Related gene-specific medical variations for Gene (Select 55704) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376504	CCDC88A, 4-BP DEL, 1795ACAA	CCDC88A	Deletion	PEHO-like syndrome	GPathogenic
Select item 3376503	CCDC88A, TRP431TER	CCDC88A	Single nucleotide variant	PEHO-like syndrome	GPathogenic
Select item 3361928	NM_001365480.1(CCDC88A):c.5449C>T (p.Arg1817Ter)	CCDC88A (R1742* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3247482	NC_000002.11:g.(?_55526955)_(55539735_?)del	CCDC88A	Deletion	not provided	GPathogenic
Select item 3247481	NC_000002.11:g.(?_55544322)_(55566804_?)del	CCDC88A	Deletion	not provided	GPathogenic
Select item 3247479	NC_000002.11:g.(?_55615894)_(55616042_?)del	CCDC88A	Deletion	not provided	GPathogenic
Select item 2439807	NM_001365480.1(CCDC88A):c.1340A>G (p.Gln447Arg)	CCDC88A (Q447R)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 2439806	NM_001365480.1(CCDC88A):c.432A>C (p.Arg144Ser)	CCDC88A (R144S)	Single nucleotide variant (missense variant)	PEHO-like syndrome	GUncertain significance
Select item 813593	NM_001365480.1(CCDC88A):c.4265C>G (p.Pro1422Arg)	CCDC88A (P1422R +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance

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