C0005859[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558084	NM_000057.4(BLM):c.1A>C (p.Met1Leu)	BLM (M1L)	Single nucleotide variant (missense variant +2 more)	Bloom syndrome	GLikely pathogenic
Select item 370566	NM_000057.4(BLM):c.2T>C (p.Met1Thr)	BLM (M1T)	Single nucleotide variant (missense variant +2 more)	Bloom syndrome +1 more	GLikely pathogenic
Select item 405286	NM_000057.4(BLM):c.24T>G (p.Asn8Lys)	BLM (N8K)	Single nucleotide variant (missense variant +1 more)	Bloom syndrome	GUncertain significance
Select item 550724	NM_000057.4(BLM):c.98+3_98+6del	BLM	Deletion (splice donor variant)	Bloom syndrome +1 more	GUncertain significance
Select item 552717	NM_000057.4(BLM):c.99-1G>C	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 554748	NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)	BLM	Insertion (inframe_insertion +1 more)	Bloom syndrome +1 more	GUncertain significance
Select item 405300	NM_000057.4(BLM):c.204C>A (p.Thr68=)	BLM	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 +2 more	GConflicting classifications of pathogenicity
Select item 553890	NM_000057.4(BLM):c.228_233del (p.Leu77_Pro78del)	BLM	Deletion (inframe_deletion +1 more)	Bloom syndrome	GUncertain significance
Select item 552104	NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)	BLM (F90del)	Microsatellite (inframe_deletion +1 more)	Bloom syndrome +1 more	GUncertain significance
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 555017	NM_000057.4(BLM):c.318ATT[1] (p.Leu108del)	BLM (L108del)	Microsatellite (inframe_deletion +1 more)	Bloom syndrome	GUncertain significance
Select item 370185	NM_000057.4(BLM):c.443dup (p.Leu148fs)	BLM (L148fs)	Duplication (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 557304	NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer)	BLM	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557594	NM_000057.4(BLM):c.483_491del (p.Asp161_Ser163del)	BLM	Deletion (inframe_deletion +1 more)	Bloom syndrome	GUncertain significance
Select item 555794	NM_000057.4(BLM):c.489_497dup (p.Glu164_Ser166dup)	BLM	Duplication (inframe_insertion +1 more)	Bloom syndrome	GUncertain significance
Select item 558239	NM_000057.4(BLM):c.543del (p.Ser181fs)	BLM (S181fs)	Deletion (frameshift variant +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 553925	NM_000057.4(BLM):c.608_609del (p.Thr203fs)	BLM (T203fs)	Microsatellite (frameshift variant +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 371382	NM_000057.4(BLM):c.662_665del (p.Thr221fs)	BLM (T221fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 550709	NM_000057.4(BLM):c.678_680dup (p.Asp227dup)	BLM	Duplication (inframe_insertion +1 more)	Bloom syndrome	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 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 558268	NM_000057.4(BLM):c.942del (p.Ser315fs)	BLM (S315fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	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 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 371550	NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer)	BLM	Duplication (nonsense +1 more)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 558503	NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)	BLM (T357I)	Single nucleotide variant (5 prime UTR variant +1 more)	Bloom syndrome	GUncertain significance
Select item 371130	NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer)	BLM	Microsatellite (nonsense +1 more)	Bloom syndrome +1 more	GPathogenic/Likely 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 550135	NM_000057.4(BLM):c.1114del (p.Ile373fs)	BLM (I373fs)	Deletion (frameshift variant +1 more)	Bloom syndrome	GLikely pathogenic
Select item 553472	NM_000057.4(BLM):c.1151del (p.Asp384fs)	BLM (D384fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 555112	NM_000057.4(BLM):c.1210del (p.Arg404fs)	BLM (R29fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 553329	NM_000057.4(BLM):c.1220+1G>A	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 371048	NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)	BLM (W428* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GPathogenic/Likely pathogenic
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 554680	NM_000057.4(BLM):c.1316del (p.Met439fs)	BLM (M439fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
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 236802	NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)	BLM (P490R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 552980	NM_000057.4(BLM):c.1549dup (p.Ser517fs)	BLM (S142fs +1 more)	Duplication (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 558622	NM_000057.4(BLM):c.1624G>T (p.Asp542Tyr)	BLM (D542Y +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 550976	NM_000057.4(BLM):c.1634_1639del (p.Arg545_Glu546del)	BLM	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 370265	NM_000057.4(BLM):c.1720_1735del (p.Ala575fs)	BLM (A200fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 371432	NM_000057.4(BLM):c.1722_1725delinsGGC (p.Ala576fs)	BLM (A201fs +1 more)	Indel (frameshift variant)	Bloom syndrome	GLikely 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 555356	NM_000057.4(BLM):c.1752del (p.Gln585fs)	BLM (Q585fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 371040	NM_000057.4(BLM):c.1764_1777del (p.Lys588fs)	BLM (K588fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 371640	NM_000057.4(BLM):c.1795del (p.Arg599fs)	BLM (R224fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 553374	NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)	BLM (D606fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 552729	NM_000057.4(BLM):c.1883-2A>G	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 405319	NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)	BLM (N638S +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
