CPLANE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 57962	GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3	CPLANE1, CPLANE1-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 57963	GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3	CPLANE1, CPLANE1-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 147552	GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3	CPLANE1, CPLANE1-AS1 +18 more	Copy number gain	See cases	GUncertain significance
Select item 549895	Single allele	CPLANE1	Deletion	not specified	GBenign
Select item 353399	NM_023073.3(CPLANE1):c.*1369C>A	CPLANE1	Single nucleotide variant (genic downstream transcript variant)	Joubert syndrome 17	GUncertain significance
Select item 353400	NM_001384732.1(CPLANE1):c.*1318A>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 906678	NM_001384732.1(CPLANE1):c.*897C>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353401	NM_001384732.1(CPLANE1):c.*889A>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GBenign
Select item 353402	NM_001384732.1(CPLANE1):c.*872A>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 906679	NM_001384732.1(CPLANE1):c.*833T>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 906680	NM_001384732.1(CPLANE1):c.*813A>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353403	NM_001384732.1(CPLANE1):c.*807A>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GLikely benign
Select item 906681	NM_001384732.1(CPLANE1):c.*714T>A	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353404	NM_001384732.1(CPLANE1):c.*661T>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353405	NM_001384732.1(CPLANE1):c.*642G>A	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353406	NM_001384732.1(CPLANE1):c.*641C>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GBenign
Select item 353407	NM_001384732.1(CPLANE1):c.*518T>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907706	NM_001384732.1(CPLANE1):c.*471A>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353408	NM_001384732.1(CPLANE1):c.*465G>A	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353409	NM_001384732.1(CPLANE1):c.*441A>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GBenign
Select item 907707	NM_001384732.1(CPLANE1):c.*427G>A	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353410	NM_001384732.1(CPLANE1):c.*423C>G	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GLikely benign
Select item 904367	NM_001384732.1(CPLANE1):c.*408G>A	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 353411	NM_001384732.1(CPLANE1):c.*396T>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GLikely benign
Select item 353412	NM_001384732.1(CPLANE1):c.*94G>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 904368	NM_001384732.1(CPLANE1):c.*40C>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	Joubert syndrome 17	GUncertain significance
Select item 261665	NM_001384732.1(CPLANE1):c.*18G>T	CPLANE1	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3352944	NM_001384732.1(CPLANE1):c.10_14del	CPLANE1	Deletion (3 prime UTR variant)	CPLANE1-related disorder	GLikely benign
Select item 261664	NM_001384732.1(CPLANE1):c.*14T>C	CPLANE1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1401135	NM_001384732.1(CPLANE1):c.9754T>G (p.Ter3252Glu)	CPLANE1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2744353	NM_001384732.1(CPLANE1):c.9747G>A (p.Leu3249=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1042406	NM_001384732.1(CPLANE1):c.9731C>G (p.Ser3244Cys)	CPLANE1 (S3190C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502061	NM_001384732.1(CPLANE1):c.9730T>C (p.Ser3244Pro)	CPLANE1 (S3190P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438936	NM_001384732.1(CPLANE1):c.9730T>G (p.Ser3244Ala)	CPLANE1 (S3244A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 904369	NM_001384732.1(CPLANE1):c.9729G>A (p.Leu3243=)	CPLANE1	Single nucleotide variant (synonymous variant)	Joubert syndrome 17	GUncertain significance
Select item 2056786	NM_001384732.1(CPLANE1):c.9712G>A (p.Val3238Met)	CPLANE1 (V3184M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733530	NM_001384732.1(CPLANE1):c.9711C>T (p.Ser3237=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383645	NM_001384732.1(CPLANE1):c.9580-173_9708delinsGA	CPLANE1	Indel (splice acceptor variant)	not provided	GUncertain significance
Select item 591206	NM_001384732.1(CPLANE1):c.9701TGG[1] (p.Val3235del)	CPLANE1 (V3181del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 950480	NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu)	CPLANE1 (M3180L +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +2 more	GUncertain significance
Select item 1407919	NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys)	CPLANE1 (E3178K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2019306	NM_001384732.1(CPLANE1):c.9689C>T (p.Ala3230Val)	CPLANE1 (A3176V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033232	NM_001384732.1(CPLANE1):c.9688G>A (p.Ala3230Thr)	CPLANE1 (A3176T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470169	NM_001384732.1(CPLANE1):c.9688G>T (p.Ala3230Ser)	CPLANE1 (A3176S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140999	NM_001384732.1(CPLANE1):c.9679G>T (p.Asp3227Tyr)	CPLANE1 (D3227Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177670	NM_001384732.1(CPLANE1):c.9678G>A (p.Leu3226=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200831	NM_001384732.1(CPLANE1):c.9676C>T (p.Leu3226=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299820	NM_001384732.1(CPLANE1):c.9669C>T (p.Leu3223=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076694	NM_001384732.1(CPLANE1):c.9658G>T (p.Gly3220Cys)	CPLANE1 (G3166C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153090	NM_001384732.1(CPLANE1):c.9643G>A (p.Val3215Met)	CPLANE1 (V3161M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450304	NM_001384732.1(CPLANE1):c.9642C>T (p.Ser3214=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 353413	NM_001384732.1(CPLANE1):c.9633dup (p.Val3212fs)	CPLANE1 (V3158fs +1 more)	Duplication (frameshift variant)	Joubert syndrome 17 +1 more	GUncertain significance
Select item 2048640	NM_001384732.1(CPLANE1):c.9631G>A (p.Gly3211Ser)	CPLANE1 (G3157S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603366	NM_001384732.1(CPLANE1):c.9630C>T (p.Gly3210=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049606	NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)	CPLANE1 (E3150* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1988024	NM_001384732.1(CPLANE1):c.9589C>A (p.Pro3197Thr)	CPLANE1 (P3143T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313869	NM_001384732.1(CPLANE1):c.9585_9588del (p.Leu3195fs)	CPLANE1 (L3141fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1585748	NM_001384732.1(CPLANE1):c.9580-17T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655180	NM_001384732.1(CPLANE1):c.9580-18G>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600153	NM_001384732.1(CPLANE1):c.9580-20T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214296	NM_001384732.1(CPLANE1):c.9579+139C>T	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652071	NM_001384732.1(CPLANE1):c.9579+13C>T	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 470168	NM_001384732.1(CPLANE1):c.9579+7A>G	CPLANE1	Single nucleotide variant (intron variant)	Orofaciodigital syndrome type 6 +2 more	GLikely benign
Select item 353414	NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val)	CPLANE1 (L3138V +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1454445	NM_001384732.1(CPLANE1):c.9560del (p.Ser3187fs)	CPLANE1 (S3133fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1617682	NM_001384732.1(CPLANE1):c.9542A>G (p.His3181Arg)	CPLANE1 (H3127R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1502709	NM_001384732.1(CPLANE1):c.9542A>C (p.His3181Pro)	CPLANE1 (H3127P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019991	NM_001384732.1(CPLANE1):c.9541C>T (p.His3181Tyr)	CPLANE1 (H3127Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158061	NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met)	CPLANE1 (T3121M +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 1384797	NM_001384732.1(CPLANE1):c.9493_9516dup (p.Glu3165_Ser3172dup)	CPLANE1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2019596	NM_001384732.1(CPLANE1):c.9514A>T (p.Ser3172Cys)	CPLANE1 (S3118C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156086	NM_001384732.1(CPLANE1):c.9509T>G (p.Val3170Gly)	CPLANE1 (V3170G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1158296	NM_001384732.1(CPLANE1):c.9507T>G (p.Thr3169=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1351292	NM_001384732.1(CPLANE1):c.9496A>G (p.Arg3166Gly)	CPLANE1 (R3112G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084723	NM_001384732.1(CPLANE1):c.9489G>A (p.Glu3163=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1582777	NM_001384732.1(CPLANE1):c.9486A>G (p.Val3162=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1399418	NM_001384732.1(CPLANE1):c.9481T>C (p.Cys3161Arg)	CPLANE1 (C3107R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095671	NM_001384732.1(CPLANE1):c.9480G>T (p.Val3160=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378454	NM_001384732.1(CPLANE1):c.9478G>A (p.Val3160Met)	CPLANE1 (V3106M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302639	NM_001384732.1(CPLANE1):c.9473A>C (p.Lys3158Thr)	CPLANE1 (K3104T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1152960	NM_001384732.1(CPLANE1):c.9471C>T (p.Thr3157=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343915	NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg)	CPLANE1 (Q3102R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GUncertain significance
Select item 965116	NM_001384732.1(CPLANE1):c.9466C>T (p.Gln3156Ter)	CPLANE1 (Q3102* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 385186	NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg)	CPLANE1 (G3098R +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +2 more	GConflicting classifications of pathogenicity
Select item 1983361	NM_001384732.1(CPLANE1):c.9446G>A (p.Gly3149Glu)	CPLANE1 (G3149E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2017435	NM_001384732.1(CPLANE1):c.9442C>T (p.His3148Tyr)	CPLANE1 (H3094Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1333433	NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)	CPLANE1 (H3094fs +1 more)	Duplication (frameshift variant)	Orofaciodigital syndrome type 6 +1 more	GLikely pathogenic
Select item 1921162	NM_001384732.1(CPLANE1):c.9432T>C (p.His3144=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434176	NM_001384732.1(CPLANE1):c.9431A>G (p.His3144Arg)	CPLANE1 (H3090R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450040	NM_001384732.1(CPLANE1):c.9414G>T (p.Pro3138=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 388936	NM_001384732.1(CPLANE1):c.9414G>A (p.Pro3138=)	CPLANE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2181060	NM_001384732.1(CPLANE1):c.9413C>T (p.Pro3138Leu)	CPLANE1 (P3084L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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