ClinVar for MedGen (Select 1719546) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064370	NM_001042475.3(CEP85L):c.2089C>T (p.Gln697Ter)	CEP85L (Q697* +1 more)	Single nucleotide variant (nonsense)	Lissencephaly 10	GLikely pathogenic
Select item 3027447	NM_001178035.2(CEP85L):c.57_60del (p.Ser20fs)	CEP85L (S20fs)	Deletion (frameshift variant)	Lissencephaly 10	GLikely pathogenic
Select item 2671640	NM_001042475.3(CEP85L):c.1262A>C (p.Gln421Pro)	CEP85L (Q421P +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2664222	NM_001042475.3(CEP85L):c.1994T>C (p.Val665Ala)	CEP85L (V665A +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2439919	NM_001042475.3(CEP85L):c.34G>C (p.Gly12Arg)	CEP85L, LOC129997071 (G12R)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 10	GUncertain significance
Select item 2439918	NM_001042475.3(CEP85L):c.451del (p.Arg151fs)	CEP85L (R151fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439917	NM_001042475.3(CEP85L):c.1871_1874del (p.Asp624fs)	CEP85L (D624fs +1 more)	Deletion (frameshift variant)	Lissencephaly 10	GUncertain significance
Select item 2439916	NM_001042475.3(CEP85L):c.1590+3A>T	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GUncertain significance
Select item 2439915	NM_001042475.3(CEP85L):c.1103A>G (p.Glu368Gly)	CEP85L (E368G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 2439914	NM_001042475.3(CEP85L):c.2135T>C (p.Ile712Thr)	CEP85L (I712T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 1709317	NM_001042475.3(CEP85L):c.452G>A (p.Arg151Gln)	CEP85L (R151Q +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 1406145	NM_001042475.3(CEP85L):c.173G>A (p.Ser58Asn)	CEP85L (S58N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1330390	NM_001042475.3(CEP85L):c.1020+17468G>A	CEP85L	Single nucleotide variant (intron variant)	Lissencephaly 10	GLikely benign
Select item 1328549	NM_001042475.3(CEP85L):c.442A>G (p.Lys148Glu)	CEP85L (K148E +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 1325611	NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly)	CEP85L (W3G)	Single nucleotide variant (missense variant)	Lissencephaly 10	GUncertain significance
Select item 1209728	NM_001042475.3(CEP85L):c.-9T>C	CEP85L, LOC129997071	Single nucleotide variant (5 prime UTR variant +1 more)	Lissencephaly 10	GBenign
Select item 1209727	NM_001042475.3(CEP85L):c.409A>G (p.Ser137Gly)	CEP85L (S137G +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GBenign
Select item 1209726	NM_001042475.3(CEP85L):c.751C>A (p.Pro251Thr)	CEP85L (P251T +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GBenign
Select item 872893	NM_001042475.3(CEP85L):c.232+5G>A	CEP85L	Single nucleotide variant (intron variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 872892	NM_001042475.3(CEP85L):c.232+3G>T	CEP85L	Single nucleotide variant (intron variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 872891	NM_001042475.3(CEP85L):c.203T>C (p.Ile68Thr)	CEP85L (I68T +1 more)	Single nucleotide variant (missense variant)	Posterior Predominant Lissencephaly +1 more	GPathogenic/Likely pathogenic
Select item 872890	NM_001042475.3(CEP85L):c.193G>A (p.Asp65Asn)	CEP85L (D65N +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 10	GLikely pathogenic
Select item 872889	NM_001042475.3(CEP85L):c.2T>C (p.Met1Thr)	CEP85L, LOC129997071 (M1T)	Single nucleotide variant (missense variant +2 more)	Lissencephaly 10	GPathogenic
Select item 438602	NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe)	CEP85L (S64F +1 more)	Single nucleotide variant (missense variant)	Lissencephaly +1 more	GUncertain significance
Select item 403328	NM_001042475.3(CEP85L):c.1020+17269T>G	CEP85L, PLN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign

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Items: 25