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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: cranioectodermal dysplasia (MONDO:0009032)
..Starting node ..cranioectodermal dysplasia 2 ()
Child Nodes:
Sister Nodes:
..cranioectodermal dysplasia 1 ()
..cranioectodermal dysplasia 2 ()
..cranioectodermal dysplasia 3 ()
..cranioectodermal dysplasia 4 ()
..short-rib thoracic dysplasia 16 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:

13323

Name:

cranioectodermal dysplasia 2

Definition:

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.

Alternative IDs:

613610

ParentIDs:

TreeNumbers:

Synonyms:

CED2; cranioectodermal dysplasia 2; CRANIOECTODERMAL dysplasia 2; CED2; cranioectodermal dysplasia caused by mutation in WDR35; Cranioectodermal dysplasia type 2; WDR35 cranioectodermal dysplasia

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 613610;
MSeqDR :
Genes: WDR35;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000377	Abnormality of the pinna
3	HP:0000581	Blepharophimosis
4	HP:0001156	Brachydactyly
5	HP:0001363	Craniosynostosis
6	HP:0000268	Dolichocephaly
7	HP:0000968	Ectodermal dysplasia
8	HP:0000232	Everted lower lip vermilion
9	HP:0002007	Frontal bossing
10	HP:0000316	Hypertelorism
11	HP:0000023	Inguinal hernia
12	HP:0001388	Joint laxity
13	HP:0000369	Low-set ears
14	HP:0000691	Microdontia
15	HP:0000774	Narrow chest
16	HP:0000767	Pectus excavatum
17	HP:0008905	Rhizomelia
18	HP:0000470	Short neck
19	HP:0008070	Sparse hair
20	HP:0001159	Syndactyly
21	HP:0000506	Telecanthus
22	HP:0000687	Widely spaced teeth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_206996.4(SPAG17):c.1069G>C (p.Asp357His)	200162	SPAG17	Likely pathogenic	183758503	RCV000504571;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	1	118635883	118635883	1:g.118635883C>G	ClinGen:CA1034400	C3150874 613610 Cranioectodermal dysplasia 2;
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.3426G>T (p.Trp1142Cys)	57539	WDR35	Pathogenic	1553313859	RCV000578479;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113406	20113406	2:g.20113406C>A	ClinGen:CA346230642,OMIM:613602.0012	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.2858del (p.Pro953fs)	57539	WDR35	Pathogenic	397515334	RCV000000039;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131136	20131136	2:g.20131136_20131136del	ClinGen:CA339781,OMIM:613602.0003	C3150874 613610 Cranioectodermal dysplasia 2;
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.1844A>G (p.Glu615Gly)	57539	WDR35	Pathogenic	267607174	RCV000000038;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20145548	20145548	2:g.20145548T>C	ClinGen:CA339780,UniProtKB:Q9P2L0#VAR_064581,OMIM:613602.0002	C3150874 613610 Cranioectodermal dysplasia 2;
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.1559T>C (p.Leu520Pro)	57539	WDR35	Pathogenic	397515533	RCV000055831;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20146297	20146297	NC_000002.11:g.20146297A>G	ClinGen:CA344943,OMIM:613602.0008	C3150874 613610 Cranioectodermal dysplasia 2;
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.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;
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.25-2A>G	57539	WDR35	Pathogenic	397515534	RCV000000037;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20189045	20189045	2:g.20189045T>C	ClinGen:CA113807,OMIM:613602.0001	C3150874 613610 Cranioectodermal dysplasia 2;
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)	57539	WDR35	Likely pathogenic	267607175	RCV000000040\|RCV000508347;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MedGen:CN517202	2	20133230	20133230	NC_000002.11:g.20133230C>T	OMIM:613602.0004,ClinGen:CA339782,UniProtKB:Q9P2L0#VAR_064582	C3150874 613610 Cranioectodermal dysplasia 2;
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.1382G>A (p.Arg461Gln)	57539	WDR35	Likely pathogenic	200140363	RCV000504572;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20153613	20153613	NC_000002.11:g.20153613C>T	ClinGen:CA1543248	C3150874 613610 Cranioectodermal dysplasia 2;
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.3363-29_3363-18del	57539	WDR35	Uncertain significance	1270558293	RCV001293395;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20113487	20113498	20113486	-
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.3170A>G (p.Tyr1057Cys)	57539	WDR35	Conflicting interpretations of pathogenicity	541910371	RCV000507380\|RCV000578488\|RCV001266500;	N	MedGen:CN169374\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515\|MeSH:D030342,MedGen:C0950123	2	20113990	20113990	2:g.20113990T>C	ClinGen:CA1542728,OMIM:613602.0010	C3150874 613610 Cranioectodermal dysplasia 2;
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.3058C>T (p.His1020Tyr)	57539	WDR35	Uncertain significance	1553316264	RCV000578480;	N	MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20130220	20130220	2:g.20130220G>A	ClinGen:CA345941580,OMIM:613602.0009	C3150874 613610 Cranioectodermal dysplasia 2;
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.2874G>T (p.Lys958Asn)	57539	WDR35	Uncertain significance	1558328135	RCV000785071\|RCV002234175;	N	MedGen:CN239419\|MONDO:MONDO:0013323,MedGen:C3150874,OMIM:613610, Orphanet:1515	2	20131120	20131120	2:g.20131120C>A	-
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.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.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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