ClinVar Miner

Variants from Leiden Open Variation Database

Location: Netherlands  Primary collection method: curation
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
893 125 603 236 68 1925

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PALB2 124 12 261 105 43 545
FANCA 295 4 74 1 0 374
PRPH2 108 97 56 10 3 274
BRIP1 19 2 66 1 21 109
SLX4 10 0 0 99 0 109
FANCA, ZNF276 57 2 18 0 0 77
FANCG 41 1 10 0 0 52
RAD51C 18 3 17 11 0 49
AOPEP, FANCC 15 0 15 2 0 32
XRCC2 1 0 28 1 0 30
FANCB 18 0 4 6 0 28
FANCC 18 0 9 0 0 27
FANCD2, LOC107303338 24 0 3 0 0 27
FANCI 24 1 2 0 0 27
​intergenic 24 0 0 0 0 24
FANCE 5 0 17 0 0 22
FANCA, LOC130059837 13 1 1 0 0 15
ERCC4 5 0 8 0 0 13
FANCA, LOC112486223 9 1 1 0 0 11
FANCF 8 0 1 0 0 9
ZNF469 9 0 0 0 0 9
FANCA, LOC132090450 6 0 2 0 0 8
FANCL 7 0 0 0 0 7
FANCD2, FANCD2OS 5 0 1 0 0 6
FANCD2 5 0 0 0 0 5
FANCE, LOC129996245 2 0 3 0 0 5
FANCA, LOC112486223, LOC130059839 4 0 0 0 0 4
UBE2T 4 0 0 0 0 4
FANCA, LOC132090445, ZNF276 2 0 0 0 0 2
FANCC, LOC130002128 1 0 1 0 0 2
FANCG, VCP 2 0 0 0 0 2
LOC129390903, RAD51C 0 0 2 0 0 2
RAD51 1 0 1 0 0 2
RFWD3 2 0 0 0 0 2
APOBR, AQP8, ARHGAP17, ATP2A1, ATXN2L, C16orf82, CACNG3, CD19, CDR2, CHP2, CLN3, COG7, DCTN5, EARS2, EEF2K, EIF3C, EIF3CL, ERN2, GGA2, GSG1L, GTF3C1, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL4R, KATNIP, KDM8, LAT, LCMT1, METTL9, MOSMO, NDUFAB1, NFATC2IP, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NUPR1, OTOA, PALB2, PDZD9, PLK1, POLR3E, PRKCB, RABEP2, RBBP6, SBK1, SCNN1B, SCNN1G, SDR42E2, SGF29, SH2B1, SLC5A11, SPNS1, SULT1A1, SULT1A2, TNRC6A, TUFM, UBFD1, UQCRC2, USP31, VWA3A, XPO6, ZKSCAN2 1 0 0 0 0 1
CDK10, CHMP1A, CPNE7, DPEP1, FANCA, SPATA2L, SPATA33, VPS9D1, ZNF276 0 0 1 0 0 1
DCTN5, PALB2 0 0 0 0 1 1
FANCA, LOC130059837, LOC130059838 1 0 0 0 0 1
FANCI, POLG, POLGARF 1 0 0 0 0 1
FANCL, VRK2 0 1 0 0 0 1
LGR6, UBE2T 1 0 0 0 0 1
LOC112486220, ZNF469 1 0 0 0 0 1
LOC130061310, RAD51C 0 0 1 0 0 1
MAD2L2 1 0 0 0 0 1
PRPH2, UBR2 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 196 107 392 14 7 716
Fanconi anemia complementation group A 419 6 90 1 0 516
Familial cancer of breast 72 7 66 91 17 253
not specified 0 0 0 122 44 166
Fanconi anemia complementation group G 41 1 7 0 0 49
Fanconi anemia complementation group D2 32 0 4 0 0 36
Fanconi anemia complementation group C 33 0 2 0 0 35
Fanconi anemia complementation group I 24 0 2 0 0 26
Fanconi anemia complementation group B 18 0 3 0 0 21
Carcinoma of colon 0 0 19 0 0 19
Fanconi anemia complementation group E 7 0 5 0 0 12
Fanconi anemia complementation group J 10 0 1 0 0 11
Pancreatic cancer, susceptibility to, 3 2 0 8 0 0 10
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 8 0 9
Fanconi anemia complementation group F 8 0 0 0 0 8
Fanconi anemia complementation group P 8 0 0 0 0 8
Neoplasm of ovary 4 0 3 0 0 7
Fanconi anemia complementation group N 6 0 0 0 0 6
Fanconi anemia complementation group T 5 0 0 0 0 5
Fanconi anemia complementation group L 2 1 0 0 0 3
Fanconi anemia complementation group Q 3 0 0 0 0 3
Colorectal cancer 1 0 0 0 0 1
Fanconi anemia complementation group O 1 0 0 0 0 1
Gastric cancer 0 1 0 0 0 1
Retinitis pigmentosa 0 1 0 0 0 1
VACTERL association, X-linked, with or without hydrocephalus 1 0 0 0 0 1
VATER association 1 0 0 0 0 1
Vitelliform macular dystrophy 3 0 1 0 0 0 1

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