WDR35[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897634	NM_001006657.1(WDR35):c.*3299C>T	WDR35	Single nucleotide variant	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333317	NM_020779.4(WDR35):c.*3269G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333318	NM_020779.4(WDR35):c.*3268C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333319	NM_020779.4(WDR35):c.*3235C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333320	NM_020779.4(WDR35):c.*3225G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333321	NM_020779.4(WDR35):c.*2990G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333322	NM_020779.4(WDR35):c.*2989C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333323	NM_020779.4(WDR35):c.*2962C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333324	NM_020779.4(WDR35):c.*2957G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333325	NM_020779.4(WDR35):c.*2887T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333326	NM_020779.4(WDR35):c.*2836C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333327	NM_020779.4(WDR35):c.*2797G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333328	NM_020779.4(WDR35):c.*2748G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333329	NM_020779.4(WDR35):c.*2726A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333330	NM_020779.4(WDR35):c.*2725G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896113	NM_020779.4(WDR35):c.*2629T>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333331	NM_020779.4(WDR35):c.*2623T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333332	NM_020779.4(WDR35):c.*2622A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 897709	NM_020779.4(WDR35):c.*2620G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333333	NM_020779.4(WDR35):c.*2619C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 898866	NM_020779.4(WDR35):c.*2618G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333334	NM_020779.4(WDR35):c.*2559A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333335	NM_020779.4(WDR35):c.*2463C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333336	NM_020779.4(WDR35):c.*2408G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333337	NM_020779.4(WDR35):c.*2341G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 895898	NM_020779.4(WDR35):c.*2315G>C	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 333338	NM_020779.4(WDR35):c.*2288C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 895899	NM_020779.4(WDR35):c.*2239G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 895900	NM_020779.4(WDR35):c.*2228C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896181	NM_020779.4(WDR35):c.*2160T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333339	NM_020779.4(WDR35):c.*2029GTCT[1]	WDR35	Microsatellite (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 896182	NM_020779.4(WDR35):c.*1960G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896183	NM_020779.4(WDR35):c.*1957C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333340	NM_020779.4(WDR35):c.*1934A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897784	NM_020779.4(WDR35):c.*1821A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897785	NM_020779.4(WDR35):c.*1754C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333341	NM_020779.4(WDR35):c.*1681A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333342	NM_020779.4(WDR35):c.*1668A>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 898928	NM_020779.4(WDR35):c.*1637C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333343	NM_020779.4(WDR35):c.*1582C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333344	NM_020779.4(WDR35):c.1575_1576dup	WDR35	Duplication (3 prime UTR variant)	Short rib-polydactyly syndrome +1 more	GLikely benign
Select item 333345	NM_020779.4(WDR35):c.*1489G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign
Select item 333346	NM_020779.4(WDR35):c.*1479C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333347	NM_020779.4(WDR35):c.*1461A>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 894799	NM_020779.4(WDR35):c.*1413C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 894800	NM_020779.4(WDR35):c.*1406A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 894801	NM_020779.4(WDR35):c.*1370G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333348	NM_020779.4(WDR35):c.*1270C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333349	NM_020779.4(WDR35):c.*1253C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896251	NM_020779.4(WDR35):c.*1219G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896252	NM_020779.4(WDR35):c.*1218C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897857	NM_020779.4(WDR35):c.*1207C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 897858	NM_020779.4(WDR35):c.*1146T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333350	NM_020779.4(WDR35):c.*1129C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333351	NM_020779.4(WDR35):c.*1127A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +2 more	GBenign
Select item 333352	NM_020779.4(WDR35):c.*1062G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333353	NM_020779.4(WDR35):c.*1050T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333354	NM_020779.4(WDR35):c.*1038C>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333355	NM_020779.4(WDR35):c.*1006G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 894872	NM_020779.4(WDR35):c.*1005C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333356	NM_020779.4(WDR35):c.*998A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 894873	NM_020779.4(WDR35):c.*997T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 894874	NM_020779.4(WDR35):c.*978A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333357	NM_020779.4(WDR35):c.*813A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896318	NM_020779.4(WDR35):c.*807T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333358	NM_020779.4(WDR35):c.*795C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333359	NM_020779.4(WDR35):c.*763T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 897938	NM_020779.4(WDR35):c.*747C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897939	NM_020779.4(WDR35):c.*712A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 897940	NM_020779.4(WDR35):c.*635C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333360	NM_020779.4(WDR35):c.*601A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333361	NM_020779.4(WDR35):c.*573A>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 333362	NM_020779.4(WDR35):c.*563T>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 333363	NM_020779.4(WDR35):c.*553G>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GBenign
Select item 333364	NM_020779.4(WDR35):c.*531T>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 333365	NM_020779.4(WDR35):c.*523G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 894943	NM_020779.4(WDR35):c.*487C>T	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GBenign
Select item 333366	NM_020779.4(WDR35):c.*380G>A	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 894944	NM_020779.4(WDR35):c.*305T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 896381	NM_020779.4(WDR35):c.*297A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 896382	NM_020779.4(WDR35):c.*271A>G	WDR35	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 333367	NM_020779.4(WDR35):c.*231C>A	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 333368	NM_020779.4(WDR35):c.*98T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GBenign
Select item 898010	NM_020779.4(WDR35):c.*16T>C	WDR35	Single nucleotide variant (3 prime UTR variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 1338942	NM_020779.4(WDR35):c.*6T>G	WDR35	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 437273	NM_020779.4(WDR35):c.3495C>A (p.Cys1165Ter)	WDR35 (C1176* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3189987	NM_020779.4(WDR35):c.3485G>T (p.Cys1162Phe)	WDR35 (C1173F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288788	NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg)	WDR35 (I1167R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 898011	NM_020779.4(WDR35):c.3464A>C (p.Glu1155Ala)	WDR35 (E1155A +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +2 more	GUncertain significance
Select item 898012	NM_020779.4(WDR35):c.3460C>G (p.Gln1154Glu)	WDR35 (Q1165E +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
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 2045868	NM_020779.4(WDR35):c.3454C>T (p.Leu1152Phe)	WDR35 (L1152F +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
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 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 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 488657	NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)	WDR35 (W1153C +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2	GPathogenic
Select item 558762	NM_020779.4(WDR35):c.3412G>A (p.Glu1138Lys)	WDR35 (E1149K +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +2 more	GUncertain significance
Select item 568490	NM_020779.4(WDR35):c.3398G>A (p.Gly1133Glu)	WDR35 (G1144E +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2177240	NM_020779.4(WDR35):c.3396A>G (p.Thr1132=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 1427509	NM_020779.4(WDR35):c.3385T>C (p.Cys1129Arg)	WDR35 (C1140R +1 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance

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