ClinVar for MedGen (Select 323015) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242971	NC_000017.10:g.(?_59878608)_(59878841_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 3242970	NC_000017.10:g.(?_59878594)_(59878855_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242969	NC_000017.10:g.(?_59937175)_(59940147_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242968	NC_000017.10:g.(?_59861717)_(59987228_?)del	BRIP1, INTS2	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242967	NC_000017.10:g.(?_59820354)_(59886138_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 3242966	NC_000017.10:g.(?_59870938)_(59886138_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 3242964	NC_000017.10:g.(?_59853742)_(59926637_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 3242963	NC_000017.10:g.(?_59885808)_(59938900_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 3242962	NC_000017.10:g.(?_59870948)_(59938900_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GUncertain significance
Select item 3242961	NC_000017.10:g.(?_59820364)_(59820505_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 3242960	NC_000017.10:g.(?_59924442)_(59926637_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242959	NC_000017.10:g.(?_59858191)_(59938900_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242958	NC_000017.10:g.(?_59722701)_(59807862_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242957	NC_000017.10:g.(?_59857602)_(59861805_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 3242956	NC_000017.10:g.(?_59878795)_(59946639_?)del	BRIP1, INTS2	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 3242953	NC_000017.10:g.(?_59861611)_(59861805_?)del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2954485	NM_032043.3(BRIP1):c.447T>A (p.Asp149Glu)	BRIP1 (D149E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954481	NM_032043.3(BRIP1):c.507+3A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
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 2954422	NM_032043.3(BRIP1):c.3698A>G (p.Asn1233Ser)	BRIP1 (N1233S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954413	NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954380	NM_032043.3(BRIP1):c.940C>T (p.His314Tyr)	BRIP1 (H314Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954243	NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954144	NM_032043.3(BRIP1):c.1720C>T (p.Pro574Ser)	BRIP1 (P574S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954135	NM_032043.3(BRIP1):c.1628+17A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2954126	NM_032043.3(BRIP1):c.1964C>T (p.Pro655Leu)	BRIP1 (P655L)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2954054	NM_032043.3(BRIP1):c.1935+8G>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953964	NM_032043.3(BRIP1):c.1795-16T>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953944	NM_032043.3(BRIP1):c.1501G>C (p.Glu501Gln)	BRIP1 (E501Q)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953895	NM_032043.3(BRIP1):c.2098-14T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953862	NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953826	NM_032043.3(BRIP1):c.2303_2308del (p.Gly768_Leu769del)	BRIP1	Deletion (inframe_deletion)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953750	NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953447	NM_032043.3(BRIP1):c.627+2_627+9dup	BRIP1	Duplication (splice donor variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2953252	NM_032043.3(BRIP1):c.1341-2A>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2953182	NM_032043.3(BRIP1):c.1058A>G (p.Tyr353Cys)	BRIP1 (Y353C)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953115	NM_032043.3(BRIP1):c.3301C>T (p.Pro1101Ser)	BRIP1 (P1101S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2953072	NM_032043.3(BRIP1):c.1794+2T>G	BRIP1	Single nucleotide variant (splice donor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2953041	NM_032043.3(BRIP1):c.1969G>A (p.Gly657Ser)	BRIP1 (G657S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952981	NM_032043.3(BRIP1):c.2248G>A (p.Gly750Arg)	BRIP1 (G750R)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952873	NM_032043.3(BRIP1):c.918+14T>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952746	NM_032043.3(BRIP1):c.206-15_206-14insTATTATAAATAGAC	BRIP1	Insertion (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952700	NM_032043.3(BRIP1):c.2628T>A (p.Ser876Arg)	BRIP1 (S876R)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952627	NM_032043.3(BRIP1):c.1141-12T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952612	NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952608	NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952515	NM_032043.3(BRIP1):c.97C>G (p.Leu33Val)	BRIP1 (L33V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952416	NM_032043.3(BRIP1):c.1826C>T (p.Thr609Ile)	BRIP1 (T609I)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952308	NM_032043.3(BRIP1):c.327C>T (p.Asn109=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952273	NM_032043.3(BRIP1):c.263G>A (p.Cys88Tyr)	BRIP1 (C88Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952272	NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2952255	NM_032043.3(BRIP1):c.2858C>A (p.Thr953Asn)	BRIP1 (T953N)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2952245	NM_032043.3(BRIP1):c.1007A>T (p.Asp336Val)	BRIP1 (D336V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2952105	NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)	BRIP1	Insertion (inframe_insertion)	Familial cancer of breast +1 more	GPathogenic
Select item 2951914	NM_032043.3(BRIP1):c.2258-9_2258-8dup	BRIP1	Duplication (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951878	NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)	BRIP1 (A395fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2951849	NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951703	NM_032043.3(BRIP1):c.2906-15T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951693	NM_032043.3(BRIP1):c.1141-14C>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951646	NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)	BRIP1 (L701*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2951592	NM_032043.3(BRIP1):c.1795-2del	BRIP1	Deletion (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2951590	NM_032043.3(BRIP1):c.1819G>T (p.Val607Phe)	BRIP1 (V607F)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951579	NM_032043.3(BRIP1):c.2648A>G (p.Glu883Gly)	BRIP1 (E883G)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951469	NM_032043.3(BRIP1):c.2493-3_2493-1del	BRIP1	Deletion (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2951462	NM_032043.3(BRIP1):c.508-10G>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951398	NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG	BRIP1	Insertion (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2951385	NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)	BRIP1 (N101fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2951370	NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951300	NM_032043.3(BRIP1):c.1291del (p.Arg431fs)	BRIP1 (R431fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2951290	NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951212	NM_032043.3(BRIP1):c.2693A>G (p.Asp898Gly)	BRIP1 (D898G)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951209	NM_032043.3(BRIP1):c.2504A>G (p.His835Arg)	BRIP1 (H835R)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951176	NM_032043.3(BRIP1):c.2379+13A>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951172	NM_032043.3(BRIP1):c.2753C>G (p.Thr918Ser)	BRIP1 (T918S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951171	NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)	BRIP1 (S990fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2951144	NM_032043.3(BRIP1):c.283T>G (p.Phe95Val)	BRIP1 (F95V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951134	NM_032043.3(BRIP1):c.3618T>C (p.Ile1206=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951124	NM_032043.3(BRIP1):c.2906-18A>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951108	NM_032043.3(BRIP1):c.516A>G (p.Lys172=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2951069	NM_032043.3(BRIP1):c.3449C>T (p.Ala1150Val)	BRIP1 (A1150V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2951020	NM_032043.3(BRIP1):c.2492+13A>T	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2950995	NM_032043.3(BRIP1):c.1153C>T (p.Leu385=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2950990	NM_032043.3(BRIP1):c.2600A>C (p.Gln867Pro)	BRIP1 (Q867P)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 2950702	NM_032043.3(BRIP1):c.992T>A (p.Met331Lys)	BRIP1 (M331K)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950606	NM_032043.3(BRIP1):c.3082A>G (p.Asn1028Asp)	BRIP1 (N1028D)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950566	NM_032043.3(BRIP1):c.1987A>T (p.Thr663Ser)	BRIP1 (T663S)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950379	NM_032043.3(BRIP1):c.3124G>A (p.Glu1042Lys)	BRIP1 (E1042K)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950223	NM_032043.3(BRIP1):c.2953A>G (p.Ile985Val)	BRIP1 (I985V)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950204	NM_032043.3(BRIP1):c.2379+18T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2950154	NM_032043.3(BRIP1):c.3356G>C (p.Arg1119Thr)	BRIP1 (R1119T)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950150	NM_032043.3(BRIP1):c.211C>A (p.Pro71Thr)	BRIP1 (P71T)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2950110	NM_032043.3(BRIP1):c.627+6T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2949997	NM_032043.3(BRIP1):c.1128A>G (p.Gln376=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2949825	NM_032043.3(BRIP1):c.2169del (p.Ile724fs)	BRIP1 (I724fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2949790	NM_032043.3(BRIP1):c.3641A>C (p.Lys1214Thr)	BRIP1 (K1214T)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2949778	NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2949684	NM_032043.3(BRIP1):c.1799T>A (p.Phe600Tyr)	BRIP1 (F600Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 2949603	NM_032043.3(BRIP1):c.1341-19T>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign
Select item 2949602	NM_032043.3(BRIP1):c.507+19C>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +1 more	GLikely benign

<< First< Prev

Page of 10