ClinVar for MedGen (Select 482242) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1686922	NM_025132.4(WDR19):c.1853T>C (p.Leu618Pro)	WDR19 (L458P)	Single nucleotide variant (missense variant)	Nephronophthisis 13	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 974370	NM_025132.4(WDR19):c.2333C>G (p.Ser778Ter)	WDR19 (S618* +1 more)	Single nucleotide variant (nonsense)	Nephronophthisis 13	GPathogenic
Select item 974369	NM_025132.4(WDR19):c.1442A>G (p.His481Arg)	WDR19 (H321R +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13	GLikely pathogenic
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 917968	NM_025132.4(WDR19):c.1559T>C (p.Ile520Thr)	WDR19 (I360T +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13	GLikely pathogenic
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 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 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 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 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 899680	NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)	WDR19 (A387T +1 more)	Single nucleotide variant (missense variant)	Cranioectodermal dysplasia 4 +4 more	GUncertain significance
Select item 899610	NM_025132.4(WDR19):c.778C>T (p.His260Tyr)	WDR19 (H100Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 899609	NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)	WDR19 (D70A +1 more)	Single nucleotide variant (missense variant)	WDR19-related condition +6 more	GUncertain significance
Select item 861102	NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser)	WDR19 (N720S +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +5 more	GUncertain significance
Select item 858859	NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala)	WDR19 (P1115A +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 851650	NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu)	WDR19 (D578E +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +4 more	GUncertain significance
Select item 848571	NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu)	WDR19 (S889L +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 848468	NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln)	WDR19 (R352Q +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 845048	NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr)	WDR19 (A904T +1 more)	Single nucleotide variant (missense variant)	Senior-Loken syndrome 8 +4 more	GUncertain significance
Select item 841262	NM_025132.4(WDR19):c.961+2T>C	WDR19	Single nucleotide variant (splice donor variant)	Asphyxiating thoracic dystrophy 5 +4 more	GLikely pathogenic
Select item 836791	NM_025132.4(WDR19):c.1796C>T (p.Ala599Val)	WDR19 (A439V +1 more)	Single nucleotide variant (missense variant)	Nephronophthisis 13 +5 more	GUncertain significance
Select item 784911	NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +3 more	GBenign/Likely benign
Select item 772721	NM_025132.4(WDR19):c.1797T>G (p.Ala599=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +5 more	GLikely benign
Select item 767458	NM_025132.4(WDR19):c.2363+7C>T	WDR19	Single nucleotide variant (intron variant)	Senior-Loken syndrome 8 +5 more	GLikely benign
Select item 749437	NM_025132.4(WDR19):c.3624C>T (p.Asn1208=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +5 more	GLikely benign
Select item 723397	NM_025132.4(WDR19):c.3951T>C (p.Cys1317=)	WDR19	Single nucleotide variant (synonymous variant)	Senior-Loken syndrome 8 +4 more	GLikely benign

<< First< Prev

Page of 2