WDR73[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153577	GRCh38/hg38 15q25.2-25.3(chr15:84260061-85181753)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 154518	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x3	LOC130057805, LOC130057806 +40 more	Copy number gain	See cases	GUncertain significance
Select item 148405	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85157671)x1	ALPK3, LINC00933 +41 more	Copy number loss	See cases	GUncertain significance
Select item 146523	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85123078)x1	ALPK3, LINC00933 +40 more	Copy number loss	See cases	GUncertain significance
Select item 57536	GRCh38/hg38 15q25.2-25.3(chr15:84391435-85185613)x1	ALPK3, LINC00933 +42 more	Copy number loss	See cases	GUncertain significance
Select item 560037	Single allele	ALPK3, LINC00933 +39 more	Deletion	not provided	GUncertain significance
Select item 1252141	NM_032856.5(WDR73):c.*172A>T	WDR73	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1226394	NM_032856.5(WDR73):c.*124G>A	WDR73	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256945	NM_032856.5(WDR73):c.*64C>G	WDR73	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1896197	NM_032856.5(WDR73):c.1133G>A (p.Arg378His)	WDR73 (R378H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 286528	NM_032856.5(WDR73):c.1132dup (p.Arg378fs)	WDR73 (R378fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1911057	NM_032856.5(WDR73):c.1132C>A (p.Arg378Ser)	WDR73 (R378S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1031002	NM_032856.5(WDR73):c.1132C>T (p.Arg378Cys)	WDR73 (R378C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 286399	NM_032856.5(WDR73):c.1132del (p.Arg378fs)	WDR73 (R378fs)	Deletion (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1012861	NM_032856.5(WDR73):c.1130C>T (p.Pro377Leu)	WDR73 (P377L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 738117	NM_032856.5(WDR73):c.1128C>T (p.Ala376=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2277506	NM_032856.5(WDR73):c.1127C>G (p.Ala376Gly)	WDR73 (A376G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1951533	NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr)	WDR73 (A376T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 786630	NM_032856.5(WDR73):c.1126G>T (p.Ala376Ser)	WDR73 (A376S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1176635	NM_032856.5(WDR73):c.1116G>A (p.Val372=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2438586	NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)	WDR73 (W369*)	Single nucleotide variant (nonsense +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 1344892	NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)	WDR73 (L366fs)	Microsatellite (frameshift variant +1 more)	Galloway-Mowat syndrome 1	GLikely pathogenic
Select item 1303291	NM_032856.5(WDR73):c.1097T>C (p.Leu366Pro)	WDR73 (L366P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167964	NM_032856.5(WDR73):c.1090G>A (p.Ala364Thr)	WDR73 (A364T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2218902	NM_032856.5(WDR73):c.1073T>C (p.Leu358Ser)	WDR73 (L358S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1638713	NM_032856.5(WDR73):c.1062A>G (p.Pro354=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2724474	NM_032856.5(WDR73):c.1053C>G (p.Pro351=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 620573	NM_032856.5(WDR73):c.1046G>A (p.Trp349Ter)	WDR73 (W349*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 208467	NM_032856.5(WDR73):c.1039C>T (p.His347Tyr)	WDR73 (H347Y)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GPathogenic
Select item 3043644	NM_032856.5(WDR73):c.1038C>T (p.Thr346=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	WDR73-related disorder	GLikely benign
Select item 2749073	NM_032856.5(WDR73):c.1018C>A (p.Pro340Thr)	WDR73 (P340T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 718589	NM_032856.5(WDR73):c.1011G>T (p.Gly337=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2888057	NM_032856.5(WDR73):c.1002T>C (p.Asp334=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1253486	NM_032856.5(WDR73):c.1001A>G (p.Asp334Gly)	WDR73 (D334G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2888597	NM_032856.5(WDR73):c.990C>T (p.His330=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801883	NM_032856.5(WDR73):c.989A>G (p.His330Arg)	WDR73 (H330R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 750750	NM_032856.5(WDR73):c.981C>T (p.His327=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749273	NM_032856.5(WDR73):c.972C>G (p.Leu324=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1219713	NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3])	WDR73	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 803114	NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])	WDR73	Microsatellite (inframe_deletion +1 more)	Galloway-Mowat syndrome 1 +1 more	GBenign
Select item 3332932	NM_032856.5(WDR73):c.957C>A (p.Ser319Arg)	WDR73 (S319R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2892872	NM_032856.5(WDR73):c.956G>A (p.Ser319Asn)	WDR73 (S319N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 598566	NM_032856.5(WDR73):c.952C>T (p.Arg318Trp)	WDR73 (R318W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1910051	NM_032856.5(WDR73):c.947G>C (p.Gly316Ala)	WDR73 (G316A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 208469	NM_032856.5(WDR73):c.940C>T (p.Gln314Ter)	WDR73 (Q314*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 500421	NM_032856.5(WDR73):c.935G>A (p.Arg312Gln)	WDR73 (R312Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2065324	NM_032856.5(WDR73):c.934C>T (p.Arg312Trp)	WDR73 (R312W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 2442033	NM_032856.5(WDR73):c.928G>T (p.Gly310Ter)	WDR73 (G310*)	Single nucleotide variant (nonsense +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 785506	NM_032856.5(WDR73):c.928G>A (p.Gly310Arg)	WDR73 (G310R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1911329	NM_032856.5(WDR73):c.916A>G (p.Thr306Ala)	WDR73 (T306A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975010	NM_032856.5(WDR73):c.915C>A (p.Ala305=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1966462	NM_032856.5(WDR73):c.912T>C (p.Asp304=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867457	NM_032856.5(WDR73):c.900C>T (p.Val300=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 225244	NM_032856.5(WDR73):c.888del (p.Phe296fs)	WDR73 (F296fs)	Deletion (frameshift variant +1 more)	WDR73-related disorder +2 more	GPathogenic
Select item 804250	NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)	WDR73 (G295D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2073673	NM_032856.5(WDR73):c.884-3C>T	WDR73	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1804613	NM_032856.5(WDR73):c.884-108C>G	WDR73	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250830	NM_032856.5(WDR73):c.884-149G>A	WDR73	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245598	NM_032856.5(WDR73):c.884-198A>G	WDR73	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254669	NM_032856.5(WDR73):c.883+282G>A	WDR73	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197499	NM_032856.5(WDR73):c.883+65C>A	WDR73	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784686	NM_032856.5(WDR73):c.883+8C>T	WDR73	Single nucleotide variant (intron variant)	Galloway-Mowat syndrome 1 +1 more	GBenign/Likely benign
Select item 2438585	NM_032856.5(WDR73):c.875C>T (p.Ala292Val)	WDR73 (A292V)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 1305612	NM_032856.5(WDR73):c.872T>C (p.Leu291Ser)	WDR73 (L291S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620324	NM_032856.5(WDR73):c.872T>A (p.Leu291Ter)	WDR73 (L291*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2160070	NM_032856.5(WDR73):c.857G>T (p.Gly286Val)	WDR73 (G286V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2015615	NM_032856.5(WDR73):c.847T>G (p.Trp283Gly)	WDR73 (W283G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302921	NM_032856.5(WDR73):c.838C>T (p.Arg280Ter)	WDR73 (R280*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3054147	NM_032856.5(WDR73):c.828A>G (p.Pro276=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	WDR73-related disorder	GLikely benign
Select item 1551791	NM_032856.5(WDR73):c.816T>C (p.Pro272=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	Galloway-Mowat syndrome 1 +1 more	GLikely benign
Select item 2533689	NM_032856.5(WDR73):c.814C>A (p.Pro272Thr)	WDR73 (P272T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1233596	NM_032856.5(WDR73):c.810C>T (p.Ser270=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2246679	NM_032856.5(WDR73):c.784G>T (p.Val262Leu)	WDR73 (V262L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1578075	NM_032856.5(WDR73):c.774C>T (p.Leu258=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 635182	NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)	WDR73 (R256Q)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GLikely pathogenic
Select item 162611	NM_032856.5(WDR73):c.766dup (p.Arg256fs)	WDR73 (R256fs)	Duplication (frameshift variant +1 more)	Galloway-Mowat syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 450013	NM_032856.5(WDR73):c.766C>T (p.Arg256Trp)	WDR73 (R256W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 817296	NM_032856.5(WDR73):c.750_751del (p.Cys251fs)	WDR73 (C251fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1226193	NM_032856.5(WDR73):c.746G>A (p.Arg249His)	WDR73 (R249H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2438584	NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)	WDR73 (R249C)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 2170134	NM_032856.5(WDR73):c.732T>G (p.Leu244=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2479278	NM_032856.5(WDR73):c.731T>C (p.Leu244Pro)	WDR73 (L244P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 807718	NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)	WDR73 (S240fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 3032410	NM_032856.5(WDR73):c.714G>C (p.Gly238=)	WDR73	Single nucleotide variant (synonymous variant +1 more)	WDR73-related disorder	GLikely benign
Select item 803115	NM_032856.5(WDR73):c.710dup (p.Gly238fs)	WDR73 (G238fs)	Duplication (frameshift variant +1 more)	Galloway-Mowat syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 208465	NM_032856.5(WDR73):c.703C>T (p.Gln235Ter)	WDR73 (Q235*)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2394918	NM_032856.5(WDR73):c.697T>C (p.Trp233Arg)	WDR73 (W233R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2238736	NM_032856.5(WDR73):c.695G>C (p.Ser232Thr)	WDR73 (S232T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 812996	NM_032856.5(WDR73):c.681T>A (p.Cys227Ter)	WDR73 (C227*)	Single nucleotide variant (nonsense +1 more)	Dystonic disorder	GPathogenic
Select item 1953148	NM_032856.5(WDR73):c.674_675del (p.Arg225fs)	WDR73 (R225fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1878553	NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)	WDR73 (S216N)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GUncertain significance
Select item 2073070	NM_032856.5(WDR73):c.644G>A (p.Arg215His)	WDR73 (R215H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438587	NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)	WDR73 (R215C)	Single nucleotide variant (missense variant +1 more)	Galloway-Mowat syndrome 1	GUncertain significance

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