"GeneDx"[submitter] AND "BLM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 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 1285938	NC_000015.10:g.90717122T>G	CRTC3-AS1, BLM	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
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 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 236821	NM_000057.4(BLM):c.43C>T (p.Arg15Cys)	BLM (R15C)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +3 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)	not specified +3 more	GUncertain significance
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 1212979	NM_000057.4(BLM):c.98+33G>T	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191905	NM_000057.4(BLM):c.98+256T>G	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198384	NM_000057.4(BLM):c.99-198G>A	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136507	NM_000057.4(BLM):c.174T>C (p.Pro58=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 127479	NM_000057.4(BLM):c.191A>T (p.Asp64Val)	BLM (D64V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 489300	NM_000057.4(BLM):c.205G>T (p.Glu69Ter)	BLM (E69*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 524758	NM_000057.4(BLM):c.208G>A (p.Asp70Asn)	BLM (D70N)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 454098	NM_000057.4(BLM):c.226C>A (p.Pro76Thr)	BLM (P76T)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 127488	NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	BLM (R85T)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 485329	NM_000057.4(BLM):c.264C>A (p.Asp88Glu)	BLM (D88E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127493	NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	BLM (N92D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 823490	NM_000057.4(BLM):c.329A>G (p.Asp110Gly)	BLM (D110G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 581513	NM_000057.4(BLM):c.344C>T (p.Pro115Leu)	BLM (P115L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127503	NM_000057.4(BLM):c.368A>G (p.Gln123Arg)	BLM (Q123R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 421741	NM_000057.4(BLM):c.387_389del (p.Lys130del)	BLM (K130del)	Deletion (inframe_deletion +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 581487	NM_000057.4(BLM):c.395G>A (p.Arg132Gln)	BLM (R132Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127508	NM_000057.4(BLM):c.403G>T (p.Ala135Ser)	BLM (A135S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 133707	NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	BLM (K137R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 133708	NM_000057.4(BLM):c.419A>G (p.Glu140Gly)	BLM (E140G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 136508	NM_000057.4(BLM):c.465T>C (p.Asp155=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 653573	NM_000057.4(BLM):c.470T>C (p.Met157Thr)	BLM (M157T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1037845	NM_000057.4(BLM):c.472G>A (p.Asp158Asn)	BLM (D158N)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +3 more	GUncertain significance
Select item 405327	NM_000057.4(BLM):c.488C>T (p.Ser163Phe)	BLM (S163F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +3 more	GUncertain significance
Select item 127512	NM_000057.4(BLM):c.542G>T (p.Ser181Ile)	BLM (S181I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 127513	NM_000057.4(BLM):c.604A>G (p.Asn202Asp)	BLM (N202D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 136509	NM_000057.4(BLM):c.615G>A (p.Lys205=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GBenign/Likely benign
Select item 3014446	NM_000057.4(BLM):c.637T>C (p.Ser213Pro)	BLM (S213P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 182061	NM_000057.4(BLM):c.645C>T (p.Ser215=)	BLM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 127514	NM_000057.4(BLM):c.696C>A (p.Ser232Arg)	BLM (S232R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 1711901	NM_000057.4(BLM):c.714C>G (p.Ile238Met)	BLM (I238M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 127515	NM_000057.4(BLM):c.715G>A (p.Asp239Asn)	BLM (D239N)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 524760	NM_000057.4(BLM):c.722G>A (p.Gly241Asp)	BLM (G241D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 1188423	NM_000057.4(BLM):c.800-253A>G	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177546	NM_000057.4(BLM):c.800-120T>C	BLM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 127516	NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)	BLM (K273del)	Microsatellite (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 640809	NM_000057.4(BLM):c.820A>G (p.Asn274Asp)	BLM (N274D)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2561114	NM_000057.4(BLM):c.837A>T (p.Glu279Asp)	BLM (E279D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127517	NM_000057.4(BLM):c.842A>C (p.His281Pro)	BLM (H281P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1801163	NM_000057.4(BLM):c.878A>G (p.Asp293Gly)	BLM (D293G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 92397	NM_000057.4(BLM):c.893C>T (p.Thr298Met)	BLM (T298M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 999553	NM_000057.4(BLM):c.913C>T (p.Pro305Ser)	BLM (P305S)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 454170	NM_000057.4(BLM):c.934T>G (p.Ser312Ala)	BLM (S312A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 581582	NM_000057.4(BLM):c.959G>C (p.Ser320Thr)	BLM (S320T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1207542	NM_000057.4(BLM):c.959+187C>T	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220249	NM_000057.4(BLM):c.959+248_959+249dup	BLM	Duplication (intron variant)	not provided	GLikely benign
Select item 1198440	NM_000057.4(BLM):c.959+249dup	BLM	Duplication (intron variant)	not provided	GLikely benign
Select item 1201562	NM_000057.4(BLM):c.960-283T>C	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127518	NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	BLM (K323R)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +4 more	GConflicting classifications of pathogenicity
Select item 188870	NM_000057.4(BLM):c.991_995del (p.Lys331fs)	BLM (K331fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 818238	NM_000057.4(BLM):c.1003C>G (p.Leu335Val)	BLM (L335V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 664386	NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)	BLM (K344N)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 1197065	NM_000057.4(BLM):c.1087+180A>G	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211464	NM_000057.4(BLM):c.1088-277G>A	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290527	NM_000057.4(BLM):c.1088-217_1088-216del	BLM	Deletion (intron variant)	not provided	GBenign
Select item 1222564	NM_000057.4(BLM):c.1088-216del	BLM	Deletion (intron variant)	not provided	GBenign
Select item 1183455	NM_000057.4(BLM):c.1088-218A>G	BLM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195035	NM_000057.4(BLM):c.1088-215G>A	BLM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222844	NM_000057.4(BLM):c.1088-175dup	BLM	Duplication (intron variant)	not provided	GBenign
Select item 1328609	NM_000057.4(BLM):c.1088-176_1088-175del	BLM	Deletion (intron variant)	not provided	GLikely benign
Select item 1283340	NM_000057.4(BLM):c.1088-175del	BLM	Deletion (intron variant)	not provided	GBenign
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 136510	NM_000057.4(BLM):c.1122T>C (p.His374=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 818381	NM_000057.4(BLM):c.1123G>C (p.Val375Leu)	BLM (V375L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 822258	NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)	BLM (I383T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1748566	NM_000057.4(BLM):c.1205A>G (p.Gln402Arg)	BLM (Q27R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485353	NM_000057.4(BLM):c.1209G>C (p.Gln403His)	BLM (Q403H +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
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 127474	NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)	BLM (A421T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 454073	NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)	BLM (L424del +1 more)	Microsatellite (inframe_deletion)	not provided +2 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 127476	NM_000057.4(BLM):c.1348A>G (p.Met450Val)	BLM (M450V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1711889	NM_000057.4(BLM):c.1364T>G (p.Phe455Cys)	BLM (F455C +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance
Select item 182060	NM_000057.4(BLM):c.1385del (p.Ser462fs)	BLM (S462fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 454076	NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)	BLM (G478A +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance
Select item 454080	NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)	BLM (Q497P +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 405326	NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)	BLM (E507K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 566637	NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)	BLM (F520S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 819598	NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)	BLM (T528I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 127477	NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	BLM (N534S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 645228	NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)	BLM (A163P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 572568	NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)	BLM (E544G +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance

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