BLM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 146712	GRCh38/hg38 15q26.1(chr15:90216530-90767025)x1	BLM, CIB1 +44 more	Copy number loss	See cases	GUncertain significance
Select item 1285938	NR_120372.1(CRTC3-AS1):n.19A>C	BLM, CRTC3-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 317402	NM_000057.4(BLM):c.-70G>T	BLM	Single nucleotide variant (5 prime UTR variant)	Bloom syndrome	GUncertain significance
Select item 317403	NM_000057.4(BLM):c.-65C>T	BLM	Single nucleotide variant (5 prime UTR variant)	Bloom syndrome	GUncertain significance
Select item 887590	NM_000057.4(BLM):c.-59T>A	BLM	Single nucleotide variant (5 prime UTR variant)	Bloom syndrome	GUncertain significance
Select item 884448	NM_000057.4(BLM):c.-33G>C	BLM	Single nucleotide variant (5 prime UTR variant)	Bloom syndrome	GUncertain significance
Select item 317404	NM_000057.4(BLM):c.-29C>T	BLM	Single nucleotide variant (5 prime UTR variant)	Bloom syndrome	GUncertain significance
Select item 1751005	NM_000057.4(BLM):c.-5G>A	BLM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 136515	NM_000057.4(BLM):c.-5+16G>C	BLM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1291120	NM_000057.4(BLM):c.-5+274G>C	BLM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258065	NM_000057.4(BLM):c.-5+295G>C	BLM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258326	NM_000057.4(BLM):c.-4-253G>C	BLM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 658981	NC_000015.10:g.(?_90747383)_(90751956_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 645869	NC_000015.9:g.(?_91290613)_(91298178_?)dup	BLM	Duplication	Bloom syndrome	GUncertain significance
Select item 990969	NM_000057.4(BLM):c.-4-2A>T	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GUncertain significance
Select item 524849	NC_000015.9:g.(?_91290617)_(91358515_?)dup	BLM, LOC130057935	Duplication	Bloom syndrome	GUncertain significance
Select item 2562335	NM_000057.4(BLM):c.-4G>A	BLM	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2777335	NM_000057.4(BLM):c.1A>G (p.Met1Val)	BLM (M1V)	Single nucleotide variant (missense variant +2 more)	Bloom syndrome	GUncertain significance
Select item 558084	NM_000057.4(BLM):c.1A>C (p.Met1Leu)	BLM (M1L)	Single nucleotide variant (missense variant +2 more)	Bloom syndrome	GLikely pathogenic
Select item 370566	NM_000057.4(BLM):c.2T>C (p.Met1Thr)	BLM (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 580296	NM_000057.4(BLM):c.4G>T (p.Ala2Ser)	BLM (A2S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1750979	NM_000057.4(BLM):c.5C>A (p.Ala2Asp)	BLM (A2D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2680184	NM_000057.4(BLM):c.8_9dup (p.Val4fs)	BLM (V4fs)	Duplication (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 838635	NM_000057.4(BLM):c.7G>A (p.Ala3Thr)	BLM (A3T)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1161108	NM_000057.4(BLM):c.9T>C (p.Ala3=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1488692	NM_000057.4(BLM):c.10G>C (p.Val4Leu)	BLM (V4L)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1414390	NM_000057.4(BLM):c.10G>T (p.Val4Phe)	BLM (V4F)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1051649	NM_000057.4(BLM):c.10G>A (p.Val4Ile)	BLM (V4I)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1462030	NM_000057.4(BLM):c.11T>A (p.Val4Asp)	BLM (V4D)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 127473	NM_000057.4(BLM):c.11T>C (p.Val4Ala)	BLM (V4A)	Single nucleotide variant (missense variant +1 more)	BLM-related condition +5 more	GConflicting classifications of pathogenicity
Select item 576951	NM_000057.4(BLM):c.13C>T (p.Pro5Ser)	BLM (P5S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 584877	NM_000057.4(BLM):c.14C>T (p.Pro5Leu)	BLM (P5L)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 648584	NM_000057.4(BLM):c.17A>C (p.Gln6Pro)	BLM (Q6P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 820300	NM_000057.4(BLM):c.18A>G (p.Gln6=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 2586904	NM_000057.4(BLM):c.20A>G (p.Asn7Ser)	BLM (N7S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 405286	NM_000057.4(BLM):c.24T>G (p.Asn8Lys)	BLM (N8K)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1162171	NM_000057.4(BLM):c.25C>T (p.Leu9=)	BLM	Single nucleotide variant (5 prime UTR variant +1 more)	Bloom syndrome	GLikely benign
