NM_007294.4(BRCA1):c.4358-31_4358-27del AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 13, 2022
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV004371875.1
Allele description [Variation Report for NM_007294.4(BRCA1):c.4358-31_4358-27del]
NM_007294.4(BRCA1):c.4358-31_4358-27del
- 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.4358-31_4358-27del
- HGVS:
- NC_000017.11:g.43076645_43076649del
- NG_005905.2:g.141339_141343del
- NM_001407571.1:c.4145-31_4145-27del
- NM_001407581.1:c.4424-31_4424-27del
- NM_001407582.1:c.4424-31_4424-27del
- NM_001407583.1:c.4424-34_4424-30del
- NM_001407585.1:c.4424-34_4424-30del
- NM_001407587.1:c.4421-31_4421-27del
- NM_001407590.1:c.4421-34_4421-30del
- NM_001407591.1:c.4421-34_4421-30del
- NM_001407593.1:c.4358-31_4358-27del
- NM_001407594.1:c.4358-31_4358-27del
- NM_001407596.1:c.4358-31_4358-27del
- NM_001407597.1:c.4358-31_4358-27del
- NM_001407598.1:c.4358-31_4358-27del
- NM_001407602.1:c.4358-31_4358-27del
- NM_001407603.1:c.4358-31_4358-27del
- NM_001407605.1:c.4358-31_4358-27del
- NM_001407610.1:c.4355-31_4355-27del
- NM_001407611.1:c.4355-31_4355-27del
- NM_001407612.1:c.4355-31_4355-27del
- NM_001407613.1:c.4355-31_4355-27del
- NM_001407614.1:c.4355-31_4355-27del
- NM_001407615.1:c.4355-31_4355-27del
- NM_001407616.1:c.4358-34_4358-30del
- NM_001407617.1:c.4358-34_4358-30del
- NM_001407618.1:c.4358-34_4358-30del
- NM_001407619.1:c.4358-34_4358-30del
- NM_001407620.1:c.4358-34_4358-30del
- NM_001407621.1:c.4358-34_4358-30del
- NM_001407622.1:c.4358-34_4358-30del
- NM_001407623.1:c.4358-34_4358-30del
- NM_001407624.1:c.4355-31_4355-27del
- NM_001407625.1:c.4355-31_4355-27del
- NM_001407626.1:c.4355-31_4355-27del
- NM_001407627.1:c.4352-31_4352-27del
- NM_001407628.1:c.4352-31_4352-27del
- NM_001407629.1:c.4352-31_4352-27del
- NM_001407630.1:c.4352-31_4352-27del
- NM_001407631.1:c.4352-31_4352-27del
- NM_001407632.1:c.4352-31_4352-27del
- NM_001407633.1:c.4355-34_4355-30del
- NM_001407634.1:c.4355-34_4355-30del
- NM_001407635.1:c.4355-34_4355-30del
- NM_001407636.1:c.4355-34_4355-30del
- NM_001407637.1:c.4355-34_4355-30del
- NM_001407638.1:c.4355-34_4355-30del
- NM_001407639.1:c.4355-34_4355-30del
- NM_001407640.1:c.4355-34_4355-30del
- NM_001407641.1:c.4355-34_4355-30del
- NM_001407642.1:c.4355-34_4355-30del
- NM_001407644.1:c.4352-34_4352-30del
- NM_001407645.1:c.4352-34_4352-30del
- NM_001407646.1:c.4346-31_4346-27del
- NM_001407647.1:c.4346-34_4346-30del
- NM_001407648.1:c.4301-31_4301-27del
- NM_001407649.1:c.4298-31_4298-27del
- NM_001407652.1:c.4358-31_4358-27del
- NM_001407653.1:c.4280-31_4280-27del
- NM_001407654.1:c.4280-31_4280-27del
- NM_001407655.1:c.4280-31_4280-27del
- NM_001407656.1:c.4277-31_4277-27del
- NM_001407657.1:c.4280-34_4280-30del
- NM_001407658.1:c.4280-34_4280-30del
- NM_001407659.1:c.4274-31_4274-27del
- NM_001407660.1:c.4274-31_4274-27del
- NM_001407661.1:c.4277-34_4277-30del
- NM_001407662.1:c.4277-34_4277-30del
- NM_001407663.1:c.4277-34_4277-30del
- NM_001407664.1:c.4235-31_4235-27del
- NM_001407665.1:c.4235-31_4235-27del
- NM_001407666.1:c.4235-31_4235-27del
- NM_001407667.1:c.4235-31_4235-27del
- NM_001407668.1:c.4235-31_4235-27del
- NM_001407669.1:c.4235-31_4235-27del
- NM_001407670.1:c.4232-31_4232-27del
- NM_001407671.1:c.4232-31_4232-27del
- NM_001407672.1:c.4232-31_4232-27del
- NM_001407673.1:c.4232-31_4232-27del
- NM_001407674.1:c.4232-31_4232-27del
- NM_001407675.1:c.4232-31_4232-27del
- NM_001407676.1:c.4232-31_4232-27del
- NM_001407677.1:c.4235-34_4235-30del
- NM_001407678.1:c.4235-34_4235-30del
- NM_001407679.1:c.4235-34_4235-30del
- NM_001407680.1:c.4235-34_4235-30del
- NM_001407681.1:c.4232-34_4232-30del
- NM_001407682.1:c.4232-34_4232-30del
- NM_001407683.1:c.4232-34_4232-30del
- NM_001407684.1:c.4358-31_4358-27del
- NM_001407685.1:c.4229-31_4229-27del
- NM_001407686.1:c.4229-31_4229-27del
- NM_001407687.1:c.4229-31_4229-27del
- NM_001407688.1:c.4232-34_4232-30del
- NM_001407689.1:c.4232-34_4232-30del
- NM_001407690.1:c.4229-34_4229-30del
- NM_001407691.1:c.4229-34_4229-30del
- NM_001407692.1:c.4217-31_4217-27del
- NM_001407694.1:c.4217-31_4217-27del
- NM_001407695.1:c.4217-31_4217-27del
- NM_001407696.1:c.4217-31_4217-27del
- NM_001407697.1:c.4217-31_4217-27del
- NM_001407698.1:c.4217-31_4217-27del
- NM_001407724.1:c.4217-31_4217-27del
- NM_001407725.1:c.4217-31_4217-27del
- NM_001407726.1:c.4217-31_4217-27del
- NM_001407727.1:c.4217-31_4217-27del
- NM_001407728.1:c.4217-31_4217-27del
- NM_001407729.1:c.4217-31_4217-27del
- NM_001407730.1:c.4217-31_4217-27del
- NM_001407731.1:c.4217-31_4217-27del
- NM_001407732.1:c.4217-34_4217-30del
- NM_001407733.1:c.4217-34_4217-30del
- NM_001407734.1:c.4217-34_4217-30del
- NM_001407735.1:c.4217-34_4217-30del
- NM_001407736.1:c.4217-34_4217-30del
- NM_001407737.1:c.4217-34_4217-30del
- NM_001407738.1:c.4217-34_4217-30del
- NM_001407739.1:c.4217-34_4217-30del
- NM_001407740.1:c.4214-31_4214-27del
- NM_001407741.1:c.4214-31_4214-27del
- NM_001407742.1:c.4214-31_4214-27del
- NM_001407743.1:c.4214-31_4214-27del
- NM_001407744.1:c.4214-31_4214-27del
- NM_001407745.1:c.4214-31_4214-27del
- NM_001407746.1:c.4214-31_4214-27del
- NM_001407747.1:c.4214-31_4214-27del
- NM_001407748.1:c.4214-31_4214-27del
- NM_001407749.1:c.4214-31_4214-27del
- NM_001407750.1:c.4214-31_4214-27del
- NM_001407751.1:c.4214-31_4214-27del
- NM_001407752.1:c.4214-31_4214-27del
- NM_001407838.1:c.4214-34_4214-30del
- NM_001407839.1:c.4214-34_4214-30del
- NM_001407841.1:c.4214-34_4214-30del
- NM_001407842.1:c.4214-34_4214-30del
- NM_001407843.1:c.4214-34_4214-30del
- NM_001407844.1:c.4214-34_4214-30del
- NM_001407845.1:c.4214-34_4214-30del
- NM_001407846.1:c.4214-34_4214-30del
- NM_001407847.1:c.4211-31_4211-27del
- NM_001407848.1:c.4211-31_4211-27del
- NM_001407849.1:c.4211-31_4211-27del
- NM_001407850.1:c.4214-34_4214-30del
- NM_001407851.1:c.4214-34_4214-30del
- NM_001407852.1:c.4214-34_4214-30del
- NM_001407853.1:c.4211-31_4211-27del
- NM_001407854.1:c.4358-31_4358-27del
- NM_001407858.1:c.4358-34_4358-30del
- NM_001407859.1:c.4358-34_4358-30del
- NM_001407860.1:c.4355-31_4355-27del
- NM_001407861.1:c.4355-34_4355-30del
- NM_001407862.1:c.4157-31_4157-27del
- NM_001407863.1:c.4235-34_4235-30del
- NM_001407874.1:c.4154-34_4154-30del
- NM_001407875.1:c.4154-34_4154-30del
- NM_001407879.1:c.4148-31_4148-27del
- NM_001407881.1:c.4148-31_4148-27del
- NM_001407882.1:c.4148-31_4148-27del
- NM_001407884.1:c.4148-31_4148-27del
- NM_001407885.1:c.4148-31_4148-27del
- NM_001407886.1:c.4148-31_4148-27del
- NM_001407887.1:c.4148-31_4148-27del
- NM_001407889.1:c.4148-31_4148-27del
- NM_001407894.1:c.4145-31_4145-27del
- NM_001407895.1:c.4145-31_4145-27del
- NM_001407896.1:c.4145-31_4145-27del
- NM_001407897.1:c.4145-31_4145-27del
- NM_001407898.1:c.4145-31_4145-27del
- NM_001407899.1:c.4145-31_4145-27del
- NM_001407900.1:c.4148-34_4148-30del
- NM_001407902.1:c.4148-34_4148-30del
- NM_001407904.1:c.4148-34_4148-30del
- NM_001407906.1:c.4148-34_4148-30del
- NM_001407907.1:c.4145-31_4145-27del
- NM_001407908.1:c.4145-31_4145-27del
- NM_001407909.1:c.4145-31_4145-27del
- NM_001407910.1:c.4145-31_4145-27del
- NM_001407915.1:c.4142-31_4142-27del
- NM_001407916.1:c.4145-34_4145-30del
- NM_001407917.1:c.4145-34_4145-30del
- NM_001407918.1:c.4145-34_4145-30del
- NM_001407919.1:c.4235-31_4235-27del
- NM_001407920.1:c.4094-31_4094-27del
- NM_001407921.1:c.4094-31_4094-27del
- NM_001407922.1:c.4094-31_4094-27del
- NM_001407923.1:c.4094-31_4094-27del
- NM_001407924.1:c.4094-31_4094-27del
- NM_001407925.1:c.4094-31_4094-27del
- NM_001407926.1:c.4094-31_4094-27del
- NM_001407927.1:c.4094-34_4094-30del
- NM_001407928.1:c.4094-34_4094-30del
- NM_001407929.1:c.4094-34_4094-30del
- NM_001407930.1:c.4091-31_4091-27del
- NM_001407931.1:c.4091-31_4091-27del
- NM_001407932.1:c.4091-31_4091-27del
- NM_001407933.1:c.4091-31_4091-27del
- NM_001407934.1:c.4088-31_4088-27del
- NM_001407935.1:c.4091-34_4091-30del
- NM_001407936.1:c.4091-34_4091-30del
- NM_001407937.1:c.4235-31_4235-27del
- NM_001407938.1:c.4235-31_4235-27del
- NM_001407939.1:c.4235-34_4235-30del
- NM_001407940.1:c.4232-31_4232-27del
- NM_001407941.1:c.4232-34_4232-30del
- NM_001407942.1:c.4217-31_4217-27del
- NM_001407943.1:c.4214-31_4214-27del
- NM_001407944.1:c.4217-34_4217-30del
- NM_001407945.1:c.4217-34_4217-30del
- NM_001407946.1:c.4025-31_4025-27del
- NM_001407947.1:c.4025-31_4025-27del
- NM_001407948.1:c.4025-31_4025-27del
- NM_001407949.1:c.4025-31_4025-27del
- NM_001407950.1:c.4025-34_4025-30del
- NM_001407951.1:c.4025-34_4025-30del
- NM_001407952.1:c.4022-31_4022-27del
- NM_001407953.1:c.4022-31_4022-27del
- NM_001407954.1:c.4022-31_4022-27del
- NM_001407955.1:c.4022-31_4022-27del
- NM_001407956.1:c.4019-31_4019-27del
- NM_001407957.1:c.4022-34_4022-30del
- NM_001407958.1:c.4022-34_4022-30del
- NM_001407959.1:c.3977-31_3977-27del
- NM_001407960.1:c.3977-34_3977-30del
- NM_001407962.1:c.3974-31_3974-27del
- NM_001407963.1:c.3974-34_3974-30del
- NM_001407964.1:c.4214-5407_4214-5403del
- NM_001407965.1:c.3851-31_3851-27del
- NM_001407966.1:c.3470-31_3470-27del
- NM_001407967.1:c.3470-34_3470-30del
- NM_001407968.1:c.1754-31_1754-27del
- NM_001407969.1:c.1751-31_1751-27del
- NM_001407970.1:c.1115-31_1115-27del
- NM_001407971.1:c.1115-31_1115-27del
- NM_001407972.1:c.1112-31_1112-27del
- NM_001407973.1:c.1049-31_1049-27del
- NM_001407974.1:c.1049-31_1049-27del
- NM_001407975.1:c.1049-31_1049-27del
- NM_001407976.1:c.1049-31_1049-27del
- NM_001407977.1:c.1049-31_1049-27del
- NM_001407978.1:c.1049-31_1049-27del
- NM_001407979.1:c.1046-31_1046-27del
- NM_001407980.1:c.1046-31_1046-27del
- NM_001407981.1:c.1046-31_1046-27del
- NM_001407982.1:c.1046-31_1046-27del
- NM_001407983.1:c.1046-31_1046-27del
- NM_001407984.1:c.1046-31_1046-27del
- NM_001407985.1:c.1046-31_1046-27del
- NM_001407986.1:c.1046-31_1046-27del
- NM_001407990.1:c.1046-31_1046-27del
- NM_001407991.1:c.1046-31_1046-27del
- NM_001407992.1:c.1046-31_1046-27del
- NM_001407993.1:c.1049-34_1049-30del
- NM_001408392.1:c.1046-34_1046-30del
- NM_001408396.1:c.1046-34_1046-30del
- NM_001408397.1:c.1046-34_1046-30del
- NM_001408398.1:c.1046-34_1046-30del
- NM_001408399.1:c.1046-34_1046-30del
- NM_001408400.1:c.1043-31_1043-27del
- NM_001408401.1:c.1043-31_1043-27del
- NM_001408402.1:c.1043-31_1043-27del
- NM_001408403.1:c.1046-34_1046-30del
- NM_001408404.1:c.1046-34_1046-30del
- NM_001408406.1:c.1040-31_1040-27del
- NM_001408407.1:c.1043-34_1043-30del
- NM_001408408.1:c.1040-31_1040-27del
- NM_001408409.1:c.1037-31_1037-27del
- NM_001408410.1:c.974-31_974-27del
- NM_001408411.1:c.971-31_971-27del
- NM_001408412.1:c.971-34_971-30del
- NM_001408413.1:c.968-31_968-27del
- NM_001408414.1:c.971-34_971-30del
- NM_001408415.1:c.971-34_971-30del
- NM_001408416.1:c.968-31_968-27del
- NM_001408418.1:c.932-31_932-27del
- NM_001408419.1:c.932-31_932-27del
- NM_001408420.1:c.932-31_932-27del
- NM_001408421.1:c.929-31_929-27del
- NM_001408422.1:c.932-34_932-30del
- NM_001408423.1:c.932-34_932-30del
- NM_001408424.1:c.929-31_929-27del
- NM_001408425.1:c.926-31_926-27del
- NM_001408426.1:c.926-31_926-27del
- NM_001408427.1:c.926-31_926-27del
- NM_001408428.1:c.926-31_926-27del
- NM_001408429.1:c.926-31_926-27del
- NM_001408430.1:c.926-31_926-27del
- NM_001408431.1:c.929-34_929-30del
- NM_001408432.1:c.923-31_923-27del
- NM_001408433.1:c.923-31_923-27del
- NM_001408434.1:c.923-31_923-27del
- NM_001408435.1:c.923-31_923-27del
- NM_001408436.1:c.926-34_926-30del
- NM_001408437.1:c.926-34_926-30del
- NM_001408438.1:c.926-34_926-30del
- NM_001408439.1:c.926-34_926-30del
- NM_001408440.1:c.926-34_926-30del
- NM_001408441.1:c.923-31_923-27del
- NM_001408442.1:c.923-31_923-27del
- NM_001408443.1:c.923-31_923-27del
- NM_001408444.1:c.923-31_923-27del
- NM_001408445.1:c.923-34_923-30del
- NM_001408446.1:c.923-34_923-30del
- NM_001408447.1:c.923-34_923-30del
- NM_001408448.1:c.923-34_923-30del
- NM_001408450.1:c.923-34_923-30del
- NM_001408451.1:c.914-31_914-27del
- NM_001408452.1:c.908-31_908-27del
- NM_001408453.1:c.908-31_908-27del
- NM_001408454.1:c.908-31_908-27del
- NM_001408455.1:c.908-31_908-27del
- NM_001408456.1:c.908-31_908-27del
- NM_001408457.1:c.908-31_908-27del
- NM_001408458.1:c.908-34_908-30del
- NM_001408459.1:c.908-34_908-30del
- NM_001408460.1:c.908-34_908-30del
- NM_001408461.1:c.908-34_908-30del
- NM_001408462.1:c.905-31_905-27del
- NM_001408463.1:c.905-31_905-27del
- NM_001408464.1:c.905-31_905-27del
- NM_001408465.1:c.905-31_905-27del
- NM_001408466.1:c.905-31_905-27del
- NM_001408467.1:c.905-31_905-27del
- NM_001408468.1:c.905-34_905-30del
- NM_001408469.1:c.905-34_905-30del
- NM_001408470.1:c.902-31_902-27del
- NM_001408472.1:c.1046-31_1046-27del
- NM_001408473.1:c.1046-34_1046-30del
- NM_001408474.1:c.848-31_848-27del
- NM_001408475.1:c.845-31_845-27del
- NM_001408476.1:c.848-34_848-30del
- NM_001408478.1:c.839-31_839-27del
- NM_001408479.1:c.839-31_839-27del
- NM_001408480.1:c.839-31_839-27del
- NM_001408481.1:c.839-34_839-30del
- NM_001408482.1:c.839-34_839-30del
- NM_001408483.1:c.839-34_839-30del
- NM_001408484.1:c.839-34_839-30del
- NM_001408485.1:c.839-34_839-30del
- NM_001408489.1:c.836-31_836-27del
- NM_001408490.1:c.836-31_836-27del
- NM_001408491.1:c.836-31_836-27del
- NM_001408492.1:c.836-34_836-30del
- NM_001408493.1:c.836-34_836-30del
- NM_001408494.1:c.809-31_809-27del
- NM_001408495.1:c.806-34_806-30del
- NM_001408496.1:c.785-31_785-27del
- NM_001408497.1:c.785-31_785-27del
- NM_001408498.1:c.785-31_785-27del
- NM_001408499.1:c.785-31_785-27del
- NM_001408500.1:c.785-31_785-27del
- NM_001408501.1:c.785-31_785-27del
- NM_001408502.1:c.782-31_782-27del
- NM_001408503.1:c.782-31_782-27del
- NM_001408504.1:c.782-31_782-27del
- NM_001408505.1:c.782-34_782-30del
- NM_001408506.1:c.722-31_722-27del
- NM_001408507.1:c.719-31_719-27del
- NM_001408508.1:c.710-31_710-27del
- NM_001408509.1:c.710-34_710-30del
- NM_001408510.1:c.668-31_668-27del
- NM_001408511.1:c.665-31_665-27del
- NM_001408512.1:c.545-31_545-27del
- NM_001408513.1:c.836-5407_836-5403del
- NM_001408514.1:c.838+5759_838+5763del
- NM_007294.3:c.4358-31_4358-27delAAGTA
- NM_007294.4:c.4358-31_4358-27delMANE SELECT
- NM_007297.4:c.4217-31_4217-27del
- NM_007298.4:c.1049-34_1049-30del
- NM_007299.4:c.1049-34_1049-30del
- NM_007300.4:c.4424-34_4424-30del
- LRG_292t1:c.4358-31_4358-27del
- LRG_292:g.141339_141343del
- NC_000017.10:g.41228658_41228662del
- NC_000017.10:g.41228662_41228666del
- NM_007294.4:c.4358-31_4358-27del
This HGVS expression did not pass validation- Molecular consequence:
- NM_001407571.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.4424-31_4424-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407582.1:c.4424-31_4424-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407583.1:c.4424-34_4424-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407585.1:c.4424-34_4424-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407587.1:c.4421-31_4421-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407590.1:c.4421-34_4421-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407591.1:c.4421-34_4421-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407593.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407594.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407596.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407597.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407598.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407602.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407603.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407605.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407610.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407611.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407612.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407613.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407614.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407615.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407616.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407617.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407618.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407619.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407620.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407621.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407622.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407623.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407624.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407625.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407626.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407627.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407628.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407629.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407630.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407631.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407632.1:c.4352-31_4352-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407633.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407634.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407635.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407636.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407637.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407638.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407639.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407640.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407641.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407642.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407644.1:c.4352-34_4352-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407645.1:c.4352-34_4352-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407646.1:c.4346-31_4346-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407647.1:c.4346-34_4346-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407648.1:c.4301-31_4301-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407649.1:c.4298-31_4298-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407652.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407653.1:c.4280-31_4280-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407654.1:c.4280-31_4280-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407655.1:c.4280-31_4280-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407656.1:c.4277-31_4277-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407657.1:c.4280-34_4280-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407658.1:c.4280-34_4280-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407659.1:c.4274-31_4274-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407660.1:c.4274-31_4274-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407661.1:c.4277-34_4277-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407662.1:c.4277-34_4277-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407663.1:c.4277-34_4277-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407664.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407665.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407666.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407667.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407668.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407669.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407670.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407671.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407672.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407673.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407674.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407675.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407676.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407677.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407678.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407679.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407680.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407681.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407682.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407683.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407684.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407685.1:c.4229-31_4229-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407686.1:c.4229-31_4229-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407687.1:c.4229-31_4229-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407688.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407689.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407690.1:c.4229-34_4229-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407691.1:c.4229-34_4229-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407692.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407694.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407695.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407696.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407697.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407698.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407724.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407725.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407726.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407727.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407728.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407729.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407730.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407731.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407732.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407733.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407734.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407735.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407736.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407737.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407738.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407739.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407740.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407741.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407742.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407743.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407744.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407745.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407746.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407747.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407748.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407749.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407750.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407751.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407752.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407838.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407839.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407841.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407842.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407843.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407844.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407845.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407846.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407847.1:c.4211-31_4211-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407848.1:c.4211-31_4211-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407849.1:c.4211-31_4211-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407850.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407851.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407852.1:c.4214-34_4214-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407853.1:c.4211-31_4211-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407854.1:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407858.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407859.1:c.4358-34_4358-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407860.1:c.4355-31_4355-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407861.1:c.4355-34_4355-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407862.1:c.4157-31_4157-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407863.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407874.1:c.4154-34_4154-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407875.1:c.4154-34_4154-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407879.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407881.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407882.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407884.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407885.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407886.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407887.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407889.1:c.4148-31_4148-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407894.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407895.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407896.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407897.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407898.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407899.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407900.1:c.4148-34_4148-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407902.1:c.4148-34_4148-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407904.1:c.4148-34_4148-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407906.1:c.4148-34_4148-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407907.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407908.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407909.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407910.1:c.4145-31_4145-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407915.1:c.4142-31_4142-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407916.1:c.4145-34_4145-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407917.1:c.4145-34_4145-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407918.1:c.4145-34_4145-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407919.