ClinVar for MedGen (Select 462224) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391015	NM_020779.4(WDR35):c.2870A>T (p.Lys957Met)	WDR35 (K957M +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2	GUncertain significance
Select item 3362444	NM_020779.4(WDR35):c.739C>T (p.Pro247Ser)	WDR35 (P247S)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2	GUncertain significance
Select item 3065383	NM_020779.4(WDR35):c.3281A>G (p.Tyr1094Cys)	WDR35 (Y1094C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2	GUncertain significance
Select item 2953661	NM_020779.4(WDR35):c.1401-11C>G	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2952744	NM_020779.4(WDR35):c.171_178del (p.Ser59fs)	WDR35 (S59fs)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GPathogenic
Select item 2952149	NM_020779.4(WDR35):c.2622A>T (p.Pro874=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 2951856	NM_020779.4(WDR35):c.1609C>T (p.Gln537Ter)	WDR35 (Q537* +1 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GPathogenic
Select item 2951751	NM_020779.4(WDR35):c.1228C>T (p.Pro410Ser)	WDR35 (P410S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2951750	NM_020779.4(WDR35):c.1954C>G (p.Leu652Val)	WDR35 (L663V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2950806	NM_020779.4(WDR35):c.2520A>G (p.Ser840=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2949400	NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2949181	NM_001006657.2(WDR35):c.1195-2A>T	WDR35	Single nucleotide variant (intron variant +1 more)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely pathogenic
Select item 2949133	NM_020779.4(WDR35):c.143-7G>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2948787	NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)	WDR35 (W452* +1 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GPathogenic
Select item 2946506	NM_020779.4(WDR35):c.1194+18T>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2945393	NM_020779.4(WDR35):c.1008+13A>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2944219	NM_020779.4(WDR35):c.2965-20T>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2942726	NM_020779.4(WDR35):c.2823+6_2823+298delinsAAA	WDR35	Indel (intron variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2941707	NM_020779.4(WDR35):c.2658+14C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2939967	NM_020779.4(WDR35):c.570+20A>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2939861	NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)	WDR35 (Y518* +1 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 2 +1 more	GPathogenic
Select item 2938831	NM_020779.4(WDR35):c.2202T>C (p.Ala734=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2938100	NM_020779.4(WDR35):c.2547+13A>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2937278	NM_020779.4(WDR35):c.2659-13A>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2936662	NM_020779.4(WDR35):c.571-16A>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2936253	NM_020779.4(WDR35):c.2063+7A>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2935698	NM_020779.4(WDR35):c.1732T>C (p.Leu578=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2934492	NM_020779.4(WDR35):c.1400+17A>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2934209	NM_020779.4(WDR35):c.2178A>G (p.Leu726=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2933666	NM_020779.4(WDR35):c.3427A>T (p.Met1143Leu)	WDR35 (M1143L +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2932293	NM_020779.4(WDR35):c.2488G>A (p.Asp830Asn)	WDR35 (D841N +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 2932047	NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)	WDR35 (Y1094F +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2930634	NM_020779.4(WDR35):c.1401-11C>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2930222	NM_020779.4(WDR35):c.2247G>T (p.Thr749=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2930107	NM_020779.4(WDR35):c.105T>C (p.Asp35=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2929960	NM_020779.4(WDR35):c.2965-5C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2929325	NM_020779.4(WDR35):c.2547+9T>C	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2929065	NM_020779.4(WDR35):c.2838G>A (p.Glu946=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2928267	NM_020779.4(WDR35):c.437-15_437-13del	WDR35	Microsatellite (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2927840	NM_020779.4(WDR35):c.90A>G (p.Ala30=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2925510	NM_020779.4(WDR35):c.2568C>T (p.Val856=)	LOC129933186, WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2925343	NM_020779.4(WDR35):c.2980G>T (p.Ala994Ser)	WDR35 (A1005S +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2925118	NM_020779.4(WDR35):c.883-14A>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2925058	NM_020779.4(WDR35):c.2253C>T (p.Leu751=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2923863	NM_020779.4(WDR35):c.498G>A (p.Ala166=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2923325	NM_020779.4(WDR35):c.3363-10C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2922727	NM_020779.4(WDR35):c.1354T>C (p.Leu452=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2921988	NM_020779.4(WDR35):c.2646A>G (p.Val882=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2423459	NC_000002.11:g.(?_20188906)_(20189063_?)del	WDR35	Deletion	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GPathogenic
