C3280442[trait identifier] AND "Department of Human Genetics, Hannover - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55577	NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter)	BRCA1 (Q1811* +90 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55431	NM_007294.4(BRCA1):c.5153-2del	BRCA1	Deletion (splice acceptor variant)	not provided +6 more	GPathogenic
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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ClinVar