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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: DNA Repair-Deficiency Disorders (D049914)
..Starting node ..Bloom Syndrome (D001816)
Child Nodes:
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..Bloom Syndrome (D001816)
..Cockayne Syndrome (D003057) 6
..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
..Fanconi Anemia (D005199) 13
..Li-Fraumeni Syndrome (D016864) 4
..N syndrome (C536108)
..NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT (OMIM:609981)
..Nijmegen Breakage Syndrome (D049932) 1
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Rothmund-Thomson Syndrome (D011038) 5
..Severe Combined Immunodeficiency (D016511) 22
..Werner Syndrome (D014898) 1
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1331

Name:

Bloom Syndrome

Definition:

An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.

Alternative IDs:

OMIM:210900

ParentIDs:

MESH:D000015|MESH:D049914

TreeNumbers:

C16.131.077.137 |C18.452.284.100

Synonyms:

Slim Mappings:

Congenital abnormality|Metabolic disease

Reference:

MedGen: D001816
MeSH: D001816
OMIM: 210900;

Genes: BLM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003220	Abnormality of chromosome stability
3	HP:0000690	Agenesis of maxillary lateral incisor
4	HP:0000027	Azoospermia
5	HP:0002110	Bronchiectasis
6	HP:0000957	Cafe-au-lait spot
7	HP:0040012	Chromosome breakage
8	HP:0006528	Chronic lung disease
9	HP:0004209	Clinodactyly of the 5th finger
10	HP:0000028	Cryptorchidism
11	HP:0000992	Cutaneous photosensitivity
12	HP:0002720	Decreased circulating IgA level
13	HP:0004315	Decreased circulating IgG level
14	HP:0002850	Decreased circulating total IgM
15	HP:0000868	Decreased fertility in females
16	HP:0000268	Dolichocephaly
17	HP:0005598	Facial telangiectasia in butterfly midface distribution
18	HP:0001161	Hand polydactyly
19	HP:0001620	High pitched voice
20	HP:0000998	Hypertrichosis
21	HP:0001256	Intellectual disability, mild	HP:0040283
22	HP:0001511	Intrauterine growth retardation
23	HP:0001909	Leukemia
24	HP:0002665	Lymphoma
25	HP:0000272	Malar flattening
26	HP:0000252	Microcephaly
27	HP:0000275	Narrow face
28	HP:0008897	Postnatal growth retardation
29	HP:0000448	Prominent nose
30	HP:0000411	Protruding ear
31	HP:0001328	Specific learning disability
32	HP:0005585	Spotty hyperpigmentation
33	HP:0005590	Spotty hypopigmentation
34	HP:0002860	Squamous cell carcinoma
35	HP:0001159	Syndactyly
36	HP:0005978	Type II diabetes mellitus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000057.3(BLM):c.11T>C (p.Val4Ala)	641	BLM	Uncertain significance	144706057	RCV000210906; RCV000115279;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN169374	15	91290633	91290633	NM_000057.3:c.11T>C	NP_000048.1:p.Val4Ala	NC_000015.9:g.91290633T>C	-	C0005859 210900 Bloom syndrome; CN169374 not specified
NM_000057.3(BLM):c.275delA (p.Asn92Metfs)	641	BLM	Pathogenic	367543027	RCV000034899;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91292773	91292773	NM_000057.3:c.275delA	NP_000048.1:p.Asn92Metfs	NC_000015.9:g.91292773delA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.311C>A (p.Ser104Ter)	641	BLM	Pathogenic	367543030	RCV000034903;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91292809	91292809	NM_000057.3:c.311C>A	NP_000048.1:p.Ser104Ter	NC_000015.9:g.91292809C>A	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.557_559delCAA (p.Ser186_Pro521delinsTer)	641	BLM	Pathogenic	367543035	RCV000005788;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91293055	91293057	NM_000057.3:c.557_559delCAA	NP_000048.1:p.Ser186_Pro521delinsTer	NC_000015.9:g.91293055_91293057delCAA	OMIM Allelic Variant:604610.0002	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.581_582delTT (p.Phe194Terfs)	641	BLM	Likely pathogenic	786204640	RCV000169422;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91293079	91293080	NM_000057.3:c.581_582delTT	NP_000048.1:p.Phe194Terfs	NC_000015.9:g.91293079_91293080delTT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.582delT (p.Phe194Leufs)	641	BLM	Pathogenic	367543026	RCV000034917;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91293080	91293080	NM_000057.3:c.582delT	NP_000048.1:p.Phe194Leufs	NC_000015.9:g.91293080delT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.772_773delCT (p.Leu258Glufs)	641	BLM	Likely pathogenic;Pathogenic	367543013	RCV000034918;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91293270	91293271	NM_000057.3:c.772_773delCT	NP_000048.1:p.Leu258Glufs	NC_000015.9:g.91293270_91293271delCT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.991_995delAAAGA (p.Lys331Glyfs)	641	BLM	Likely pathogenic	786204524	RCV000169224;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91298072	91298076	NM_000057.3:c.991_995delAAAGA	NP_000048.1:p.Lys331Glyfs	NC_000015.9:g.91298072_91298076delAAAGA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.1088-2A>G	641	BLM	Pathogenic	367543015	RCV000034889;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91303375	91303375	NM_000057.3:c.1088-2A>G		NC_000015.9:g.91303375A>G	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.1544dupA (p.Asn515Lysfs)	641	BLM	Pathogenic	367543043	RCV000034890;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91304147	91304147	NM_000057.3:c.1544dupA	NP_000048.1:p.Asn515Lysfs	NC_000015.9:g.91304147dupA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.1628T>A (p.Leu543Ter)	641	BLM	Pathogenic	367543038	RCV000034891;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91304231	91304231	NM_000057.3:c.1628T>A	NP_000048.1:p.Leu543Ter	NC_000015.9:g.91304231T>A	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter)	641	BLM	Pathogenic	200389141	RCV000144577; RCV000115284;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN221809	15	91304245	91304245	NM_000057.3:c.1642C>T	NP_000048.1:p.Gln548Ter	NC_000015.9:g.91304245C>T	-	C0005859 210900 Bloom syndrome; CN221809 not provided
NM_000057.3(BLM):c.1928G>A (p.Arg643His)	641	BLM	Likely benign;Uncertain significance	12720097	RCV000211548; RCV000116502;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN169374	15	91306241	91306241	NM_000057.3:c.1928G>A	NP_000048.1:p.Arg643His	NC_000015.9:g.91306241G>A	-	C0005859 210900 Bloom syndrome; CN169374 not specified
NM_000057.3(BLM):c.2015A>G (p.Gln672Arg)	641	BLM	Likely pathogenic	747281324	RCV000169338;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91306328	91306328	NM_000057.3:c.2015A>G	NP_000048.1:p.Gln672Arg	NC_000015.9:g.91306328A>G	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2074+1G>T	641	BLM	Pathogenic	367543036	RCV000034892;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91306388	91306388	NM_000057.3:c.2074+1G>T		NC_000015.9:g.91306388G>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2098C>T (p.Gln700Ter)	641	BLM	Pathogenic	367543028	RCV000034893;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91308549	91308549	NM_000057.3:c.2098C>T	NP_000048.1:p.Gln700Ter	NC_000015.9:g.91308549C>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2119C>T (p.Pro707Ser)	641	BLM	Likely benign	146077918	RCV000172805; RCV000115288;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN169374	15	91308570	91308570	NM_000057.3:c.2119C>T	NP_000048.1:p.Pro707Ser	NC_000015.9:g.91308570C>T	-	C0005859 210900 Bloom syndrome; CN169374 not specified
NM_000057.3(BLM):c.2193+2T>G	641	BLM	Pathogenic	367543040	RCV000034894;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91308646	91308646	NM_000057.3:c.2193+2T>G		NC_000015.9:g.91308646T>G	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs)	641	BLM	Pathogenic	113993962	RCV000005787; RCV000058933; RCV000115290;	Y	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:C0027672,SNOMED CT:699346009; MedGen:CN221809	15	91310153	91310158	NM_000057.3:c.2207_2212delATCTGAinsTAGATTC	NP_000048.1:p.Tyr736Leufs		OMIM Allelic Variant:604610.0001	C0005859 210900 Bloom syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000057.3(BLM):c.2207_2212delATCTGAins7	641	BLM	Pathogenic	113993962	RCV000173626;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91310153	91310158	NM_000057.3:c.2207_2212delATCTGAins7			-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2250_2251insAAAT (p.Leu751Lysfs)	641	BLM	Likely pathogenic	786204471	RCV000169119;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91310196	91310197	NM_000057.3:c.2250_2251insAAAT	NP_000048.1:p.Leu751Lysfs	NC_000015.9:g.91310196_91310197insAAAT	-	C0005859 210900 Bloom syndrome
NM_000057.2(BLM):c.2308-953_2555+4719del	641	BLM	Pathogenic	-1	RCV000034895;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91311410	91317535	NM_000057.2:c.2308-953_2555+4719del			OMIM Allelic Variant:604610.0003,dbVar:nssv3761622,dbVar:nsv1067897	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2406+2T>G	641	BLM	Pathogenic	367543016	RCV000034896;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91312463	91312463	NM_000057.3:c.2406+2T>G		NC_000015.9:g.91312463T>G	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2407dupT (p.Trp803Leufs)	641	BLM	Pathogenic	367543012	RCV000035004;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91312668	91312668	NM_000057.3:c.2407dupT	NP_000048.1:p.Trp803Leufs	NC_000015.9:g.91312668dupT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2488dupA (p.Thr830Asnfs)	641	BLM	Pathogenic	367543019	RCV000035005;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91312749	91312749	NM_000057.3:c.2488dupA	NP_000048.1:p.Thr830Asnfs	NC_000015.9:g.91312749dupA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2506_2507delAG (p.Arg836Glyfs)	641	BLM	Pathogenic	367543024	RCV000034897;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91312767	91312768	NM_000057.3:c.2506_2507delAG	NP_000048.1:p.Arg836Glyfs	NC_000015.9:g.91312767_91312768delAG	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2580_2581delTA (p.His860Glnfs)	641	BLM	Pathogenic	864622347	RCV000204244;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91326076	91326077	NM_000057.3:c.2580_2581delTA	NP_000048.1:p.His860Glnfs	NC_000015.9:g.91326076_91326077delTA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu)	641	BLM	Benign;Likely benign	2227935	RCV000144575; RCV000078058;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN169374	15	91326099	91326099	NM_000057.3:c.2603C>T	NP_000048.1:p.Pro868Leu	NC_000015.9:g.91326099C>T	HGMD:CM102917	C0005859 210900 Bloom syndrome; CN169374 not specified
NM_000057.3(BLM):c.2643G>A (p.Trp881Ter)	641	BLM	Pathogenic	367543039	RCV000034898;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91326139	91326139	NM_000057.3:c.2643G>A	NP_000048.1:p.Trp881Ter	NC_000015.9:g.91326139G>A	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter)	641	BLM	Likely pathogenic;Pathogenic	587779884	RCV000169191; RCV000115298;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN221809	15	91328183	91328183	NM_000057.3:c.2695C>T	NP_000048.1:p.Arg899Ter	NC_000015.9:g.91328183C>T	-	C0005859 210900 Bloom syndrome; CN221809 not provided
NM_000057.3(BLM):c.2855G>T (p.Gly952Val)	641	BLM	Pathogenic	367543034	RCV000034900;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91333910	91333910	NM_000057.3:c.2855G>T	NP_000048.1:p.Gly952Val	NC_000015.9:g.91333910G>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2887C>T (p.His963Tyr)	641	BLM	Pathogenic	367543023	RCV000034901;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91333942	91333942	NM_000057.3:c.2887C>T	NP_000048.1:p.His963Tyr	NC_000015.9:g.91333942C>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.2923delC (p.Gln975Lysfs)	641	BLM	Pathogenic	367543014	RCV000034902; RCV000115301;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:C0027672,SNOMED CT:699346009	15	91333978	91333978	NM_000057.3:c.2923delC	NP_000048.1:p.Gln975Lysfs	NC_000015.9:g.91333978delC	-	C0005859 210900 Bloom syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_001287246.1(BLM):c.3014_3015insTATCA (p.Met1006Ilefs)	641	BLM	Likely pathogenic	797045115	RCV000190641;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91334069	91334070	NM_001287246.1:c.3014_3015insTATCA	NP_001274175.1:p.Met1006Ilefs	NC_000015.9:g.91334069_91334070insTATCA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3028delG (p.Asp1010Metfs)	641	BLM	Likely pathogenic	780379121	RCV000169440;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91337405	91337405	NM_000057.3:c.3028delG	NP_000048.1:p.Asp1010Metfs	NC_000015.9:g.91337405delG	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3107G>T (p.Cys1036Phe)	641	BLM	Pathogenic	137853153	RCV000005790;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91337484	91337484	NM_000057.3:c.3107G>T	NP_000048.1:p.Cys1036Phe	NC_000015.9:g.91337484G>T	OMIM Allelic Variant:604610.0004	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3164G>C (p.Cys1055Ser)	641	BLM	Pathogenic	367543029	RCV000034904; RCV000159829;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:C0027672,SNOMED CT:699346009	15	91337541	91337541	NM_000057.3:c.3164G>C	NP_000048.1:p.Cys1055Ser	NC_000015.9:g.91337541G>C	-	C0005859 210900 