ClinVar for MedGen (Select 97993) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1192504	NM_031889.3(ENAM):c.588+1del	ENAM	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 1174915	NM_000494.4(COL17A1):c.1179del (p.Ala394fs)	COL17A1 (A394fs)	Deletion (frameshift variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GLikely pathogenic
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 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 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 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 4238	NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	ENAM (P204fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 4236	NM_031889.3(ENAM):c.534+1G>A	ENAM	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta - hypoplastic autosomal dominant - local	GPathogenic