List of variants

Gene coding change (c.) protein change (p.) ClinVar Name ClinVarID Forum Url Notes
ATM c.3402+3A>G NM_000051.3(ATM):c.3402+3A>G 187380 The variant is mentioned once by a one forum user here
BRCA1 c.1018C>T p.Arg340Ter NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) 17675 Also called p.R1443X:CGA>TGA and 4446C>T
BRCA1 c.135-62T>C This variant is mentioned once by one forum user here
BRCA1 c.1687C>T p.Gln563Ter NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) 37426
BRCA1 c.1874_1877dup p.Val627Serfs*4 NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) 54376 Also known as 1996ins4
BRCA1 c.213-11T>C NM_007299.4(BRCA1):c.213-11T>G 37449 Variant also known as IVS5-11T>G
BRCA1 c.2338C>T p.Gln780Ter NM_007300.4(BRCA1):c.2338C>T (p.Gln780Ter) 54540 also called 2457C>T
BRCA1 c.2869C>T p.Gln957Ter NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter) 54703
BRCA1 c.3768_3769AG p.Glu1257fs NM_007294.3(BRCA1):c.3768_3769AG[1] (p.Glu1257fs) 37546 Also known as 3889delAG and 3888delGA
BRCA1 c.4357+1G>A NM_007294.3(BRCA1):c.4357+1G>A 37584 Also known as IVS13+1G>A
BRCA1 c.5096G>A p.Arg1699Gln NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) 37636
BRCA1 c.5277+1G>A NM_007299.4(BRCA1):c.1965+1G>A 37654
BRCA1 c.53T>A p.Met18Lys NM_007294.3(BRCA1):c.53T>A (p.Met18Lys) 70226 FORCE "Share your Mutation"
BRCA1 c.5406+4_5406+7delAGTA PMID: 30374176 531285
BRCA1 c.68_69delAG p.Glu23Valfs NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) 17662 FORCE "share your mutation"
BRCA1 c.798_799del p.Ser267fs NM_007294.3(BRCA1):c.798_799del (p.Ser267fs) 37698 also known as 917delTT and 916delTT
BRCA1 del exon 1-7
BRCA1 del exon 21
BRCA2 c.1189_1190insTTAG p.Gln397Leufs NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397Leufs) 51080 FORCE "Share Your Mutation" forum
BRCA2 c.316+5G>A NM_000059.3(BRCA2):c.316+5G>A 51409
BRCA2 c.36dupT p.Glu13Terfs NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs) 66177 FORCE "Share your mutation"
BRCA2 c.5073dupA p.Trp1692Metfs NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) 37943
BRCA2 c.5303_5304delTT p.Leu1768Argfs NM_000059.3(BRCA2):c.5303_5304delTT (p.Leu1768Argfs) 37957 FORCE "Share your Mutation" forum
BRCA2 c.538_539dupAT p.Ser181Phefs NM_000059.3(BRCA2):c.538_539dupAT (p.Ser181Phefs) 51851 This is a FORCE "Share your mutation" forum
BRCA2 c.5614A>T p.Lys1872Ter NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter) 37979
BRCA2 c.5946delT p.Ser1982Argfs NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) 9325
BRCA2 c.67+1G>A NM_000059.3(BRCA2):c.67+1G>A 66828 FORCE "share your variant" forum
BRCA2 c.6757_6758delCT p.Leu2253fs NM_000059.3(BRCA2):c.6755_6756CT[1] (p.Leu2253fs) 52177 Also known as 6985delCT and c.6755_6756CT
BRCA2 c.7007G>C p.Arg2336Pro NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro) 66909 FORCE "Share Your Mutation" forum
BRCA2 c.7069_7070del p.Leu2357fs NM_000059.3(BRCA2):c.7069_7070del (p.Leu2357fs) 38082
BRCA2 c.7976G>A p.Arg2659Lys NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) 38131 FORCE "Share Your Mutation" forum
BRCA2 c.8953+1G>T NM_000059.3(BRCA2):c.8953+1G>T 38198
BRCA2 c.9097del p.Thr3033fs NM_000059.3(BRCA2):c.9097del (p.Thr3033fs) 38209 Also known as 9325delA
BRCA2 c.9182T>A p.Leu3061Ter NM_000059.3(BRCA2):c.9182T>A (p.Leu3061Ter) 52769
BRIP1 c.2392C>T p.Arg798Ter 4738 Also known as R798*
BRIP1 c:341C>A p.Pro114GIn NM_032043.2(BRIP1):c.341C>A (p.Pro114Gln) 407838
PALB2 c.172_175delTTGT p.Gln60Argfs*7 NM_024675.3(PALB2):c.172_175delTTGT 126623 also known as 172_175delTTGT
PALB2 c.3549C>G p.Y1183* NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) 1245 PALB2 c.3549C>A is a different variant that also creates the same protein change (same p. identifier)
PALB2 c.757-758delCT NM_024675.3(PALB2):c.757_758delCT 126768