ClinVar for PubMed (Select 29439820) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 667391	NM_000057.4(BLM):c.98+1G>C	BLM	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 632402	NM_001184.4(ATR):c.2634-1G>A	ATR	Single nucleotide variant (splice acceptor variant)	Seckel syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 371055	NM_000057.4(BLM):c.98+1G>A	BLM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 237074	NM_000136.3(FANCC):c.521+1G>A	FANCC	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 208639	NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	FANCI (K808* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 128071	NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	CHEK2 (R117G +1 more)	Single nucleotide variant (missense variant +1 more)	Li-Fraumeni syndrome 2 +14 more	GPathogenic/Likely pathogenic
Select item 127497	NM_000057.4(BLM):c.3210+2del	BLM	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 52805	NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu)	BRCA2 (D3095E)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database