"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1178525	NM_000051.4(ATM):c.72+37_72+38del	ATM	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign
Select item 1225892	NM_000051.4(ATM):c.331+69dup	ATM	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1257474	NM_000051.4(ATM):c.663-144del	ATM	Deletion (intron variant)	not provided +1 more	GBenign
Select item 181847	NM_000051.4(ATM):c.1236-3dup	ATM	Duplication (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 183771	NM_000051.4(ATM):c.1236-3del	ATM	Deletion (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1177614	NM_000051.4(ATM):c.2377-56A>G	ATM	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign
Select item 1252631	NM_000051.4(ATM):c.2467-123T>A	ATM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1232570	NM_000051.4(ATM):c.2839-90G>T	ATM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1249532	NM_000051.4(ATM):c.2922-8dup	ATM	Duplication (intron variant)	not specified +1 more	GBenign
Select item 490504	NM_000051.4(ATM):c.2922-8del	ATM	Deletion (intron variant)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 439418	NM_000051.4(ATM):c.3078-77C>T	ATM	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 181858	NM_000051.4(ATM):c.3403-13dup	ATM	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 136441	NM_000051.4(ATM):c.3403-15T>A	ATM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 1252304	NM_000051.4(ATM):c.6573-42del	ATM, C11orf65	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1203618	NM_000051.4(ATM):c.6573-43_6573-42del	ATM, C11orf65	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 633055	NM_000051.4(ATM):c.6808-72ATT[4]	ATM, C11orf65	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 1177615	NM_000051.4(ATM):c.8671+104T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1192463	NM_000051.4(ATM):c.8786+90G>A	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177616	NM_000051.4(ATM):c.8787-55C>T	ATM, C11orf65	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1169174	NM_000051.4(ATM):c.8850+60A>G	ATM, C11orf65	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign

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Items: 20