"PreventionGenetics, part of Exact Sciences"[submitter] AND "ATIC"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058388	NM_004044.7(ATIC):c.102C>T (p.Ser34=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder	GLikely benign
Select item 772858	NM_004044.7(ATIC):c.224-8T>A	ATIC	Single nucleotide variant (intron variant)	ATIC-related disorder +1 more	GBenign
Select item 801893	NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)	ATIC (T116S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 729605	NM_004044.7(ATIC):c.435G>A (p.Val145=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder +1 more	GLikely benign
Select item 747586	NM_004044.7(ATIC):c.595A>G (p.Lys199Glu)	ATIC (K199E)	Single nucleotide variant (missense variant)	ATIC-related disorder +1 more	GBenign/Likely benign
Select item 730029	NM_004044.7(ATIC):c.1014T>C (p.Ser338=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder +1 more	GLikely benign
Select item 3053406	NM_004044.7(ATIC):c.1542A>G (p.Glu514=)	ATIC	Single nucleotide variant (synonymous variant)	ATIC-related disorder	GLikely benign
Select item 722929	NM_004044.7(ATIC):c.1597G>A (p.Glu533Lys)	ATIC (E533K)	Single nucleotide variant (missense variant)	ATIC-related disorder +1 more	GLikely benign
Select item 2736244	NM_004044.7(ATIC):c.1715T>C (p.Ile572Thr)	ATIC (I572T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1618073	NM_212482.4(FN1):c.7295G>C (p.Ser2432Thr)	ATIC, FN1 (S2131T +16 more)	Single nucleotide variant (missense variant)	FN1-related disorder +1 more	GBenign/Likely benign