"Blueprint Genetics"[submitter] AND "ATM"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127341	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM (W57*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 487450	NM_000051.4(ATM):c.331+1G>A	ATM (S111N)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 636707	NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del)	ATM	Deletion (inframe_deletion)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 181974	NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	C11orf65, ATM (R2032K)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 636477	NM_000051.4(ATM):c.6348-9A>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140818	NM_000051.4(ATM):c.6997dup	C11orf65, ATM (T2333fs)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 636708	NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala)	ATM, C11orf65 (G2695A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

ClinVar