"PreventionGenetics, part of Exact Sciences"[submitter] AND "CCDC78"[g - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2633552	NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro)	CCDC78 (L251P +2 more)	Single nucleotide variant (stop lost +2 more)	CCDC78-related disorder	GUncertain significance
Select item 473252	NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)	CCDC78 (R424K)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores +2 more	GConflicting classifications of pathogenicity
Select item 473251	NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=)	CCDC78 (R414Q)	Single nucleotide variant (missense variant +2 more)	CCDC78-related disorder +1 more	GLikely benign
Select item 257161	NM_001378030.1(CCDC78):c.1134-9C>T	CCDC78	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 257160	NM_001378030.1(CCDC78):c.1133+7G>A	CCDC78	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 540481	NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln)	CCDC78 (R348Q +1 more)	Single nucleotide variant (missense variant +2 more)	CCDC78-related disorder +1 more	GBenign/Likely benign
Select item 2633946	NM_001378030.1(CCDC78):c.954-8C>A	CCDC78	Single nucleotide variant (intron variant)	CCDC78-related disorder	GUncertain significance
Select item 447010	NM_001378030.1(CCDC78):c.953+10G>A	CCDC78	Single nucleotide variant (intron variant)	Congenital myopathy with internal nuclei and atypical cores +2 more	GBenign/Likely benign
Select item 128633	NM_001378030.1(CCDC78):c.937C>T (p.Leu313=)	CCDC78	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 580734	NM_001378030.1(CCDC78):c.874del (p.Leu292fs)	CCDC78 (L292fs +1 more)	Deletion (frameshift variant +1 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GUncertain significance
Select item 707302	NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val)	CCDC78 (A276V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GLikely benign
Select item 257169	NM_001378030.1(CCDC78):c.766-11G>A	CCDC78	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 128631	NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg)	CCDC78 (W252R)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 128630	NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln)	CCDC78 (K238Q)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores +2 more	GBenign/Likely benign
Select item 2193033	NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)	CCDC78	Single nucleotide variant (synonymous variant +2 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GLikely benign
Select item 643484	NM_001378030.1(CCDC78):c.668G>A (p.Arg223His)	CCDC78 (R223H)	Single nucleotide variant (missense variant +2 more)	CCDC78-related disorder +1 more	GLikely benign
Select item 128629	NM_001378030.1(CCDC78):c.549G>A (p.Leu183=)	CCDC78 (G63S)	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 257168	NM_001378030.1(CCDC78):c.493-16C>T	CCDC78 (P39S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 265074	NM_001378030.1(CCDC78):c.492+1G>A	CCDC78 (V14M)	Single nucleotide variant (missense variant +1 more)	CCDC78-related disorder +2 more	GBenign/Likely benign
Select item 257167	NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser)	CCDC78 (G164S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3056565	NM_001378030.1(CCDC78):c.477C>T (p.His159=)	CCDC78	Single nucleotide variant (synonymous variant +1 more)	CCDC78-related disorder	GLikely benign
Select item 2106598	NM_001378030.1(CCDC78):c.436-8C>T	CCDC78	Single nucleotide variant (intron variant)	Congenital myopathy with internal nuclei and atypical cores +1 more	GLikely benign
Select item 447008	NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp)	CCDC78 (E128D)	Single nucleotide variant (missense variant +2 more)	Congenital myopathy with internal nuclei and atypical cores +2 more	GBenign/Likely benign
Select item 540469	NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln)	CCDC78 (R103Q)	Single nucleotide variant (missense variant +2 more)	CCDC78-related disorder +2 more	GLikely benign
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 807334	NM_001378030.1(CCDC78):c.268-3C>T	CCDC78	Single nucleotide variant (intron variant)	CCDC78-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 573422	NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met)	CCDC78 (I61M)	Single nucleotide variant (missense variant +2 more)	CCDC78-related disorder +1 more	GLikely benign
Select item 257165	NM_001378030.1(CCDC78):c.180+19C>G	CCDC78	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257164	NM_001378030.1(CCDC78):c.180+12G>T	CCDC78	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 257162	NM_001378030.1(CCDC78):c.180+11_180+12delinsTT	CCDC78	Indel (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 257163	NM_001378030.1(CCDC78):c.180+11G>T	CCDC78	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 37091	NM_001378030.1(CCDC78):c.61-1G>A	CCDC78	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital myopathy with internal nuclei and atypical cores +1 more	GUncertain significance

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Items: 33