ClinVar for Gene (Select 57539) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 3053531	NM_020779.4(WDR35):c.2394C>T (p.Tyr798=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related condition	GLikely benign
Select item 3046403	NM_020779.4(WDR35):c.737-4C>T	WDR35	Single nucleotide variant (intron variant)	WDR35-related condition	GLikely benign
Select item 3038136	NM_020779.4(WDR35):c.198T>G (p.Thr66=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related condition	GLikely benign
Select item 3032181	NM_020779.4(WDR35):c.741C>T (p.Pro247=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related condition	GLikely benign
Select item 3031086	NM_020779.4(WDR35):c.399A>G (p.Val133=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related condition	GLikely benign
Select item 2953661	NM_020779.4(WDR35):c.1401-11C>G	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2949400	NM_020779.4(WDR35):c.3213G>A (p.Gly1071=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2949181	NM_001006657.2(WDR35):c.1195-2A>T	WDR35	Single nucleotide variant (intron variant +1 more)	Cranioectodermal dysplasia 2 +1 more	GLikely pathogenic
Select item 2949133	NM_020779.4(WDR35):c.143-7G>A	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2948787	NM_020779.4(WDR35):c.1322G>A (p.Trp441Ter)	WDR35 (W452* +1 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 2 +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance
Select item 2941707	NM_020779.4(WDR35):c.2658+14C>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2939967	NM_020779.4(WDR35):c.570+20A>G	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2939861	NM_020779.4(WDR35):c.1554C>G (p.Tyr518Ter)	WDR35 (Y518* +1 more)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 7 with or without polydactyly +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2936662	NM_020779.4(WDR35):c.571-16A>G	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2936253	NM_020779.4(WDR35):c.2063+7A>T	WDR35	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2935698	NM_020779.4(WDR35):c.1732T>C (p.Leu578=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +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)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2932047	NM_020779.4(WDR35):c.3281A>T (p.Tyr1094Phe)	WDR35 (Y1094F +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 2 +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2929065	NM_020779.4(WDR35):c.2838G>A (p.Glu946=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2928267	NM_020779.4(WDR35):c.437-15_437-13del	WDR35	Microsatellite (intron variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2927840	NM_020779.4(WDR35):c.90A>G (p.Ala30=)	WDR35	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GLikely benign
Select item 2925510	NM_020779.4(WDR35):c.2568C>T (p.Val856=)	LOC129933186, WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +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)	Cranioectodermal dysplasia 2 +1 more	GUncertain significance
Select item 2925118	NM_020779.4(WDR35):c.883-14A>T	WDR35	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2925058	NM_020779.4(WDR35):c.2253C>T (p.Leu751=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2923863	NM_020779.4(WDR35):c.498G>A (p.Ala166=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +1 more	GLikely benign
Select item 2923325	NM_020779.4(WDR35):c.3363-10C>T	WDR35	Single nucleotide variant (intron variant)	WDR35-related condition +2 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 2920871	NM_001006657.2(WDR35):c.1208T>C (p.Met403Thr)	WDR35 (M403T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920865	NM_020779.4(WDR35):c.1401-14_1401-10del	WDR35	Deletion (intron variant)	not provided	GLikely benign
Select item 2636456	NM_020779.4(WDR35):c.3046G>C (p.Ala1016Pro)	WDR35 (A1016P +1 more)	Single nucleotide variant (missense variant)	WDR35-related condition	GUncertain significance
Select item 2633789	NM_020779.4(WDR35):c.1711C>T (p.Gln571Ter)	WDR35 (Q571* +1 more)	Single nucleotide variant (nonsense)	WDR35-related condition	GLikely pathogenic
Select item 2631751	NM_020779.4(WDR35):c.524del (p.Met175fs)	WDR35 (M175fs)	Deletion (frameshift variant)	WDR35-related condition	GLikely pathogenic
Select item 2601790	NM_020779.4(WDR35):c.1135A>G (p.Ile379Val)	WDR35 (I379V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552066	NM_020779.4(WDR35):c.2105A>G (p.Tyr702Cys)	WDR35 (Y702C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548071	NM_020779.4(WDR35):c.299T>C (p.Leu100Ser)	WDR35 (L100S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542200	NM_020779.4(WDR35):c.1012G>T (p.Gly338Cys)	WDR35 (G338C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523214	NM_020779.4(WDR35):c.2912A>G (p.His971Arg)	WDR35 (H971R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498802	NM_020779.4(WDR35):c.329T>G (p.Ile110Ser)	WDR35 (I110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498801	NM_020779.4(WDR35):c.3077A>G (p.Gln1026Arg)	WDR35 (Q1026R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490276	NM_020779.4(WDR35):c.791T>G (p.Met264Arg)	WDR35 (M264R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438573	NM_020779.4(WDR35):c.1543A>G (p.Ile515Val)	WDR35 (I515V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438572	NM_020779.4(WDR35):c.3070C>G (p.Leu1024Val)	WDR35 (L1024V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438571	NM_020779.4(WDR35):c.437G>C (p.Gly146Ala)	WDR35 (G146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2423459	NC_000002.11:g.(?_20188906)_(20189063_?)del	WDR35	Deletion	Cranioectodermal dysplasia 2 +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 2379180	NM_020779.4(WDR35):c.2770G>A (p.Glu924Lys)	WDR35 (E924K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364241	NM_020779.4(WDR35):c.2863C>T (p.Arg955Cys)	WDR35 (R966C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336197	NM_020779.4(WDR35):c.1771G>A (p.Ala591Thr)	WDR35 (A602T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321919	NM_020779.4(WDR35):c.1547A>G (p.Gln516Arg)	WDR35 (Q527R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315957	NM_020779.4(WDR35):c.1507G>C (p.Asp503His)	WDR35 (D514H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299287	NM_020779.4(WDR35):c.2789A>G (p.Asn930Ser)	WDR35 (N941S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294608	NM_020779.4(WDR35):c.1745G>A (p.Arg582Gln)	WDR35 (R593Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282699	NM_020779.4(WDR35):c.589T>G (p.Cys197Gly)	WDR35 (C197G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233322	NM_020779.4(WDR35):c.2459G>A (p.Arg820His)	WDR35 (R820H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204740	NM_020779.4(WDR35):c.1691G>A (p.Arg564Gln)	WDR35 (R564Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202287	NM_020779.4(WDR35):c.141A>G (p.Thr47=)	WDR35	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 2 +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +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)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GUncertain significance

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