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Items: 5

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
RSPH4AKartagener syndromePathogenic
(Sep 3, 2015)
no assertion criteria provided
2.
GRCh37:
Chr6:116937952
GRCh38:
Chr6:116616789
RSPH4AKartagener syndromePathogenic
(Sep 3, 2015)
no assertion criteria provided
3.
GRCh37:
Chr6:116938111
GRCh38:
Chr6:116616948
RSPH4ACiliary dyskinesia, primary, 11GO-ESP:0.00008(T)Pathogenic
(Sep 15, 2011)
no assertion criteria provided
4.
GRCh37:
Chr6:116938246
GRCh38:
Chr6:116617083
RSPH4ACiliary dyskinesia, primary, 11Pathogenic
(Sep 15, 2011)
no assertion criteria provided
5.
GRCh37:
Chr6:116949338
GRCh38:
Chr6:116628175
RSPH4ACiliary dyskinesia, primary, 11Pathogenic
(Sep 15, 2011)
no assertion criteria provided
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