ClinVar for MedGen (Select 2685) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243696	NC_000015.9:g.(?_91289802)_(91292950_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243695	NC_000015.9:g.(?_91291282)_(91292741_?)del	BLM	Deletion	Bloom syndrome	GLikely pathogenic
Select item 3243694	NC_000015.9:g.(?_91333869)_(91358509_?)dup	BLM	Duplication	Bloom syndrome	GUncertain significance
Select item 3243692	NC_000015.9:g.(?_91303357)_(91312836_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243691	NC_000015.9:g.(?_91290623)_(91308654_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243690	NC_000015.9:g.(?_91290623)_(91293317_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243689	NC_000015.9:g.(?_91290623)_(91341587_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243688	NC_000015.9:g.(?_91346731)_(91358509_?)del	BLM	Deletion	Bloom syndrome	GLikely pathogenic
Select item 3243687	NC_000015.9:g.(?_91337387)_(91354646_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243686	NC_000015.9:g.(?_91333859)_(91337607_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243685	NC_000015.9:g.(?_89379429)_(91312836_?)del	ABHD2, ACAN +29 more	Deletion	D-2-hydroxyglutaric aciduria 2 +1 more	GConflicting classifications of pathogenicity
Select item 3243684	NC_000015.9:g.(?_91298021)_(91298188_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243683	NC_000015.9:g.(?_91312656)_(91316451_?)del	BLM	Deletion	Bloom syndrome	GPathogenic
Select item 3243681	NC_000015.9:g.(?_91310120)_(91310273_?)del	BLM	Deletion	Bloom syndrome	GUncertain significance
Select item 3240933	NM_000057.4(BLM):c.1545del (p.Asn515fs)	BLM (N140fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 3240932	NM_000057.4(BLM):c.3343del (p.Val1115fs)	BLM (V1115fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely 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 3240930	NM_000057.4:c.959+2_959+3insAlu	BLM	Insertion	Bloom syndrome	GLikely pathogenic
Select item 3240929	NM_000057.4(BLM):c.3504dup (p.Ala1169fs)	BLM (A1169fs +1 more)	Duplication (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 3240928	NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter)	BLM (E1143* +1 more)	Single nucleotide variant (nonsense +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 3240926	NM_000057.4(BLM):c.2663-1G>A	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 3240925	NM_000057.4(BLM):c.960-2A>G	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 3240924	NM_000057.4(BLM):c.2918dup (p.Tyr973Ter)	BLM (Y598* +1 more)	Duplication (nonsense)	Bloom syndrome	GLikely pathogenic
Select item 3236168	NM_000057.4(BLM):c.3559-3A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GPathogenic
Select item 3023156	NM_000057.4(BLM):c.627T>C (p.Pro209=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 3023094	NM_000057.4(BLM):c.3751+12T>C	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3022783	NM_000057.4(BLM):c.2769T>A (p.Ser923Arg)	BLM (S923R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 3022358	NM_000057.4(BLM):c.1012T>C (p.Ser338Pro)	BLM (S338P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 3020937	NM_000057.4(BLM):c.3559-11C>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3017488	NM_000057.4(BLM):c.2877A>T (p.Arg959=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 3017473	NM_000057.4(BLM):c.1220+2T>G	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 3017297	NM_000057.4(BLM):c.988A>G (p.Arg330Gly)	BLM (R330G)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 3016844	NM_000057.4(BLM):c.2046T>C (p.Gly682=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 3015106	NM_000057.4(BLM):c.1686T>C (p.Asp562=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 3014815	NM_000057.4(BLM):c.960-10T>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3014661	NM_000057.4(BLM):c.3897A>C (p.Ile1299=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 3014446	NM_000057.4(BLM):c.637T>C (p.Ser213Pro)	BLM (S213P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3013913	NM_000057.4(BLM):c.1341G>T (p.Gly447=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GUncertain significance
Select item 3013794	NM_000057.4(BLM):c.3751+15A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3012613	NM_000057.4(BLM):c.4077-17T>C	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3011339	NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)	BLM (Q1131* +2 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic
Select item 3008318	NM_000057.4(BLM):c.1690G>A (p.Asp564Asn)	BLM (D189N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3007884	NM_000057.4(BLM):c.2194-16C>T	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3007326	NM_000057.4(BLM):c.2629G>T (p.Asp877Tyr)	BLM (D877Y +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 3003800	NM_000057.4(BLM):c.1220+11T>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 3003403	NM_000057.4(BLM):c.1159C>A (p.Pro387Thr)	BLM (P12T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2999966	NM_000057.4(BLM):c.2499T>C (p.Ala833=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2999709	NM_000057.4(BLM):c.2406+16del	BLM	Deletion (intron variant)	Bloom syndrome	GBenign
Select item 2996576	NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)	BLM (C310fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic
Select item 2995234	NM_000057.4(BLM):c.3549C>A (p.Gly1183=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 2992728	NM_000057.4(BLM):c.3735T>G (p.Thr1245=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 2992469	NM_000057.4(BLM):c.1299T>C (p.Asp433=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2992390	NM_000057.4(BLM):c.2774C>T (p.Ser925Phe)	BLM (S550F +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2992103	NM_000057.4(BLM):c.1470T>C (p.Pro490=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2990747	NM_000057.4(BLM):c.267C>A (p.Phe89Leu)	BLM (F89L)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2989139	NM_000057.4(BLM):c.2214A>G (p.Thr738=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2985950	NM_000057.4(BLM):c.2556-10A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2984494	NM_000057.4(BLM):c.1088-13A>T	BLM	Single nucleotide variant (5 prime UTR variant +1 more)	Bloom syndrome	GLikely benign
Select item 2983557	NM_000057.4(BLM):c.1289A>T (p.Tyr430Phe)	BLM (Y430F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2977385	NM_000057.4(BLM):c.3923G>C (p.Gly1308Ala)	BLM (G1308A +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2977380	NM_000057.4(BLM):c.1819T>C (p.Cys607Arg)	BLM (C607R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2975209	NM_000057.4(BLM):c.960-9del	BLM	Deletion (intron variant)	Bloom syndrome	GBenign
Select item 2974917	NM_000057.4(BLM):c.578T>G (p.Phe193Cys)	BLM (F193C)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2974863	NM_000057.4(BLM):c.4234C>T (p.Pro1412Ser)	BLM (P1037S +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2973982	NM_000057.4(BLM):c.3960C>G (p.Pro1320=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2973371	NM_000057.4(BLM):c.379A>T (p.Thr127Ser)	BLM (T127S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2968154	NM_000057.4(BLM):c.3210+16T>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2967195	NM_000057.4(BLM):c.2308-20C>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2966188	NM_000057.4(BLM):c.492G>C (p.Glu164Asp)	BLM (E164D)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2964935	NM_000057.4(BLM):c.1087+5A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GUncertain significance
Select item 2962162	NM_000057.4(BLM):c.2671G>A (p.Gly891Arg)	BLM (G516R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2961787	NM_000057.4(BLM):c.2394T>C (p.His798=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2960234	NM_000057.4(BLM):c.1045_1050del (p.Ser349_Met350del)	BLM	Deletion (inframe_deletion +1 more)	Bloom syndrome	GUncertain significance
Select item 2959639	NM_000057.4(BLM):c.3874+10C>A	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2958663	NM_000057.4(BLM):c.498A>G (p.Ser166=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome	GLikely benign
Select item 2958084	NM_000057.4(BLM):c.2101C>A (p.Leu701Ile)	BLM (L701I +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2956474	NM_000057.4(BLM):c.3068del (p.Leu1023fs)	BLM (L1023fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic
Select item 2955983	NM_000057.4(BLM):c.557C>A (p.Ser186Ter)	BLM (S186*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 2955260	NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)	BLM (E660* +1 more)	Indel (nonsense)	Bloom syndrome	GPathogenic
Select item 2954708	NM_000057.4(BLM):c.3760T>C (p.Ser1254Pro)	BLM (S1123P +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2918158	NM_000057.4(BLM):c.1705G>A (p.Asp569Asn)	BLM (D569N +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2917460	NM_000057.4(BLM):c.2565G>C (p.Met855Ile)	BLM (M480I +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2917260	NM_000057.4(BLM):c.3210+3A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GUncertain significance
Select item 2914191	NM_000057.4(BLM):c.1220+14C>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2913687	NM_000057.4(BLM):c.1220+3A>T	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GUncertain significance
Select item 2913421	NM_000057.4(BLM):c.4074G>A (p.Lys1358=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2912844	NM_000057.4(BLM):c.2618A>T (p.Lys873Met)	BLM (K873M +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2912346	NM_000057.4(BLM):c.99-20G>A	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2911154	NM_000057.4(BLM):c.3559-14TC[3]	BLM	Microsatellite (intron variant)	Bloom syndrome	GLikely benign
Select item 2910805	NM_000057.4(BLM):c.2556-19A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2910385	NM_000057.4(BLM):c.608C>G (p.Thr203Arg)	BLM (T203R)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2909831	NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)	BLM (Q351*)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 2908926	NM_000057.4(BLM):c.2780G>C (p.Arg927Thr)	BLM (R927T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 2907449	NM_000057.4(BLM):c.221G>T (p.Ser74Ile)	BLM (S74I)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 2907213	NM_000057.4(BLM):c.1221-11del	BLM	Deletion (intron variant)	Bloom syndrome	GBenign
Select item 2905810	NM_000057.4(BLM):c.3752-10C>T	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
Select item 2905736	NM_000057.4(BLM):c.2024C>G (p.Ala675Gly)	BLM (A675G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2905375	NM_000057.4(BLM):c.3912C>T (p.Ser1304=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome	GLikely benign
Select item 2904733	NM_000057.4(BLM):c.1680_1691del (p.Phe561_Asp564del)	BLM	Deletion (inframe_deletion)	Bloom syndrome	GUncertain significance

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