ClinVar for Gene (Select 9948) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332705	NM_017491.5(WDR1):c.565A>T (p.Ser189Cys)	WDR1 (S189C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332704	NM_017491.5(WDR1):c.355G>A (p.Val119Met)	WDR1 (V119M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332703	NM_017491.5(WDR1):c.322A>G (p.Ile108Val)	WDR1 (I108V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332702	NM_017491.5(WDR1):c.895G>A (p.Gly299Arg)	WDR1 (G159R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3189826	NM_017491.5(WDR1):c.43G>A (p.Val15Met)	WDR1 (V15M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189825	NM_017491.5(WDR1):c.171C>T (p.His57=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3189824	NM_017491.5(WDR1):c.1525G>A (p.Ala509Thr)	WDR1 (A509T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3055766	NM_017491.5(WDR1):c.1569+10G>T	WDR1	Single nucleotide variant (intron variant)	WDR1-related disorder	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 3020343	NM_017491.5(WDR1):c.139-15G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013859	NM_017491.5(WDR1):c.111A>G (p.Gly37=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012371	NM_017491.5(WDR1):c.780T>A (p.Ile260=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008791	NM_017491.5(WDR1):c.1077C>T (p.Phe359=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008747	NM_017491.5(WDR1):c.1197-20G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008192	NM_017491.5(WDR1):c.559-19G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007775	NM_017491.5(WDR1):c.16+7G>A	LOC129992246, WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006437	NM_017491.5(WDR1):c.138+9C>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005911	NM_017491.5(WDR1):c.1197-15C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002359	NM_017491.5(WDR1):c.1668G>A (p.Val556=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002329	NM_017491.5(WDR1):c.1570-8G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000527	NM_017491.5(WDR1):c.16+17G>T	LOC129992246, WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998842	NM_017491.5(WDR1):c.1396-18T>C	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996882	NM_017491.5(WDR1):c.996C>G (p.Gly332=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984388	NM_017491.5(WDR1):c.229+19G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981237	NM_017491.5(WDR1):c.230-19C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980075	NM_017491.5(WDR1):c.559-7C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979387	NM_017491.5(WDR1):c.1137C>T (p.Leu379=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972620	NM_017491.5(WDR1):c.1820G>A (p.Ter607=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967911	NM_017491.5(WDR1):c.1395+20C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966818	NM_017491.5(WDR1):c.1570-21_1570-20del	WDR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2965646	NM_017491.5(WDR1):c.1566C>T (p.Tyr522=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955009	NM_017491.5(WDR1):c.138+17C>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911625	NM_017491.5(WDR1):c.1356A>T (p.Ala452=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906992	NM_017491.5(WDR1):c.534A>G (p.Pro178=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2904030	NM_017491.5(WDR1):c.525G>A (p.Glu175=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901172	NM_017491.5(WDR1):c.102C>T (p.Tyr34=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899081	NM_017491.5(WDR1):c.1078G>A (p.Ala360Thr)	WDR1 (A360T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898044	NM_017491.5(WDR1):c.441A>G (p.Lys147=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896941	NM_017491.5(WDR1):c.1521C>T (p.Cys507=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892816	NM_017491.5(WDR1):c.1767G>A (p.Thr589=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890630	NM_017491.5(WDR1):c.1497C>T (p.His499=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886873	NM_017491.5(WDR1):c.354C>T (p.Ala118=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880555	NM_017491.5(WDR1):c.1395+18C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873853	NM_017491.5(WDR1):c.12G>A (p.Glu4=)	LOC129992246, WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872698	NM_017491.5(WDR1):c.1491C>T (p.Tyr497=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867630	NM_017491.5(WDR1):c.87C>T (p.Gly29=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866001	NM_017491.5(WDR1):c.1196+15G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863454	NM_017491.5(WDR1):c.636+17G>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862555	NM_017491.5(WDR1):c.1285-7G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857652	NM_017491.5(WDR1):c.229+8A>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856930	NM_017491.5(WDR1):c.377+8A>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855196	NM_017491.5(WDR1):c.198T>C (p.Tyr66=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854380	NM_017491.5(WDR1):c.897G>A (p.Gly299=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849241	NM_017491.5(WDR1):c.924C>T (p.Asn308=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843171	NM_017491.5(WDR1):c.1146C>T (p.Cys382=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836689	NM_017491.5(WDR1):c.492G>C (p.Thr164=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827803	NM_017491.5(WDR1):c.129G>A (p.Arg43=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824583	NM_017491.5(WDR1):c.69C>T (p.Ile23=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822536	NM_017491.5(WDR1):c.354C>A (p.Ala118=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2810138	NM_017491.5(WDR1):c.474_475delinsAA (p.Pro159Thr)	WDR1 (P159T)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2804989	NM_017491.5(WDR1):c.1542A>G (p.Thr514=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804299	NM_017491.5(WDR1):c.559-20A>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803469	NM_017491.5(WDR1):c.582T>C (p.Cys194=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800908	NM_017491.5(WDR1):c.1197-11C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798006	NM_017491.5(WDR1):c.138+19G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797649	NM_017491.5(WDR1):c.99G>A (p.Leu33=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796266	NM_017491.5(WDR1):c.637-9dup	WDR1	Duplication (intron variant)	not provided	GLikely benign
Select item 2795760	NM_017491.5(WDR1):c.16+9C>T	LOC129992246, WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789762	NM_017491.5(WDR1):c.378-18C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787061	NM_017491.5(WDR1):c.558+8A>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784185	NM_017491.5(WDR1):c.230-15C>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777808	NM_017491.5(WDR1):c.16+18G>A	LOC129992246, WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777648	NM_017491.5(WDR1):c.1715-18T>C	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768477	NM_017491.5(WDR1):c.139-9C>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755668	NM_017491.5(WDR1):c.936C>G (p.Pro312=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753612	NM_017491.5(WDR1):c.1008C>G (p.Tyr336Ter)	WDR1 (Y196* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2753611	NM_017491.5(WDR1):c.1171A>G (p.Thr391Ala)	WDR1 (T391A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752582	NM_017491.5(WDR1):c.229+9_229+10dup	WDR1	Duplication (intron variant)	not provided	GLikely benign
Select item 2746257	NM_017491.5(WDR1):c.1396-19C>T	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745249	NM_017491.5(WDR1):c.1196+18T>C	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738164	NM_017491.5(WDR1):c.637-16T>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733613	NM_017491.5(WDR1):c.531C>A (p.Pro177=)	WDR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2725824	NM_017491.5(WDR1):c.1570-11C>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2725060	NM_017491.5(WDR1):c.1512C>T (p.Leu504=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720034	NM_017491.5(WDR1):c.1176C>T (p.Ser392=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719880	NM_017491.5(WDR1):c.1396-13G>A	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713754	NM_017491.5(WDR1):c.1584T>C (p.Phe528=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713210	NM_017491.5(WDR1):c.1059G>A (p.Thr353=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712158	NM_017491.5(WDR1):c.1570-15T>G	WDR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707822	NM_017491.5(WDR1):c.66C>T (p.Ile22=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706968	NM_017491.5(WDR1):c.99G>C (p.Leu33=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703367	NM_017491.5(WDR1):c.1608C>G (p.Val536=)	WDR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701624	NM_017491.5(WDR1):c.378-5T>G	WDR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688339	NM_017491.5(WDR1):c.138+99C>G	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688288	NM_017491.5(WDR1):c.558+58C>T	WDR1	Single nucleotide variant (intron variant)	not specified	GBenign

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