ClinVar for MedGen (Select 905171) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 931

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246692	NC_000004.11:g.(?_39184178)_(39191421_?)del	WDR19	Deletion	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2954298	NM_025132.4(WDR19):c.1983-11T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2953818	NM_025132.4(WDR19):c.2730-18T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2953107	NM_025132.4(WDR19):c.918A>G (p.Leu306=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2952890	NM_025132.4(WDR19):c.2364-5_2364-4del	WDR19	Deletion (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GBenign
Select item 2951983	NM_025132.4(WDR19):c.1778-5T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2951442	NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)	WDR19 (E704G +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2950738	NM_025132.4(WDR19):c.3582G>A (p.Leu1194=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2950423	NM_025132.4(WDR19):c.2268A>G (p.Leu756=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2949860	NM_025132.4(WDR19):c.3841-13A>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2949582	NM_025132.4(WDR19):c.1249+16G>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2948493	NM_025132.4(WDR19):c.1479+15C>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2947058	NM_025132.4(WDR19):c.2562+19_2562+28del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2946496	NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)	WDR19 (Q957K +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2945979	NM_025132.4(WDR19):c.2771G>A (p.Trp924Ter)	WDR19 (W924* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2945322	NM_025132.4(WDR19):c.1038C>T (p.Phe346=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2945236	NM_025132.4(WDR19):c.2574A>G (p.Glu858=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2944824	NM_025132.4(WDR19):c.3304_3358+36del	WDR19	Deletion (splice donor variant)	Senior-Loken syndrome 8 +1 more	GLikely pathogenic
Select item 2944738	NM_025132.4(WDR19):c.3565+17A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2944319	NM_025132.4(WDR19):c.18A>C (p.Ser6=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2944254	NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)	WDR19 (D553G +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2943558	NM_025132.4(WDR19):c.2422-13C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2942505	NM_025132.4(WDR19):c.2276G>A (p.Trp759Ter)	WDR19 (W599* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2942314	NM_025132.4(WDR19):c.3358+16G>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2942259	NM_025132.4(WDR19):c.2277G>A (p.Trp759Ter)	WDR19 (W759* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2941806	NM_025132.4(WDR19):c.1867_1868del (p.Gln623fs)	WDR19 (Q463fs +1 more)	Microsatellite (frameshift variant)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2941621	NM_025132.4(WDR19):c.1803C>T (p.Ser601=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2941601	NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)	WDR19 (A636S +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2941517	NM_025132.4(WDR19):c.1983-10T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2940522	NM_025132.4(WDR19):c.333C>T (p.Phe111=)	WDR19	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2940430	NM_025132.4(WDR19):c.3258T>G (p.Pro1086=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2940101	NM_025132.4(WDR19):c.2772G>A (p.Trp924Ter)	WDR19 (W764* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2939822	NM_025132.4(WDR19):c.3918-11C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2939678	NM_025132.4(WDR19):c.3359-6T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2939577	NM_025132.4(WDR19):c.2085C>T (p.Ile695=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2939330	NM_025132.4(WDR19):c.2904G>A (p.Gly968=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2939241	NM_025132.4(WDR19):c.6+20C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2938817	NM_025132.4(WDR19):c.2364-2A>G	WDR19	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 8 +1 more	GLikely pathogenic
Select item 2938530	NM_025132.4(WDR19):c.717-19G>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2938409	NM_025132.4(WDR19):c.3528C>T (p.Leu1176=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2938407	NM_025132.4(WDR19):c.3001+17C>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2937917	NM_025132.4(WDR19):c.603+15C>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2937792	NM_025132.4(WDR19):c.654A>G (p.Glu218=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2937672	NM_025132.4(WDR19):c.1777+1del	WDR19	Deletion (splice donor variant)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2937133	NM_025132.4(WDR19):c.962-7A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2936653	NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)	WDR19 (L1078F +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2935422	NM_025132.4(WDR19):c.717-4A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2935397	NM_025132.4(WDR19):c.2730-5dup	WDR19	Duplication (intron variant)	Senior-Loken syndrome 8 +1 more	GBenign
Select item 2935109	NM_025132.4(WDR19):c.384A>G (p.Thr128=)	WDR19	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2934982	NM_025132.4(WDR19):c.3306C>T (p.Tyr1102=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2933986	NM_025132.4(WDR19):c.1428C>T (p.Cys476=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2933480	NM_025132.4(WDR19):c.2056C>T (p.Leu686=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2933476	NM_025132.4(WDR19):c.1599T>C (p.Asp533=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2931481	NM_025132.4(WDR19):c.3012C>T (p.Asp1004=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2929954	NM_025132.4(WDR19):c.2877-13T>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2928732	NM_025132.4(WDR19):c.1534C>T (p.Arg512Ter)	WDR19 (R512* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2928541	NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)	WDR19 (A812G +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2927131	NM_025132.4(WDR19):c.961+88T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2927080	NM_025132.4(WDR19):c.3358+20del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2926566	NM_025132.4(WDR19):c.1629+13C>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2926310	NM_025132.4(WDR19):c.2022T>C (p.Asp674=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2925976	NM_025132.4(WDR19):c.716+1G>C	WDR19	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 8 +1 more	GLikely pathogenic
Select item 2925837	NM_025132.4(WDR19):c.7-7T>A	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2925162	NM_025132.4(WDR19):c.2394T>C (p.Tyr798=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2925083	NM_025132.4(WDR19):c.3406C>T (p.Leu1136=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2925026	NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)	WDR19 (I713fs +1 more)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 5 +1 more	GPathogenic
Select item 2924813	NM_025132.4(WDR19):c.604-19T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2924444	NM_025132.4(WDR19):c.1014C>A (p.Thr338=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2924227	NM_025132.4(WDR19):c.1954A>G (p.Met652Val)	WDR19 (M652V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2924138	NM_025132.4(WDR19):c.3717-15G>A	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2924121	NM_025132.4(WDR19):c.3639C>T (p.Phe1213=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2923791	NM_025132.4(WDR19):c.2729+9A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2923456	NM_025132.4(WDR19):c.3114+13C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2922366	NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)	WDR19	Deletion (nonsense)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2921960	NM_025132.4(WDR19):c.3001+15_3001+16del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2921836	NM_025132.4(WDR19):c.3566-17C>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2921540	NM_025132.4(WDR19):c.523-12T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2921457	NM_025132.4(WDR19):c.558T>C (p.Phe186=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2504094	NM_025132.4(WDR19):c.2897A>G (p.Asp966Gly)	WDR19 (D806G +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8	GUncertain significance
Select item 2504093	NM_025132.4(WDR19):c.1010C>T (p.Ser337Phe)	WDR19 (S177F +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8	GUncertain significance
Select item 2427861	NM_025132.4(WDR19):c.1620T>C (p.Val540=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2426918	NC_000004.11:g.(?_39184178)_(39259194_?)dup	WDR19	Duplication	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2426917	NC_000004.11:g.(?_39218734)_(39219745_?)del	WDR19	Deletion	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2426916	NC_000004.11:g.(?_39216201)_(39218880_?)del	WDR19	Deletion	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2426915	NC_000004.11:g.(?_39226484)_(39226673_?)del	WDR19	Deletion	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2420550	NM_025132.4(WDR19):c.3753T>G (p.Thr1251=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2415476	NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)	WDR19 (R669G +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +2 more	GUncertain significance
Select item 2198666	NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)	WDR19 (R669Q +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2198541	NM_025132.4(WDR19):c.1521C>T (p.Phe507=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2196882	NM_025132.4(WDR19):c.2646-16G>A	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2195039	NM_025132.4(WDR19):c.373A>C (p.Asn125His)	WDR19 (N125H)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2194635	NM_025132.4(WDR19):c.768C>T (p.Val256=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2194382	NM_025132.4(WDR19):c.2193C>T (p.Asn731=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2193813	NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)	WDR19 (D417G +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 2193774	NM_025132.4(WDR19):c.3359-13A>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2191419	NM_025132.4(WDR19):c.768C>G (p.Val256=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2185688	NM_025132.4(WDR19):c.3184-7T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2184562	NM_025132.4(WDR19):c.522+8A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance
Select item 2184520	NM_025132.4(WDR19):c.3162A>C (p.Ala1054=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2183047	NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)	WDR19 (L835V +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +1 more	GUncertain significance

<< First< Prev

Page of 10