AMN1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3116095	NM_001113402.2(AMN1):c.653A>C (p.Tyr218Ser)	AMN1 (Y200S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554937	NM_001113402.2(AMN1):c.650C>T (p.Thr217Ile)	AMN1 (T217I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224360	NM_001113402.2(AMN1):c.646C>T (p.Leu216Phe)	AMN1 (L171F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116086	NM_001113402.2(AMN1):c.617A>G (p.Asn206Ser)	AMN1 (N188S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293074	NM_001113402.2(AMN1):c.613G>A (p.Val205Ile)	AMN1 (V187I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550623	NM_001113402.2(AMN1):c.601A>G (p.Met201Val)	AMN1 (M156V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293085	NM_001113402.2(AMN1):c.571C>A (p.Pro191Thr)	AMN1 (P191T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116081	NM_001113402.2(AMN1):c.457A>C (p.Ser153Arg)	AMN1 (S153R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116076	NM_001113402.2(AMN1):c.433A>G (p.Ile145Val)	AMN1 (I145V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642831	NM_001113402.2(AMN1):c.336A>C (p.Ser112=)	AMN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3116072	NM_001113402.2(AMN1):c.325G>T (p.Ala109Ser)	AMN1 (A109S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529414	NM_001113402.2(AMN1):c.236T>A (p.Leu79Gln)	AMN1 (L61Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance