ClinVar for MedGen (Select 482246) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663918	NM_025132.4(WDR19):c.[291-21A>G];[542C>G]			Cranioectodermal dysplasia 4	GUncertain significance
Select item 2506392	NM_025132.4(WDR19):c.98+5G>T	WDR19	Single nucleotide variant (intron variant)	Cranioectodermal dysplasia 4	GUncertain significance
Select item 2506391	NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)	WDR19 (Q803* +1 more)	Single nucleotide variant (nonsense)	Cranioectodermal dysplasia 4	GLikely pathogenic
Select item 1686924	NM_025132.4(WDR19):c.2645+1G>T	WDR19	Single nucleotide variant (splice donor variant)	Cranioectodermal dysplasia 4	GPathogenic
Select item 1686923	NM_025132.4(WDR19):c.956del (p.Asn319fs)	WDR19 (N159fs +1 more)	Deletion (frameshift variant)	Cranioectodermal dysplasia 4	GPathogenic
Select item 1684225	NM_025132.4(WDR19):c.3716+46dup	WDR19	Duplication (intron variant)	Senior-Loken syndrome 8 +3 more	GBenign
Select item 1658609	NM_025132.4(WDR19):c.2876+10T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +5 more	GLikely benign
Select item 1636178	NM_025132.4(WDR19):c.522+13C>T	WDR19	Single nucleotide variant (intron variant)	Spermatogenic failure 72 +4 more	GLikely benign
Select item 1627893	NM_025132.4(WDR19):c.42C>T (p.Gly14=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +5 more	GLikely benign
Select item 1627629	NM_025132.4(WDR19):c.962-11G>A	WDR19	Single nucleotide variant (intron variant)	Nephronophthisis 13 +4 more	GLikely benign
Select item 1617074	NM_025132.4(WDR19):c.2876+10T>A	WDR19	Single nucleotide variant (intron variant)	Spermatogenic failure 72 +4 more	GLikely benign
Select item 1615660	NM_025132.4(WDR19):c.1791T>C (p.Ile597=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1601288	NM_025132.4(WDR19):c.3261+20C>T	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GBenign/Likely benign
Select item 1583952	NM_025132.4(WDR19):c.3716+13G>A	WDR19	Single nucleotide variant (intron variant)	Spermatogenic failure 72 +4 more	GLikely benign
Select item 1569404	NM_025132.4(WDR19):c.99-11A>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1552851	NM_025132.4(WDR19):c.3358+14A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1528560	NM_025132.4(WDR19):c.2646-16G>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1525562	NM_025132.4(WDR19):c.3114+3T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1524948	NM_025132.4(WDR19):c.2779G>A (p.Val927Ile)	WDR19 (V767I +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1509262	NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met)	WDR19 (I1033M +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1499256	NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys)	WDR19 (R1094C +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1491038	NM_025132.4(WDR19):c.977C>G (p.Ser326Cys)	WDR19 (S326C +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1479554	NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys)	WDR19 (Q659K +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GUncertain significance
Select item 1466378	NM_025132.4(WDR19):c.2618C>T (p.Ala873Val)	WDR19 (A713V +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1428900	NM_025132.4(WDR19):c.1486G>A (p.Val496Ile)	WDR19 (V336I +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +5 more	GUncertain significance
Select item 1428451	NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys)	WDR19 (Y454C +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1419711	NM_025132.4(WDR19):c.4014G>A (p.Thr1338=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +4 more	GConflicting classifications of pathogenicity
Select item 1410350	NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr)	WDR19 (P390T +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1403988	NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile)	WDR19 (T570I +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1403803	NM_025132.4(WDR19):c.2066T>C (p.Met689Thr)	WDR19 (M529T +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1390180	NM_025132.4(WDR19):c.3281G>A (p.Arg1094His)	WDR19 (R1094H +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1385976	NM_025132.4(WDR19):c.6+3A>G	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1385494	NM_025132.4(WDR19):c.1391G>A (p.Arg464His)	WDR19 (R304H +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1382656	NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)	WDR19 (Q947* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +4 more	GPathogenic/Likely pathogenic
Select item 1374474	NM_025132.4(WDR19):c.814C>T (p.Arg272Cys)	WDR19 (R272C +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1372536	NM_025132.4(WDR19):c.512C>T (p.Thr171Met)	WDR19 (T11M +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1372340	NM_025132.4(WDR19):c.3646A>G (p.Met1216Val)	WDR19 (M1056V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +4 more	GUncertain significance
Select item 1369125	NM_025132.4(WDR19):c.2450T>A (p.Val817Glu)	WDR19 (V657E +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1368531	NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys)	WDR19 (T985K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +4 more	GUncertain significance
Select item 1345981	NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg)	WDR19 (Q179R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1265246	NM_025132.4(WDR19):c.3841-27T>C	WDR19	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1249114	NM_025132.4(WDR19):c.603+23C>T	WDR19	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1213952	NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)	WDR19 (R669* +1 more)	Single nucleotide variant (nonsense)	Senior-Loken syndrome 8 +5 more	GPathogenic/Likely pathogenic
Select item 1213951	NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe)	WDR19 (L328F +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +5 more	GUncertain significance
Select item 1179139	NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)	WDR19 (Y708fs +1 more)	Microsatellite (frameshift variant)	Nephronophthisis 13 +3 more	GPathogenic/Likely pathogenic
Select item 1168880	NM_025132.4(WDR19):c.2364-4del	WDR19	Deletion (intron variant)	Nephronophthisis 13 +5 more	GBenign/Likely benign
Select item 1165987	NM_025132.4(WDR19):c.1039C>T (p.Leu347=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +5 more	GBenign/Likely benign
Select item 1147890	NM_025132.4(WDR19):c.2607C>T (p.Tyr869=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1143211	NM_025132.4(WDR19):c.1350A>G (p.Leu450=)	WDR19	Single nucleotide variant (synonymous variant)	Spermatogenic failure 72 +4 more	GLikely benign
Select item 1125090	NM_025132.4(WDR19):c.513G>T (p.Thr171=)	WDR19	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1114878	NM_025132.4(WDR19):c.2646-5T>C	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1106623	NM_025132.4(WDR19):c.1962A>G (p.Ala654=)	WDR19	Single nucleotide variant (synonymous variant)	Spermatogenic failure 72 +4 more	GLikely benign
Select item 1101055	NM_025132.4(WDR19):c.2877-12A>G	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely benign
Select item 1091800	NM_025132.4(WDR19):c.6+6_6+8del	WDR19	Deletion (intron variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1088107	NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1084470	NM_025132.4(WDR19):c.1357-8C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +4 more	GLikely benign
Select item 1060869	NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp)	WDR19 (R1018W +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1059697	NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys)	WDR19 (Y1010C +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1051082	NM_025132.4(WDR19):c.1956G>C (p.Met652Ile)	WDR19 (M492I +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 1044527	NM_025132.4(WDR19):c.8G>A (p.Arg3His)	WDR19 (R3H)	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1025091	NM_025132.4(WDR19):c.2059C>T (p.His687Tyr)	WDR19 (H527Y +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1020422	NM_025132.4(WDR19):c.664C>G (p.Pro222Ala)	WDR19 (P222A +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1015081	NM_025132.4(WDR19):c.2464A>G (p.Ile822Val)	WDR19 (I662V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +4 more	GConflicting classifications of pathogenicity
Select item 1014907	NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)	WDR19 (F1017V +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +6 more	GUncertain significance
Select item 1005969	NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala)	WDR19 (T205A +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1005552	NM_025132.4(WDR19):c.326G>A (p.Gly109Glu)	WDR19 (G109E)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 1003404	NM_025132.4(WDR19):c.343G>A (p.Gly115Arg)	WDR19 (G115R)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 72 +4 more	GUncertain significance
Select item 1000954	NM_025132.4(WDR19):c.1234G>A (p.Val412Ile)	WDR19 (V252I +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 1000478	NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr)	WDR19 (A1163T +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 994169	NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser)	WDR19 (Y538S +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GUncertain significance
