119432 Cranioectodermal dysplasia;
NM_001006657.2(WDR35):c.1206G>T (p.Glu402Asp)	57539	WDR35	Uncertain significance	762190195	RCV002028531;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20162077	20162077	20162077	-
NM_001006657.2(WDR35):c.1204G>A (p.Glu402Lys)	57539	WDR35	Uncertain significance	553534590	RCV001910671\|RCV002557835;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MeSH:D030342,MedGen:C0950123	2	20162079	20162079	20162079	-
NM_001006657.2(WDR35):c.1203C>T (p.Asn401=)	57539	WDR35	Conflicting interpretations of pathogenicity	142103808	RCV000318761\|RCV001089185;	N	MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20162080	20162080	2:g.20162080G>A	ClinGen:CA1543311	CN169374 not specified;
NM_020779.4(WDR35):c.1194+11C>T	57539	WDR35	Likely benign	-1	RCV002938010;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166474	20166474	NC_000002.11:g.20166474G>A	-
NM_020779.4(WDR35):c.1194+10T>C	57539	WDR35	Likely benign	936831337	RCV002121993;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20166475	20166475	20166475	-
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr)	57539	WDR35	Conflicting interpretations of pathogenicity	143343508	RCV000395590\|RCV000515966\|RCV001086026\|RCV001143732\|RCV001143733\|RCV002278315;	N	MedGen:C3661900\|MONDO:MONDO:0009894,MedGen:C0024507,OMIM:263520\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610,	2	20166496	20166496	2:g.20166496T>A	ClinGen:CA1543330	CN169374 not specified;
NM_020779.4(WDR35):c.1140T>C (p.Thr380=)	57539	WDR35	Likely benign	202056608	RCV001465858;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166539	20166539	20166539	-
NM_020779.4(WDR35):c.1113A>G (p.Lys371=)	57539	WDR35	Uncertain significance	778831561	RCV002028609;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166566	20166566	20166566	-
NM_020779.4(WDR35):c.1104A>G (p.Lys368=)	57539	WDR35	Uncertain significance	745634789	RCV001953348;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166575	20166575	20166575	-
NM_020779.4(WDR35):c.1101A>G (p.Glu367=)	57539	WDR35	Likely benign	-1	RCV003075778;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20166578	20166578		-
NM_020779.4(WDR35):c.1098T>C (p.Asn366=)	57539	WDR35	Likely benign	780105362	RCV001444907;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166581	20166581	2:g.20166581A>G	-
NM_020779.4(WDR35):c.1089G>A (p.Thr363=)	57539	WDR35	Benign	79829477	RCV000284318\|RCV000376464\|RCV000877834\|RCV001636928;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20166590	20166590	NC_000002.11:g.20166590C>T	ClinGen:CA1543347	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1088C>T (p.Thr363Met)	57539	WDR35	Uncertain significance	200341288	RCV002038355;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166591	20166591	20166591	-
NM_020779.4(WDR35):c.1082G>T (p.Trp361Leu)	57539	WDR35	Uncertain significance	2103444974	RCV002034295;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20166597	20166597	20166597	-
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile)	57539	WDR35	Conflicting interpretations of pathogenicity	151227688	RCV000591516\|RCV001137180\|RCV001137179\|RCV001351694;	N	MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20166607	20166607	2:g.20166607C>T	ClinGen:CA1543350	CN169374 not specified;
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro)	57539	WDR35	Benign/Likely benign	76623454	RCV000337062\|RCV000375359\|RCV000507596\|RCV001081195;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:C3661900\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20166621	20166621	NC_000002.11:g.20166621C>G	ClinGen:CA1543351	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1058G>A (p.Arg353His)	57539	WDR35	Uncertain significance	-1	RCV002640313;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166621	20166621	NC_000002.11:g.20166621C>T	-
NM_020779.4(WDR35):c.1053T>C (p.Pro351=)	57539	WDR35	Conflicting interpretations of pathogenicity	74385826	RCV000282180\|RCV000337183\|RCV002057633;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20166626	20166626	NC_000002.11:g.20166626A>G	ClinGen:CA1543355	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala)	57539	WDR35	Conflicting interpretations of pathogenicity	140753861	RCV000592980\|RCV001139418\|RCV001139419\|RCV001370744;	N	MedGen:CN517202\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C327979	2	20166628	20166628	2:g.20166628G>C	ClinGen:CA1543357	CN169374 not specified;
NM_020779.4(WDR35):c.1040C>A (p.Ala347Glu)	57539	WDR35	Uncertain significance	1228739567	RCV001754869\|RCV002540359;	N	MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20166639	20166639	20166639	-
NM_020779.4(WDR35):c.1029T>C (p.Thr343=)	57539	WDR35	Conflicting interpretations of pathogenicity	536150588	RCV000292694\|RCV000407907\|RCV002057634;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20166650	20166650	NC_000002.11:g.20166650A>G	ClinGen:CA1543360	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.1009-18T>A	57539	WDR35	Likely benign	113816809	RCV002104969;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20166688	20166688	20166688	-
NM_020779.4(WDR35):c.1008+10A>C	57539	WDR35	Likely benign	2103448400	RCV002214010;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20169231	20169231	20169231	-
NM_020779.4(WDR35):c.976A>G (p.Ile326Val)	57539	WDR35	Uncertain significance	1438742194	RCV001139420\|RCV001139421;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20169273	20169273	2:g.20169273T>C	-
NM_020779.4(WDR35):c.958C>A (p.Leu320Ile)	57539	WDR35	Uncertain significance	573430534	RCV001139422\|RCV001139423;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20169291	20169291	2:g.20169291G>T	-
NM_020779.4(WDR35):c.946C>T (p.Leu316=)	57539	WDR35	Likely benign	1671968631	RCV002073747;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20169303	20169303	20169303	-
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	57539	WDR35	Conflicting interpretations of pathogenicity	200649783	RCV000516065\|RCV000578486\|RCV000608080\|RCV000755748\|RCV000851218\|RCV001353118\|RCV001764511;	N	MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474\|\|MONDO:MONDO:0800356,MedGen:C4747658\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0015461,MedGen:C0036996, Orphanet:1505\|MONDO:MONDO:0013323,MedG	2	20169317	20169317	NC_000002.11:g.20169317C>A	ClinGen:CA1543388,OMIM:613602.0013	C0265275 Jeune thoracic dystrophy;
NM_020779.4(WDR35):c.920C>T (p.Ser307Phe)	57539	WDR35	Uncertain significance	-1	RCV002806402;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20169329	20169329	NC_000002.11:g.20169329G>A	-
NM_020779.4(WDR35):c.882+10T>A	57539	WDR35	Likely benign	-1	RCV003089671;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173314	20173314	NC_000002.11:g.20173314A>T	-
NM_020779.4(WDR35):c.873G>A (p.Pro291=)	57539	WDR35	Likely benign	-1	RCV002975857;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20173333	20173333		-
NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)	57539	WDR35	Uncertain significance	-1	RCV002939021;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20173334	20173334	NC_000002.11:g.20173334G>A	-
NM_020779.4(WDR35):c.867C>T (p.Tyr289=)	57539	WDR35	Benign	185888517	RCV002066238;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20173339	20173339	2:g.20173339G>A	-
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe)	57539	WDR35	Uncertain significance	200059077	RCV000818716\|RCV001140198\|RCV001140199\|RCV001729713\|RCV002279547;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20173353	20173353	2:g.20173353T>A	-
NM_020779.4(WDR35):c.847G>A (p.Val283Met)	57539	WDR35	Uncertain significance	576085633	RCV000352141\|RCV000407890;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173359	20173359	NC_000002.11:g.20173359C>T	ClinGen:CA1543421	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.837G>C (p.Gln279His)	57539	WDR35	Uncertain significance	764069624	RCV002002999;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173369	20173369	20173369	-
NM_020779.4(WDR35):c.817T>G (p.Phe273Val)	57539	WDR35	Uncertain significance	370377789	RCV001373579;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173389	20173389	20173389	-
NM_020779.4(WDR35):c.798C>T (p.Ser266=)	57539	WDR35	Conflicting interpretations of pathogenicity	141118263	RCV000307756\|RCV000362407\|RCV001490944\|RCV001546601;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20173408	20173408	NC_000002.11:g.20173408G>A	ClinGen:CA1543430	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.796A>G (p.Ser266Gly)	57539	WDR35	Uncertain significance	-1	RCV002472065\|RCV003227075;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN517202	2	20173410	20173410	NC_000002.11:g.20173410T>C	-
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)	57539	WDR35	Benign/Likely benign	142955097	RCV000180197\|RCV000308975\|RCV000406382\|RCV000537286\|RCV001556776\|RCV002277428;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20173436	20173436	2:g.20173436A>G	ClinGen:CA203597	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.766G>A (p.Val256Ile)	57539	WDR35	Uncertain significance	745580829	RCV000264019\|RCV000358828;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20173440	20173440	NC_000002.11:g.20173440C>T	ClinGen:CA1543435	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.765C>T (p.Tyr255=)	57539	WDR35	Benign/Likely benign	117255034	RCV000323799\|RCV000359829\|RCV000950559\|RCV001788201\|RCV002278515;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20173441	20173441	NC_000002.11:g.20173441G>A	ClinGen:CA1543436	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.764A>G (p.Tyr255Cys)	57539	WDR35	Uncertain significance	1228498799	RCV001322698;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173442	20173442	20173442	-
NM_020779.4(WDR35):c.761T>C (p.Met254Thr)	57539	WDR35	Benign/Likely benign	547986777	RCV000925439\|RCV002279645;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0003900,MedGen:C0009782	2	20173445	20173445	2:g.20173445A>G	-
NM_020779.4(WDR35):c.742G>A (p.Val248Ile)	57539	WDR35	Uncertain significance	372968757	RCV001337177;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20173464	20173464	20173464	-
NM_020779.4(WDR35):c.732C>T (p.Asp244=)	57539	WDR35	Likely benign	-1	RCV003055503;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174233	20174233		-
NM_020779.4(WDR35):c.725A>G (p.Glu242Gly)	57539	WDR35	Likely benign	139543775	RCV000552925;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174240	20174240	NC_000002.11:g.20174240T>C	ClinGen:CA1543459	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.722A>G (p.His241Arg)	57539	WDR35	Uncertain significance	138366348	RCV001900114;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174243	20174243	20174243	-
NM_020779.4(WDR35):c.717G>A (p.Met239Ile)	57539	WDR35	Uncertain significance	-1	RCV003007900;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174248	20174248	NC_000002.11:g.20174248C>T	-
NM_020779.4(WDR35):c.681T>C (p.Leu227=)	57539	WDR35	Likely benign	143901897	RCV000950313;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174284	20174284	2:g.20174284A>G	-
NM_020779.4(WDR35):c.670T>C (p.Cys224Arg)	57539	WDR35	Uncertain significance	757871845	RCV001295350\|RCV002469369;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:CN517202	2	20174295	20174295	20174295	-
NM_020779.4(WDR35):c.666T>A (p.Pro222=)	57539	WDR35	Likely benign	987346249	RCV001472801;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174299	20174299	NC_000002.11:g.20174299A>T	ClinGen:CA43426980	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.664C>G (p.Pro222Ala)	57539	WDR35	Uncertain significance	1553322982	RCV000555798;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174301	20174301	2:g.20174301G>C	ClinGen:CA345947214	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.658G>T (p.Val220Leu)	57539	WDR35	Uncertain significance	-1	RCV003084967;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174307	20174307	NC_000002.11:g.20174307C>A	-
NM_020779.4(WDR35):c.657C>T (p.Tyr219=)	57539	WDR35	Likely benign	768183424	RCV002128648;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174308	20174308	20174308	-
NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)	57539	WDR35	Uncertain significance	-1	RCV003034660;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174336	20174336	NC_000002.11:g.20174336A>G	-
NM_020779.4(WDR35):c.628A>G (p.Ile210Val)	57539	WDR35	Uncertain significance	1413290520	RCV002010453;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20174337	20174337	20174337	-
NM_020779.4(WDR35):c.626G>A (p.Gly209Glu)	57539	WDR35	Uncertain significance	1410550467	RCV002005850;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174339	20174339	20174339	-
NM_020779.4(WDR35):c.613A>G (p.Ile205Val)	57539	WDR35	Uncertain significance	-1	RCV002581128\|RCV002596507;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MeSH:D030342,MedGen:C0950123	2	20174352	20174352	NC_000002.11:g.20174352T>C	-
NM_020779.4(WDR35):c.571-3del	57539	WDR35	Likely benign	-1	RCV002780071;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20174397	20174397	NC_000002.11:g.20174399del	-
NM_020779.4(WDR35):c.570+7_570+10del	57539	WDR35	Likely benign	-1	RCV003075605;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20175281	20175284	NC_000002.11:g.20175283TTAC[1]	-
NM_020779.4(WDR35):c.551A>G (p.Asp184Gly)	57539	WDR35	Uncertain significance	370873468	RCV001992864;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20175310	20175310	20175310	-
NM_020779.4(WDR35):c.549C>T (p.Tyr183=)	57539	WDR35	Benign	34169020	RCV000260588\|RCV000315882\|RCV000556548\|RCV001653613\|RCV001723922;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20175312	20175312	2:g.20175312G>A	ClinGen:CA1543499	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.507A>G (p.Lys169=)	57539	WDR35	Conflicting interpretations of pathogenicity	200495720	RCV001142049\|RCV001142048\|RCV001512911;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091,Or	2	20175354	20175354	2:g.20175354T>C	-
NM_020779.4(WDR35):c.497C>T (p.Ala166Val)	57539	WDR35	Uncertain significance	374556044	RCV002006693\|RCV003161169;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MeSH:D030342,MedGen:C0950123	2	20175364	20175364	20175364	-
NM_020779.4(WDR35):c.496G>A (p.Ala166Thr)	57539	WDR35	Uncertain significance	-1	RCV002583554;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20175365	20175365	NC_000002.11:g.20175365C>T	-
NM_020779.4(WDR35):c.489A>G (p.Thr163=)	57539	WDR35	Likely benign	-1	RCV002616476;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20175372	20175372		-
NM_020779.4(WDR35):c.485T>C (p.Val162Ala)	57539	WDR35	Uncertain significance	754439440	RCV001964975;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20175376	20175376	20175376	-
NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)	57539	WDR35	Uncertain significance	-1	RCV003009145;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20175419	20175419	NC_000002.11:g.20175419G>A	-
NM_020779.4(WDR35):c.437-13T>C	57539	WDR35	Conflicting interpretations of pathogenicity	367802842	RCV001137289\|RCV001137290\|RCV001586000\|RCV002070604;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:00133	2	20175437	20175437	2:g.20175437A>G	-
NM_020779.4(WDR35):c.436+18C>T	57539	WDR35	Likely benign	-1	RCV002862432;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178494	20178494	NC_000002.11:g.20178494G>A	-
NM_020779.4(WDR35):c.436+4A>G	57539	WDR35	Uncertain significance	1672290200	RCV001225603;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178508	20178508	2:g.20178508T>C	-
NM_020779.4(WDR35):c.378C>T (p.Asp126=)	57539	WDR35	Likely benign	770081985	RCV001406500;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178570	20178570	20178570	-
NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)	57539	WDR35	Uncertain significance	-1	RCV003036890;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178572	20178572	NC_000002.11:g.20178572C>T	-
NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)	57539	WDR35	Uncertain significance	-1	RCV002619357;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178581	20178581	NC_000002.11:g.20178581A>G	-
NM_020779.4(WDR35):c.355C>T (p.Arg119Cys)	57539	WDR35	Conflicting interpretations of pathogenicity	140308808	RCV000280618\|RCV000375021\|RCV000356360\|RCV000767100\|RCV001085930;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:001356	2	20178593	20178593	2:g.20178593G>A	ClinGen:CA1543553	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.339A>G (p.Arg113=)	57539	WDR35	Likely benign	750227579	RCV002090888;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178609	20178609	20178609	-
NM_020779.4(WDR35):c.333C>T (p.Asn111=)	57539	WDR35	Likely benign	-1	RCV002904106;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20178615	20178615		-
NM_020779.4(WDR35):c.318T>C (p.Ile106=)	57539	WDR35	Benign/Likely benign	115963122	RCV000593685\|RCV000878629\|RCV001584403;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MedGen:C3661900	2	20178630	20178630	2:g.20178630A>G	ClinGen:CA1543558	CN169374 not specified;
NM_020779.4(WDR35):c.308G>C (p.Gly103Ala)	57539	WDR35	Uncertain significance	886055406	RCV000330503\|RCV000389678;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178640	20178640	NC_000002.11:g.20178640C>G	ClinGen:CA10611946	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.308G>T (p.Gly103Val)	57539	WDR35	Uncertain significance	886055406	RCV001041433;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20178640	20178640	2:g.20178640C>A	-
NM_020779.4(WDR35):c.297G>A (p.Met99Ile)	57539	WDR35	Uncertain significance	779065567	RCV001978650;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20180462	20180462	20180462	-
