ClinVar for MedGen (Select 898597) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501302	NM_016519.6(AMBN):c.76G>A (p.Ala26Thr)	AMBN (A26T)	Single nucleotide variant (missense variant)	Amelogenesis imperfecta type 1F	GLikely pathogenic
Select item 2501301	NM_016519.6(AMBN):c.539dup (p.Val181fs)	AMBN (V181fs)	Duplication (frameshift variant)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 2445418	NM_016519.6(AMBN):c.577G>T (p.Gly193Ter)	AMBN (G193*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 2445235	NM_016519.6(AMBN):c.15+1G>A	AMBN	Single nucleotide variant (splice donor variant)	Amelogenesis imperfecta type 1F	GUncertain significance
Select item 2444856	NM_016519.6(AMBN):c.571-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2233469	NM_016519.6(AMBN):c.295T>C (p.Tyr99His)	AMBN (Y99H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1702585	NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	AMBN (S70*)	Single nucleotide variant (nonsense)	Amelogenesis imperfecta type 1F +1 more	GUncertain significance
Select item 780465	NM_016519.6(AMBN):c.882C>A (p.His294Gln)	AMBN (H294Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 372171	NM_016519.6(AMBN):c.532-1G>C	AMBN	Single nucleotide variant (splice acceptor variant)	Amelogenesis imperfecta type 1F	GPathogenic
Select item 183689	NM_016519.6(AMBN):c.294+140_531+479del	AMBN	Deletion (splice acceptor variant +1 more)	Amelogenesis imperfecta type 1F	GPathogenic