Select item 967099	NM_025132.4(WDR19):c.1127T>C (p.Val376Ala)	WDR19 (V216A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 72 +4 more	GUncertain significance
Select item 966166	NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn)	WDR19 (D1168N +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GUncertain significance
Select item 963718	NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser)	WDR19 (N231S +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 960722	NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu)	WDR19 (P1220L +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 957478	NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met)	WDR19 (T1090M +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 953767	NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly)	WDR19 (A213G +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GUncertain significance
Select item 937270	NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln)	WDR19 (R963Q +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GUncertain significance
Select item 931286	NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg)	WDR19 (C1132R +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4	GUncertain significance
Select item 930989	NM_025132.4(WDR19):c.291-12_291-11del	WDR19	Deletion (intron variant)	Cranioectodermal dysplasia 4	GUncertain significance
Select item 903472	NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly)	WDR19 (A1068G +1 more)	Single nucleotide variant (missense variant)	WDR19-related condition +7 more	GUncertain significance
Select item 903419	NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser)	WDR19 (Y863S +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +2 more	GUncertain significance
Select item 903418	NM_025132.4(WDR19):c.3042C>T (p.Ala1014=)	WDR19	Single nucleotide variant (synonymous variant)	Cranioectodermal dysplasia 4 +2 more	GConflicting classifications of pathogenicity
Select item 903358	NM_025132.4(WDR19):c.2251G>A (p.Glu751Lys)	WDR19 (E751K +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 903214	NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)	WDR19 (K160R)	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 4 +5 more	GUncertain significance
Select item 902621	NM_025132.4(WDR19):c.3484-15T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +2 more	GConflicting classifications of pathogenicity
Select item 902620	NM_025132.4(WDR19):c.3483+11T>C	WDR19	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 5 +2 more	GConflicting classifications of pathogenicity
Select item 902570	NM_025132.4(WDR19):c.2872G>C (p.Ala958Pro)	WDR19 (A958P +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 902493	NM_025132.4(WDR19):c.2087G>A (p.Arg696His)	WDR19 (R536H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 902492	NM_025132.4(WDR19):c.1960G>A (p.Ala654Thr)	WDR19 (A494T +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 902353	NM_025132.4(WDR19):c.171T>C (p.Cys57=)	WDR19	Single nucleotide variant (5 prime UTR variant +1 more)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 902352	NM_025132.4(WDR19):c.128G>A (p.Arg43His)	WDR19 (R43H)	Single nucleotide variant (5 prime UTR variant +1 more)	Asphyxiating thoracic dystrophy 5 +2 more	GUncertain significance
Select item 901590	NM_025132.4(WDR19):c.*296T>G	WDR19	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 901037	NM_025132.4(WDR19):c.*124T>G	WDR19	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 900966	NM_025132.4(WDR19):c.3483+5G>A	WDR19	Single nucleotide variant (intron variant)	WDR19-related condition +6 more	GUncertain significance
Select item 900965	NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys)	WDR19 (E1146K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 900898	NM_025132.4(WDR19):c.2430T>G (p.Asp810Glu)	WDR19 (D650E +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 900817	NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)	WDR19 (Q432L +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 899865	NM_025132.4(WDR19):c.*106T>G	WDR19	Single nucleotide variant (3 prime UTR variant)	Cranioectodermal dysplasia 4 +1 more	GUncertain significance
Select item 899864	NM_025132.4(WDR19):c.*83G>C	WDR19	Single nucleotide variant (3 prime UTR variant)	Asphyxiating thoracic dystrophy 5 +1 more	GUncertain significance
Select item 899742	NM_025132.4(WDR19):c.2386G>A (p.Ala796Thr)	WDR19 (A636T +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GConflicting classifications of pathogenicity

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