"Sema4, Sema4"[submitter] AND "BLM"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 454171	NM_000057.4(BLM):c.99-9A>T	BLM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 136507	NM_000057.4(BLM):c.174T>C (p.Pro58=)	BLM	Single nucleotide variant (synonymous variant +1 more)	BLM-related condition +3 more	GBenign/Likely benign
Select item 133710	NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	BLM (L60I)	Single nucleotide variant (missense variant +1 more)	BLM-related condition +5 more	GConflicting classifications of pathogenicity
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 191064	NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	BLM (E69K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524758	NM_000057.4(BLM):c.208G>A (p.Asp70Asn)	BLM (D70N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127488	NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	BLM (R85T)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 454111	NM_000057.4(BLM):c.261G>A (p.Lys87=)	BLM	Single nucleotide variant (synonymous 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)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 1692090	NM_000057.4(BLM):c.390A>G (p.Lys130=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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 136508	NM_000057.4(BLM):c.465T>C (p.Asp155=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 645121	NM_000057.4(BLM):c.485C>T (p.Thr162Ile)	BLM (T162I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 specified +3 more	GUncertain significance
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)	not provided +2 more	GConflicting classifications of pathogenicity
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 827040	NM_000057.4(BLM):c.742A>T (p.Ile248Leu)	BLM (I248L)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 254781	NM_000057.4(BLM):c.759G>A (p.Gln253=)	BLM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 568392	NM_000057.4(BLM):c.763A>G (p.Ser255Gly)	BLM (S255G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 413285	NM_000057.4(BLM):c.780T>C (p.Thr260=)	BLM	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 1440369	NM_000057.4(BLM):c.790G>A (p.Asp264Asn)	BLM (D264N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 454166	NM_000057.4(BLM):c.816G>A (p.Lys272=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 759729	NM_000057.4(BLM):c.882T>C (p.Asp294=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +1 more	GLikely benign
Select item 92397	NM_000057.4(BLM):c.893C>T (p.Thr298Met)	BLM (T298M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 454168	NM_000057.4(BLM):c.918A>G (p.Glu306=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 485358	NM_000057.4(BLM):c.931G>T (p.Ala311Ser)	BLM (A311S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127518	NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	BLM (K323R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +4 more	GConflicting classifications of pathogenicity
Select item 454060	NM_000057.4(BLM):c.1027T>G (p.Ser343Ala)	BLM (S343A)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 1020224	NM_000057.4(BLM):c.1063C>G (p.Pro355Ala)	BLM (P355A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 236799	NM_000057.4(BLM):c.1086C>T (p.Asp362=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127472	NM_000057.4(BLM):c.1097T>C (p.Ile366Thr)	BLM (I366T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1102312	NM_000057.4(BLM):c.1266T>C (p.Ser422=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 524839	NM_000057.4(BLM):c.1305T>C (p.Leu435=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 127475	NM_000057.4(BLM):c.1315A>G (p.Met439Val)	BLM (M439V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 819161	NM_000057.4(BLM):c.1412C>T (p.Thr471Ile)	BLM (T96I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 454076	NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)	BLM (G478A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 236801	NM_000057.4(BLM):c.1467G>A (p.Arg489=)	BLM	Single nucleotide variant (synonymous variant)	not specified +3 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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 702265	NM_000057.4(BLM):c.1536A>G (p.Gly512=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 1448501	NM_000057.4(BLM):c.1589T>C (p.Val530Ala)	BLM (V530A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127477	NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	BLM (N534S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 662763	NM_000057.4(BLM):c.1630G>A (p.Glu544Lys)	BLM (E544K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127478	NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	BLM (Q548* +1 more)	Single nucleotide variant (nonsense)	BLM-related condition +3 more	GPathogenic
Select item 1691985	NM_000057.4(BLM):c.1775C>T (p.Pro592Leu)	BLM (P217L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 133714	NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)	BLM (Y626F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127480	NM_000057.4(BLM):c.1928G>A (p.Arg643His)	BLM (R643H +1 more)	Single nucleotide variant (missense variant)	BLM-related condition +4 more	GConflicting classifications of pathogenicity
Select item 820404	NM_000057.4(BLM):c.1953T>C (p.His651=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1691988	NM_000057.4(BLM):c.2075G>T (p.Gly692Val)	BLM (G317V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1143347	NM_000057.4(BLM):c.2103C>A (p.Leu701=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 127482	NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	BLM (P707S +1 more)	Single nucleotide variant (missense variant)	BLM-related condition +4 more	GConflicting classifications of pathogenicity
Select item 567134	NM_000057.4(BLM):c.2171T>C (p.Val724Ala)	BLM (V724A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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	GConflicting classifications of pathogenicity
Select item 405325	NM_000057.4(BLM):c.2237C>T (p.Ala746Val)	BLM (A746V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 413289	NM_000057.4(BLM):c.2241A>G (p.Thr747=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 133697	NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	BLM (K755E +1 more)	Single nucleotide variant (missense variant)	BLM-related condition +5 more	GConflicting classifications of pathogenicity
Select item 136514	NM_000057.4(BLM):c.2268A>G (p.Lys756=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 820996	NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)	BLM (D382E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 454099	NM_000057.4(BLM):c.2293G>A (p.Val765Ile)	BLM (V765I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 651082	NM_000057.4(BLM):c.2307+5G>A	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GUncertain significance
Select item 127484	NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	BLM (S778C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1692016	NM_000057.4(BLM):c.2341G>A (p.Glu781Lys)	BLM (E406K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 454100	NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)	BLM (Y784C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 133698	NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	BLM (R791C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 42071	NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)	BLM (R836fs +1 more)	Deletion (frameshift variant)	BLM-related condition +3 more	GPathogenic
Select item 584891	NM_000057.4(BLM):c.2556-8T>C	BLM	Single nucleotide variant (intron variant)	Hereditary cancer +2 more	GConflicting classifications of pathogenicity
Select item 236805	NM_000057.4(BLM):c.2604G>A (p.Pro868=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 454112	NM_000057.4(BLM):c.2662T>C (p.Tyr888His)	BLM (Y888H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 413291	NM_000057.4(BLM):c.2691C>T (p.Ser897=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 127491	NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	BLM (R899* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 524842	NM_000057.4(BLM):c.2709C>T (p.Thr903=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 317407	NM_000057.4(BLM):c.2739C>T (p.Leu913=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 454116	NM_000057.4(BLM):c.2744C>T (p.Ala915Val)	BLM (A915V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1692052	NM_000057.4(BLM):c.2755C>T (p.His919Tyr)	BLM (H544Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 524782	NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)	BLM (N936D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 236807	NM_000057.4(BLM):c.2838A>G (p.Thr946=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related condition +3 more	GConflicting classifications of pathogenicity
Select item 454121	NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	BLM (I947V +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 413288	NM_000057.4(BLM):c.2868G>A (p.Pro956=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1038550	NM_000057.4(BLM):c.2893T>A (p.Ser965Thr)	BLM (S590T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 413298	NM_000057.4(BLM):c.2898C>G (p.Leu966=)	BLM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291113	NM_000057.4(BLM):c.2919C>T (p.Tyr973=)	BLM	Single nucleotide variant (synonymous variant)	BLM-related condition +4 more	GConflicting classifications of pathogenicity
Select item 759198	NM_000057.4(BLM):c.3039T>C (p.His1013=)	BLM	Single nucleotide variant (synonymous variant)	Bloom syndrome +1 more	GLikely benign
Select item 236810	NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	BLM (H1014R +1 more)	Single nucleotide variant (missense variant)	BLM-related condition +4 more	GConflicting classifications of pathogenicity
Select item 127494	NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)	BLM (T1015I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 136516	NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	BLM (A1043D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 42078	NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)	BLM (C1055S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 524824	NM_000057.4(BLM):c.3195T>C (p.Asn1065=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 127496	NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)	BLM (C1067Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485333	NM_000057.4(BLM):c.3225A>G (p.Arg1075=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 1061708	NM_000057.4(BLM):c.3228T>G (p.Asp1076Glu)	BLM (D1076E +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 454131	NM_000057.4(BLM):c.3229G>A (p.Val1077Met)	BLM (V1077M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 236815	NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)	BLM (G1104S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 454137	NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)	BLM (G1120R +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance
Select item 136517	NM_000057.4(BLM):c.3359-13A>G	BLM	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

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