ClinVar for Gene (Select 10117) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062769	GRCh37/hg19 4q13.3(chr4:71132998-72479262)x3	AMBN, AMTN +13 more	Copy number gain	not specified	GUncertain significance
Select item 3058802	NM_031889.3(ENAM):c.234T>C (p.Phe78=)	ENAM	Single nucleotide variant (synonymous variant)	ENAM-related condition	GLikely benign
Select item 3050043	NM_031889.3(ENAM):c.3210C>T (p.Thr1070=)	ENAM	Single nucleotide variant (synonymous variant)	ENAM-related condition	GLikely benign
Select item 3029958	NM_031889.3(ENAM):c.1025G>A (p.Gly342Glu)	ENAM (G124E +1 more)	Single nucleotide variant (missense variant)	ENAM-related condition	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
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 2685972	GRCh37/hg19 4q13.3(chr4:71388666-72250823)x3	GRSF1, AMBN +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2685109	GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1	ADGRL3, AMBN +52 more	Copy number loss	not provided	GPathogenic
Select item 2683737	GRCh37/hg19 4q13.3(chr4:71271311-71502766)x1	AMBN, AMTN +4 more	Copy number loss	See cases	GUncertain significance
Select item 2635764	NM_031889.3(ENAM):c.2169C>G (p.Ser723Arg)	ENAM (S505R +1 more)	Single nucleotide variant (missense variant)	ENAM-related condition	GUncertain significance
Select item 2628824	NM_031889.3(ENAM):c.107del (p.Asn36fs)	ENAM (N36fs)	Deletion (frameshift variant)	ENAM-related condition	GLikely pathogenic
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 2620132	NM_031889.3(ENAM):c.2590C>T (p.His864Tyr)	ENAM (H646Y +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 2605995	NM_031889.3(ENAM):c.2323C>G (p.Gln775Glu)	ENAM (Q557E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604416	NM_031889.3(ENAM):c.1874A>G (p.Asp625Gly)	ENAM (D625G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602902	NM_031889.3(ENAM):c.2356A>G (p.Ile786Val)	ENAM (I568V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2564102	NM_031889.3(ENAM):c.3122A>G (p.Glu1041Gly)	ENAM (E1041G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2552973	NM_031889.3(ENAM):c.2963A>G (p.Asn988Ser)	ENAM (N988S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2537089	NM_031889.3(ENAM):c.2081A>G (p.Asn694Ser)	ENAM (N694S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522615	NM_031889.3(ENAM):c.2173G>T (p.Asp725Tyr)	ENAM (D507Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519411	NM_031889.3(ENAM):c.3316A>C (p.Lys1106Gln)	ENAM (K1106Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2474312	NM_031889.3(ENAM):c.2484T>A (p.Asn828Lys)	ENAM (N610K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471316	NM_031889.3(ENAM):c.3124A>C (p.Ser1042Arg)	ENAM (S824R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2467505	NM_031889.3(ENAM):c.112G>T (p.Val38Phe)	ENAM (V38F)	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 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 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 2440040	NM_031889.3(ENAM):c.372_382del (p.Lys124fs)	ENAM (K124fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2392359	NM_031889.3(ENAM):c.2426A>G (p.Tyr809Cys)	ENAM (Y591C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375793	NM_031889.3(ENAM):c.3101A>T (p.Gln1034Leu)	ENAM (Q816L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347783	NM_031889.3(ENAM):c.2078C>T (p.Ser693Leu)	ENAM (S693L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340076	NM_031889.3(ENAM):c.3022A>G (p.Asn1008Asp)	ENAM (N1008D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2333163	NM_031889.3(ENAM):c.298A>G (p.Asn100Asp)	ENAM (N100D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 2266613	NM_031889.3(ENAM):c.335G>A (p.Arg112His)	ENAM (R112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2262296	NM_031889.3(ENAM):c.3068C>T (p.Thr1023Ile)	ENAM (T805I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257760	NM_031889.3(ENAM):c.2540C>T (p.Ser847Phe)	ENAM (S847F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256328	NM_031889.3(ENAM):c.3054G>C (p.Gln1018His)	ENAM (Q1018H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2222899	NM_031889.3(ENAM):c.2136G>T (p.Glu712Asp)	ENAM (E494D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2211763	NM_031889.3(ENAM):c.2575G>C (p.Gly859Arg)	ENAM (G641R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205384	NM_031889.3(ENAM):c.1934A>G (p.Gln645Arg)	ENAM (Q645R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, FGF5 +330 more	Deletion	See cases	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1287049	NM_031889.3(ENAM):c.55-300A>C	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278142	NM_031889.3(ENAM):c.588+226A>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 1265615	NM_031889.3(ENAM):c.169-65G>A	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 1243996	NM_031889.3(ENAM):c.589-265A>G	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236865	NM_031889.3(ENAM):c.534+63A>G	ENAM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192504	NM_031889.3(ENAM):c.588+1del	ENAM	Deletion (splice donor variant)	ENAM-related condition	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1050433	NM_031889.3(ENAM):c.2226G>C (p.Glu742Asp)	ENAM (E524D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1031471	NM_031889.3(ENAM):c.2315C>A (p.Ala772Asp)	ENAM (A772D +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	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

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