Related gene-specific medical variations for Gene (Select 124093) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439804	NM_001378030.1(CCDC78):c.267+1G>C	CCDC78	Single nucleotide variant (splice donor variant)	Congenital myopathy with internal nuclei and atypical cores	GUncertain significance
Select item 2439802	NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)	CCDC78 (L183P)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores	GUncertain significance
Select item 2439801	NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)	CCDC78 (V150M +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores	GUncertain significance
Select item 623880	NM_001378030.1(CCDC78):c.844del (p.Arg282fs)	CCDC78 (R282fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 257166	NM_001378030.1(CCDC78):c.304C>T (p.Leu102=)	CCDC78	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 257159	NM_001378030.1(CCDC78):c.1323G>A (p.Arg441=)	CCDC78	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign

ClinVar