NM_020779.4(WDR35):c.288T>C (p.Ile96=)	57539	WDR35	Likely benign	-1	RCV002890594;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20180471	20180471		-
NM_020779.4(WDR35):c.287T>C (p.Ile96Thr)	57539	WDR35	Uncertain significance	1388421523	RCV001890653;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20180472	20180472	20180472	-
NM_020779.4(WDR35):c.273A>G (p.Glu91=)	57539	WDR35	Uncertain significance	1558360162	RCV001137291\|RCV001137292;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20180486	20180486	2:g.20180486T>C	-
NM_020779.4(WDR35):c.259A>T (p.Thr87Ser)	57539	WDR35	Uncertain significance	2103463081	RCV001890839;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20180500	20180500	20180500	-
NM_020779.4(WDR35):c.215-4C>G	57539	WDR35	Conflicting interpretations of pathogenicity	369080910	RCV000295469\|RCV000345746\|RCV002521359;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20180548	20180548	NC_000002.11:g.20180548G>C	ClinGen:CA1543591	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.197C>T (p.Thr66Ile)	57539	WDR35	Uncertain significance	143397737	RCV001912402;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20182241	20182241	20182241	-
NM_020779.4(WDR35):c.147T>C (p.Asp49=)	57539	WDR35	Likely benign	1672416502	RCV002202328;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20182291	20182291	20182291	-
NM_020779.4(WDR35):c.143-4T>C	57539	WDR35	Conflicting interpretations of pathogenicity	1180620404	RCV000731282\|RCV002067115;	N	MedGen:CN517202\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20182299	20182299	NC_000002.11:g.20182299A>G	-
NM_020779.4(WDR35):c.142+10T>C	57539	WDR35	Benign	186647997	RCV001514017;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20188916	20188916	2:g.20188916A>G	-
NM_020779.4(WDR35):c.142+5A>G	57539	WDR35	Uncertain significance	762617889	RCV002006665;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188921	20188921	20188921	-
NM_020779.4(WDR35):c.141A>G (p.Thr47=)	57539	WDR35	Uncertain significance	-1	RCV002664047;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20188927	20188927		-
NM_020779.4(WDR35):c.135G>A (p.Thr45=)	57539	WDR35	Likely benign	773319707	RCV001428833;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188933	20188933	20188933	-
NM_020779.4(WDR35):c.100G>A (p.Glu34Lys)	57539	WDR35	Uncertain significance	1572375239	RCV001957966;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188968	20188968	20188968	-
NM_020779.4(WDR35):c.81G>A (p.Gly27=)	57539	WDR35	Likely benign	1303835293	RCV002110672;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20188987	20188987	20188987	-
NM_020779.4(WDR35):c.66G>T (p.Trp22Cys)	57539	WDR35	Uncertain significance	201860485	RCV001139537\|RCV001139536\|RCV002559348\|RCV002559347;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C31508	2	20189002	20189002	2:g.20189002C>A	-
NM_020779.4(WDR35):c.30C>T (p.Ser10=)	57539	WDR35	Likely benign	1672670437	RCV002139282;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20189038	20189038	20189038	-
NM_020779.4(WDR35):c.25-17T>C	57539	WDR35	Likely benign	-1	RCV003016605;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20189060	20189060	NC_000002.11:g.20189060A>G	-
NM_020779.4(WDR35):c.25-46G>A	57539	WDR35	Benign	3731663	RCV000247541\|RCV001658188\|RCV002244072\|RCV002244073;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20189089	20189089	2:g.20189089C>T	ClinGen:CA1543658	CN169374 not specified;
NM_020779.4(WDR35):c.24+17dup	57539	WDR35	Benign	-1	RCV002624882;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20189735	20189736	NC_000002.11:g.20189741dup	-
NM_020779.4(WDR35):c.24+9C>T	57539	WDR35	Likely benign	754703472	RCV002174273;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515; MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20189744	20189744	20189744	-
NM_020779.4(WDR35):c.24+4A>G	57539	WDR35	Uncertain significance	780961583	RCV000346522\|RCV000391056;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271	2	20189749	20189749	NC_000002.11:g.20189749T>C	ClinGen:CA1543671	CN119432 Cranioectodermal dysplasia;
NM_020779.4(WDR35):c.10T>C (p.Tyr4His)	57539	WDR35	Uncertain significance	772365561	RCV000796755\|RCV003353026;	N	MONDO:MONDO:0013569,MedGen:C3279792,OMIM:614091, Orphanet:498497, Orphanet:93271; MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MeSH:D030342,MedGen:C0950123	2	20189767	20189767	2:g.20189767A>G	-

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