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NM_007294.4(BRCA1):c.81-12del AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Feb 2, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000077184.9

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-12del]

NM_007294.4(BRCA1):c.81-12del

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.81-12del
HGVS:
  • NC_000017.11:g.43115797del
  • NG_005905.2:g.102193del
  • NM_001407571.1:c.-108-12del
  • NM_001407581.1:c.81-12del
  • NM_001407582.1:c.81-12del
  • NM_001407583.1:c.81-12del
  • NM_001407585.1:c.81-12del
  • NM_001407587.1:c.81-12del
  • NM_001407590.1:c.81-12del
  • NM_001407591.1:c.81-12del
  • NM_001407593.1:c.81-12del
  • NM_001407594.1:c.81-12del
  • NM_001407596.1:c.81-12del
  • NM_001407597.1:c.81-12del
  • NM_001407598.1:c.81-12del
  • NM_001407602.1:c.81-12del
  • NM_001407603.1:c.81-12del
  • NM_001407605.1:c.81-12del
  • NM_001407610.1:c.81-12del
  • NM_001407611.1:c.81-12del
  • NM_001407612.1:c.81-12del
  • NM_001407613.1:c.81-12del
  • NM_001407614.1:c.81-12del
  • NM_001407615.1:c.81-12del
  • NM_001407616.1:c.81-12del
  • NM_001407617.1:c.81-12del
  • NM_001407618.1:c.81-12del
  • NM_001407619.1:c.81-12del
  • NM_001407620.1:c.81-12del
  • NM_001407621.1:c.81-12del
  • NM_001407622.1:c.81-12del
  • NM_001407623.1:c.81-12del
  • NM_001407624.1:c.81-12del
  • NM_001407625.1:c.81-12del
  • NM_001407626.1:c.81-12del
  • NM_001407627.1:c.81-12del
  • NM_001407628.1:c.81-12del
  • NM_001407629.1:c.81-12del
  • NM_001407630.1:c.81-12del
  • NM_001407631.1:c.81-12del
  • NM_001407632.1:c.81-12del
  • NM_001407633.1:c.81-12del
  • NM_001407634.1:c.81-12del
  • NM_001407635.1:c.81-12del
  • NM_001407636.1:c.81-12del
  • NM_001407637.1:c.81-12del
  • NM_001407638.1:c.81-12del
  • NM_001407639.1:c.81-12del
  • NM_001407640.1:c.81-12del
  • NM_001407641.1:c.81-12del
  • NM_001407642.1:c.81-12del
  • NM_001407644.1:c.81-12del
  • NM_001407645.1:c.81-12del
  • NM_001407646.1:c.81-12del
  • NM_001407647.1:c.81-12del
  • NM_001407648.1:c.81-12del
  • NM_001407649.1:c.81-12del
  • NM_001407652.1:c.81-12del
  • NM_001407653.1:c.81-12del
  • NM_001407654.1:c.81-12del
  • NM_001407655.1:c.81-12del
  • NM_001407656.1:c.81-12del
  • NM_001407657.1:c.81-12del
  • NM_001407658.1:c.81-12del
  • NM_001407659.1:c.81-12del
  • NM_001407660.1:c.81-12del
  • NM_001407661.1:c.81-12del
  • NM_001407662.1:c.81-12del
  • NM_001407663.1:c.81-12del
  • NM_001407664.1:c.81-12del
  • NM_001407665.1:c.81-12del
  • NM_001407666.1:c.81-12del
  • NM_001407667.1:c.81-12del
  • NM_001407668.1:c.81-12del
  • NM_001407669.1:c.81-12del
  • NM_001407670.1:c.81-12del
  • NM_001407671.1:c.81-12del
  • NM_001407672.1:c.81-12del
  • NM_001407673.1:c.81-12del
  • NM_001407674.1:c.81-12del
  • NM_001407675.1:c.81-12del
  • NM_001407676.1:c.81-12del
  • NM_001407677.1:c.81-12del
  • NM_001407678.1:c.81-12del
  • NM_001407679.1:c.81-12del
  • NM_001407680.1:c.81-12del
  • NM_001407681.1:c.81-12del
  • NM_001407682.1:c.81-12del
  • NM_001407683.1:c.81-12del
  • NM_001407684.1:c.81-12del
  • NM_001407685.1:c.81-12del
  • NM_001407686.1:c.81-12del
  • NM_001407687.1:c.81-12del
  • NM_001407688.1:c.81-12del
  • NM_001407689.1:c.81-12del
  • NM_001407690.1:c.81-12del
  • NM_001407691.1:c.81-12del
  • NM_001407692.1:c.-7-9258del
  • NM_001407694.1:c.-177-12del
  • NM_001407695.1:c.-181-12del
  • NM_001407696.1:c.-177-12del
  • NM_001407697.1:c.-61-12del
  • NM_001407698.1:c.-8+8226del
  • NM_001407724.1:c.-177-12del
  • NM_001407725.1:c.-61-12del
  • NM_001407726.1:c.-8+5767del
  • NM_001407727.1:c.-177-12del
  • NM_001407728.1:c.-61-12del
  • NM_001407729.1:c.-61-12del
  • NM_001407730.1:c.-61-12del
  • NM_001407731.1:c.-177-12del
  • NM_001407732.1:c.-8+8226del
  • NM_001407733.1:c.-177-12del
  • NM_001407734.1:c.-61-12del
  • NM_001407735.1:c.-61-12del
  • NM_001407736.1:c.-8+8226del
  • NM_001407737.1:c.-61-12del
  • NM_001407738.1:c.-8+8226del
  • NM_001407739.1:c.-61-12del
  • NM_001407740.1:c.-61-12del
  • NM_001407741.1:c.-61-12del
  • NM_001407742.1:c.-8+8226del
  • NM_001407743.1:c.-61-12del
  • NM_001407744.1:c.-8+8226del
  • NM_001407745.1:c.-61-12del
  • NM_001407746.1:c.-177-12del
  • NM_001407747.1:c.-7-9258del
  • NM_001407748.1:c.-61-12del
  • NM_001407749.1:c.-177-12del
  • NM_001407750.1:c.-8+8226del
  • NM_001407751.1:c.-8+5767del
  • NM_001407752.1:c.-61-12del
  • NM_001407838.1:c.-61-12del
  • NM_001407839.1:c.-61-12del
  • NM_001407841.1:c.-57-12del
  • NM_001407842.1:c.-177-12del
  • NM_001407843.1:c.-177-12del
  • NM_001407844.1:c.-61-12del
  • NM_001407845.1:c.-8+8226del
  • NM_001407846.1:c.-61-12del
  • NM_001407847.1:c.-61-12del
  • NM_001407848.1:c.-61-12del
  • NM_001407849.1:c.-8+8226del
  • NM_001407850.1:c.-61-12del
  • NM_001407851.1:c.-61-12del
  • NM_001407852.1:c.-8+8226del
  • NM_001407853.1:c.-108-12del
  • NM_001407854.1:c.81-12del
  • NM_001407858.1:c.81-12del
  • NM_001407859.1:c.81-12del
  • NM_001407860.1:c.81-12del
  • NM_001407861.1:c.81-12del
  • NM_001407862.1:c.81-12del
  • NM_001407863.1:c.81-12del
  • NM_001407874.1:c.81-12del
  • NM_001407875.1:c.81-12del
  • NM_001407879.1:c.-108-12del
  • NM_001407881.1:c.-55+8226del
  • NM_001407882.1:c.-108-12del
  • NM_001407884.1:c.-108-12del
  • NM_001407885.1:c.-108-12del
  • NM_001407886.1:c.-108-12del
  • NM_001407887.1:c.-108-12del
  • NM_001407889.1:c.-224-12del
  • NM_001407894.1:c.-108-12del
  • NM_001407895.1:c.-108-12del
  • NM_001407896.1:c.-108-12del
  • NM_001407897.1:c.-108-12del
  • NM_001407898.1:c.-55+8226del
  • NM_001407899.1:c.-108-12del
  • NM_001407900.1:c.-224-12del
  • NM_001407902.1:c.-55+8226del
  • NM_001407904.1:c.-108-12del
  • NM_001407906.1:c.-108-12del
  • NM_001407907.1:c.-108-12del
  • NM_001407908.1:c.-108-12del
  • NM_001407909.1:c.-108-12del
  • NM_001407910.1:c.-108-12del
  • NM_001407915.1:c.-108-12del
  • NM_001407916.1:c.-108-12del
  • NM_001407917.1:c.-108-12del
  • NM_001407918.1:c.-108-12del
  • NM_001407919.1:c.81-12del
  • NM_001407920.1:c.-61-12del
  • NM_001407921.1:c.-61-12del
  • NM_001407922.1:c.-61-12del
  • NM_001407923.1:c.-61-12del
  • NM_001407924.1:c.-8+8226del
  • NM_001407925.1:c.-8+8226del
  • NM_001407926.1:c.-61-12del
  • NM_001407927.1:c.-61-12del
  • NM_001407928.1:c.-8+8226del
  • NM_001407929.1:c.-8+8226del
  • NM_001407930.1:c.-177-12del
  • NM_001407931.1:c.-7-9258del
  • NM_001407932.1:c.-8+8226del
  • NM_001407933.1:c.-61-12del
  • NM_001407934.1:c.-61-12del
  • NM_001407935.1:c.-61-12del
  • NM_001407936.1:c.-8+8226del
  • NM_001407937.1:c.81-12del
  • NM_001407938.1:c.81-12del
  • NM_001407939.1:c.81-12del
  • NM_001407940.1:c.81-12del
  • NM_001407941.1:c.81-12del
  • NM_001407942.1:c.-177-12del
  • NM_001407943.1:c.-61-12del
  • NM_001407944.1:c.-61-12del
  • NM_001407945.1:c.-8+8226del
  • NM_001407946.1:c.-108-12del
  • NM_001407947.1:c.-108-12del
  • NM_001407948.1:c.-108-12del
  • NM_001407949.1:c.-108-12del
  • NM_001407950.1:c.-108-12del
  • NM_001407951.1:c.-108-12del
  • NM_001407952.1:c.-108-12del
  • NM_001407953.1:c.-108-12del
  • NM_001407954.1:c.-108-12del
  • NM_001407955.1:c.-108-12del
  • NM_001407956.1:c.-108-12del
  • NM_001407957.1:c.-108-12del
  • NM_001407958.1:c.-108-12del
  • NM_001407959.1:c.-170+9486del
  • NM_001407960.1:c.-223-12del
  • NM_001407962.1:c.-223-12del
  • NM_001407963.1:c.-170+9480del
  • NM_001407964.1:c.-61-12del
  • NM_001407965.1:c.-339-12del
  • NM_001407966.1:c.-219+9480del
  • NM_001407967.1:c.-219+9486del
  • NM_001407968.1:c.81-12del
  • NM_001407969.1:c.81-12del
  • NM_001407970.1:c.81-12del
  • NM_001407971.1:c.81-12del
  • NM_001407972.1:c.81-12del
  • NM_001407973.1:c.81-12del
  • NM_001407974.1:c.81-12del
  • NM_001407975.1:c.81-12del
  • NM_001407976.1:c.81-12del
  • NM_001407977.1:c.81-12del
  • NM_001407978.1:c.81-12del
  • NM_001407979.1:c.81-12del
  • NM_001407980.1:c.81-12del
  • NM_001407981.1:c.81-12del
  • NM_001407982.1:c.81-12del
  • NM_001407983.1:c.81-12del
  • NM_001407984.1:c.81-12del
  • NM_001407985.1:c.81-12del
  • NM_001407986.1:c.81-12del
  • NM_001407990.1:c.81-12del
  • NM_001407991.1:c.81-12del
  • NM_001407992.1:c.81-12del
  • NM_001407993.1:c.81-12del
  • NM_001408392.1:c.81-12del
  • NM_001408396.1:c.81-12del
  • NM_001408397.1:c.81-12del
  • NM_001408398.1:c.81-12del
  • NM_001408399.1:c.81-12del
  • NM_001408400.1:c.81-12del
  • NM_001408401.1:c.81-12del
  • NM_001408402.1:c.81-12del
  • NM_001408403.1:c.81-12del
  • NM_001408404.1:c.81-12del
  • NM_001408406.1:c.81-12del
  • NM_001408407.1:c.81-12del
  • NM_001408408.1:c.81-12del
  • NM_001408409.1:c.81-12del
  • NM_001408410.1:c.-61-12del
  • NM_001408411.1:c.81-12del
  • NM_001408412.1:c.81-12del
  • NM_001408413.1:c.81-12del
  • NM_001408414.1:c.81-12del
  • NM_001408415.1:c.81-12del
  • NM_001408416.1:c.81-12del
  • NM_001408418.1:c.81-12del
  • NM_001408419.1:c.81-12del
  • NM_001408420.1:c.81-12del
  • NM_001408421.1:c.81-12del
  • NM_001408422.1:c.81-12del
  • NM_001408423.1:c.81-12del
  • NM_001408424.1:c.81-12del
  • NM_001408425.1:c.81-12del
  • NM_001408426.1:c.81-12del
  • NM_001408427.1:c.81-12del
  • NM_001408428.1:c.81-12del
  • NM_001408429.1:c.81-12del
  • NM_001408430.1:c.81-12del
  • NM_001408431.1:c.81-12del
  • NM_001408432.1:c.81-12del
  • NM_001408433.1:c.81-12del
  • NM_001408434.1:c.81-12del
  • NM_001408435.1:c.81-12del
  • NM_001408436.1:c.81-12del
  • NM_001408437.1:c.81-12del
  • NM_001408438.1:c.81-12del
  • NM_001408439.1:c.81-12del
  • NM_001408440.1:c.81-12del
  • NM_001408441.1:c.81-12del
  • NM_001408442.1:c.81-12del
  • NM_001408443.1:c.81-12del
  • NM_001408444.1:c.81-12del
  • NM_001408445.1:c.81-12del
  • NM_001408446.1:c.81-12del
  • NM_001408447.1:c.81-12del
  • NM_001408448.1:c.81-12del
  • NM_001408450.1:c.81-12del
  • NM_001408451.1:c.80+8226del
  • NM_001408452.1:c.-61-12del
  • NM_001408453.1:c.-61-12del
  • NM_001408454.1:c.-8+8226del
  • NM_001408455.1:c.-177-12del
  • NM_001408456.1:c.-177-12del
  • NM_001408457.1:c.-7-9258del
  • NM_001408458.1:c.-61-12del
  • NM_001408459.1:c.-8+8226del
  • NM_001408460.1:c.-8+8226del
  • NM_001408461.1:c.-8+8226del
  • NM_001408462.1:c.-61-12del
  • NM_001408463.1:c.-61-12del
  • NM_001408464.1:c.-8+8226del
  • NM_001408465.1:c.-181-12del
  • NM_001408466.1:c.-61-12del
  • NM_001408467.1:c.-8+8226del
  • NM_001408468.1:c.-177-12del
  • NM_001408469.1:c.-61-12del
  • NM_001408470.1:c.-61-12del
  • NM_001408472.1:c.81-12del
  • NM_001408473.1:c.81-12del
  • NM_001408474.1:c.81-12del
  • NM_001408475.1:c.81-12del
  • NM_001408476.1:c.81-12del
  • NM_001408478.1:c.-108-12del
  • NM_001408479.1:c.-108-12del
  • NM_001408480.1:c.-108-12del
  • NM_001408481.1:c.-108-12del
  • NM_001408482.1:c.-108-12del
  • NM_001408483.1:c.-108-12del
  • NM_001408484.1:c.-108-12del
  • NM_001408485.1:c.-108-12del
  • NM_001408489.1:c.-108-12del
  • NM_001408490.1:c.-108-12del
  • NM_001408491.1:c.-108-12del
  • NM_001408492.1:c.-224-12del
  • NM_001408493.1:c.-108-12del
  • NM_001408494.1:c.81-12del
  • NM_001408495.1:c.81-12del
  • NM_001408496.1:c.-8+8226del
  • NM_001408497.1:c.-61-12del
  • NM_001408498.1:c.-8+8226del
  • NM_001408499.1:c.-61-12del
  • NM_001408500.1:c.-61-12del
  • NM_001408501.1:c.-177-12del
  • NM_001408502.1:c.-108-12del
  • NM_001408503.1:c.-61-12del
  • NM_001408504.1:c.-61-12del
  • NM_001408505.1:c.-61-12del
  • NM_001408506.1:c.-108-12del
  • NM_001408507.1:c.-108-12del
  • NM_001408508.1:c.-108-12del
  • NM_001408509.1:c.-108-12del
  • NM_001408510.1:c.-223-12del
  • NM_001408511.1:c.-7-9258del
  • NM_001408512.1:c.-223-12del
  • NM_001408513.1:c.-108-12del
  • NM_001408514.1:c.-108-12del
  • NM_007294.4:c.81-12delMANE SELECT
  • NM_007297.4:c.-8+8226del
  • NM_007298.4:c.81-12del
  • NM_007299.4:c.81-12del
  • NM_007300.4:c.81-12del
  • LRG_292t1:c.81-12del
  • LRG_292:g.102193del
  • NC_000017.10:g.41267808del
  • NC_000017.10:g.41267814del
  • NM_007294.3:c.81-12del
  • NM_007294.3:c.81-12delC
  • NM_007294.4:c.81-12delCMANE SELECT
  • U14680.1:n.200-12delC
Nucleotide change:
IVS2-12delC
Links:
Breast Cancer Information Core (BIC) (BRCA1): 200-12&base_change=del C; dbSNP: rs273902789
NCBI 1000 Genomes Browser:
rs273902789
Molecular consequence:
  • NM_001407571.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407581.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407582.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407583.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407585.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407587.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407590.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407591.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407593.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407594.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407596.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407597.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407598.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407602.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407603.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407605.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407610.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407611.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407612.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407613.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407614.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407615.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407616.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407617.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407618.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407619.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407620.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407621.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407622.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407623.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407624.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407625.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407626.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407627.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407628.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407629.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407630.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407631.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407632.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407633.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407634.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407635.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407636.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407637.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407638.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407639.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407640.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407641.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407642.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407644.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407645.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407646.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407647.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407648.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407649.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407652.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407653.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407654.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407655.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407656.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407657.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407658.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407659.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407660.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407661.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407662.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407663.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407664.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407665.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407666.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407667.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407668.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407669.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407670.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407671.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407672.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407673.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407674.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407675.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407676.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407677.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407678.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407679.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407680.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407681.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407682.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407683.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407684.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407685.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407686.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407687.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407688.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407689.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407690.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407691.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407692.1:c.-7-9258del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407694.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407695.1:c.-181-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407696.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407697.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407698.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407724.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407725.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407726.1:c.-8+5767del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407727.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407728.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407729.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407730.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407731.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407732.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407733.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407734.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407735.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407736.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407737.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407738.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407739.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407740.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407741.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407742.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407743.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407744.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407745.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407746.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407747.1:c.-7-9258del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407748.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407749.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407750.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407751.1:c.-8+5767del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407752.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407838.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407839.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407841.1:c.-57-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407842.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407843.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407844.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407845.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407846.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407847.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407848.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407849.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407850.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407851.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407852.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407853.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407854.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407858.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407859.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407860.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407861.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407862.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407863.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407874.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407875.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407879.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407881.1:c.-55+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407882.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407884.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407885.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407886.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407887.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407889.1:c.-224-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407894.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407895.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407896.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407897.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407898.1:c.-55+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407899.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407900.1:c.-224-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407902.1:c.-55+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407904.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407906.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407907.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407908.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407909.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407910.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407915.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407916.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407917.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407918.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407919.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407920.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407921.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407922.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407923.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407924.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407925.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407926.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407927.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407928.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407929.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407930.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407931.1:c.-7-9258del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407932.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407933.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407934.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407935.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407936.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407937.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407938.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407939.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407940.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407941.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407942.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407943.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407944.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407945.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407946.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407947.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407948.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407949.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407950.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407951.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407952.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407953.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407954.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407955.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407956.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407957.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407958.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407959.1:c.-170+9486del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407960.1:c.-223-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407962.1:c.-223-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407963.1:c.-170+9480del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407964.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407965.1:c.-339-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407966.1:c.-219+9480del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407967.1:c.-219+9486del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407968.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.80+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.-7-9258del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.-181-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.-224-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.-177-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.-61-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.-223-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.-7-9258del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.-223-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.-108-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007297.4:c.-8+8226del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007300.4:c.81-12del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000108981Sharing Clinical Reports Project (SCRP)
no assertion criteria provided
Likely benign
(Feb 2, 2010) 		germlineclinical testing

SCV000144219Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Feb 20, 2004) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1not providednot provided1not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108981.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024