"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 481065	NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)	ATM (R692L)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 560352	NM_000051.4(ATM):c.2441del (p.Asp814fs)	ATM (D814fs)	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome	GPathogenic
Select item 560351	NM_000051.4(ATM):c.5696dup (p.Cys1899fs)	ATM (C1899fs)	Duplication (frameshift variant)	Neoplasm	GPathogenic

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