"Ambry Genetics"[submitter] AND "LOC126861229"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2379958	NM_001013251.3(SLC3A2):c.79G>T (p.Ala27Ser)	LOC126861229, SLC3A2 (A27S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512402	NM_001013251.3(SLC3A2):c.112G>C (p.Glu38Gln)	LOC126861229, SLC3A2 (E140Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493670	NM_001013251.3(SLC3A2):c.137A>G (p.Lys46Arg)	LOC126861229, SLC3A2 (K147R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619612	NM_001013251.3(SLC3A2):c.227G>T (p.Gly76Val)	LOC126861229, SLC3A2 (G178V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270487	NM_001013251.3(SLC3A2):c.293G>T (p.Gly98Val)	LOC126861229, SLC3A2 (G98V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164750	NM_001013251.3(SLC3A2):c.425G>T (p.Gly142Val)	LOC126861229, SLC3A2 (G181V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383537	NM_001013251.3(SLC3A2):c.481G>T (p.Gly161Cys)	LOC126861229, SLC3A2 (G262C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360036	NM_001013251.3(SLC3A2):c.487A>G (p.Ile163Val)	LOC126861229, SLC3A2 (I163V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221263	NM_001013251.3(SLC3A2):c.505G>A (p.Asp169Asn)	LOC126861229, SLC3A2 (D270N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance