ClinVar for Gene (Select 256764) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076032	NM_182758.4(WDR72):c.2019dup (p.Trp674fs)	WDR72 (W674fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GLikely pathogenic
Select item 3065340	NM_182758.4(WDR72):c.1348+1G>T	WDR72	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 3064917	NM_182758.4(WDR72):c.858-1G>C	WDR72	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 3060377	NM_182758.4(WDR72):c.3149-17738A>G	WDR72	Single nucleotide variant (synonymous variant +2 more)	WDR72-related condition	GBenign
Select item 3058257	NM_182758.4(WDR72):c.1569+8G>A	WDR72	Single nucleotide variant (intron variant)	WDR72-related condition	GLikely benign
Select item 3045728	NM_182758.4(WDR72):c.2299A>G (p.Lys767Glu)	WDR72 (K767E)	Single nucleotide variant (missense variant +1 more)	WDR72-related condition	GBenign
Select item 3029744	NM_182758.4(WDR72):c.3149-17739_3149-17738inv	WDR72 (P7L)	Inversion (missense variant +2 more)	WDR72-related condition	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2623558	NM_182758.4(WDR72):c.2906T>C (p.Leu969Pro)	WDR72 (L969P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609234	NM_182758.4(WDR72):c.134A>G (p.Asn45Ser)	WDR72 (N45S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602071	NM_182758.4(WDR72):c.1118C>T (p.Ala373Val)	WDR72 (A373V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601970	NM_182758.4(WDR72):c.2701A>G (p.Ile901Val)	WDR72 (I901V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600709	NM_182758.4(WDR72):c.1361A>C (p.His454Pro)	WDR72 (H454P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597472	NM_182758.4(WDR72):c.2069T>C (p.Val690Ala)	WDR72 (V690A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2568884	NM_182758.4(WDR72):c.1892A>G (p.Gln631Arg)	WDR72 (Q631R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543871	NM_182758.4(WDR72):c.1745A>G (p.Tyr582Cys)	WDR72 (Y582C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542435	NM_182758.4(WDR72):c.1603G>A (p.Gly535Ser)	WDR72 (G535S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2540768	NM_182758.4(WDR72):c.1412A>G (p.His471Arg)	WDR72 (H471R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535094	NM_182758.4(WDR72):c.3298A>C (p.Lys1100Gln)	WDR72 (K86Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533510	NM_182758.4(WDR72):c.1741G>A (p.Val581Ile)	WDR72 (V581I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514942	NM_182758.4(WDR72):c.289G>A (p.Gly97Arg)	WDR72 (G97R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504595	NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)	WDR72 (L955*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2488614	NM_182758.4(WDR72):c.2339C>T (p.Pro780Leu)	WDR72 (P780L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484608	NM_182758.4(WDR72):c.223T>C (p.Ser75Pro)	WDR72 (S75P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478111	NM_182758.4(WDR72):c.944A>G (p.Gln315Arg)	WDR72 (Q315R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470176	NM_182758.4(WDR72):c.1676C>G (p.Pro559Arg)	WDR72 (P559R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470006	NM_182758.4(WDR72):c.1802G>A (p.Arg601Gln)	WDR72 (R601Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469022	NM_182758.4(WDR72):c.2336A>C (p.Gln779Pro)	WDR72 (Q779P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445451	NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)	WDR72 (I428S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 2445449	NM_182758.4(WDR72):c.2388del (p.Lys796fs)	WDR72 (K796fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445448	NM_182758.4(WDR72):c.2146del (p.Ala716fs)	WDR72 (A716fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445445	NM_182758.4(WDR72):c.954+1_954+10del	WDR72	Deletion (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445444	NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)	WDR72 (Q40*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445427	NM_182758.4:c.-13+989_7del	WDR72	Deletion	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2423931	NC_000015.9:g.(?_50731271)_(54025330_?)dup	CYP19A1, TNFAIP8L3 +21 more	Duplication	not provided	GUncertain significance
Select item 2423927	NC_000015.9:g.(?_50999997)_(54025330_?)del	AP4E1, ARPP19 +18 more	Deletion	Spastic paraplegia	GPathogenic
Select item 2409516	NM_182758.4(WDR72):c.3029A>G (p.Asn1010Ser)	WDR72 (N1010S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408830	NM_182758.4(WDR72):c.2576G>C (p.Gly859Ala)	WDR72 (G859A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408671	NM_182758.4(WDR72):c.1205C>T (p.Ala402Val)	WDR72 (A402V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398746	NM_182758.4(WDR72):c.348C>G (p.His116Gln)	WDR72 (H116Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396612	NM_182758.4(WDR72):c.1180T>A (p.Tyr394Asn)	WDR72 (Y394N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395669	NM_182758.4(WDR72):c.1669C>A (p.Leu557Ile)	WDR72 (L557I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393673	NM_182758.4(WDR72):c.1048A>G (p.Thr350Ala)	WDR72 (T350A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383083	NM_182758.4(WDR72):c.1648C>T (p.Leu550Phe)	WDR72 (L550F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379713	NM_182758.4(WDR72):c.3076C>A (p.Gln1026Lys)	WDR72 (Q1026K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370785	NM_182758.4(WDR72):c.434C>G (p.Ala145Gly)	WDR72 (A145G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365502	NM_182758.4(WDR72):c.3211G>C (p.Asp1071His)	WDR72 (D1071H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359110	NM_182758.4(WDR72):c.2943G>C (p.Gln981His)	WDR72 (Q981H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357068	NM_182758.4(WDR72):c.2938G>T (p.Asp980Tyr)	WDR72 (D980Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346628	NM_182758.4(WDR72):c.1532C>T (p.Pro511Leu)	WDR72 (P511L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335184	NM_182758.4(WDR72):c.1658C>T (p.Ala553Val)	WDR72 (A553V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331979	NM_182758.4(WDR72):c.2383G>A (p.Ala795Thr)	WDR72 (A795T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312124	NM_182758.4(WDR72):c.1417C>G (p.Leu473Val)	WDR72 (L473V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282253	NM_182758.4(WDR72):c.982T>G (p.Tyr328Asp)	WDR72 (Y328D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281641	NM_182758.4(WDR72):c.2607C>A (p.Asp869Glu)	WDR72 (D869E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275340	NM_182758.4(WDR72):c.983A>G (p.Tyr328Cys)	WDR72 (Y328C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256619	NM_182758.4(WDR72):c.2705T>A (p.Val902Asp)	WDR72 (V902D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245480	NM_182758.4(WDR72):c.415A>G (p.Ile139Val)	WDR72 (I139V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236640	NM_182758.4(WDR72):c.2239A>T (p.Thr747Ser)	WDR72 (T747S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2221779	NM_182758.4(WDR72):c.1661G>A (p.Arg554Gln)	WDR72 (R554Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209076	NM_182758.4(WDR72):c.1711T>G (p.Phe571Val)	WDR72 (F571V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207561	NM_182758.4(WDR72):c.799C>T (p.His267Tyr)	WDR72 (H267Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1895442	NM_182758.4(WDR72):c.1287_1289del (p.Ile430del)	WDR72 (I430del)	Deletion (inframe_deletion +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1895441	NM_182758.4(WDR72):c.2332dup (p.Met778fs)	WDR72 (M778fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1879842	NM_182758.4(WDR72):c.1766-2423_1962+1074del	WDR72	Deletion (splice acceptor variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1879841	NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)	WDR72 (S894fs)	Indel (non-coding transcript variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1344707	NM_182758.4(WDR72):c.477_485dup (p.Ile159_Cys161dup)	WDR72	Duplication (inframe_insertion +1 more)	Distal renal tubular acidosis	GLikely pathogenic
Select item 1343811	NM_182758.4(WDR72):c.764_768del (p.Gly255fs)	WDR72 (G255fs)	Deletion (frameshift variant +1 more)	Hypophosphatemic rickets +1 more	GPathogenic/Likely pathogenic
Select item 1340827	GRCh37/hg19 15q21.3(chr15:53839996-53910407)x1	WDR72	Copy number loss	not provided	GUncertain significance
Select item 1287880	NM_182758.4(WDR72):c.1569+205C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287048	NM_182758.4(WDR72):c.1962+230A>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279101	NM_182758.4(WDR72):c.2872+134A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278732	NM_182758.4(WDR72):c.1103-238del	WDR72	Deletion (intron variant)	not provided	GBenign
Select item 1278090	NM_182758.4(WDR72):c.2872+42del	WDR72	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1276369	NM_182758.4(WDR72):c.340-305GTT[3]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1271879	NM_182758.4(WDR72):c.2872+217A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269936	NM_182758.4(WDR72):c.592-156A>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268270	NM_182758.4(WDR72):c.954+115A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266624	NM_182758.4(WDR72):c.1348+96G>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266136	NM_182758.4(WDR72):c.954+145A>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261812	NM_182758.4(WDR72):c.514+272A>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259822	NM_182758.4(WDR72):c.1348+188T>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249601	NM_182758.4(WDR72):c.955-43C>A	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GBenign
Select item 1249156	NM_182758.4(WDR72):c.711+172T>G	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243598	NM_182758.4(WDR72):c.153+181T>C	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235204	NM_182758.4(WDR72):c.2781-201ATAA[4]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1233078	NM_182758.4(WDR72):c.711+156dup	WDR72	Duplication (intron variant)	not provided	GBenign
Select item 1231693	NM_182758.4(WDR72):c.261-272G>A	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229563	NM_182758.4(WDR72):c.2872+84G>A	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227925	NM_182758.4(WDR72):c.711+249C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225957	NM_182758.4(WDR72):c.3149-233C>T	WDR72	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224740	NM_182758.4(WDR72):c.591+231CA[9]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1224220	NM_182758.4(WDR72):c.591+231CA[14]	WDR72	Microsatellite (intron variant)	not provided	GBenign
Select item 1179787	NM_182758.4(WDR72):c.261-85_261-84insCACTTAAGTGCAGCA	WDR72	Insertion (intron variant)	not provided	GBenign
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 988929	GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1	AP4E1, ARPP19 +35 more	Copy number loss	not provided	GPathogenic
Select item 980046	GRCh37/hg19 15q21.3(chr15:53915501-53994126)x1	WDR72	Copy number loss	not provided	GLikely benign

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