ClinVar for MedGen (Select 1668377) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3041	NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)	ATM (Q1361*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 3040	NM_000051.4(ATM):c.7251_7253dup (p.Lys2418_Arg2419insLys)	ATM, C11orf65	Duplication (intron variant)	Mantle cell lymphoma	GPathogenic
Select item 3039	NM_000051.4(ATM):c.7268A>G (p.Glu2423Gly)	ATM, C11orf65 (E2423G)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance

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