"Genome-Nilou Lab"[submitter] AND "ATIC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192365	NM_004044.7(ATIC):c.-218A>G	ATIC	Single nucleotide variant	not provided +1 more	GBenign
Select item 1192366	NM_004044.7(ATIC):c.-59T>G	ATIC	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1192367	NM_004044.7(ATIC):c.147-111A>T	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 801893	NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)	ATIC (T116S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1192368	NM_004044.7(ATIC):c.380-19A>C	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192369	NM_004044.7(ATIC):c.1098+60C>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192370	NM_004044.7(ATIC):c.1228-30A>G	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1192371	NM_004044.7(ATIC):c.1503+48A>T	ATIC	Single nucleotide variant (intron variant)	AICA-ribosiduria +1 more	GBenign
Select item 1169959	NM_212482.4(FN1):c.7161T>C (p.Tyr2387=)	ATIC, FN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

ClinVar