ENAM[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 228

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	PARM1-AS1, PCAT4 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 57860	GRCh38/hg38 4q13.3(chr4:70072741-71612174)x3	AMBN, AMTN +30 more	Copy number gain	See cases	GUncertain significance
Select item 155363	GRCh38/hg38 4q13.3(chr4:70204468-71204531)x3	AMBN, AMTN +26 more	Copy number gain	See cases	GUncertain significance
Select item 349488	NM_031889.3(ENAM):c.-218A>G	ENAM	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349489	NM_031889.3(ENAM):c.-123G>A	ENAM	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 349490	NM_031889.3(ENAM):c.-112A>G	ENAM	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349491	NM_031889.3(ENAM):c.-111A>T	ENAM	Single nucleotide variant (5 prime UTR 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 906523	NM_031889.3(ENAM):c.-60-4T>A	ENAM	Single nucleotide variant (intron 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 349492	NM_031889.3(ENAM):c.-25G>A	ENAM	Single nucleotide variant (5 prime UTR variant)	Amelogenesis imperfecta	GUncertain significance
Select item 2478638	NM_031889.3(ENAM):c.18C>G (p.Cys6Trp)	ENAM (C6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287049	NM_031889.3(ENAM):c.55-300A>C	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
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 374930	NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	ENAM (L31R)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic/Likely pathogenic
Select item 2445232	NM_031889.3(ENAM):c.101T>C (p.Leu34Pro)	ENAM (L34P)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GUncertain significance
Select item 2628824	NM_031889.3(ENAM):c.107del (p.Asn36fs)	ENAM (N36fs)	Deletion (frameshift variant)	ENAM-related disorder	GLikely pathogenic
Select item 2467505	NM_031889.3(ENAM):c.112G>T (p.Val38Phe)	ENAM (V38F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 517662	NM_031889.3(ENAM):c.123+2T>G	ENAM	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic
Select item 2217605	NM_031889.3(ENAM):c.142C>T (p.Pro48Ser)	ENAM (P48S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088819	NM_031889.3(ENAM):c.143C>G (p.Pro48Arg)	ENAM (P48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4237	NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)	ENAM (K53*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic
Select item 1265615	NM_031889.3(ENAM):c.169-65G>A	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
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 2336694	NM_031889.3(ENAM):c.202G>A (p.Gly68Ser)	ENAM (G68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2557678	NM_031889.3(ENAM):c.214G>A (p.Ala72Thr)	ENAM (A72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088821	NM_031889.3(ENAM):c.218A>G (p.His73Arg)	ENAM (H73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3058802	NM_031889.3(ENAM):c.234T>C (p.Phe78=)	ENAM	Single nucleotide variant (synonymous variant)	ENAM-related disorder	GLikely benign
Select item 2469720	NM_031889.3(ENAM):c.241G>A (p.Gly81Ser)	ENAM (G81S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737875	NM_031889.3(ENAM):c.251A>G (p.Gln84Arg)	ENAM (Q84R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2333163	NM_031889.3(ENAM):c.298A>G (p.Asn100Asp)	ENAM (N100D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2266613	NM_031889.3(ENAM):c.335G>A (p.Arg112His)	ENAM (R112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440040	NM_031889.3(ENAM):c.372_382del (p.Lys124fs)	ENAM (K124fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3275404	NM_031889.3(ENAM):c.397C>T (p.Pro133Ser)	ENAM (P133S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2228084	NM_031889.3(ENAM):c.506A>G (p.Tyr169Cys)	ENAM (Y169C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4236	NM_031889.3(ENAM):c.534+1G>A	ENAM	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic
Select item 1236865	NM_031889.3(ENAM):c.534+63A>G	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248949	NM_031889.3(ENAM):c.534+133T>C	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277049	NM_031889.3(ENAM):c.534+161_534+162insGAGA	ENAM	Insertion (intron variant)	not provided	GBenign
Select item 1271260	NM_031889.3(ENAM):c.535-311G>T	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 427132	NM_031889.3(ENAM):c.588+1dup	ENAM	Duplication (splice donor variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local +1 more	GPathogenic/Likely pathogenic
Select item 1192504	NM_031889.3(ENAM):c.588+1del	ENAM	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 349493	NM_031889.3(ENAM):c.584G>T (p.Gly195Val)	ENAM (G195V)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta	GUncertain significance
Select item 2311525	NM_031889.3(ENAM):c.586G>T (p.Gly196Trp)	ENAM (G196W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3088828	NM_031889.3(ENAM):c.587G>T (p.Gly196Val)	ENAM (G196V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 1278142	NM_031889.3(ENAM):c.588+226A>C	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243996	NM_031889.3(ENAM):c.589-265A>G	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2595630	NM_031889.3(ENAM):c.631C>T (p.Arg211Cys)	ENAM (R211C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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 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 2445233	NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)	ENAM (Q222* +1 more)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic
Select item 3088829	NM_031889.3(ENAM):c.766C>A (p.Pro256Thr)	ENAM (P256T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613290	NM_031889.3(ENAM):c.791G>A (p.Gly264Glu)	ENAM (G46E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349494	NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)	ENAM (P291S +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349495	NM_031889.3(ENAM):c.888C>T (p.Asn296=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 349496	NM_031889.3(ENAM):c.899A>G (p.Gln300Arg)	ENAM (Q300R +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 2690595	NM_031889.3(ENAM):c.935_944del (p.Ser312fs)	ENAM (S312fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2278730	NM_031889.3(ENAM):c.935G>C (p.Ser312Thr)	ENAM (S312T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3029958	NM_031889.3(ENAM):c.1025G>A (p.Gly342Glu)	ENAM (G124E +1 more)	Single nucleotide variant (missense variant)	ENAM-related disorder	GUncertain significance
Select item 3088817	NM_031889.3(ENAM):c.1032A>T (p.Arg344Ser)	ENAM (R126S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2600243	NM_031889.3(ENAM):c.1078C>T (p.Arg360Trp)	ENAM (R142W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349497	NM_031889.3(ENAM):c.1080G>A (p.Arg360=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta	GUncertain significance
Select item 2602040	NM_031889.3(ENAM):c.1083G>C (p.Trp361Cys)	ENAM (W143C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349498	NM_031889.3(ENAM):c.1103G>A (p.Arg368His)	ENAM (R368H +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta	GUncertain significance
Select item 3088818	NM_031889.3(ENAM):c.1132G>A (p.Val378Ile)	ENAM (V160I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 775985	NM_031889.3(ENAM):c.1165G>A (p.Gly389Ser)	ENAM (G389S +1 more)	Single nucleotide variant (missense 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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2320078	NM_031889.3(ENAM):c.1222C>T (p.Pro408Ser)	ENAM (P190S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4238	NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	ENAM (P204fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 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 2290979	NM_031889.3(ENAM):c.1361C>T (p.Pro454Leu)	ENAM (P454L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455660	NM_031889.3(ENAM):c.1379A>G (p.Asn460Ser)	ENAM (N460S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275403	NM_031889.3(ENAM):c.1389G>T (p.Gln463His)	ENAM (Q245H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723981	NM_031889.3(ENAM):c.1389G>A (p.Gln463=)	ENAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2622637	NM_031889.3(ENAM):c.1562T>C (p.Val521Ala)	ENAM (V303A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3364512	NM_031889.3(ENAM):c.1587T>G (p.Tyr529Ter)	ENAM (Y311* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2335197	NM_031889.3(ENAM):c.1639G>T (p.Val547Leu)	ENAM (V547L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 +1 more	GUncertain significance
Select item 2285999	NM_031889.3(ENAM):c.1717T>A (p.Ser573Thr)	ENAM (S355T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 349499	NM_031889.3(ENAM):c.1726T>C (p.Phe576Leu)	ENAM (F576L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3275408	NM_031889.3(ENAM):c.1753G>C (p.Glu585Gln)	ENAM (E367Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281904	NM_031889.3(ENAM):c.1757A>G (p.His586Arg)	ENAM (H368R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3339213	NM_031889.3(ENAM):c.1776T>A (p.His592Gln)	ENAM (H374Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3