"Genome-Nilou Lab"[submitter] AND "TONSL"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1342241	NM_013432.5(TONSL):c.2852+24C>T	TONSL, TONSL-AS1	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167020	NM_013432.5(TONSL):c.2496C>T (p.Ala832=)	TONSL, TONSL-AS1	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167021	NM_013432.5(TONSL):c.2141C>T (p.Ala714Val)	TONSL, TONSL-AS1 (A714V)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1342242	NM_013432.5(TONSL):c.1653+40T>C	TONSL, TONSL-AS1	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167022	NM_013432.5(TONSL):c.1477G>A (p.Gly493Ser)	TONSL (G493S)	Single nucleotide variant (missense variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167023	NM_013432.5(TONSL):c.1368A>G (p.Leu456=)	TONSL	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1342244	NM_013432.5(TONSL):c.1291-44T>C	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1342245	NM_013432.5(TONSL):c.1290+35G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167024	NM_013432.5(TONSL):c.1263C>T (p.Ala421=)	TONSL	Single nucleotide variant (synonymous variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1167011	NM_013432.5(TONSL):c.865+15G>C	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1166861	NM_013432.5(TONSL):c.578+18C>T	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign
Select item 1342246	NM_013432.5(TONSL):c.448+40G>A	TONSL	Single nucleotide variant (intron variant)	Sponastrime dysplasia +1 more	GBenign