Select item 550987	NM_000057.4(BLM):c.1964TGA[1] (p.Met656del)	BLM (M656del +1 more)	Microsatellite (inframe_deletion)	Bloom syndrome	GUncertain significance
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 71979	NM_000057.4(BLM):c.1978C>T (p.His660Tyr)	BLM (H660Y +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
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 454092	NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)	BLM (P690L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 42066	NM_000057.4(BLM):c.2074+1G>T	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely 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 524799	NM_000057.4(BLM):c.2150G>C (p.Arg717Thr)	BLM (R717T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome	GUncertain significance
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 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 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 405291	NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)	BLM (N407fs +1 more)	Microsatellite (frameshift variant)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550791	NM_000057.4(BLM):c.2349_2350dup (p.Tyr784fs)	BLM (Y409fs +1 more)	Microsatellite (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 133698	NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	BLM (R791C +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 553289	NM_000057.4(BLM):c.2407-9del	BLM	Deletion (intron variant)	Bloom syndrome	GConflicting classifications of pathogenicity
Select item 454103	NM_000057.4(BLM):c.2407-7del	BLM	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 552186	NM_000057.4(BLM):c.2407-1G>A	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 42177	NM_000057.4(BLM):c.2407dup (p.Trp803fs)	BLM (W428fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
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 557075	NM_000057.4(BLM):c.2555+1G>T	BLM	Single nucleotide variant (splice donor variant)	Bloom syndrome	GLikely pathogenic
Select item 127491	NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)	BLM (R899* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 370390	NM_000057.4(BLM):c.2720_2726del (p.Thr907fs)	BLM (T532fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 127492	NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	BLM (T907M +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +3 more	GUncertain significance
Select item 555647	NM_000057.4(BLM):c.2807del (p.Asn936fs)	BLM (N936fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 370702	NM_000057.4(BLM):c.2821C>T (p.Gln941Ter)	BLM (Q941* +1 more)	Single nucleotide variant (nonsense)	Bloom syndrome	GLikely pathogenic
Select item 371621	NM_000057.4(BLM):c.2824-2A>T	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome +1 more	GLikely pathogenic
Select item 551820	NM_000057.4(BLM):c.2824-1G>C	BLM	Single nucleotide variant (splice acceptor variant)	Bloom syndrome	GLikely pathogenic
Select item 558521	NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)	BLM (I947T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GUncertain significance
Select item 42076	NM_000057.4(BLM):c.2923del (p.Gln975fs)	BLM (Q600fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 556531	NM_000057.4(BLM):c.3016_3017del (p.Met1006fs)	BLM (M631fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 370723	NM_000057.4(BLM):c.3022del (p.Glu1008fs)	BLM (E1008fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GLikely pathogenic
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 454128	NM_000057.4(BLM):c.3113G>C (p.Arg1038Thr)	BLM (R1038T +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 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 549904	NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	BLM (C1055R +1 more)	Single nucleotide variant (missense variant)	Bloom syndrome +1 more	GLikely pathogenic
Select item 236811	NM_000057.4(BLM):c.3210+4A>G	BLM	Single nucleotide variant (intron variant)	Bloom syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551719	NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	BLM (D701fs +1 more)	Deletion (frameshift variant)	Bloom syndrome +2 more	GPathogenic/Likely pathogenic
Select item 236813	NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)	BLM (V1081E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 370126	NM_000057.4(BLM):c.3305_3306del (p.His1102fs)	BLM (H727fs +1 more)	Deletion (frameshift variant)	Bloom syndrome	GPathogenic/Likely pathogenic
Select item 370797	NM_000057.4(BLM):c.3400G>T (p.Gly1134Ter)	BLM (G1134* +1 more)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GLikely pathogenic
Select item 42084	NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs)	BLM (L1159fs +1 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 550553	NM_000057.4(BLM):c.3499del (p.Ala1167fs)	BLM (A1167fs +1 more)	Deletion (frameshift variant +1 more)	Bloom syndrome +1 more	GPathogenic/Likely pathogenic

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