ClinVar for MedGen (Select 240) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076032	NM_182758.4(WDR72):c.2019dup (p.Trp674fs)	WDR72 (W674fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GLikely pathogenic
Select item 2578329	NM_000228.3(LAMB3):c.3463_3475del (p.Glu1155fs)	LAMB3 (E1155fs)	Deletion (frameshift variant)	Amelogenesis imperfecta	GPathogenic
Select item 2578328	NM_000494.4(COL17A1):c.1700G>A (p.Gly567Glu)	COL17A1 (G567E)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GPathogenic
Select item 2578327	NM_000494.4(COL17A1):c.3598G>T (p.Asp1200Tyr)	COL17A1 (D1200Y)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GPathogenic
Select item 2573131	NM_152222.2(RELT):c.260A>T (p.Asp87Val)	RELT (D87V)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GLikely pathogenic
Select item 2573130	NM_000494.4(COL17A1):c.4156+2dup	COL17A1	Duplication (splice donor variant)	Amelogenesis imperfecta	GPathogenic
Select item 2573118	NM_152222.2(RELT):c.521T>G (p.Leu174Arg)	RELT (L174R)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GLikely pathogenic
Select item 1895442	NM_182758.4(WDR72):c.1287_1289del (p.Ile430del)	WDR72 (I430del)	Deletion (inframe_deletion +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1895441	NM_182758.4(WDR72):c.2332dup (p.Met778fs)	WDR72 (M778fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1879842	NM_182758.4(WDR72):c.1766-2423_1962+1074del	WDR72	Deletion (splice acceptor variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1879841	NM_182758.4(WDR72):c.2680_2699delinsACTATAGTT (p.Ser894fs)	WDR72 (S894fs)	Indel (non-coding transcript variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1694478	NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)	LTBP3 (C1075Y +2 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GLikely pathogenic
Select item 1327589	NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)	KLK4 (S57*)	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta	GPathogenic
Select item 1327588	NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)	KLK4 (C118R +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 1326287	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	GPR68 (V27fs)	Indel (frameshift variant)	Amelogenesis imperfecta	GPathogenic
Select item 1326286	NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter)	SLC24A4 (R141* +1 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta	GPathogenic
Select item 1027406	NM_033068.3(ACP4):c.419C>T (p.Pro140Leu)	ACP4 (P140L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 1027405	NM_033068.3(ACP4):c.350A>G (p.Gln117Arg)	ACP4 (Q117R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1027404	NM_033068.3(ACP4):c.262C>A (p.Arg88Ser)	ACP4 (R88S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 1012267	NM_031889.3(ENAM):c.-61+1G>A	ENAM	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta	GPathogenic
Select item 997829	NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)	SP6 (A273M)	Indel (missense variant)	Amelogenesis imperfecta, IIa 1K +1 more	GPathogenic
Select item 907673	NM_031889.3(ENAM):c.*1079G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907672	NM_031889.3(ENAM):c.*1078C>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907671	NM_031889.3(ENAM):c.*986G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907670	NM_031889.3(ENAM):c.*936T>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GLikely benign
Select item 907669	NM_031889.3(ENAM):c.*884A>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907668	NM_031889.3(ENAM):c.*680T>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907594	NM_031889.3(ENAM):c.2736C>T (p.Asp912=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907593	NM_031889.3(ENAM):c.2397G>T (p.Arg799Ser)	ENAM (R581S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 907592	NM_031889.3(ENAM):c.2369C>A (p.Ala790Glu)	ENAM (A790E +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907540	NM_031889.3(ENAM):c.632G>A (p.Arg211His)	ENAM (R211H)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 907539	NM_031889.3(ENAM):c.588G>C (p.Gly196=)	ENAM	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 907538	NM_031889.3(ENAM):c.549A>G (p.Pro183=)	ENAM	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 907537	NM_031889.3(ENAM):c.539T>C (p.Leu180Ser)	ENAM (L180S)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 907536	NM_031889.3(ENAM):c.481C>G (p.Pro161Ala)	ENAM (P161A)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907535	NM_031889.3(ENAM):c.332A>C (p.Lys111Thr)	ENAM (K111T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 907534	NM_031889.3(ENAM):c.263A>G (p.Gln88Arg)	ENAM (Q88R)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906644	NM_031889.3(ENAM):c.*653T>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906643	NM_031889.3(ENAM):c.*518A>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906642	NM_031889.3(ENAM):c.*459T>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906576	NM_031889.3(ENAM):c.2171C>T (p.Pro724Leu)	ENAM (P506L +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GBenign
Select item 906575	NM_031889.3(ENAM):c.2153A>C (p.Glu718Ala)	ENAM (E500A +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906574	NM_031889.3(ENAM):c.1893G>A (p.Gly631=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906526	NM_031889.3(ENAM):c.233T>C (p.Phe78Ser)	ENAM (F78S)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906525	NM_031889.3(ENAM):c.76A>T (p.Ile26Phe)	ENAM (I26F)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906524	NM_031889.3(ENAM):c.-45A>G	ENAM	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 906523	NM_031889.3(ENAM):c.-60-4T>A	ENAM	Single nucleotide variant (intron variant)	Amelogenesis imperfecta	GUncertain significance
Select item 905137	NM_031889.3(ENAM):c.*1797G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 905136	NM_031889.3(ENAM):c.*1717G>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 905135	NM_031889.3(ENAM):c.*1565A>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 905060	NM_031889.3(ENAM):c.*261T>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 905059	NM_031889.3(ENAM):c.*256G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GLikely benign
Select item 905058	NM_031889.3(ENAM):c.*222A>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904991	NM_031889.3(ENAM):c.1827G>A (p.Arg609=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904990	NM_031889.3(ENAM):c.1656C>G (p.Ile552Met)	ENAM (I334M +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904989	NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser)	ENAM (N430S +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904988	NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg)	ENAM (P422R +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904338	NM_031889.3(ENAM):c.*1528C>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904337	NM_031889.3(ENAM):c.*1500G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GLikely benign
Select item 904336	NM_031889.3(ENAM):c.*1374A>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904335	NM_031889.3(ENAM):c.*1143G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904334	NM_031889.3(ENAM):c.*1115C>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904268	NM_031889.3(ENAM):c.3148T>C (p.Ser1050Pro)	ENAM (S1050P +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904267	NM_031889.3(ENAM):c.3072T>C (p.Pro1024=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 904266	NM_031889.3(ENAM):c.2994G>T (p.Leu998=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 904265	NM_031889.3(ENAM):c.2979T>C (p.Asp993=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904264	NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys)	ENAM (R721K +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904208	NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser)	ENAM (G140S +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904207	NM_031889.3(ENAM):c.950G>A (p.Arg317His)	ENAM (R317H +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 904206	NM_031889.3(ENAM):c.637C>T (p.Pro213Ser)	ENAM (P213S)	Single nucleotide variant (5 prime UTR variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 870151	NM_017637.6(BNC2):c.2860G>A (p.Ala954Thr)	BNC2, BNC2-AS1 (A859T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta	GBenign
Select item 870150	NM_016139.4(CHCHD2):c.418G>A (p.Val140Met)	CHCHD2 (V140M)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GBenign
Select item 870149	NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)	PSPH (N133S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 777590	NM_031889.3(ENAM):c.3320G>A (p.Ser1107Asn)	ENAM (S889N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 775986	NM_031889.3(ENAM):c.1926C>T (p.Thr642=)	ENAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 775985	NM_031889.3(ENAM):c.1165G>A (p.Gly389Ser)	ENAM (G389S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 737651	NM_031889.3(ENAM):c.2205T>C (p.Ser735=)	ENAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 716857	NM_031889.3(ENAM):c.177G>T (p.Arg59=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta +1 more	GBenign/Likely benign
Select item 711122	NM_031889.3(ENAM):c.1181A>T (p.Tyr394Phe)	ENAM (Y394F +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 709767	NM_031889.3(ENAM):c.1396G>A (p.Val466Ile)	ENAM (V466I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632447	NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter)	ENAM (Y896* +1 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta	GUncertain significance
Select item 617639	NM_001142.2(AMELX):c.143del (p.Pro48fs)	ARHGAP6, AMELX (P32fs +2 more)	Deletion (frameshift variant +1 more)	Amelogenesis imperfecta	GPathogenic
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 374862	NM_033068.3(ACP4):c.713C>T (p.Ser238Leu)	ACP4 (S238L)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 373912	NM_005220.3(DLX3):c.574dup (p.Glu192fs)	DLX3 (E192fs)	Duplication (frameshift variant)	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	GLikely pathogenic
Select item 349528	NM_031889.3(ENAM):c.*1829G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349527	NM_031889.3(ENAM):c.*1799T>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349526	NM_031889.3(ENAM):c.*1635G>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349525	NM_031889.3(ENAM):c.*1512G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349524	NM_031889.3(ENAM):c.*1241C>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349523	NM_031889.3(ENAM):c.*1211T>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349521	NM_031889.3(ENAM):c.*985C>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349520	NM_031889.3(ENAM):c.*687G>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349519	NM_031889.3(ENAM):c.*605T>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349518	NM_031889.3(ENAM):c.*584A>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349516	NM_031889.3(ENAM):c.*422G>T	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349514	NM_031889.3(ENAM):c.*342T>C	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GBenign
Select item 349513	NM_031889.3(ENAM):c.*264C>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta +1 more	GBenign
Select item 349512	NM_031889.3(ENAM):c.*156G>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349511	NM_031889.3(ENAM):c.*69T>A	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance

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