ClinVar for Gene (Select 57539) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 704

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384657	NM_020779.4(WDR35):c.2381C>T (p.Ala794Val)	WDR35 (A794V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370210	NM_020779.4(WDR35):c.31A>G (p.Ile11Val)	WDR35 (I11V)	Single nucleotide variant (missense variant)	not provided	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 3360443	NM_020779.4(WDR35):c.1721T>C (p.Val574Ala)	WDR35 (V574A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359718	NM_020779.4(WDR35):c.43G>C (p.Val15Leu)	WDR35 (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358272	NM_020779.4(WDR35):c.1371del (p.Thr458fs)	WDR35 (T458fs +1 more)	Deletion (frameshift variant)	WDR35-related disorder	GLikely pathogenic
Select item 3357298	NM_020779.4(WDR35):c.2828C>T (p.Ala943Val)	WDR35 (A943V +1 more)	Single nucleotide variant (missense variant)	WDR35-related disorder	GUncertain significance
Select item 3337735	NM_020779.4(WDR35):c.2964+87_3121+3883del	WDR35	Deletion (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 3332812	NM_020779.4(WDR35):c.488C>T (p.Thr163Ile)	WDR35 (T163I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332811	NM_020779.4(WDR35):c.2180T>C (p.Leu727Pro)	WDR35 (L727P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332810	NM_020779.4(WDR35):c.989A>G (p.Asn330Ser)	WDR35 (N330S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332809	NM_020779.4(WDR35):c.2537A>G (p.Lys846Arg)	WDR35 (K857R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332808	NM_020779.4(WDR35):c.3196G>T (p.Ala1066Ser)	WDR35 (A1066S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332806	NM_020779.4(WDR35):c.2562G>A (p.Met854Ile)	LOC129933186, WDR35 (M865I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332805	NM_020779.4(WDR35):c.2326C>G (p.Leu776Val)	WDR35 (L787V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332804	NM_020779.4(WDR35):c.479C>G (p.Ser160Cys)	WDR35 (S160C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3332803	NM_020779.4(WDR35):c.2607G>C (p.Leu869Phe)	WDR35 (L880F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332802	NM_020779.4(WDR35):c.3130C>A (p.Leu1044Met)	WDR35 (L1055M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332801	NM_020779.4(WDR35):c.1375C>T (p.Arg459Trp)	WDR35 (R459W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252312	NM_020779.4(WDR35):c.3071T>G (p.Leu1024Arg)	WDR35 (L1024R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247507	NC_000002.11:g.(?_20113319)_(20212392_?)dup	WDR35, MATN3	Duplication	not provided	GUncertain significance
Select item 3189992	NM_020779.4(WDR35):c.964G>A (p.Val322Ile)	WDR35 (V322I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189991	NM_020779.4(WDR35):c.953T>G (p.Ile318Ser)	WDR35 (I318S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189990	NM_020779.4(WDR35):c.739C>A (p.Pro247Thr)	WDR35 (P247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189989	NM_020779.4(WDR35):c.71A>G (p.Lys24Arg)	WDR35 (K24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189988	NM_020779.4(WDR35):c.419T>C (p.Ile140Thr)	WDR35 (I140T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3189986	NM_020779.4(WDR35):c.2735A>G (p.His912Arg)	WDR35 (H923R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189984	NM_020779.4(WDR35):c.2246C>T (p.Thr749Met)	WDR35 (T749M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189983	NM_020779.4(WDR35):c.2175A>C (p.Lys725Asn)	WDR35 (K736N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3189982	NM_020779.4(WDR35):c.1481A>G (p.Asp494Gly)	WDR35 (D494G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189981	NM_020779.4(WDR35):c.1246A>G (p.Ile416Val)	WDR35 (I416V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189980	NM_020779.4(WDR35):c.1114T>C (p.Tyr372His)	WDR35 (Y372H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189979	NM_020779.4(WDR35):c.1108G>A (p.Val370Ile)	WDR35 (V370I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189978	NM_020779.4(WDR35):c.1024A>G (p.Asn342Asp)	WDR35 (N342D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
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 disorder	GLikely benign
Select item 3046403	NM_020779.4(WDR35):c.737-4C>T	WDR35	Single nucleotide variant (intron variant)	WDR35-related disorder	GLikely benign
Select item 3038136	NM_020779.4(WDR35):c.198T>G (p.Thr66=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
Select item 3032181	NM_020779.4(WDR35):c.741C>T (p.Pro247=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
Select item 3031086	NM_020779.4(WDR35):c.399A>G (p.Val133=)	WDR35	Single nucleotide variant (synonymous variant)	WDR35-related disorder	GLikely benign
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 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 2681645	NM_020779.4(WDR35):c.1082G>A (p.Trp361Ter)	WDR35 (W361*)	Single nucleotide variant (nonsense)	EBV-positive nodal T- and NK-cell lymphoma	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 disorder	GUncertain significance
Select item 2633789	NM_020779.4(WDR35):c.1711C>T (p.Gln571Ter)	WDR35 (Q571* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder	GLikely pathogenic
Select item 2631751	NM_020779.4(WDR35):c.524del (p.Met175fs)	WDR35 (M175fs)	Deletion (frameshift variant)	WDR35-related disorder	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

<< First< Prev

Page of 8