"Ambry Genetics"[submitter] AND "TEX101"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539380	NM_001130011.3(TEX101):c.86A>T (p.Gln29Leu)	TEX101 (Q29L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278480	NM_001130011.3(TEX101):c.92G>A (p.Gly31Asp)	TEX101 (G31D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605280	NM_001130011.3(TEX101):c.209G>T (p.Gly70Val)	TEX101 (G88V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374171	NM_001130011.3(TEX101):c.323A>G (p.Tyr108Cys)	TEX101 (Y108C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326855	NM_001130011.3(TEX101):c.488G>A (p.Arg163Gln)	TEX101 (R181Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176253	NM_001130011.3(TEX101):c.566T>C (p.Ile189Thr)	TEX101 (I189T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250519	NM_001130011.3(TEX101):c.581T>G (p.Met194Arg)	TEX101 (M212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302792	NM_001130011.3(TEX101):c.634C>G (p.Gln212Glu)	TEX101 (Q212E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176254	NM_001130011.3(TEX101):c.673A>G (p.Thr225Ala)	TEX101 (T225A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272754	NM_001130011.3(TEX101):c.688C>T (p.Pro230Ser)	TEX101 (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335940	NM_001130011.3(TEX101):c.743T>C (p.Phe248Ser)	TEX101 (F266S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance