C4707232[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1016101	NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg)	CCDC78 (G183R +1 more)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores	GUncertain significance
Select item 1704299	NM_001378030.1(CCDC78):c.1053+1G>A	CCDC78	Single nucleotide variant (splice donor variant +1 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 652705	NM_001378030.1(CCDC78):c.923G>A (p.Arg308His)	CCDC78 (R308H +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with internal nuclei and atypical cores	GUncertain significance
Select item 936353	NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp)	CCDC78 (R192W)	Single nucleotide variant (missense variant +2 more)	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 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 503661	NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter)	CCDC78 (R24*)	Single nucleotide variant (nonsense +2 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GUncertain significance