"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CEP85L"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1504806	NC_000006.12:g.118548182T>C	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 220851	NC_000006.12:g.118548254C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 355134	NM_002667.5(PLN):c.-142T>A	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 355135	NM_002667.5(PLN):c.-120C>T	CEP85L, PLN	Single nucleotide variant (5 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 573774	NM_002667.5(PLN):c.53T>C (p.Ile18Thr)	CEP85L, PLN (I18T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1P +4 more	GUncertain significance
Select item 44582	NM_002667.5(PLN):c.61C>A (p.Pro21Thr)	CEP85L, PLN (P21T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 202036	NM_002667.5(PLN):c.145G>A (p.Val49Met)	CEP85L, PLN (V49M)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 18 +4 more	GUncertain significance
Select item 907406	NM_002667.5(PLN):c.*277A>G	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 355142	NM_002667.5(PLN):c.*415T>C	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355147	NM_002667.5(PLN):c.*891C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 907408	NM_002667.5(PLN):c.*1007T>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance
Select item 355149	NM_002667.5(PLN):c.*1135C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355152	NM_002667.5(PLN):c.*1225C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 355153	NM_002667.5(PLN):c.*1243C>T	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 904851	NM_002667.5(PLN):c.*1279G>A	CEP85L, PLN	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 18 +1 more	GUncertain significance