"Ambry Genetics"[submitter] AND "AMTN"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357282	NM_212557.4(AMTN):c.11C>T (p.Thr4Met)	AMTN (T4M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351379	NM_212557.4(AMTN):c.73G>A (p.Gly25Arg)	AMTN (G24R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293517	NM_212557.4(AMTN):c.233G>A (p.Gly78Asp)	AMTN (G77D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275519	NM_212557.4(AMTN):c.244C>A (p.His82Asn)	AMTN (H81N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531681	NM_212557.4(AMTN):c.251T>G (p.Leu84Trp)	AMTN (L83W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555226	NM_212557.4(AMTN):c.288C>A (p.His96Gln)	AMTN (H95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2570356	NM_212557.4(AMTN):c.292C>T (p.His98Tyr)	AMTN (H98Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333069	NM_212557.4(AMTN):c.463G>A (p.Ala155Thr)	AMTN (A154T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219597	NM_212557.4(AMTN):c.562G>T (p.Ala188Ser)	AMTN (A187S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394449	NM_212557.4(AMTN):c.578G>A (p.Ser193Asn)	AMTN (S192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537214	NM_212557.4(AMTN):c.581C>A (p.Thr194Lys)	AMTN (T194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance