C0005859[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2680164	NM_000057.4(BLM):c.75_78del (p.Leu25fs)	BLM (L25fs)	Deletion (frameshift 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/Likely pathogenic
Select item 667391	NM_000057.4(BLM):c.98+1G>C	BLM	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371055	NM_000057.4(BLM):c.98+1G>A	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370200	NM_000057.4(BLM):c.98+1G>T	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 454095	NM_000057.4(BLM):c.213_214del (p.Ser72fs)	BLM (S72fs)	Deletion (frameshift variant +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 371569	NM_000057.4(BLM):c.298_299del (p.Gln100fs)	BLM (Q100fs)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1937589	NM_000057.4(BLM):c.299dup (p.Arg101fs)	BLM (R101fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240931	NM_000057.4(BLM):c.303_304del (p.Gly102fs)	BLM (G102fs)	Microsatellite (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 1683330	NM_000057.4(BLM):c.311C>A (p.Ser104Ter)	BLM (S104*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 405281	NM_000057.4(BLM):c.320dup (p.Leu107fs)	BLM (L107fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1071612	NM_000057.4(BLM):c.357_358del (p.Cys120fs)	BLM (C120fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2680185	NM_000057.4(BLM):c.418G>T (p.Glu140Ter)	BLM (E140*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GLikely pathogenic
Select item 2680170	NM_000057.4(BLM):c.516del (p.Gln174fs)	BLM (Q174fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 3240927	NM_000057.4(BLM):c.550C>T (p.Gln184Ter)	BLM (Q184*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GLikely pathogenic
Select item 5455	NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)	BLM	Deletion (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 189032	NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)	BLM	Deletion (nonsense +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2174647	NM_000057.4(BLM):c.646G>T (p.Glu216Ter)	BLM (E216*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 826568	NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	BLM (Q224*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 664539	NM_000057.4(BLM):c.709del (p.Cys237fs)	BLM (C237fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2849451	NM_000057.4(BLM):c.729del (p.Ile243fs)	BLM (I243fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2680191	NM_000057.4(BLM):c.746del (p.Asn249fs)	BLM (N249fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 42092	NM_000057.4(BLM):c.772_773del (p.Leu258fs)	BLM (L258fs)	Microsatellite (frameshift variant +1 more)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 952330	NM_000057.4(BLM):c.800-2A>G	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2680166	NM_000057.4(BLM):c.804_805del (p.Asn268fs)	BLM (N268fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 1455829	NM_000057.4(BLM):c.855del (p.Val286fs)	BLM (V286fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 556630	NM_000057.4(BLM):c.959+1_959+9del	BLM	Deletion (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2680163	NM_000057.4(BLM):c.959+2T>C	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GPathogenic
Select item 3240925	NM_000057.4(BLM):c.960-2A>G	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 853126	NM_000057.4(BLM):c.960-2A>C	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 643599	NM_000057.4(BLM):c.960-1G>A	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 2680179	NM_000057.4(BLM):c.1087+1G>T	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 553853	NM_000057.4(BLM):c.1087+1G>A	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 553777	NM_000057.4(BLM):c.1088-1G>A	BLM	Single nucleotide variant (5 prime UTR variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 632671	NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)	BLM (R364*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 127472	NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)	BLM (I366T)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1734905	NM_000057.4(BLM):c.1154del (p.Thr385fs)	BLM (T385fs +1 more)	Deletion (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2680169	NM_000057.4(BLM):c.1220+1G>T	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 3017473	NM_000057.4(BLM):c.1220+2T>G	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 554578	NM_000057.4(BLM):c.1221-2A>C	BLM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1432994	NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)	BLM (E38* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 454072	NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)	BLM (E413K +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 555723	NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	BLM (S434* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 182059	NM_000057.4(BLM):c.1358T>G (p.Leu453Ter)	BLM (L453* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 551122	NM_000057.4(BLM):c.1399dup (p.Asp467fs)	BLM (D467fs +1 more)	Duplication (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 553382	NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	BLM (T102fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2009072	NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)	BLM (T102fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 454077	NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)	BLM (F479C +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 2680182	NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)	BLM (K109* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 371108	NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)	BLM (T119fs +1 more)	Deletion (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1073856	NM_000057.4(BLM):c.1487del (p.Leu496fs)	BLM (L121fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 573915	NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)	BLM (Q497R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2586882	NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)	BLM (W505* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42064	NM_000057.4(BLM):c.1544dup (p.Asn515fs)	BLM (N515fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 374315	NM_000057.4(BLM):c.1544del (p.Asn515fs)	BLM (N140fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 3240933	NM_000057.4(BLM):c.1545del (p.Asn515fs)	BLM (N140fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 2680178	NM_000057.4(BLM):c.1622del (p.Asn541fs)	BLM (N166fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 819694	NM_000057.4(BLM):c.1624del (p.Asp542fs)	BLM (D542fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 856945	NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)	BLM (R170fs +1 more)	Deletion (frameshift variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
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 819865	NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)	BLM (W192* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371641	NM_000057.4(BLM):c.1740del (p.Thr581fs)	BLM (T206fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 820081	NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)	BLM (S220* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +1 more	GPathogenic
Select item 2680192	NM_000057.4(BLM):c.1882+2T>C	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 1073866	NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)	BLM (S255* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2034184	NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)	BLM (Q632* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 454091	NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	BLM (Q645* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2680175	NM_000057.4(BLM):c.1953_1956del (p.His651fs)	BLM (H276fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 495425	NM_000057.4(BLM):c.1968dup (p.Lys657fs)	BLM (K657fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 553499	NM_000057.4(BLM):c.1985_1986del (p.Lys662fs)	BLM (K287fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic
Select item 188963	NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)	BLM (Q672R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GLikely pathogenic
Select item 2680173	NM_000057.4(BLM):c.2023dup (p.Ala675fs)	BLM (A300fs +1 more)	Duplication (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 1785639	NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)	BLM (S321fs +1 more)	Microsatellite (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42067	NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)	BLM (Q700* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2680168	NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)	BLM	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 2680162	NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)	BLM (T353fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 405328	NM_000057.4(BLM):c.2193+1_2193+9del	BLM	Deletion (splice donor variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 5454	NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	BLM (Y736fs +1 more)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 188790	NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)	BLM (L376fs +1 more)	Insertion (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 803135	NM_000057.4(BLM):c.2268del (p.Asp757fs)	BLM (D757fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557764	NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	BLM (Y389fs +1 more)	Microsatellite (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 998277	NM_000057.4(BLM):c.2318G>A (p.Ser773Asn)	BLM (S398N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821107	NM_000057.4(BLM):c.2329A>G (p.Ile777Val)	BLM (I402V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 845042	NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	BLM	Microsatellite (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 941878	NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	BLM (Q427fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1331371	NM_000057.4(BLM):c.2406+2T>G	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2680165	NM_000057.4(BLM):c.2407-2A>G	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 1021353	NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	BLM (W428R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1075171	NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	BLM (G429* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 42178	NM_000057.4(BLM):c.2488dup (p.Thr830fs)	BLM (T455fs +1 more)	Duplication (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42071	NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	BLM (R836fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 2680181	NM_000057.4(BLM):c.2516del (p.Lys839fs)	BLM (K464fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 2680171	NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)	BLM (I841T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1327067	NM_000057.4(BLM):c.2537A>C (p.Lys846Thr)	BLM (K471T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1793000	NM_000057.4(BLM):c.2555+1G>A	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome +1 more	GLikely pathogenic
Select item 1396588	NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	BLM (Y490* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 2680176	NM_000057.4(BLM):c.2603del (p.Pro868fs)	BLM (P493fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic

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