C3469522[trait identifier] AND "Laboratorio de Genetica e Diagnostico - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1683760	NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)	HMMR, HMMR-AS1 (V556A +3 more)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to	GUncertain significance
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	C11orf65, ATM (E1978*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +6 more	GPathogenic
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	Colorectal cancer +19 more	GPathogenic

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ClinVar