"GeneDx"[submitter] AND "CCDC174"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 1253075	NM_016474.5(CCDC174):c.148-203del	CCDC174	Deletion (intron variant)	not provided	GBenign
Select item 1253287	NM_016474.5(CCDC174):c.248+182A>G	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241316	NM_016474.5(CCDC174):c.308-182dup	CCDC174	Duplication (intron variant)	not provided	GBenign
Select item 1192653	NM_016474.5(CCDC174):c.308-55C>A	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 1294666	NM_016474.5(CCDC174):c.485+47G>A	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258478	NM_016474.5(CCDC174):c.485+83C>T	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192654	NM_016474.5(CCDC174):c.485+83C>G	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 1224297	NM_016474.5(CCDC174):c.485+188ATAATTACA[2]	CCDC174	Microsatellite (intron variant)	not provided	GBenign
Select item 1275138	NM_016474.5(CCDC174):c.581+116ATTG[7]	CCDC174	Microsatellite (intron variant)	not provided	GBenign
Select item 1286164	NM_016474.5(CCDC174):c.581+140A>G	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220570	NM_016474.5(CCDC174):c.581+140_581+141insTTGG	CCDC174	Insertion (intron variant)	not provided	GBenign
Select item 1192655	NM_016474.5(CCDC174):c.725-13A>G	CCDC174	Single nucleotide variant (intron variant)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign
Select item 1273516	NM_016474.5(CCDC174):c.819+33G>C	CCDC174	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783368	NM_016474.5(CCDC174):c.1044C>A (p.Val348=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GBenign/Likely benign
Select item 1192656	NM_016474.5(CCDC174):c.1176G>A (p.Pro392=)	CCDC174	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1274256	NM_016474.5(CCDC174):c.*167C>T	CCDC174, LOC126806614	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign