ClinVar for MedGen (Select 902080) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688726	NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)	CCDC174 (E287D +1 more)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
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 1192655	NM_016474.5(CCDC174):c.725-13A>G	CCDC174	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192654	NM_016474.5(CCDC174):c.485+83C>G	CCDC174	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192653	NM_016474.5(CCDC174):c.308-55C>A	CCDC174	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1029607	NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser)	CCDC174 (F29S)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +2 more	GUncertain significance
Select item 1029606	NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu)	CCDC174 (R174L)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
Select item 1029605	NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser)	CCDC174 (P158S)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome +1 more	GUncertain significance
Select item 1029604	NM_016474.5(CCDC174):c.1183G>C (p.Asp395His)	CCDC174 (D395H)	Single nucleotide variant (missense variant +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GUncertain significance
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 222080	NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp)	CCDC174, LOC126806614	Single nucleotide variant (stop lost +1 more)	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	GPathogenic