Bloom syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000057.3(BLM):c.3191A>T (p.Asp1064Val)	641	BLM	Pathogenic	367543032	RCV000034905;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91337568	91337568	NM_000057.3:c.3191A>T	NP_000048.1:p.Asp1064Val	NC_000015.9:g.91337568A>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3197G>A (p.Cys1066Tyr)	641	BLM	Pathogenic	367543025	RCV000034906;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91337574	91337574	NM_000057.3:c.3197G>A	NP_000048.1:p.Cys1066Tyr	NC_000015.9:g.91337574G>A	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3223dupA (p.Arg1075Lysfs)	641	BLM	Pathogenic	367543022	RCV000034907;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91341432	91341432	NM_000057.3:c.3223dupA	NP_000048.1:p.Arg1075Lysfs	NC_000015.9:g.91341432dupA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3255_3256insT (p.Arg1086Terfs)	641	BLM	Pathogenic	367543037	RCV000034908;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91341464	91341465	NM_000057.3:c.3255_3256insT	NP_000048.1:p.Arg1086Terfs	NC_000015.9:g.91341464_91341465insT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3278C>G (p.Ser1093Ter)	641	BLM	Pathogenic	367543017	RCV000034909;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91341487	91341487	NM_000057.3:c.3278C>G	NP_000048.1:p.Ser1093Ter	NC_000015.9:g.91341487C>G,NC_000015.9:g.91341487C>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3415C>T (p.Arg1139Ter)	641	BLM	Pathogenic	587783037	RCV000144576;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91346807	91346807	NM_000057.3:c.3415C>T	NP_000048.1:p.Arg1139Ter	NC_000015.9:g.91346807C>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3475_3476delTT (p.Leu1159Ilefs)	641	BLM	Pathogenic	367543033	RCV000034910;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91346867	91346868	NM_000057.3:c.3475_3476delTT	NP_000048.1:p.Leu1159Ilefs	NC_000015.9:g.91346867_91346868delTT	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3558+1G>A	641	BLM	Pathogenic	148969222	RCV000034911;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91346951	91346951	NM_000057.3:c.3558+1G>A		NC_000015.9:g.91346951G>A,NC_000015.9:g.91346951G>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3558+1G>T	641	BLM	Likely pathogenic	148969222	RCV000205550;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91346951	91346951	NM_000057.3:c.3558+1G>T		NC_000015.9:g.91346951G>A,NC_000015.9:g.91346951G>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3587delG (p.Ser1196Thrfs)	641	BLM	Pathogenic	367543018	RCV000034912;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91347425	91347425	NM_000057.3:c.3587delG	NP_000048.1:p.Ser1196Thrfs	NC_000015.9:g.91347425delG	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr)	641	BLM	Likely benign;Uncertain significance	1801256	RCV000168286; RCV000115309;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006; MedGen:CN169374	15	91347463	91347463	NM_000057.3:c.3625T>A	NP_000048.1:p.Ser1209Thr	NC_000015.9:g.91347463T>A	-	C0005859 210900 Bloom syndrome; CN169374 not specified
NM_000057.3(BLM):c.3681delA (p.Lys1227Asnfs)	641	BLM	Pathogenic	367543020	RCV000034913;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91347519	91347519	NM_000057.3:c.3681delA	NP_000048.1:p.Lys1227Asnfs	NC_000015.9:g.91347519delA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3727dupA (p.Thr1243Asnfs)	641	BLM	Pathogenic	367543021	RCV000034914;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91347565	91347565	NM_000057.3:c.3727dupA	NP_000048.1:p.Thr1243Asnfs	NC_000015.9:g.91347565dupA	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3751+(?_0)_*(177_?)del	641	BLM	Pathogenic	-1	RCV000034919;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91347589	91358686	-	-		-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3847C>T (p.Gln1283Ter)	641	BLM	Pathogenic	367543031	RCV000034915;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91352462	91352462	NM_000057.3:c.3847C>T	NP_000048.1:p.Gln1283Ter	NC_000015.9:g.91352462C>T	-	C0005859 210900 Bloom syndrome
NM_000057.3(BLM):c.3949G>A (p.Glu1317Lys)	641	BLM	Uncertain significance	730880251	RCV000157586;	N	MedGen:C0005859,OMIM:210900,ORPHA:125,SNOMED CT:4434006	15	91354509	91354509	NM_000057.3:c.3949G>A	NP_000048.1:p.Glu1317Lys	NC_000015.9:g.91354509G>A	-	C0005859 210900 Bloom syndrome