ClinVar for MedGen (Select 83337) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233372	NM_025000.4(DCAF17):c.127-1G>C	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3220932	NM_025000.4(DCAF17):c.628-2A>C	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3064196	NM_025000.4(DCAF17):c.322-2A>G	DCAF17	Single nucleotide variant (splice acceptor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3062274	NM_025000.4(DCAF17):c.1171dup (p.Glu391fs)	DCAF17 (E391fs)	Duplication (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 3024060	NM_025000.4(DCAF17):c.69C>T (p.Arg23=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3024054	NM_025000.4(DCAF17):c.1401A>G (p.Pro467=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3023522	NM_025000.4(DCAF17):c.51G>A (p.Ala17=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3019699	NM_025000.4(DCAF17):c.732+9A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3018791	NM_025000.4(DCAF17):c.733-16T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3017478	NM_025000.4(DCAF17):c.1A>T (p.Met1Leu)	DCAF17, METTL8 (M1L)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 3017196	NM_025000.4(DCAF17):c.322-16C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3017195	NM_025000.4(DCAF17):c.322-17_322-16insG	DCAF17	Insertion (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3010016	NM_025000.4(DCAF17):c.628-20T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3006080	NM_025000.4(DCAF17):c.321+18A>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3003648	NM_025000.4(DCAF17):c.1467C>T (p.His489=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 3000676	NM_025000.4(DCAF17):c.483A>G (p.Gln161=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2997678	NM_025000.4(DCAF17):c.48G>A (p.Arg16=)	METTL8, DCAF17	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2992541	NM_025000.4(DCAF17):c.126+18G>A	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2990677	NM_025000.4(DCAF17):c.1266+20T>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2989968	NM_025000.4(DCAF17):c.786T>C (p.Thr262=)	DCAF17	Single nucleotide variant (synonymous variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2983494	NM_025000.4(DCAF17):c.537+7A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2980783	NM_025000.4(DCAF17):c.230+13T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2976784	NM_025000.4(DCAF17):c.1183-9A>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2960660	NM_025000.4(DCAF17):c.1A>G (p.Met1Val)	DCAF17, METTL8 (M1V)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2960555	NM_025000.4(DCAF17):c.261A>G (p.Glu87=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2959263	NM_025000.4(DCAF17):c.1183-4A>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2956901	NM_025000.4(DCAF17):c.1395C>T (p.Ser465=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2956884	NM_025000.4(DCAF17):c.180C>G (p.Ala60=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2919305	NM_025000.4(DCAF17):c.1266+15A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2918775	NM_025000.4(DCAF17):c.90G>A (p.Arg30=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2918168	NM_025000.4(DCAF17):c.1422+19A>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2917250	NM_025000.4(DCAF17):c.1052_1058del (p.Ala351fs)	DCAF17 (A351fs)	Deletion (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2916775	NM_025000.4(DCAF17):c.732+16A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2916744	NM_025000.4(DCAF17):c.504A>G (p.Ser168=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2916401	NM_025000.4(DCAF17):c.135T>C (p.Thr45=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2916207	NM_025000.4(DCAF17):c.1530G>C (p.Gly510=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2916001	NM_025000.4(DCAF17):c.294G>A (p.Glu98=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2915353	NM_025000.4(DCAF17):c.249A>G (p.Arg83=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2914383	NM_025000.4(DCAF17):c.531C>T (p.Ala177=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2913150	NM_025000.4(DCAF17):c.207C>T (p.Asp69=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2913105	NM_025000.4(DCAF17):c.126+17C>T	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2912895	NM_025000.4(DCAF17):c.591T>A (p.Pro197=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2912860	NM_025000.4(DCAF17):c.723C>T (p.Ile241=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome +1 more	GLikely benign
Select item 2912669	NM_025000.4(DCAF17):c.1422+17G>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2911938	NM_025000.4(DCAF17):c.306A>G (p.Leu102=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2911606	NM_025000.4(DCAF17):c.627+17T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2911481	NM_025000.4(DCAF17):c.628-11C>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2910518	NM_025000.4(DCAF17):c.378T>C (p.Ala126=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2908460	NM_025000.4(DCAF17):c.81G>A (p.Val27=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2907916	NM_025000.4(DCAF17):c.230+9_230+10del	DCAF17	Deletion (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2906805	NM_025000.4(DCAF17):c.861G>A (p.Glu287=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2906180	NM_025000.4(DCAF17):c.115C>T (p.Leu39=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2905565	NM_025000.4(DCAF17):c.1182+7C>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2904922	NM_025000.4(DCAF17):c.1182+7C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2903771	NM_025000.4(DCAF17):c.588A>G (p.Leu196=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2902909	NM_025000.4(DCAF17):c.915C>T (p.Ile305=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2900757	NM_025000.4(DCAF17):c.322-5_322-3dup	DCAF17	Duplication (intron variant)	Woodhouse-Sakati syndrome	GBenign
Select item 2900299	NM_025000.4(DCAF17):c.504A>C (p.Ser168=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2898999	NM_025000.4(DCAF17):c.230+11A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2897652	NM_025000.4(DCAF17):c.127-18A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2889937	NM_025000.4(DCAF17):c.1092-10C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2889645	NM_025000.4(DCAF17):c.1428T>C (p.Tyr476=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2887571	NM_025000.4(DCAF17):c.654C>G (p.Thr218=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2886082	NM_025000.4(DCAF17):c.276C>G (p.Ser92=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2885422	NM_025000.4(DCAF17):c.322-8T>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2883525	NM_025000.4(DCAF17):c.109C>A (p.Arg37=)	DCAF17, METTL8	Single nucleotide variant (5 prime UTR variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2882775	NM_025000.4(DCAF17):c.459-13A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2881291	NM_025000.4(DCAF17):c.630T>C (p.Ile210=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2867077	NM_025000.4(DCAF17):c.214C>A (p.Arg72=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2866421	NM_025000.4(DCAF17):c.78C>A (p.Gly26=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2864335	NM_025000.4(DCAF17):c.1423-4A>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2863695	NM_025000.4(DCAF17):c.1097T>A (p.Leu366Ter)	DCAF17 (L366*)	Single nucleotide variant (nonsense +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2863104	NM_025000.4(DCAF17):c.705C>G (p.Leu235=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2863054	NM_025000.4(DCAF17):c.230+17_230+18insT	DCAF17	Insertion (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2863053	NM_025000.4(DCAF17):c.230+14del	DCAF17	Deletion (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2862216	NM_025000.4(DCAF17):c.1127del (p.Ser376fs)	DCAF17 (S376fs)	Deletion (frameshift variant +2 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2861439	NM_025000.4(DCAF17):c.435T>C (p.Tyr145=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2859801	NM_025000.4(DCAF17):c.810T>C (p.Phe270=)	DCAF17	Single nucleotide variant (synonymous variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2855533	NM_025000.4(DCAF17):c.732+11C>T	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2853046	NM_025000.4(DCAF17):c.733-20T>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2850504	NM_025000.4(DCAF17):c.576G>A (p.Val192=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2850434	NM_025000.4(DCAF17):c.539dup (p.Gly181fs)	DCAF17 (G181fs)	Duplication (frameshift variant +1 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2849074	NM_025000.4(DCAF17):c.230+10del	DCAF17	Deletion (intron variant)	Woodhouse-Sakati syndrome	GBenign
Select item 2848781	NM_025000.4(DCAF17):c.1267-18TATC[2]	DCAF17	Microsatellite (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2846332	NM_025000.4(DCAF17):c.1183-7A>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2845185	NM_025000.4(DCAF17):c.732+18T>G	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2840402	NM_025000.4(DCAF17):c.1271del (p.Phe424fs)	DCAF17 (F424fs +1 more)	Deletion (frameshift variant +1 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2839680	NM_025000.4(DCAF17):c.919A>C (p.Thr307Pro)	DCAF17 (T307P)	Single nucleotide variant (missense variant +1 more)	Woodhouse-Sakati syndrome	GUncertain significance
Select item 2837291	NM_025000.4(DCAF17):c.57C>T (p.Gly19=)	DCAF17, METTL8	Single nucleotide variant (synonymous variant +2 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2836155	NM_025000.4(DCAF17):c.1557C>T (p.Ser519=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2833560	NM_025000.4(DCAF17):c.538-16T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2833422	NM_025000.4(DCAF17):c.981+16G>A	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2829440	NM_025000.4(DCAF17):c.948T>G (p.Val316=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2827432	NM_025000.4(DCAF17):c.1092-2A>G	DCAF17	Single nucleotide variant (intron variant +1 more)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 2826025	NM_025000.4(DCAF17):c.363C>G (p.Leu121=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2822269	NM_025000.4(DCAF17):c.838+14A>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2822133	NM_025000.4(DCAF17):c.537+1G>T	DCAF17	Single nucleotide variant (splice donor variant)	Woodhouse-Sakati syndrome	GLikely pathogenic
Select item 2821852	NM_025000.4(DCAF17):c.554_555del (p.His185fs)	DCAF17 (H185fs)	Deletion (frameshift variant +1 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2821135	NM_025000.4(DCAF17):c.322-15T>C	DCAF17	Single nucleotide variant (intron variant)	Woodhouse-Sakati syndrome	GLikely benign
Select item 2821020	NM_025000.4(DCAF17):c.1527T>G (p.Thr509=)	DCAF17	Single nucleotide variant (synonymous variant +1 more)	Woodhouse-Sakati syndrome	GLikely benign

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