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407920.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407921.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407922.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407923.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407924.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407925.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407926.1:c.4094-31_4094-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407927.1:c.4094-34_4094-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407928.1:c.4094-34_4094-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407929.1:c.4094-34_4094-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407930.1:c.4091-31_4091-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407931.1:c.4091-31_4091-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407932.1:c.4091-31_4091-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407933.1:c.4091-31_4091-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407934.1:c.4088-31_4088-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407935.1:c.4091-34_4091-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407936.1:c.4091-34_4091-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407937.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407938.1:c.4235-31_4235-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407939.1:c.4235-34_4235-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407940.1:c.4232-31_4232-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407941.1:c.4232-34_4232-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407942.1:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407943.1:c.4214-31_4214-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407944.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407945.1:c.4217-34_4217-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407946.1:c.4025-31_4025-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407947.1:c.4025-31_4025-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407948.1:c.4025-31_4025-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407949.1:c.4025-31_4025-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407950.1:c.4025-34_4025-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407951.1:c.4025-34_4025-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407952.1:c.4022-31_4022-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407953.1:c.4022-31_4022-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407954.1:c.4022-31_4022-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407955.1:c.4022-31_4022-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407956.1:c.4019-31_4019-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407957.1:c.4022-34_4022-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407958.1:c.4022-34_4022-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407959.1:c.3977-31_3977-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407960.1:c.3977-34_3977-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407962.1:c.3974-31_3974-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407963.1:c.3974-34_3974-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407964.1:c.4214-5407_4214-5403del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407965.1:c.3851-31_3851-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407966.1:c.3470-31_3470-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407967.1:c.3470-34_3470-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407968.1:c.1754-31_1754-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.1751-31_1751-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.1115-31_1115-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.1115-31_1115-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.1112-31_1112-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.1049-31_1049-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.1049-34_1049-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.1043-31_1043-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.1043-31_1043-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.1043-31_1043-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.1040-31_1040-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.1043-34_1043-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.1040-31_1040-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.1037-31_1037-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.974-31_974-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.971-31_971-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.971-34_971-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.968-31_968-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.971-34_971-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.971-34_971-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.968-31_968-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.932-31_932-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.932-31_932-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.932-31_932-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.929-31_929-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.932-34_932-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.932-34_932-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.929-31_929-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.926-31_926-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.929-34_929-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.926-34_926-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.926-34_926-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.926-34_926-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.926-34_926-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.926-34_926-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.923-31_923-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.923-34_923-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.923-34_923-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.923-34_923-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.923-34_923-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.923-34_923-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.914-31_914-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.908-31_908-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.908-34_908-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.908-34_908-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.908-34_908-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.908-34_908-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.905-31_905-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.905-34_905-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.905-34_905-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.902-31_902-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.1046-31_1046-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.1046-34_1046-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.848-31_848-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.845-31_845-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.848-34_848-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.839-31_839-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.839-31_839-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.839-31_839-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.839-34_839-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.839-34_839-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.839-34_839-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.839-34_839-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.839-34_839-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.836-31_836-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.836-31_836-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.836-31_836-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.836-34_836-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.836-34_836-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.809-31_809-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.806-34_806-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.785-31_785-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.782-31_782-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.782-31_782-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.782-31_782-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.782-34_782-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.722-31_722-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.719-31_719-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.710-31_710-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.710-34_710-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.668-31_668-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.665-31_665-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.545-31_545-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.836-5407_836-5403del - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.838+5759_838+5763del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007294.4:c.4358-31_4358-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007297.4:c.4217-31_4217-27del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.1049-34_1049-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.1049-34_1049-30del - intron variant - [Sequence Ontology: SO:0001627]
- NM_007300.4:c.4424-34_4424-30del - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
22q112 - Chromosomal Variation in Man
22q112 - Chromosomal Variation in Man
-
Ophiomyxa vivipara isolate F167537 cytochrome oxidase subunit I gene, partial cd...
Ophiomyxa vivipara isolate F167537 cytochrome oxidase subunit I gene, partial cds; mitochondrialgi|1015633820|gb|KU895169.1|Nucleotide
-
Triacanthodes anomalus
Triacanthodes anomalusTriacanthodes anomalusBioProject
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004915385 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Sep 13, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV004915385.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.4358-31_4358-27delAAGTA alteration is located in Intron 12 (E) of the BRCA1 gene. This alteration consists of a deletion of 5 nucleotides at nucleotide position c.4358-31 Intron 12 (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jul 15, 2024