"PreventionGenetics, part of Exact Sciences"[submitter] AND "AMER1"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720216	NM_152424.4(AMER1):c.3408G>A (p.Ter1136=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 764309	NM_152424.4(AMER1):c.2995A>G (p.Met999Val)	AMER1 (M999V)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 2637136	NM_152424.4(AMER1):c.2891G>C (p.Cys964Ser)	AMER1 (C964S)	Single nucleotide variant (missense variant)	AMER1-related condition	GUncertain significance
Select item 3050811	NM_152424.4(AMER1):c.2567G>A (p.Ser856Asn)	AMER1 (S856N)	Single nucleotide variant (missense variant)	AMER1-related condition	GUncertain significance
Select item 718682	NM_152424.4(AMER1):c.2520C>T (p.Ala840=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +1 more	GBenign
Select item 2170792	NM_152424.4(AMER1):c.2248C>T (p.Pro750Ser)	AMER1 (P750S)	Single nucleotide variant (missense variant)	AMER1-related condition +1 more	GBenign/Likely benign
Select item 2633729	NM_152424.4(AMER1):c.1829C>G (p.Ala610Gly)	AMER1 (A610G)	Single nucleotide variant (missense variant)	AMER1-related condition	GUncertain significance
Select item 1206234	NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln)	AMER1 (R601Q)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 2633736	NM_152424.4(AMER1):c.1703TGT[1] (p.Leu569del)	AMER1 (L569del)	Microsatellite (inframe_deletion)	AMER1-related condition	GUncertain significance
Select item 713850	NM_152424.4(AMER1):c.1611C>T (p.Asp537=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +1 more	GBenign/Likely benign
Select item 722641	NM_152424.4(AMER1):c.1092C>T (p.Thr364=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +1 more	GBenign/Likely benign
Select item 10708	NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)	AMER1 (R358*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3060533	NM_152424.4(AMER1):c.893T>A (p.Val298Glu)	AMER1 (V298E)	Single nucleotide variant (missense variant)	AMER1-related condition	GUncertain significance
Select item 784730	NM_152424.4(AMER1):c.401A>C (p.His134Pro)	AMER1 (H134P)	Single nucleotide variant (missense variant)	AMER1-related condition +2 more	GBenign/Likely benign
Select item 1936730	NM_152424.4(AMER1):c.339A>G (p.Gly113=)	AMER1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1599603	NM_152424.4(AMER1):c.315C>T (p.Gly105=)	AMER1	Single nucleotide variant (synonymous variant)	AMER1-related condition +1 more	GBenign/Likely benign
Select item 1972490	NM_152424.4(AMER1):c.205C>A (p.Leu69Met)	AMER1 (L69M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity