ClinVar for Gene (Select 57728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189888	NM_025132.4(WDR19):c.59C>T (p.Ala20Val)	WDR19 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189887	NM_025132.4(WDR19):c.466G>A (p.Gly156Ser)	WDR19 (G156S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189886	NM_025132.4(WDR19):c.3269A>C (p.Lys1090Thr)	WDR19 (K1090T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189885	NM_025132.4(WDR19):c.3131T>G (p.Leu1044Arg)	WDR19 (L1044R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189884	NM_025132.4(WDR19):c.2674G>C (p.Val892Leu)	WDR19 (V732L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189883	NM_025132.4(WDR19):c.257C>A (p.Thr86Lys)	WDR19 (T86K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189882	NM_025132.4(WDR19):c.2482C>T (p.Arg828Cys)	WDR19 (R668C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189881	NM_025132.4(WDR19):c.1645T>C (p.Tyr549His)	WDR19 (Y389H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189880	NM_025132.4(WDR19):c.1501T>G (p.Tyr501Asp)	WDR19 (Y341D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3042085	NM_025132.4(WDR19):c.1935G>A (p.Gly645=)	WDR19	Single nucleotide variant (synonymous variant)	WDR19-related condition	GLikely benign
Select item 3032442	NM_025132.4(WDR19):c.2778T>C (p.Ser926=)	WDR19	Single nucleotide variant (synonymous variant)	WDR19-related condition	GLikely benign
Select item 2954298	NM_025132.4(WDR19):c.1983-11T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2953818	NM_025132.4(WDR19):c.2730-18T>A	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2953107	NM_025132.4(WDR19):c.918A>G (p.Leu306=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2952890	NM_025132.4(WDR19):c.2364-5_2364-4del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +1 more	GBenign
Select item 2951983	NM_025132.4(WDR19):c.1778-5T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +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)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2933476	NM_025132.4(WDR19):c.1599T>C (p.Asp533=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +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)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2925083	NM_025132.4(WDR19):c.3406C>T (p.Leu1136=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2925026	NM_025132.4(WDR19):c.2138_2139del (p.Ile713fs)	WDR19 (I713fs +1 more)	Deletion (frameshift variant)	Senior-Loken syndrome 8 +1 more	GPathogenic
Select item 2924813	NM_025132.4(WDR19):c.604-19T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2924444	NM_025132.4(WDR19):c.1014C>A (p.Thr338=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +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)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2924121	NM_025132.4(WDR19):c.3639C>T (p.Phe1213=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2923791	NM_025132.4(WDR19):c.2729+9A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2923456	NM_025132.4(WDR19):c.3114+13C>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2922366	NM_025132.4(WDR19):c.826_827del (p.Lys275_Asp276insTer)	WDR19	Deletion (nonsense)	Asphyxiating thoracic dystrophy 5 +1 more	GPathogenic
Select item 2921960	NM_025132.4(WDR19):c.3001+15_3001+16del	WDR19	Deletion (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2921836	NM_025132.4(WDR19):c.3566-17C>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely benign
Select item 2921540	NM_025132.4(WDR19):c.523-12T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2921457	NM_025132.4(WDR19):c.558T>C (p.Phe186=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +1 more	GLikely benign
Select item 2663918	NM_025132.4(WDR19):c.[291-21A>G];[542C>G]			Cranioectodermal dysplasia 4	GUncertain significance
Select item 2663917	NM_025132.4(WDR19):c.542C>G (p.Pro181Arg)	WDR19 (P181R +1 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2663916	NM_025132.4(WDR19):c.291-21A>G	WDR19	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2627408	NM_025132.4(WDR19):c.1015C>T (p.Gln339Ter)	WDR19 (Q179* +1 more)	Single nucleotide variant (nonsense)	Nephronophthisis 13	GLikely pathogenic
Select item 2610441	NM_025132.4(WDR19):c.3007G>A (p.Glu1003Lys)	WDR19 (E843K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609132	NM_025132.4(WDR19):c.3653T>C (p.Met1218Thr)	WDR19 (M1058T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608160	NM_025132.4(WDR19):c.1569C>A (p.Asp523Glu)	WDR19 (D523E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598072	NM_025132.4(WDR19):c.1217A>G (p.Asn406Ser)	WDR19 (N406S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582439	NM_025132.4(WDR19):c.1304T>G (p.Leu435Arg)	WDR19 (L275R +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic

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