"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 581487	NM_000057.4(BLM):c.395G>A (p.Arg132Gln)	BLM (R132Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 133707	NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	BLM (K137R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 136508	NM_000057.4(BLM):c.465T>C (p.Asp155=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 127478	NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	BLM (Q548* +1 more)	Single nucleotide variant (nonsense)	BLM-related condition +3 more	GPathogenic
Select item 136511	NM_000057.4(BLM):c.1722A>G (p.Leu574=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 127480	NM_000057.4(BLM):c.1928G>A (p.Arg643His)	BLM (R643H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 454091	NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	BLM (Q645* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 127482	NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	BLM (P707S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 136514	NM_000057.4(BLM):c.2268A>G (p.Lys756=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127491	NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	BLM (R899* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 650294	NM_000057.4(BLM):c.2872G>A (p.Val958Met)	BLM (V583M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 220019	NM_000057.4(BLM):c.3558+1G>T	BLM	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 405304	NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 236818	NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	BLM	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136519	NM_000057.4(BLM):c.3960C>T (p.Pro1320=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 136520	NM_000057.4(BLM):c.4076+4T>G	BLM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 454148	NM_000057.4(BLM):c.4077-5T>C	BLM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity