"Revvity Omics, Revvity"[submitter] AND "CPLANE1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1548594	NM_001384732.1(CPLANE1):c.9244T>A (p.Ser3082Thr)	CPLANE1 (S3028T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 183307	NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)	CPLANE1 (G2717fs)	Deletion (frameshift variant)	Orofaciodigital syndrome type 6 +2 more	GPathogenic
Select item 575398	NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val)	CPLANE1 (E2610V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1583288	NM_001384732.1(CPLANE1):c.7760A>G (p.Glu2587Gly)	CPLANE1 (E2587G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2690557	NM_001384732.1(CPLANE1):c.7533+1G>A	CPLANE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 707689	NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly)	CPLANE1 (R2470G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1030821	NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)	CPLANE1 (P2456L)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GConflicting classifications of pathogenicity
Select item 2149846	NM_001384732.1(CPLANE1):c.6382G>A (p.Ala2128Thr)	CPLANE1 (A2128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439528	NM_001384732.1(CPLANE1):c.5220del (p.Phe1740fs)	CPLANE1 (F1740fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 506803	NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys)	CPLANE1 (T1598K)	Single nucleotide variant (missense variant)	CPLANE1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1504787	NM_001384732.1(CPLANE1):c.4481+4C>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1022442	NM_001384732.1(CPLANE1):c.4261C>T (p.Arg1421Cys)	CPLANE1 (R1421C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456531	NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs)	CPLANE1 (L1386fs)	Duplication (frameshift variant)	Joubert syndrome 17 +1 more	GPathogenic/Likely pathogenic
Select item 2690577	NM_001384732.1(CPLANE1):c.2920G>T (p.Glu974Ter)	CPLANE1 (E974*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1017216	NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp)	CPLANE1 (R408W)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity
Select item 2440524	NM_001384732.1(CPLANE1):c.1081C>T (p.Pro361Ser)	CPLANE1 (P361S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635058	NM_001384732.1(CPLANE1):c.833A>G (p.Lys278Arg)	CPLANE1 (K278R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2440525	NM_001384732.1(CPLANE1):c.376G>A (p.Gly126Arg)	CPLANE1 (G126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance