WDR81[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 148875	GRCh38/hg38 17p13.3(chr17:162016-1904358)x1	ABR, ABR-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144305	GRCh38/hg38 17p13.3(chr17:198748-1920952)x1	ABR, ABR-AS1 +100 more	Copy number loss	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 932228	GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3	SERPINF1, SERPINF2 +53 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 146016	GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3	ABR, BHLHA9 +51 more	Copy number gain	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 2578776	NM_152348.4(WDR81):c.-131C>T	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2345695	NM_001163809.2(WDR81):c.17G>C (p.Gly6Ala)	WDR81 (G6A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602557	NM_001163809.2(WDR81):c.31G>A (p.Ala11Thr)	WDR81 (A11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570964	NM_001163809.2(WDR81):c.51G>A (p.Gly17=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190292	NM_001163809.2(WDR81):c.68C>A (p.Pro23Gln)	WDR81 (P23Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529992	NM_001163809.2(WDR81):c.78C>G (p.Asp26Glu)	WDR81 (D26E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332962	NM_001163809.2(WDR81):c.121G>C (p.Asp41His)	WDR81 (D41H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330994	NM_001163809.2(WDR81):c.125C>T (p.Pro42Leu)	WDR81 (P42L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 745903	NM_001163809.2(WDR81):c.141G>C (p.Pro47=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2525546	NM_001163809.2(WDR81):c.151G>A (p.Gly51Ser)	WDR81 (G51S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216734	NM_001163809.2(WDR81):c.206G>T (p.Arg69Leu)	WDR81 (R69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190262	NM_001163809.2(WDR81):c.209G>A (p.Arg70Gln)	WDR81 (R70Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1687637	NM_001163809.2(WDR81):c.218del (p.Leu73fs)	WDR81 (L73fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2560831	NM_001163809.2(WDR81):c.245T>C (p.Leu82Pro)	WDR81 (L82P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 783746	NM_001163809.2(WDR81):c.270C>T (p.Leu90=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2614654	NM_001163809.2(WDR81):c.295C>T (p.Pro99Ser)	WDR81 (P99S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718887	NM_001163809.2(WDR81):c.328C>T (p.Leu110=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190273	NM_001163809.2(WDR81):c.332G>C (p.Arg111Pro)	WDR81 (R111P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3190274	NM_001163809.2(WDR81):c.337C>T (p.Arg113Trp)	WDR81 (R113W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326671	NM_001163809.2(WDR81):c.341G>C (p.Arg114Thr)	WDR81 (R114T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332963	NM_001163809.2(WDR81):c.381C>A (p.Asp127Glu)	WDR81 (D127E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3190280	NM_001163809.2(WDR81):c.382G>C (p.Gly128Arg)	WDR81 (G128R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493522	NM_001163809.2(WDR81):c.459T>A (p.His153Gln)	WDR81 (H153Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525898	NM_001163809.2(WDR81):c.476G>A (p.Gly159Asp)	WDR81 (G159D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 982855	NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu)	WDR81 (P161L)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 3234578	NM_001163809.2(WDR81):c.483G>A (p.Pro161=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1031892	NM_001163809.2(WDR81):c.487A>G (p.Ser163Gly)	WDR81 (S163G)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies	GUncertain significance
Select item 736141	NM_001163809.2(WDR81):c.504C>G (p.Pro168=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808184	NM_001163809.2(WDR81):c.568C>T (p.Leu190=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190291	NM_001163809.2(WDR81):c.584C>A (p.Thr195Asn)	WDR81 (T195N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438598	NM_001163809.2(WDR81):c.610G>A (p.Glu204Lys)	WDR81 (E204K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2467542	NM_001163809.2(WDR81):c.626C>T (p.Pro209Leu)	WDR81 (P209L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 732182	NM_001163809.2(WDR81):c.626C>A (p.Pro209His)	WDR81 (P209H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3239176	NM_001163809.2(WDR81):c.638C>A (p.Pro213His)	WDR81 (P213H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334839	NM_001163809.2(WDR81):c.656T>A (p.Leu219Ter)	WDR81 (L219*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2647191	NM_001163809.2(WDR81):c.681G>A (p.Ser227=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 974704	NM_001163809.2(WDR81):c.682C>T (p.Pro228Ser)	WDR81 (P228S)	Single nucleotide variant (missense variant +1 more)	Fraser syndrome 3	GUncertain significance
Select item 3332954	NM_001163809.2(WDR81):c.683C>T (p.Pro228Leu)	WDR81 (P228L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438590	NM_001163809.2(WDR81):c.699_700delinsTT (p.Val234Leu)	WDR81 (V234L)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2647192	NM_001163809.2(WDR81):c.792C>A (p.Leu264=)	WDR81	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1326695	NM_001163809.2(WDR81):c.796C>T (p.Arg266Cys)	WDR81 (R266C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2228936	NM_001163809.2(WDR81):c.817G>A (p.Ala273Thr)	WDR81 (A273T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1031895	NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys)	WDR81 (R276C)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 504293	NM_001163809.2(WDR81):c.826_827delinsT (p.Arg276fs)	WDR81 (R276fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3190293	NM_001163809.2(WDR81):c.827G>A (p.Arg276His)	WDR81 (R276H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1312005	NM_001163809.2(WDR81):c.827G>T (p.Arg276Leu)	WDR81 (R276L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441690	NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)	WDR81	Deletion (inframe_deletion +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +1 more	GUncertain significance
Select item 2438601	NM_001163809.2(WDR81):c.839C>T (p.Ala280Val)	WDR81 (A280V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 183290	NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)	WDR81 (G282E)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely pathogenic
Select item 872061	NM_001163809.2(WDR81):c.934G>A (p.Asp312Asn)	WDR81 (D312N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3190294	NM_001163809.2(WDR81):c.950C>A (p.Ala317Asp)	WDR81 (A317D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746172	NM_001163809.2(WDR81):c.1044C>T (p.Leu348=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190259	NM_001163809.2(WDR81):c.1045G>A (p.Val349Met)	WDR81 (V349M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 596303	NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)	WDR81 (V349L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3190260	NM_001163809.2(WDR81):c.1052A>G (p.Asp351Gly)	WDR81 (D351G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1029177	NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly)	WDR81 (S358G)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 1190382	NM_001163809.2(WDR81):c.1115G>A (p.Arg372Gln)	WDR81 (R372Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 751579	NM_001163809.2(WDR81):c.1140C>T (p.His380=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029178	NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala)	WDR81 (V386A)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GUncertain significance
Select item 2455371	NM_001163809.2(WDR81):c.1172C>T (p.Thr391Met)	WDR81 (T391M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 725692	NM_001163809.2(WDR81):c.1179T>C (p.His393=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 872062	NM_001163809.2(WDR81):c.1189C>T (p.Arg397Ter)	WDR81 (R397*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3190261	NM_001163809.2(WDR81):c.1264C>A (p.Gln422Lys)	WDR81 (Q422K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506741	NM_001163809.2(WDR81):c.1276G>A (p.Ala426Thr)	WDR81 (A426T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2219095	NM_001163809.2(WDR81):c.1285G>T (p.Ala429Ser)	WDR81 (A429S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 432483	NM_001163809.2(WDR81):c.1286C>T (p.Ala429Val)	WDR81 (A429V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3040358	NM_001163809.2(WDR81):c.1290C>T (p.Gly430=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 2351880	NM_001163809.2(WDR81):c.1291G>A (p.Gly431Ser)	WDR81 (G431S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1304926	NM_001163809.2(WDR81):c.1307A>C (p.His436Pro)	WDR81 (H436P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1685214	NM_001163809.2(WDR81):c.1316A>G (p.His439Arg)	WDR81 (H439R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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