Related gene-specific medical variations for Gene (Select 83990) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256210	NM_032043.3(BRIP1):c.1628+50T>G	BRIP1, LOC130061360	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 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 3240979	NM_032043.3(BRIP1):c.1762G>T (p.Val588Leu)	BRIP1 (V588L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240978	NM_032043.3(BRIP1):c.2085del (p.Leu695fs)	BRIP1 (L695fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 3240977	NM_032043.3(BRIP1):c.145G>A (p.Gly49Arg)	BRIP1 (G49R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240976	NM_032043.3(BRIP1):c.2233G>T (p.Ala745Ser)	BRIP1 (A745S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240975	NM_032043.3(BRIP1):c.2219A>G (p.Gln740Arg)	BRIP1 (Q740R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240974	NM_032043.3(BRIP1):c.1742_1744del (p.Arg581del)	BRIP1 (R581del)	Deletion (inframe_deletion)	Familial cancer of breast	GUncertain significance
Select item 3240973	NM_032043.3(BRIP1):c.1629-9T>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240972	NM_032043.3(BRIP1):c.2393G>C (p.Arg798Pro)	BRIP1 (R798P)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240970	NM_032043.3(BRIP1):c.812T>A (p.Val271Asp)	BRIP1 (V271D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 3240969	NM_032043.3(BRIP1):c.2143C>T (p.His715Tyr)	BRIP1 (H715Y)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2681849	NM_032043.3(BRIP1):c.554C>T (p.Ala185Val)	BRIP1 (A185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2680343	NM_032043.3(BRIP1):c.1729A>T (p.Lys577Ter)	BRIP1 (K577*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 2680340	NM_032043.3(BRIP1):c.1341-6T>A	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680339	NM_032043.3(BRIP1):c.2576G>A (p.Gly859Glu)	BRIP1 (G859E)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680336	NM_032043.3(BRIP1):c.1140+5G>C	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680335	NM_032043.3(BRIP1):c.180_190del (p.Leu61fs)	BRIP1 (L61fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680332	NM_032043.3(BRIP1):c.2540A>T (p.Asp847Val)	BRIP1 (D847V)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680331	NM_032043.3(BRIP1):c.2671del (p.Val891fs)	BRIP1 (V891fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680329	NM_032043.3(BRIP1):c.3005G>C (p.Trp1002Ser)	BRIP1 (W1002S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680328	NM_032043.3(BRIP1):c.1697A>G (p.Asp566Gly)	BRIP1 (D566G)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680327	NM_032043.3(BRIP1):c.686C>T (p.Ser229Leu)	BRIP1 (S229L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680326	NM_032043.3(BRIP1):c.2132C>T (p.Thr711Ile)	BRIP1 (T711I)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680322	NM_032043.3(BRIP1):c.2134G>A (p.Gly712Ser)	BRIP1 (G712S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680321	NM_032043.3(BRIP1):c.1593dup (p.Met532fs)	BRIP1 (M532fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680320	NM_032043.3(BRIP1):c.3508C>T (p.Leu1170Phe)	BRIP1 (L1170F)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680317	NM_032043.3(BRIP1):c.3737C>G (p.Pro1246Arg)	BRIP1 (P1246R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680316	NM_032043.3(BRIP1):c.2177A>G (p.Glu726Gly)	BRIP1 (E726G)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680314	NM_032043.3(BRIP1):c.1660_1661del (p.Gln554fs)	BRIP1 (Q554fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680312	NM_032043.3(BRIP1):c.2380-29A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680311	NM_032043.3(BRIP1):c.2990C>G (p.Thr997Arg)	BRIP1 (T997R)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2680310	NM_032043.3(BRIP1):c.1132del (p.Arg378fs)	BRIP1 (R378fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680309	NM_032043.3(BRIP1):c.885T>G (p.Asn295Lys)	BRIP1 (N295K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 2580980	NM_032043.3:c.(2492_2493)_(3750_?)del	BRIP1	Deletion	Familial ovarian cancer	GPathogenic
Select item 2576311	NM_032043.3(BRIP1):c.1628+46A>C	BRIP1, LOC130061360	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2445403	NM_032043.3(BRIP1):c.797C>A (p.Thr266Lys)	BRIP1 (T266K)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2429339	NC_000017.10:g.(?_59870952)_(59886124_?)dup	BRIP1	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2429338	NC_000017.10:g.(59861786_59870957)_(59886119_59924461)dup	BRIP1	Duplication	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1809550	NM_032043.3(BRIP1):c.575C>G (p.Thr192Ser)	BRIP1 (T192S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809520	NM_032043.3(BRIP1):c.380-1G>T	BRIP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1807999	GRCh37/hg19 17q23.2(chr17:59731311-59803110)x1	BRIP1	Copy number loss	not provided	GUncertain significance
Select item 1803771	NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)	BRIP1 (S123*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GUncertain significance
Select item 1803770	NM_032043.3(BRIP1):c.318del (p.His107fs)	BRIP1 (H107fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 1749548	NM_032043.2:c.577_578insALU	BRIP1	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1319605	NM_032043.3(BRIP1):c.2906-2del	BRIP1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1216817	NM_032043.3(BRIP1):c.1628+83T>C	BRIP1, LOC130061360	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1208113	NM_032043.3(BRIP1):c.1628+104T>C	BRIP1, LOC130061360	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1066776	NC_000017.10:g.(?_59878633)_59883038del	BRIP1	Deletion	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1065536	NM_032043.2:c.(627+1_628-1)_(1473+1_1474-1)dup	BRIP1	Duplication	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 873415	NM_032043.3(BRIP1):c.2765T>C (p.Leu922Ser)	BRIP1 (L922S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 686897	GRCh37/hg19 17q23.2(chr17:59854156-59864085)x1	BRIP1	Copy number loss	not provided	GUncertain significance
Select item 634793	NM_032043.3(BRIP1):c.2379G>T (p.Gln793His)	BRIP1 (Q793H)	Single nucleotide variant (missense variant)	Ovarian neoplasm	GLikely pathogenic
Select item 619665	NM_032043.2(BRIP1):c.628-?_1473+?dup	BRIP1	Duplication	not provided	GUncertain significance
Select item 592070	NM_032043.3(BRIP1):c.1323_1329del (p.Cys442fs)	BRIP1 (C442fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 560878	NM_032043.3(BRIP1):c.2397A>G (p.Gln799=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 254030	NM_032043.2(BRIP1):c.2493-?_2575+?dup	BRIP1	Duplication	Familial cancer of breast +1 more	GLikely pathogenic
Select item 224938	NM_032043.2(BRIP1):c.505_506insAlu	BRIP1	Insertion	Familial cancer of breast	GLikely pathogenic
Select item 223614	NM_032043.3(BRIP1):c.628-7768T>G	BRIP1, LOC110120932	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223612	NM_032043.3(BRIP1):c.628-7464C>T	BRIP1, LOC110120932	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223609	NM_032043.3(BRIP1):c.628-7560C>T	BRIP1, LOC110120932	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223606	NM_032043.3(BRIP1):c.628-7337T>C	BRIP1, LOC110120932	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 219676	NM_032043.2(BRIP1):c.1474-?_1628+?del	BRIP1	Deletion	Familial cancer of breast	GPathogenic

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Items: 77