Select item 821552	NM_000057.4(BLM):c.25C>G (p.Leu9Val)	BLM (L9V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1604853	NM_000057.4(BLM):c.27A>G (p.Leu9=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1929462	NM_000057.4(BLM):c.28C>T (p.Gln10Ter)	BLM (Q10*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 2603859	NM_000057.4(BLM):c.29A>G (p.Gln10Arg)	BLM (Q10R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1121576	NM_000057.4(BLM):c.30G>A (p.Gln10=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1692074	NM_000057.4(BLM):c.33G>A (p.Glu11=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1736850	NM_000057.4(BLM):c.39A>G (p.Leu13=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2196005	NM_000057.4(BLM):c.40G>A (p.Glu14Lys)	BLM (E14K)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1737843	NM_000057.4(BLM):c.40G>C (p.Glu14Gln)	BLM (E14Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1147328	NM_000057.4(BLM):c.42A>G (p.Glu14=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1465888	NM_000057.4(BLM):c.43C>A (p.Arg15Ser)	BLM (R15S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 236821	NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	BLM (R15C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 405329	NM_000057.4(BLM):c.44G>A (p.Arg15His)	BLM (R15H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1654155	NM_000057.4(BLM):c.45T>C (p.Arg15=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1144598	NM_000057.4(BLM):c.45T>A (p.Arg15=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1742536	NM_000057.4(BLM):c.46C>T (p.His16Tyr)	BLM (H16Y)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 961491	NM_000057.4(BLM):c.46C>G (p.His16Asp)	BLM (H16D)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1555145	NM_000057.4(BLM):c.48C>T (p.His16=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 1055863	NM_000057.4(BLM):c.50C>T (p.Ser17Leu)	BLM (S17L)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2741103	NM_000057.4(BLM):c.53C>T (p.Ala18Val)	BLM (A18V)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1747940	NM_000057.4(BLM):c.54C>G (p.Ala18=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1438235	NM_000057.4(BLM):c.56G>A (p.Arg19Lys)	BLM (R19K)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1749732	NM_000057.4(BLM):c.57A>G (p.Arg19=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 454158	NM_000057.4(BLM):c.57A>T (p.Arg19Ser)	BLM (R19S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1750966	NM_000057.4(BLM):c.59C>T (p.Thr20Ile)	BLM (T20I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2712025	NM_000057.4(BLM):c.60_61delinsTG (p.Leu21Val)	BLM (L21V)	Indel (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1751582	NM_000057.4(BLM):c.60A>C (p.Thr20=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 826187	NM_000057.4(BLM):c.60A>T (p.Thr20=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 826239	NM_000057.4(BLM):c.61C>G (p.Leu21Val)	BLM (L21V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2822957	NM_000057.4(BLM):c.63TAA[2] (p.Asn23del)	BLM (N23del)	Microsatellite (inframe_deletion +1 more)	Bloom syndrome	GUncertain significance
Select item 661679	NM_000057.4(BLM):c.64A>G (p.Asn22Asp)	BLM (N22D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1755001	NM_000057.4(BLM):c.66T>C (p.Asn22=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2680164	NM_000057.4(BLM):c.75_78del (p.Leu25fs)	BLM (L25fs)	Deletion (5 prime UTR variant +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 1370948	NM_000057.4(BLM):c.74T>G (p.Leu25Ter)	BLM (L25*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 1019278	NM_000057.4(BLM):c.74T>C (p.Leu25Ser)	BLM (L25S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 2045257	NM_000057.4(BLM):c.77_87del (p.Ser26fs)	BLM (S26fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GPathogenic
Select item 1759713	NM_000057.4(BLM):c.75A>C (p.Leu25Phe)	BLM (L25F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1159116	NM_000057.4(BLM):c.75A>G (p.Leu25=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1761571	NM_000057.4(BLM):c.79C>T (p.Leu27Phe)	BLM (L27F)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 799102	NM_000057.4(BLM):c.81T>C (p.Leu27=)	BLM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1413984	NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer)	BLM	Deletion (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 1324476	NM_000057.4(BLM):c.83C>G (p.Ser28Ter)	BLM (S28*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1763617	NM_000057.4(BLM):c.84A>C (p.Ser28=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1110582	NM_000057.4(BLM):c.84A>G (p.Ser28=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 990970	NM_000057.4(BLM):c.86A>G (p.Lys29Arg)	BLM (K29R)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 1136593	NM_000057.4(BLM):c.87A>G (p.Lys29=)	BLM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1765041	NM_000057.4(BLM):c.88C>G (p.Pro30Ala)	BLM (P30A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1765037	NM_000057.4(BLM):c.88C>A (p.Pro30Thr)	BLM (P30T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1692101	NM_000057.4(BLM):c.90A>G (p.Pro30=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 2812951	NM_000057.4(BLM):c.97dup (p.Ser33fs)	BLM (S33fs)	Duplication (frameshift variant +1 more)	Bloom syndrome	GPathogenic
Select item 1604318	NM_000057.4(BLM):c.93A>G (p.Lys31=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 1543245	NM_000057.4(BLM):c.96T>C (p.Phe32=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 2746147	NM_000057.4(BLM):c.98_98+1del	BLM	Deletion (splice donor variant)	Bloom syndrome	GLikely pathogenic

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