ClinVar for MedGen (Select 416381) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 153

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065340	NM_182758.4(WDR72):c.1348+1G>T	WDR72	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 3064917	NM_182758.4(WDR72):c.858-1G>C	WDR72	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2504595	NM_182758.4(WDR72):c.2864T>G (p.Leu955Ter)	WDR72 (L955*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445451	NM_182758.4(WDR72):c.1283T>G (p.Ile428Ser)	WDR72 (I428S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 2445449	NM_182758.4(WDR72):c.2388del (p.Lys796fs)	WDR72 (K796fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445448	NM_182758.4(WDR72):c.2146del (p.Ala716fs)	WDR72 (A716fs)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445445	NM_182758.4(WDR72):c.954+1_954+10del	WDR72	Deletion (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445444	NM_182758.4(WDR72):c.118C>T (p.Gln40Ter)	WDR72 (Q40*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 2445427	NM_182758.4:c.-13+989_7del	WDR72	Deletion	Amelogenesis imperfecta hypomaturation type 2A3	GLikely pathogenic
Select item 1278090	NM_182758.4(WDR72):c.2872+42del	WDR72	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1249601	NM_182758.4(WDR72):c.955-43C>A	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GBenign
Select item 887956	NM_182758.4(WDR72):c.857+9A>C	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely benign
Select item 887955	NM_182758.4(WDR72):c.957A>G (p.Glu319=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887897	NM_182758.4(WDR72):c.1963-10G>A	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887896	NM_182758.4(WDR72):c.2357T>G (p.Val786Gly)	WDR72 (V786G)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887895	NM_182758.4(WDR72):c.2444G>A (p.Cys815Tyr)	WDR72 (C815Y)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887837	NM_182758.4(WDR72):c.*640T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887836	NM_182758.4(WDR72):c.*647G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 887835	NM_182758.4(WDR72):c.*723C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887763	NM_182758.4(WDR72):c.*1350A>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887762	NM_182758.4(WDR72):c.*1528C>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887707	NM_182758.4(WDR72):c.*2003G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887706	NM_182758.4(WDR72):c.*2081C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GBenign
Select item 887705	NM_182758.4(WDR72):c.*2137T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887649	NM_182758.4(WDR72):c.*2642T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887648	NM_182758.4(WDR72):c.*2648C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887647	NM_182758.4(WDR72):c.*2650T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887585	NM_182758.4(WDR72):c.*3325G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 887584	NM_182758.4(WDR72):c.*3334A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887583	NM_182758.4(WDR72):c.*3459C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887465	NM_182758.4(WDR72):c.*2671G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887464	NM_182758.4(WDR72):c.*2766G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887399	NM_182758.4(WDR72):c.*3592A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 887398	NM_182758.4(WDR72):c.*3627C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887397	NM_182758.4(WDR72):c.*3691G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886752	NM_182758.4(WDR72):c.53A>G (p.His18Arg)	WDR72 (H18R)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886751	NM_182758.4(WDR72):c.127C>T (p.Leu43Phe)	WDR72 (L43F)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886750	NM_182758.4(WDR72):c.153+14A>C	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886703	NM_182758.4(WDR72):c.957A>T (p.Glu319Asp)	WDR72 (E319D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886702	NM_182758.4(WDR72):c.1288A>G (p.Ile430Val)	WDR72 (I430V)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886649	NM_182758.4(WDR72):c.2569T>C (p.Tyr857His)	WDR72 (Y857H)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886583	NM_182758.4(WDR72):c.*852G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 886582	NM_182758.4(WDR72):c.*956G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886581	NM_182758.4(WDR72):c.*1014T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886519	NM_182758.4(WDR72):c.*1553G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886518	NM_182758.4(WDR72):c.*1620C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886461	NM_182758.4(WDR72):c.*2209C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886460	NM_182758.4(WDR72):c.*2215G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886459	NM_182758.4(WDR72):c.*2378T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886458	NM_182758.4(WDR72):c.*2390C>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886457	NM_182758.4(WDR72):c.*2470A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886397	NM_182758.4(WDR72):c.*3810T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885746	NM_182758.4(WDR72):c.243T>C (p.Val81=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885693	NM_182758.4(WDR72):c.1476C>A (p.Ile492=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885692	NM_182758.4(WDR72):c.1529G>A (p.Gly510Asp)	WDR72 (G510D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885691	NM_182758.4(WDR72):c.1549A>G (p.Met517Val)	WDR72 (M517V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 885634	NM_182758.4(WDR72):c.2872+4A>G	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885633	NM_182758.4(WDR72):c.2942A>G (p.Gln981Arg)	WDR72 (Q981R)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 885632	NM_182758.4(WDR72):c.2985G>A (p.Ala995=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885631	NM_182758.4(WDR72):c.3128G>T (p.Arg1043Ile)	WDR72 (R1043I)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885630	NM_182758.4(WDR72):c.3245A>T (p.Glu1082Val)	WDR72 (E1082V +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885497	NM_182758.4(WDR72):c.*1853A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885496	NM_182758.4(WDR72):c.*1859A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885495	NM_182758.4(WDR72):c.*1866A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885435	NM_182758.4(WDR72):c.*2521A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885434	NM_182758.4(WDR72):c.*2587G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885368	NM_182758.4(WDR72):c.*2947A>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 884816	NM_182758.4(WDR72):c.363G>A (p.Met121Ile)	WDR72 (M121I)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GUncertain significance
Select item 884815	NM_182758.4(WDR72):c.592-8T>C	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884814	NM_182758.4(WDR72):c.737T>G (p.Leu246Arg)	WDR72 (L246R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 884813	NM_182758.4(WDR72):c.739C>T (p.Leu247=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884755	NM_182758.4(WDR72):c.1604G>A (p.Gly535Asp)	WDR72 (G535D)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884754	NM_182758.4(WDR72):c.1678G>A (p.Val560Met)	WDR72 (V560M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 884753	NM_182758.4(WDR72):c.1725A>T (p.Gly575=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884684	NM_182758.4(WDR72):c.*356T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884683	NM_182758.4(WDR72):c.*475T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884682	NM_182758.4(WDR72):c.*497C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884622	NM_182758.4(WDR72):c.*1172A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884561	NM_182758.4(WDR72):c.*1896T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884499	NM_182758.4(WDR72):c.*2620C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884441	NM_182758.4(WDR72):c.*3016G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884440	NM_182758.4(WDR72):c.*3128G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 884439	NM_182758.4(WDR72):c.*3225T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GBenign
Select item 631738	NM_182758.4(WDR72):c.153+1G>C	WDR72	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 522610	NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)	WDR72 (R896*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GPathogenic
Select item 522608	NM_182758.4(WDR72):c.1777A>G (p.Arg593Gly)	WDR72 (R593G)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 517616	NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	WDR72 (R30*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely pathogenic
Select item 316605	NM_182758.4(WDR72):c.93G>C (p.Thr31=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GConflicting classifications of pathogenicity
Select item 316604	NM_182758.4(WDR72):c.99G>T (p.Val33=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GUncertain significance
Select item 316603	NM_182758.4(WDR72):c.408C>T (p.Val136=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316602	NM_182758.4(WDR72):c.409C>G (p.Leu137Val)	WDR72 (L137V)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316601	NM_182758.4(WDR72):c.766C>G (p.Gln256Glu)	WDR72 (Q256E)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316599	NM_182758.4(WDR72):c.1111G>T (p.Val371Leu)	WDR72 (V371L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 316598	NM_182758.4(WDR72):c.1195A>C (p.Lys399Gln)	WDR72 (K399Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 316597	NM_182758.4(WDR72):c.1207G>A (p.Gly403Arg)	WDR72 (G403R)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GUncertain significance
Select item 316596	NM_182758.4(WDR72):c.1394C>G (p.Thr465Ser)	WDR72 (T465S)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316595	NM_182758.4(WDR72):c.1437A>C (p.Gln479His)	WDR72 (Q479H)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316594	NM_182758.4(WDR72):c.1569+7C>T	WDR72	Single nucleotide variant (intron variant)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316593	NM_182758.4(WDR72):c.1574G>A (p.Arg525Lys)	WDR72 (R525K)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GUncertain significance
Select item 316592	NM_182758.4(WDR72):c.1659C>T (p.Ala553=)	WDR72	Single nucleotide variant (synonymous variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance

<< First< Prev

Page of 2