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    Items: 1 to 100 of 234

    Variation
    Gene
    (Protein Change)
    Type
    (Consequence)
    ConditionClassification, Review status
    IL17RA, LINC01640
    +2088 more
    Copy number gain
    See cases
    GPathogenic
    LOC130067403, LOC130067404
    +2088 more
    Copy number gain
    See cases
    GPathogenic
    LOC130067651, LOC130067652
    +1004 more
    Copy number gain
    See cases
    GPathogenic
    LOC130067596, LOC130067597
    +687 more
    Copy number gain
    See cases
    GPathogenic
    A4GALT, ACR
    +580 more
    Copy number loss
    See cases
    GPathogenic
    LOC126863184, LOC126863185
    +541 more
    Copy number gain
    See cases
    GPathogenic
    LOC126863187, LOC126863188
    +523 more
    Copy number gain
    See cases
    GPathogenic
    A4GALT, ACR
    +521 more
    Copy number loss
    See cases
    GPathogenic
    A4GALT, ADM2
    +502 more
    Copy number gain
    See cases
    GPathogenic
    LOC126863187, LOC126863188
    +495 more
    Copy number gain
    See cases
    GPathogenic
    CIMAP1B, CPT1B
    +492 more
    Copy number gain
    See cases
    GPathogenic
    LOC130067640, LOC130067641
    +483 more
    Copy number loss
    See cases
    GPathogenic
    ADM2, ALG12
    +481 more
    Copy number loss
    See cases
    GPathogenic
    CRELD2, DENND6B
    +471 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +451 more
    Copy number loss
    See cases
    GPathogenic
    DENND6B, EFCAB6
    +443 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +441 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +434 more
    Copy number loss
    See cases
    GPathogenic
    ADM2, ALG12
    +428 more
    Copy number gain
    See cases
    GBenign
    LOC121627953, LOC121627954
    +411 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    CHKB, LOC112695108
    +404 more
    Copy number loss
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +401 more
    Copy number loss
    See cases
    GPathogenic
    CPT1B, CRELD2
    +401 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +396 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +396 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +396 more
    Copy number gain
    See cases
    GPathogenic
    LOC130067697, LOC130067698
    +396 more
    Copy number gain
    See cases
    GPathogenic
    ACR, ADM2
    +371 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +343 more
    Copy number loss
    See cases
    GPathogenic
    TRABD, TRABD-AS1
    +338 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ADM2, ALG12
    +333 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +315 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +295 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    LOC130067809, LOC130067810
    +288 more
    Copy number loss
    See cases
    GPathogenic
    LOC130067779, LOC130067780
    +281 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    LOC126863185, LOC126863186
    +282 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +260 more
    Copy number loss
    See cases
    GPathogenic
    LOC130067846, LOC130067847
    +240 more
    Copy number loss
    See cases
    GPathogenic
    LOC126863173, LOC126863174
    +235 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +230 more
    Copy number loss
    See cases
    GPathogenic
    LOC126863188, LOC129391286
    +228 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +226 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    LOC130067774, LOC130067775
    +221 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +221 more
    Copy number loss
    See cases
    GPathogenic
    LOC130067781, LOC130067782
    +221 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +211 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +210 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +206 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    LOC126863183, LOC126863184
    +207 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +207 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +204 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +204 more
    Copy number loss
    See cases
    GPathogenic
    DENND6B, HDAC10
    +190 more
    Deletion
    Phelan-McDermid syndrome
    GPathogenic
    ACR, ADM2
    +186 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +185 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +185 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +185 more
    Copy number loss
    See cases
    GPathogenic
    LOC121853048, LOC125446259
    +184 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +185 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +178 more
    Copy number loss
    Phelan-McDermid syndrome
    GPathogenic
    ACR, LOC130067783
    +166 more
    Duplication
    Chromosome 22q13 duplication syndrome
    GPathogenic
    LOC130067853, LOC130067854
    +117 more
    Duplication
    not provided
    GUncertain significance
    ADM2, ARSA
    +123 more
    Copy number gain
    See cases
    GUncertain significance
    ACR, ADM2
    +124 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ADM2
    +84 more
    Copy number gain
    See cases
    GBenign
    ADM2, CHKB
    +52 more
    Copy number gain
    See cases
    GUncertain significance
    ADM2, CHKB
    +52 more
    Copy number gain
    See cases
    GUncertain significance
    ACR, ADM2
    +55 more
    Copy number loss
    See cases
    GPathogenic
    ACR, ARSA
    +23 more
    Copy number gain
    See cases
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (S738T +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (S738R +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    Single nucleotide variant
    (synonymous variant +1 more)
    not provided
    GBenign
    CHKB-CPT1B, CPT1B
    (A736V +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (D763G +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R749C +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (T711M +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R661H +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (Q657fs +1 more)
    Deletion
    (frameshift variant +1 more)
    CPT1B-related disorder
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (Q688H +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    Single nucleotide variant
    (intron variant)
    CPT1B-related disorder
    GLikely benign
    CHKB-CPT1B, CPT1B
    (S670N +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (V669L +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (G616R +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (M614V +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R611H +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    Single nucleotide variant
    (intron variant)
    not provided
    GBenign
    CHKB-CPT1B, CPT1B
    (S623F +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (E621K +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R572H +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R564P +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (R582K +1 more)
    Single nucleotide variant
    (missense variant)
    not specified
    GLikely benign
    CHKB-CPT1B, CPT1B
    (K527N +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (L558V +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (C514G +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (V536M +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (Y464H +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (W451* +1 more)
    Single nucleotide variant
    (nonsense +1 more)
    CPT1B-related disorder
    GUncertain significance
    CHKB-CPT1B, CPT1B
    Single nucleotide variant
    (synonymous variant +1 more)
    not provided
    GBenign
    CHKB-CPT1B, CPT1B
    (L425V +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
    CHKB-CPT1B, CPT1B
    (F423L +1 more)
    Single nucleotide variant
    (missense variant +1 more)
    not specified
    GUncertain significance
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