ClinVar for Gene (Select 128772354) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694625	NC_000011.10:g.108151767_108183227del	ATM, LOC128772354 +2 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic

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