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

	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 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 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 1317439	NM_016519.6(AMBN):c.715C>T (p.Pro239Ser)	AMBN (P239S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275989	NM_016519.6(AMBN):c.1061T>C (p.Leu354Pro)	AMBN (L354P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1315999	NM_016519.6(AMBN):c.1325G>A (p.Trp442Ter)	AMBN (W442*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3340822	NM_016519.6(AMBN):c.1340C>T (p.Pro447Leu)	AMBN (P447L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar