"GeneDx"[submitter] AND "TTC14"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 344258	NM_181426.2(CCDC39):c.*133A>T	CCDC39, TTC14	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 14 +1 more	GBenign
Select item 940185	NM_181426.2(CCDC39):c.2795G>A (p.Ser932Asn)	CCDC39, TTC14 (S932N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1199510	NM_181426.2(CCDC39):c.2670-90T>C	TTC14, CCDC39	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244475	NM_181426.2(CCDC39):c.2670-126C>T	CCDC39, TTC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286735	NM_181426.2(CCDC39):c.2669+193C>G	CCDC39, TTC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 219718	NM_181426.2(CCDC39):c.2548A>G (p.Thr850Ala)	CCDC39, TTC14 (T850A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 162838	NM_181426.2(CCDC39):c.2432G>A (p.Arg811His)	CCDC39, TTC14 (R811H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 162839	NM_181426.2(CCDC39):c.2397G>A (p.Val799=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 162840	NM_181426.2(CCDC39):c.2301G>A (p.Leu767=)	CCDC39, TTC14	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic