"Center of Medical Genetics and Primary Health Care"[submitter] AND "A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802741	NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)	ATM (Q414K)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 652229	NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)	ATM (S474N)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +1 more	GUncertain significance
Select item 127342	NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	ATM (F582L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 233576	NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)	ATM (Y1124F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 689657	NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)	ATM, C11orf65 (N2501K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance

ClinVar