"Baylor Genetics"[submitter] AND "CPLANE1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030823	NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter)	CPLANE1 (R2962* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 689747	NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His)	CPLANE1 (R2961H +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 197492	NM_001384732.1(CPLANE1):c.8462-1G>C	CPLANE1	Single nucleotide variant (splice acceptor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 217566	NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter)	CPLANE1 (R2660* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1030821	NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu)	CPLANE1 (P2456L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445989	NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln)	CPLANE1 (R2171Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 452723	NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp)	CPLANE1 (N2110D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1002773	NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile)	CPLANE1 (R2101I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 689748	NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly)	CPLANE1 (E1959G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 838000	NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter)	CPLANE1 (Q1853*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +2 more	GPathogenic
Select item 917926	NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu)	CPLANE1 (F1543L)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GUncertain significance
Select item 452725	NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn)	CPLANE1, LOC129389274 (S1487N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 928879	NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys)	CPLANE1 (Y882C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1029873	NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile)	CPLANE1 (V805I)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1031355	NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr)	CPLANE1 (I582T)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GUncertain significance
Select item 1031353	NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys)	CPLANE1 (E516K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 392297	NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)	CPLANE1 (R424*)	Single nucleotide variant (nonsense)	Orofaciodigital syndrome type 6 +2 more	GPathogenic/Likely pathogenic
Select item 905940	NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser)	CPLANE1 (P366S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1001752	NM_001384732.1(CPLANE1):c.977G>A (p.Ser326Asn)	CPLANE1 (S326N)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GUncertain significance