Select item 2415051	NM_020779.4(WDR35):c.1524+11C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2202287	NM_020779.4(WDR35):c.141A>G (p.Thr47=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2199412	NM_020779.4(WDR35):c.24+17dup	WDR35	Duplication (intron variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 2198023	NM_020779.4(WDR35):c.1058G>A (p.Arg353His)	WDR35 (R353H)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2195886	NM_020779.4(WDR35):c.1302G>A (p.Ser434=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2191713	NM_020779.4(WDR35):c.3455T>G (p.Leu1152Arg)	WDR35 (L1163R +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2190602	NM_020779.4(WDR35):c.489A>G (p.Thr163=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2190079	NM_020779.4(WDR35):c.2191A>G (p.Met731Val)	WDR35 (M731V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2180640	NM_020779.4(WDR35):c.367T>C (p.Trp123Arg)	WDR35 (W123R)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2179976	NM_020779.4(WDR35):c.3267A>G (p.Glu1089=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2179004	NM_001006657.2(WDR35):c.1227G>A (p.Thr409=)	WDR35	Single nucleotide variant (synonymous variant +1 more)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2177240	NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2177128	NM_020779.4(WDR35):c.2964+14T>A	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2172459	NM_020779.4(WDR35):c.2523T>C (p.Leu841=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2171787	NM_020779.4(WDR35):c.1994C>T (p.Ala665Val)	WDR35 (A665V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2169704	NM_020779.4(WDR35):c.658G>T (p.Val220Leu)	WDR35 (V220L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2169554	NM_020779.4(WDR35):c.1270G>A (p.Ala424Thr)	WDR35 (A435T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2166165	NM_020779.4(WDR35):c.2193G>C (p.Met731Ile)	WDR35 (M742I +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2162376	NM_020779.4(WDR35):c.1635-19C>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2161775	NM_020779.4(WDR35):c.882+10T>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2160911	NM_020779.4(WDR35):c.3448G>A (p.Gly1150Ser)	WDR35 (G1161S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +2 more	GUncertain significance
Select item 2160097	NM_020779.4(WDR35):c.1101A>G (p.Glu367=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2156807	NM_020779.4(WDR35):c.1674C>T (p.Phe558=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2156709	NM_020779.4(WDR35):c.570+7_570+10del	WDR35	Microsatellite (splice donor variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2149564	NM_020779.4(WDR35):c.3003T>A (p.Val1001=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2148109	NM_020779.4(WDR35):c.2430A>G (p.Gln810=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2140692	NM_020779.4(WDR35):c.2264G>C (p.Arg755Thr)	WDR35 (R755T +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2139899	NM_020779.4(WDR35):c.570+2T>G	WDR35	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely pathogenic
Select item 2132705	NM_020779.4(WDR35):c.376G>A (p.Asp126Asn)	WDR35 (D126N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2127447	NM_020779.4(WDR35):c.732C>T (p.Asp244=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2121701	NM_020779.4(WDR35):c.1654A>C (p.Ile552Leu)	WDR35 (I552L +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2116929	NM_020779.4(WDR35):c.1834T>C (p.Leu612=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2113061	NM_020779.4(WDR35):c.2559A>T (p.Gln853His)	LOC129933186, WDR35 (Q853H +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2112612	NM_020779.4(WDR35):c.629T>C (p.Ile210Thr)	WDR35 (I210T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2108611	NM_020779.4(WDR35):c.3362+6C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2106258	NM_020779.4(WDR35):c.2190A>G (p.Ser730=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2097847	NM_020779.4(WDR35):c.3117G>T (p.Lys1039Asn)	WDR35 (K1050N +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2097269	NM_020779.4(WDR35):c.25-17T>C	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2096776	NM_020779.4(WDR35):c.2844G>A (p.Lys948=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2091206	NM_020779.4(WDR35):c.717G>A (p.Met239Ile)	WDR35 (M239I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2090608	NM_020779.4(WDR35):c.1527T>C (p.Gly509=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2087069	NM_020779.4(WDR35):c.2538G>A (p.Lys846=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2083531	NM_020779.4(WDR35):c.442C>T (p.Arg148Cys)	WDR35 (R148C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 2083364	NM_020779.4(WDR35):c.2135A>G (p.Lys712Arg)	WDR35 (K712R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2074139	NM_020779.4(WDR35):c.2551A>G (p.Ile851Val)	LOC129933186, WDR35 (I862V +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2073837	NM_020779.4(WDR35):c.873G>A (p.Pro291=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2071991	NM_020779.4(WDR35):c.1503A>G (p.Ala501=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2068487	NM_020779.4(WDR35):c.3439T>C (p.Cys1147Arg)	WDR35 (C1158R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2061334	NM_020779.4(WDR35):c.872C>T (p.Pro291Leu)	WDR35 (P291L)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2058563	NM_020779.4(WDR35):c.1525-2A>T	WDR35	Single nucleotide variant (splice acceptor variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely pathogenic
Select item 2053171	NM_020779.4(WDR35):c.1194+11C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign

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