List of variants in gene BLM reported as uncertain significance by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	rs367953471	0.00007
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)	rs200756519	0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)	rs1024172175	0.00003
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	rs746218707	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3892G>A (p.Gly1298Arg)	rs587779889	0.00001
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)	rs747834576	0.00001
NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)	rs1555419001
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)	rs778786003
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)	rs878853553
NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr)	rs1555419932
NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)	rs1555419934
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)	rs587778110
NM_000057.4(BLM):c.1964TGA[1] (p.Met656del)	rs1555420164
NM_000057.4(BLM):c.1978C>T (p.His660Tyr)	rs139688226
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)	rs761589072
NM_000057.4(BLM):c.2150G>C (p.Arg717Thr)	rs28406486
NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del)	rs1555418278
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2407-9del	rs747699258
NM_000057.4(BLM):c.24T>G (p.Asn8Lys)	rs1060500635
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)	rs1555418301
NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)	rs1555423425
NM_000057.4(BLM):c.318ATT[1] (p.Leu108del)	rs1555418313
NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)	rs762716289
NM_000057.4(BLM):c.4039_4048del (p.Arg1347fs)	rs1555425105
NM_000057.4(BLM):c.4123del (p.Ser1375fs)	rs1555425410
NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter)	rs1555425417
NM_000057.4(BLM):c.4252T>A (p.Ter1418Lys)	rs1555425441
NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)	rs773427744
NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup)	rs1555418362
NM_000057.4(BLM):c.678_680dup (p.Asp227dup)	rs1555418424
NM_000057.4(BLM):c.98+3_98+6del	rs1555418015

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