ClinVar for MedGen (Select 462615) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709041	NM_002667.5(PLN):c.63_64del (p.Gln22fs)	CEP85L, PLN (Q22fs)	Deletion (frameshift variant +1 more)	Hypertrophic cardiomyopathy 18	GLikely pathogenic
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 1029623	NM_002667.5(PLN):c.61C>T (p.Pro21Ser)	CEP85L, PLN (P21S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 18	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 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 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
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 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 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 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 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 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 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 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 220851	NC_000006.12:g.118548254C>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P +1 more	GUncertain significance
Select item 202184	NM_002667.5(PLN):c.131T>C (p.Leu44Pro)	CEP85L, PLN (L44P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 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 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 44580	NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	CEP85L, PLN (R14del)	Microsatellite (inframe_indel +2 more)	SUDDEN INFANT DEATH SYNDROME +6 more	GConflicting classifications of pathogenicity
Select item 29836	NC_000006.12:g.118548219A>G	CEP85L, PLN	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1P	GUncertain significance
Select item 13637	NM_002667.5(PLN):c.116T>G (p.Leu39Ter)	PLN, CEP85L (L39*)	Single nucleotide variant (nonsense +1 more)	Hypertrophic cardiomyopathy 18 +7 more	GPathogenic/Likely pathogenic

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Items: 21