ClinVar for PMC (Select 3039391) - ClinVar

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Links from PMC

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242958	NC_000017.10:g.(?_59722701)_(59807862_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242955	NC_000017.10:g.(?_59760657)_(59761521_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2954480	NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)	BRIP1 (L1008fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2951171	NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)	BRIP1 (S990fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2949408	NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)	BRIP1 (S1109*)	Insertion (nonsense)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2949081	NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)	BRIP1 (L974fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2945161	NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)	BRIP1	Deletion (nonsense)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2942119	NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)	BRIP1 (V1046fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2929483	NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)	BRIP1 (R999*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2922394	NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)	BRIP1 (S1063fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2774983	NM_032043.3(BRIP1):c.3219del (p.Ile1074fs)	BRIP1 (I1074fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2774981	NM_032043.3(BRIP1):c.3362_3363del (p.Asp1120_Phe1121insTer)	BRIP1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2427001	NC_000017.10:g.(?_59760657)_(59761511_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2426999	NC_000017.10:g.(?_59760657)_(59934602_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2426998	NC_000017.10:g.(?_59760657)_(59763536_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2140829	NM_032043.3(BRIP1):c.2899del (p.Glu967fs)	BRIP1 (E967fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2108649	NM_032043.3(BRIP1):c.2982del (p.Asn994fs)	BRIP1 (N994fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2032128	NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)	BRIP1 (K1040fs)	Microsatellite (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2027309	NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)	BRIP1 (Q1010*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2016472	NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)	BRIP1 (W1002*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1713219	NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)	BRIP1 (T1133fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1517122	NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs)	BRIP1 (L1008fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1511429	NM_032043.3(BRIP1):c.2978dup (p.Asn994fs)	BRIP1 (N994fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1507088	NM_032043.3(BRIP1):c.3053del (p.Lys1018fs)	BRIP1 (K1018fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1494382	NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)	BRIP1 (E1097*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1466208	NM_032043.3(BRIP1):c.3039del (p.Gly1014fs)	BRIP1 (G1014fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1459362	NC_000017.10:g.(?_59760657)_(59871100_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 1458463	NC_000017.10:g.(?_59760657)_(59770883_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 1355473	NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs)	BRIP1 (L1008fs)	Insertion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1172147	NM_032043.3(BRIP1):c.3304_3305dup (p.Asp1102fs)	BRIP1 (D1102fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1067947	NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs)	BRIP1 (S1129fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 955824	NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs)	BRIP1 (I1130fs)	Insertion (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 935832	NM_032043.3(BRIP1):c.3127del (p.Ser1043fs)	BRIP1 (S1043fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 862534	NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)	BRIP1 (S1056*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 832543	NC_000017.11:g.(?_61683296)_(61716073_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 823656	NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)	BRIP1 (D1120fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 823225	NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)	BRIP1	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 822804	NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)	BRIP1 (S1025*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 649056	NC_000017.11:g.(?_61683286)_(61693522_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 648600	NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter)	BRIP1 (N1006*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 629477	NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)	BRIP1 (E1124fs)	Deletion (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 583952	NC_000017.11:g.(?_61683286)_(61716073_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 583468	NC_000017.11:g.(?_61683290)_(61684146_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 545997	NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)	BRIP1 (Q1114*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 530336	NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)	BRIP1 (E1104*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 530304	NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)	BRIP1 (L1077*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 530293	NM_032043.3(BRIP1):c.2792del (p.Pro931fs)	BRIP1 (P931fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 491456	NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)	BRIP1 (A926V)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 461046	NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	BRIP1 (S1070fs)	Deletion (frameshift variant)	not provided +4 more	GLikely pathogenic
Select item 461045	NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)	BRIP1 (S1025fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +3 more	GLikely pathogenic
Select item 407865	NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)	BRIP1 (E1110*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 407856	NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)	BRIP1 (S1070*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 324348	NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	BRIP1 (A1081fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 241648	NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	BRIP1	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 232062	NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)	BRIP1 (N1087fs)	Duplication (frameshift variant)	Familial cancer of breast +2 more	GLikely pathogenic
Select item 229712	NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	BRIP1 (Y1131fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic
Select item 220899	NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)	BRIP1 (P1134fs)	Deletion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 187416	NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	BRIP1 (K998fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 186406	NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)	BRIP1 (K1078*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 182367	NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)	BRIP1 (S1066fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely pathogenic

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Items: 60