"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ENAM"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4238	NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	ENAM (P204fs +1 more)	Insertion (frameshift variant)	ENAM-related condition +1 more	GPathogenic/Likely pathogenic
Select item 737651	NM_031889.3(ENAM):c.2205T>C (p.Ser735=)	ENAM	Single nucleotide variant (synonymous variant)	Amelogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 418735	NM_031889.3(ENAM):c.2763del (p.Asp921fs)	ENAM (D703fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 904266	NM_031889.3(ENAM):c.2994G>T (p.Leu998=)	ENAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904267	NM_031889.3(ENAM):c.3072T>C (p.Pro1024=)	ENAM	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic

ClinVar