"GeneKor MSA"[submitter] AND "BLM"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 127473	NM_000057.4(BLM):c.11T>C (p.Val4Ala)	BLM (V4A)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 317405	NM_000057.4(BLM):c.98+6T>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +1 more	GUncertain significance
Select item 127479	NM_000057.4(BLM):c.191A>T (p.Asp64Val)	BLM (D64V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 575327	NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)	BLM (Y296F)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 584504	NM_000057.4(BLM):c.888T>C (p.Tyr296=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 584505	NM_000057.4(BLM):c.955C>T (p.Leu319Phe)	BLM (L319F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 127475	NM_000057.4(BLM):c.1315A>G (p.Met439Val)	BLM (M439V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 584502	NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys)	BLM (Y519C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127478	NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	BLM (Q548* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 571919	NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)	BLM (P956L +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance
Select item 584503	NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)	BLM (I1005T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 236810	NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	BLM (H1014R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 405312	NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)	BLM (R1139P +1 more)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127499	NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)	BLM (E1143K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 236819	NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 454145	NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)	BLM (H1324Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 136520	NM_000057.4(BLM):c.4076+4T>G	BLM	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 405276	NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)	BLM (I1405T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance