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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:76788942-76788950
GRCh38:
Chr10:75029184-75029192
KAT6B, DUPD1Genitopatellar syndrome, not providedPathogenic
(Feb 10, 2012)
no assertion criteria provided
2.
GRCh37:
Chr10:76788370-76788371
GRCh38:
Chr10:75028612-75028613
KAT6B, DUPD1Genitopatellar syndrome, not providedPathogenic
(Feb 10, 2012)
no assertion criteria provided
3.
GRCh37:
Chr10:76788384
GRCh38:
Chr10:75028626
KAT6B, DUPD1Genitopatellar syndrome, not providedPathogenic
(Feb 10, 2012)
no assertion criteria provided
4.
GRCh37:
Chr10:76788474
GRCh38:
Chr10:75028716
KAT6B, DUPD1Genitopatellar syndrome, not providedPathogenic
(Feb 10, 2012)
no assertion criteria provided
5.
GRCh37:
Chr10:76788351-76788354
GRCh38:
Chr10:75028593-75028596
KAT6B, DUPD1Genitopatellar syndrome, not providedPathogenic
(Dec 13, 2012)
no assertion criteria provided
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