C0005859[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 61

	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)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
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 667391	NM_000057.4(BLM):c.98+1G>C	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 370200	NM_000057.4(BLM):c.98+1G>T	BLM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 485329	NM_000057.4(BLM):c.264C>A (p.Asp88Glu)	BLM (D88E)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 127493	NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	BLM (N92D)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 127503	NM_000057.4(BLM):c.368A>G (p.Gln123Arg)	BLM (Q123R)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 405327	NM_000057.4(BLM):c.488C>T (p.Ser163Phe)	BLM (S163F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 664539	NM_000057.4(BLM):c.709del (p.Cys237fs)	BLM (C237fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 127516	NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)	BLM (K273del)	Microsatellite (inframe_deletion +1 more)	Bloom syndrome +2 more	GUncertain significance
Select item 127517	NM_000057.4(BLM):c.842A>C (p.His281Pro)	BLM (H281P)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +4 more	GUncertain significance
Select item 1616809	NM_000057.4(BLM):c.959+17A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome	GLikely benign
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 371550	NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)	BLM	Duplication (nonsense +1 more)	Bloom syndrome	GPathogenic/Likely 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 454065	NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)	BLM (H378Y +1 more)	Indel (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 485334	NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)	BLM (E399K +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 818776	NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)	BLM (S51L +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 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 1068806	NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)	BLM (K123* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 42064	NM_000057.4(BLM):c.1544dup (p.Asn515fs)	BLM (N515fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 127478	NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)	BLM (Q548* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +3 more	GPathogenic
Select item 454091	NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)	BLM (Q645* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +3 more	GPathogenic
Select item 223543	NM_000057.4(BLM):c.2075-12G>T	BLM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 454094	NM_000057.4(BLM):c.2115T>C (p.Val705=)	BLM	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 841228	NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)	BLM (G739S +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
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 820996	NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)	BLM (D382E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 405291	NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	BLM (N407fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 845042	NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	BLM	Microsatellite (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 454100	NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)	BLM (Y784C +1 more)	Single nucleotide variant (missense variant)	Bloom 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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 405315	NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)	BLM (Y811C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 524784	NM_000057.4(BLM):c.2480T>A (p.Met827Lys)	BLM (M827K +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 281221	NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)	BLM (K839E +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 497247	NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)	BLM (Q851R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GUncertain significance
Select item 220018	NM_000057.4(BLM):c.2580_2581del (p.His860fs)	BLM (H485fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 405297	NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)	BLM (K873N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 485341	NM_000057.4(BLM):c.2674A>G (p.Ile892Val)	BLM (I892V +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance
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 850920	NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)	BLM (W559* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1510894	NM_000057.4(BLM):c.2823+2T>A	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 405266	NM_000057.4(BLM):c.2875C>T (p.Arg959Ter)	BLM (R959* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +1 more	GPathogenic
Select item 822402	NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)	BLM (F617S +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 189048	NM_000057.4(BLM):c.3028del (p.Asp1010fs)	BLM (D1010fs +1 more)	Deletion (frameshift variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 136516	NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)	BLM (A1043D +1 more)	Single nucleotide variant (missense variant)	Bloom 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)	Bloom syndrome +1 more	GPathogenic
Select item 127497	NM_000057.4(BLM):c.3210+2del	BLM	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 236811	NM_000057.4(BLM):c.3210+4A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524818	NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)	BLM (R1139Q +1 more)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 524814	NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)	BLM (A1169T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 485360	NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)	BLM (T1179I +1 more)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 567289	NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)	BLM (K1186E +1 more)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127504	NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)	BLM (E1251Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 317411	NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)	BLM (A1276E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127507	NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)	BLM (R1331G +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127510	NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)	BLM (T1371M +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 658251	NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)	BLM (N1018D +2 more)	Single nucleotide variant (missense variant)	Bloom syndrome +2 more	GUncertain significance

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Items: 61