S Harvey - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378142	NM_000249.4(MLH1):c.1238C>T (p.Thr413Ile)	MLH1 (T413I +5 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 128028	NM_005732.4(RAD50):c.943G>T (p.Val315Leu)	RAD50 (V315L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4888	NM_003977.4(AIP):c.910C>T (p.Arg304Ter)	AIP (R304* +1 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 182764	NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)	PALB2 (I702M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30285	NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	RAD51D, RAD51L3-RFFL (R186* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 3075	NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	ARSA (T276M +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 189763	NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database
Select item 93556	NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	LOC130068854, MECP2	Microsatellite (5 prime UTR variant +1 more)	Rett syndrome	GBenign FDA Recognized database