"Ambry Genetics"[submitter] AND "SAE1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2599679	NM_005500.3(SAE1):c.31A>G (p.Ile11Val)	SAE1 (I11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279179	NM_005500.3(SAE1):c.80G>A (p.Gly27Glu)	SAE1 (G27E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157487	NM_005500.3(SAE1):c.167T>G (p.Ile56Ser)	SAE1 (I56S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261414	NM_005500.3(SAE1):c.251C>A (p.Thr84Asn)	SAE1 (T84N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508693	NM_005500.3(SAE1):c.266G>A (p.Arg89Gln)	SAE1 (R89Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157488	NM_005500.3(SAE1):c.271A>G (p.Arg91Gly)	SAE1 (R91G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157489	NM_005500.3(SAE1):c.332A>G (p.Asp111Gly)	SAE1 (D111G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386544	NM_005500.3(SAE1):c.349A>G (p.Lys117Glu)	SAE1 (K117E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316000	NM_005500.3(SAE1):c.383C>G (p.Ala128Gly)	SAE1 (A128G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316001	NM_005500.3(SAE1):c.538A>G (p.Lys180Glu)	SAE1 (K180E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315999	NM_005500.3(SAE1):c.681G>C (p.Glu227Asp)	SAE1 (E227D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3157490	NM_005500.3(SAE1):c.799G>C (p.Glu267Gln)	SAE1 (E267Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157491	NM_005500.3(SAE1):c.895A>G (p.Met299Val)	SAE1 (M299V)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3157492	NM_005500.3(SAE1):c.940A>G (p.Ile314Val)	SAE1 (I314V)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2240460	NM_005500.3(SAE1):c.980A>G (p.Asn327Ser)	SAE1 (N327S)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2534982	NM_005500.3(SAE1):c.997G>A (p.Gly333Ser)	SAE1 (G333S +1 more)	Single nucleotide variant (nonsense +3 more)	not specified	GUncertain significance