NM_007294.4(BRCA1):c.4096+98_4096+102del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 4, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001538719.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.4096+98_4096+102del]

NM_007294.4(BRCA1):c.4096+98_4096+102del

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.4096+98_4096+102del

HGVS:

NC_000017.11:g.43091333_43091337del
NG_005905.2:g.126647_126651del
NG_087068.1:g.315_319del
NM_001407571.1:c.3883+98_3883+102del
NM_001407581.1:c.4096+98_4096+102del
NM_001407582.1:c.4096+98_4096+102del
NM_001407583.1:c.4096+98_4096+102del
NM_001407585.1:c.4096+98_4096+102del
NM_001407587.1:c.4093+98_4093+102del
NM_001407590.1:c.4093+98_4093+102del
NM_001407591.1:c.4093+98_4093+102del
NM_001407593.1:c.4096+98_4096+102del
NM_001407594.1:c.4096+98_4096+102del
NM_001407596.1:c.4096+98_4096+102del
NM_001407597.1:c.4096+98_4096+102del
NM_001407598.1:c.4096+98_4096+102del
NM_001407602.1:c.4096+98_4096+102del
NM_001407603.1:c.4096+98_4096+102del
NM_001407605.1:c.4096+98_4096+102del
NM_001407610.1:c.4093+98_4093+102del
NM_001407611.1:c.4093+98_4093+102del
NM_001407612.1:c.4093+98_4093+102del
NM_001407613.1:c.4093+98_4093+102del
NM_001407614.1:c.4093+98_4093+102del
NM_001407615.1:c.4093+98_4093+102del
NM_001407616.1:c.4096+98_4096+102del
NM_001407617.1:c.4096+98_4096+102del
NM_001407618.1:c.4096+98_4096+102del
NM_001407619.1:c.4096+98_4096+102del
NM_001407620.1:c.4096+98_4096+102del
NM_001407621.1:c.4096+98_4096+102del
NM_001407622.1:c.4096+98_4096+102del
NM_001407623.1:c.4096+98_4096+102del
NM_001407624.1:c.4096+98_4096+102del
NM_001407625.1:c.4096+98_4096+102del
NM_001407626.1:c.4096+98_4096+102del
NM_001407627.1:c.4093+98_4093+102del
NM_001407628.1:c.4093+98_4093+102del
NM_001407629.1:c.4093+98_4093+102del
NM_001407630.1:c.4093+98_4093+102del
NM_001407631.1:c.4093+98_4093+102del
NM_001407632.1:c.4093+98_4093+102del
NM_001407633.1:c.4093+98_4093+102del
NM_001407634.1:c.4093+98_4093+102del
NM_001407635.1:c.4093+98_4093+102del
NM_001407636.1:c.4093+98_4093+102del
NM_001407637.1:c.4093+98_4093+102del
NM_001407638.1:c.4093+98_4093+102del
NM_001407639.1:c.4096+98_4096+102del
NM_001407640.1:c.4096+98_4096+102del
NM_001407641.1:c.4096+98_4096+102del
NM_001407642.1:c.4096+98_4096+102del
NM_001407644.1:c.4093+98_4093+102del
NM_001407645.1:c.4093+98_4093+102del
NM_001407646.1:c.4087+98_4087+102del
NM_001407647.1:c.4087+98_4087+102del
NM_001407648.1:c.3973+98_3973+102del
NM_001407649.1:c.3970+98_3970+102del
NM_001407652.1:c.4096+98_4096+102del
NM_001407653.1:c.4018+98_4018+102del
NM_001407654.1:c.4018+98_4018+102del
NM_001407655.1:c.4018+98_4018+102del
NM_001407656.1:c.4018+98_4018+102del
NM_001407657.1:c.4018+98_4018+102del
NM_001407658.1:c.4018+98_4018+102del
NM_001407659.1:c.4015+98_4015+102del
NM_001407660.1:c.4015+98_4015+102del
NM_001407661.1:c.4015+98_4015+102del
NM_001407662.1:c.4015+98_4015+102del
NM_001407663.1:c.4018+98_4018+102del
NM_001407664.1:c.3973+98_3973+102del
NM_001407665.1:c.3973+98_3973+102del
NM_001407666.1:c.3973+98_3973+102del
NM_001407667.1:c.3973+98_3973+102del
NM_001407668.1:c.3973+98_3973+102del
NM_001407669.1:c.3973+98_3973+102del
NM_001407670.1:c.3970+98_3970+102del
NM_001407671.1:c.3970+98_3970+102del
NM_001407672.1:c.3970+98_3970+102del
NM_001407673.1:c.3970+98_3970+102del
NM_001407674.1:c.3973+98_3973+102del
NM_001407675.1:c.3973+98_3973+102del
NM_001407676.1:c.3973+98_3973+102del
NM_001407677.1:c.3973+98_3973+102del
NM_001407678.1:c.3973+98_3973+102del
NM_001407679.1:c.3973+98_3973+102del
NM_001407680.1:c.3973+98_3973+102del
NM_001407681.1:c.3973+98_3973+102del
NM_001407682.1:c.3973+98_3973+102del
NM_001407683.1:c.3973+98_3973+102del
NM_001407684.1:c.4096+98_4096+102del
NM_001407685.1:c.3970+98_3970+102del
NM_001407686.1:c.3970+98_3970+102del
NM_001407687.1:c.3970+98_3970+102del
NM_001407688.1:c.3970+98_3970+102del
NM_001407689.1:c.3970+98_3970+102del
NM_001407690.1:c.3970+98_3970+102del
NM_001407691.1:c.3970+98_3970+102del
NM_001407692.1:c.3955+98_3955+102del
NM_001407694.1:c.3955+98_3955+102del
NM_001407695.1:c.3955+98_3955+102del
NM_001407696.1:c.3955+98_3955+102del
NM_001407697.1:c.3955+98_3955+102del
NM_001407698.1:c.3955+98_3955+102del
NM_001407724.1:c.3955+98_3955+102del
NM_001407725.1:c.3955+98_3955+102del
NM_001407726.1:c.3955+98_3955+102del
NM_001407727.1:c.3955+98_3955+102del
NM_001407728.1:c.3955+98_3955+102del
NM_001407729.1:c.3955+98_3955+102del
NM_001407730.1:c.3955+98_3955+102del
NM_001407731.1:c.3955+98_3955+102del
NM_001407732.1:c.3955+98_3955+102del
NM_001407733.1:c.3955+98_3955+102del
NM_001407734.1:c.3955+98_3955+102del
NM_001407735.1:c.3955+98_3955+102del
NM_001407736.1:c.3955+98_3955+102del
NM_001407737.1:c.3955+98_3955+102del
NM_001407738.1:c.3955+98_3955+102del
NM_001407739.1:c.3955+98_3955+102del
NM_001407740.1:c.3952+98_3952+102del
NM_001407741.1:c.3952+98_3952+102del
NM_001407742.1:c.3952+98_3952+102del
NM_001407743.1:c.3952+98_3952+102del
NM_001407744.1:c.3952+98_3952+102del
NM_001407745.1:c.3952+98_3952+102del
NM_001407746.1:c.3952+98_3952+102del
NM_001407747.1:c.3952+98_3952+102del
NM_001407748.1:c.3952+98_3952+102del
NM_001407749.1:c.3952+98_3952+102del
NM_001407750.1:c.3955+98_3955+102del
NM_001407751.1:c.3955+98_3955+102del
NM_001407752.1:c.3955+98_3955+102del
NM_001407838.1:c.3952+98_3952+102del
NM_001407839.1:c.3952+98_3952+102del
NM_001407841.1:c.3952+98_3952+102del
NM_001407842.1:c.3952+98_3952+102del
NM_001407843.1:c.3952+98_3952+102del
NM_001407844.1:c.3952+98_3952+102del
NM_001407845.1:c.3952+98_3952+102del
NM_001407846.1:c.3952+98_3952+102del
NM_001407847.1:c.3952+98_3952+102del
NM_001407848.1:c.3952+98_3952+102del
NM_001407849.1:c.3952+98_3952+102del
NM_001407850.1:c.3955+98_3955+102del
NM_001407851.1:c.3955+98_3955+102del
NM_001407852.1:c.3955+98_3955+102del
NM_001407853.1:c.3883+98_3883+102del
NM_001407854.1:c.4096+98_4096+102del
NM_001407858.1:c.4096+98_4096+102del
NM_001407859.1:c.4096+98_4096+102del
NM_001407860.1:c.4093+98_4093+102del
NM_001407861.1:c.4093+98_4093+102del
NM_001407862.1:c.3895+98_3895+102del
NM_001407863.1:c.3973+98_3973+102del
NM_001407874.1:c.3892+98_3892+102del
NM_001407875.1:c.3892+98_3892+102del
NM_001407879.1:c.3886+98_3886+102del
NM_001407881.1:c.3886+98_3886+102del
NM_001407882.1:c.3886+98_3886+102del
NM_001407884.1:c.3886+98_3886+102del
NM_001407885.1:c.3886+98_3886+102del
NM_001407886.1:c.3886+98_3886+102del
NM_001407887.1:c.3886+98_3886+102del
NM_001407889.1:c.3886+98_3886+102del
NM_001407894.1:c.3883+98_3883+102del
NM_001407895.1:c.3883+98_3883+102del
NM_001407896.1:c.3883+98_3883+102del
NM_001407897.1:c.3883+98_3883+102del
NM_001407898.1:c.3883+98_3883+102del
NM_001407899.1:c.3883+98_3883+102del
NM_001407900.1:c.3886+98_3886+102del
NM_001407902.1:c.3886+98_3886+102del
NM_001407904.1:c.3886+98_3886+102del
NM_001407906.1:c.3886+98_3886+102del
NM_001407907.1:c.3886+98_3886+102del
NM_001407908.1:c.3886+98_3886+102del
NM_001407909.1:c.3886+98_3886+102del
NM_001407910.1:c.3886+98_3886+102del
NM_001407915.1:c.3883+98_3883+102del
NM_001407916.1:c.3883+98_3883+102del
NM_001407917.1:c.3883+98_3883+102del
NM_001407918.1:c.3883+98_3883+102del
NM_001407919.1:c.3973+98_3973+102del
NM_001407920.1:c.3832+98_3832+102del
NM_001407921.1:c.3832+98_3832+102del
NM_001407922.1:c.3832+98_3832+102del
NM_001407923.1:c.3832+98_3832+102del
NM_001407924.1:c.3832+98_3832+102del
NM_001407925.1:c.3832+98_3832+102del
NM_001407926.1:c.3832+98_3832+102del
NM_001407927.1:c.3832+98_3832+102del
NM_001407928.1:c.3832+98_3832+102del
NM_001407929.1:c.3832+98_3832+102del
NM_001407930.1:c.3829+98_3829+102del
NM_001407931.1:c.3829+98_3829+102del
NM_001407932.1:c.3829+98_3829+102del
NM_001407933.1:c.3832+98_3832+102del
NM_001407934.1:c.3829+98_3829+102del
NM_001407935.1:c.3832+98_3832+102del
NM_001407936.1:c.3829+98_3829+102del
NM_001407937.1:c.3973+98_3973+102del
NM_001407938.1:c.3973+98_3973+102del
NM_001407939.1:c.3973+98_3973+102del
NM_001407940.1:c.3970+98_3970+102del
NM_001407941.1:c.3970+98_3970+102del
NM_001407942.1:c.3955+98_3955+102del
NM_001407943.1:c.3952+98_3952+102del
NM_001407944.1:c.3955+98_3955+102del
NM_001407945.1:c.3955+98_3955+102del
NM_001407946.1:c.3763+98_3763+102del
NM_001407947.1:c.3763+98_3763+102del
NM_001407948.1:c.3763+98_3763+102del
NM_001407949.1:c.3763+98_3763+102del
NM_001407950.1:c.3763+98_3763+102del
NM_001407951.1:c.3763+98_3763+102del
NM_001407952.1:c.3763+98_3763+102del
NM_001407953.1:c.3763+98_3763+102del
NM_001407954.1:c.3760+98_3760+102del
NM_001407955.1:c.3760+98_3760+102del
NM_001407956.1:c.3760+98_3760+102del
NM_001407957.1:c.3763+98_3763+102del
NM_001407958.1:c.3760+98_3760+102del
NM_001407959.1:c.3715+98_3715+102del
NM_001407960.1:c.3715+98_3715+102del
NM_001407962.1:c.3712+98_3712+102del
NM_001407963.1:c.3715+98_3715+102del
NM_001407964.1:c.3952+98_3952+102del
NM_001407965.1:c.3592+98_3592+102del
NM_001407966.1:c.3208+98_3208+102del
NM_001407967.1:c.3208+98_3208+102del
NM_001407968.1:c.1492+98_1492+102del
NM_001407969.1:c.1492+98_1492+102del
NM_001407970.1:c.788-305_788-301del
NM_001407971.1:c.788-305_788-301del
NM_001407972.1:c.785-305_785-301del
NM_001407973.1:c.788-305_788-301del
NM_001407974.1:c.788-305_788-301del
NM_001407975.1:c.788-305_788-301del
NM_001407976.1:c.788-305_788-301del
NM_001407977.1:c.788-305_788-301del
NM_001407978.1:c.788-305_788-301del
NM_001407979.1:c.788-305_788-301del
NM_001407980.1:c.788-305_788-301del
NM_001407981.1:c.788-305_788-301del
NM_001407982.1:c.788-305_788-301del
NM_001407983.1:c.788-305_788-301del
NM_001407984.1:c.785-305_785-301del
NM_001407985.1:c.785-305_785-301del
NM_001407986.1:c.785-305_785-301del
NM_001407990.1:c.788-305_788-301del
NM_001407991.1:c.785-305_785-301del
NM_001407992.1:c.785-305_785-301del
NM_001407993.1:c.788-305_788-301del
NM_001408392.1:c.785-305_785-301del
NM_001408396.1:c.785-305_785-301del
NM_001408397.1:c.785-305_785-301del
NM_001408398.1:c.785-305_785-301del
NM_001408399.1:c.785-305_785-301del
NM_001408400.1:c.785-305_785-301del
NM_001408401.1:c.785-305_785-301del
NM_001408402.1:c.785-305_785-301del
NM_001408403.1:c.788-305_788-301del
NM_001408404.1:c.788-305_788-301del
NM_001408406.1:c.791-314_791-310del
NM_001408407.1:c.785-305_785-301del
NM_001408408.1:c.779-305_779-301del
NM_001408409.1:c.710-305_710-301del
NM_001408410.1:c.647-305_647-301del
NM_001408411.1:c.710-305_710-301del
NM_001408412.1:c.710-305_710-301del
NM_001408413.1:c.707-305_707-301del
NM_001408414.1:c.710-305_710-301del
NM_001408415.1:c.710-305_710-301del
NM_001408416.1:c.707-305_707-301del
NM_001408418.1:c.671-305_671-301del
NM_001408419.1:c.671-305_671-301del
NM_001408420.1:c.671-305_671-301del
NM_001408421.1:c.668-305_668-301del
NM_001408422.1:c.671-305_671-301del
NM_001408423.1:c.671-305_671-301del
NM_001408424.1:c.668-305_668-301del
NM_001408425.1:c.665-305_665-301del
NM_001408426.1:c.665-305_665-301del
NM_001408427.1:c.665-305_665-301del
NM_001408428.1:c.665-305_665-301del
NM_001408429.1:c.665-305_665-301del
NM_001408430.1:c.665-305_665-301del
NM_001408431.1:c.668-305_668-301del
NM_001408432.1:c.662-305_662-301del
NM_001408433.1:c.662-305_662-301del
NM_001408434.1:c.662-305_662-301del
NM_001408435.1:c.662-305_662-301del
NM_001408436.1:c.665-305_665-301del
NM_001408437.1:c.665-305_665-301del
NM_001408438.1:c.665-305_665-301del
NM_001408439.1:c.665-305_665-301del
NM_001408440.1:c.665-305_665-301del
NM_001408441.1:c.665-305_665-301del
NM_001408442.1:c.665-305_665-301del
NM_001408443.1:c.665-305_665-301del
NM_001408444.1:c.665-305_665-301del
NM_001408445.1:c.662-305_662-301del
NM_001408446.1:c.662-305_662-301del
NM_001408447.1:c.662-305_662-301del
NM_001408448.1:c.662-305_662-301del
NM_001408450.1:c.662-305_662-301del
NM_001408451.1:c.653-305_653-301del
NM_001408452.1:c.647-305_647-301del
NM_001408453.1:c.647-305_647-301del
NM_001408454.1:c.647-305_647-301del
NM_001408455.1:c.647-305_647-301del
NM_001408456.1:c.647-305_647-301del
NM_001408457.1:c.647-305_647-301del
NM_001408458.1:c.647-305_647-301del
NM_001408459.1:c.647-305_647-301del
NM_001408460.1:c.647-305_647-301del
NM_001408461.1:c.647-305_647-301del
NM_001408462.1:c.644-305_644-301del
NM_001408463.1:c.644-305_644-301del
NM_001408464.1:c.644-305_644-301del
NM_001408465.1:c.644-305_644-301del
NM_001408466.1:c.647-305_647-301del
NM_001408467.1:c.647-305_647-301del
NM_001408468.1:c.644-305_644-301del
NM_001408469.1:c.647-305_647-301del
NM_001408470.1:c.644-305_644-301del
NM_001408472.1:c.788-305_788-301del
NM_001408473.1:c.785-305_785-301del
NM_001408474.1:c.587-305_587-301del
NM_001408475.1:c.584-305_584-301del
NM_001408476.1:c.587-305_587-301del
NM_001408478.1:c.578-305_578-301del
NM_001408479.1:c.578-305_578-301del
NM_001408480.1:c.578-305_578-301del
NM_001408481.1:c.578-305_578-301del
NM_001408482.1:c.578-305_578-301del
NM_001408483.1:c.578-305_578-301del
NM_001408484.1:c.578-305_578-301del
NM_001408485.1:c.578-305_578-301del
NM_001408489.1:c.578-305_578-301del
NM_001408490.1:c.575-305_575-301del
NM_001408491.1:c.575-305_575-301del
NM_001408492.1:c.578-305_578-301del
NM_001408493.1:c.575-305_575-301del
NM_001408494.1:c.548-305_548-301del
NM_001408495.1:c.545-305_545-301del
NM_001408496.1:c.524-305_524-301del
NM_001408497.1:c.524-305_524-301del
NM_001408498.1:c.524-305_524-301del
NM_001408499.1:c.524-305_524-301del
NM_001408500.1:c.524-305_524-301del
NM_001408501.1:c.524-305_524-301del
NM_001408502.1:c.455-305_455-301del
NM_001408503.1:c.521-305_521-301del
NM_001408504.1:c.521-305_521-301del
NM_001408505.1:c.521-305_521-301del
NM_001408506.1:c.461-305_461-301del
NM_001408507.1:c.461-305_461-301del
NM_001408508.1:c.452-305_452-301del
NM_001408509.1:c.452-305_452-301del
NM_001408510.1:c.407-305_407-301del
NM_001408511.1:c.404-305_404-301del
NM_001408512.1:c.284-305_284-301del
NM_001408513.1:c.578-305_578-301del
NM_001408514.1:c.578-305_578-301del
NM_007294.4:c.4096+98_4096+102delMANE SELECT
NM_007297.4:c.3955+98_3955+102del
NM_007298.4:c.788-305_788-301del
NM_007299.4:c.788-305_788-301del
NM_007300.4:c.4096+98_4096+102del
LRG_292t1:c.4096+98_4096+102del
LRG_292:g.126647_126651del
NC_000017.10:g.41243350_41243354del
NM_007294.3:c.4096+98_4096+102delTAGTT

Links:

dbSNP: rs750547789

NCBI 1000 Genomes Browser:

rs750547789

Molecular consequence:

NM_001407571.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.4087+98_4087+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.4087+98_4087+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.4015+98_4015+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.4015+98_4015+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.4015+98_4015+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.4015+98_4015+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.4018+98_4018+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.4093+98_4093+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.3895+98_3895+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.3892+98_3892+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.3892+98_3892+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.3886+98_3886+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.3883+98_3883+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.3829+98_3829+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.3829+98_3829+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.3829+98_3829+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.3829+98_3829+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.3832+98_3832+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.3829+98_3829+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.3973+98_3973+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.3970+98_3970+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.3760+98_3760+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.3760+98_3760+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.3760+98_3760+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.3763+98_3763+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.3760+98_3760+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.3715+98_3715+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.3715+98_3715+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.3712+98_3712+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.3715+98_3715+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.3952+98_3952+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.3592+98_3592+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.3208+98_3208+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.3208+98_3208+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.1492+98_1492+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.1492+98_1492+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-314_791-310del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-305_779-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-305_710-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-305_710-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-305_710-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-305_707-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-305_710-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-305_710-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-305_707-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-305_671-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-305_671-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-305_671-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-305_668-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-305_671-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-305_671-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-305_668-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-305_668-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-305_665-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-305_662-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-305_653-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-305_647-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-305_644-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-305_785-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-305_587-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-305_584-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-305_587-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-305_575-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-305_575-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-305_575-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-305_548-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-305_545-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-305_524-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-305_455-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-305_521-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-305_521-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-305_521-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-305_461-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-305_461-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-305_452-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-305_452-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-305_407-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-305_404-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-305_284-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-305_578-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.3955+98_3955+102del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-305_788-301del - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.4096+98_4096+102del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001756404	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 4, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001756404

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Apr 4, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001756404.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 28664506)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine