"GeneDx"[submitter] AND "ENAM"[gene] - ClinVar

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Items: 22

	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 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	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 1287049	NM_031889.3(ENAM):c.55-300A>C	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 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 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 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 4238	NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	ENAM (P204fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 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 261984	NM_031889.3(ENAM):c.1943T>C (p.Ile648Thr)	ENAM (I648T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 349502	NM_031889.3(ENAM):c.2241C>T (p.Tyr747=)	ENAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261985	NM_031889.3(ENAM):c.2288G>A (p.Arg763Gln)	ENAM (R763Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 418735	NM_031889.3(ENAM):c.2763del (p.Asp921fs)	ENAM (D703fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 349508	NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser)	ENAM (P1093S +1 more)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta +1 more	GUncertain significance
Select item 349513	NM_031889.3(ENAM):c.*264C>G	ENAM	Single nucleotide variant (3 prime UTR variant)	Amelogenesis imperfecta +1 more	GBenign

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Items: 22