ClinVar for Gene (Select 65250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067508	NM_001384732.1(CPLANE1):c.6219C>T (p.Ser2073=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062871	GRCh37/hg19 5p13.2(chr5:37027159-37673405)x3	CPLANE1, NIPBL +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062829	GRCh37/hg19 5p13.2(chr5:36799352-37123083)x3	CPLANE1, NIPBL	Copy number gain	not specified	GPathogenic
Select item 3062828	GRCh37/hg19 5p13.2(chr5:37156374-37603305)x3	CPLANE1, NUP155 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062816	GRCh37/hg19 5p13.2(chr5:37244668-37316387)x3	CPLANE1, NUP155	Copy number gain	not specified	GUncertain significance
Select item 3061268	NM_001384732.1(CPLANE1):c.6867T>A (p.Tyr2289Ter)	CPLANE1 (Y2289*)	Single nucleotide variant (nonsense)	CPLANE1-related condition	GLikely pathogenic
Select item 3048924	NM_001384732.1(CPLANE1):c.1372-84G>A	CPLANE1	Single nucleotide variant (intron variant)	CPLANE1-related condition	GLikely benign
Select item 3039324	NM_001384732.1(CPLANE1):c.7722G>A (p.Leu2574=)	CPLANE1	Single nucleotide variant (synonymous variant)	CPLANE1-related condition	GLikely benign
Select item 3027405	GRCh37/hg19 5p13.2(chr5:37142412-37148370)x1	CPLANE1	Copy number loss	not provided	GPathogenic
Select item 3026960	NM_001384732.1(CPLANE1):c.7709C>T (p.Ala2570Val)	CPLANE1 (A2570V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024478	NM_001384732.1(CPLANE1):c.6519_6520del (p.Gly2174fs)	CPLANE1 (G2174fs)	Deletion (frameshift variant)	Joubert syndrome 17	GPathogenic
Select item 3022639	NM_001384732.1(CPLANE1):c.123T>C (p.Asn41=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021223	NM_001384732.1(CPLANE1):c.5571-4dup	CPLANE1	Duplication (intron variant)	not provided	GBenign
Select item 3015871	NM_001384732.1(CPLANE1):c.678-15T>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015681	NM_001384732.1(CPLANE1):c.393C>T (p.Leu131=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014525	NM_001384732.1(CPLANE1):c.5958T>C (p.Asp1986=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014383	NM_001384732.1(CPLANE1):c.7012C>G (p.Pro2338Ala)	CPLANE1 (P2338A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3009199	NM_001384732.1(CPLANE1):c.5821-2A>G	CPLANE1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3006425	NM_001384732.1(CPLANE1):c.7938A>G (p.Pro2646=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005544	NM_001384732.1(CPLANE1):c.4803del (p.Lys1601fs)	CPLANE1 (K1601fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3004432	NM_001384732.1(CPLANE1):c.4562C>T (p.Pro1521Leu)	CPLANE1 (P1521L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000744	NM_001384732.1(CPLANE1):c.4890A>G (p.Lys1630=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000246	NM_001384732.1(CPLANE1):c.5421+13A>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997723	NM_001384732.1(CPLANE1):c.1206T>C (p.Ser402=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996295	NM_001384732.1(CPLANE1):c.9185+18A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993549	NM_001384732.1(CPLANE1):c.3387A>G (p.Thr1129=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992014	NM_001384732.1(CPLANE1):c.4572A>G (p.Lys1524=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986582	NM_001384732.1(CPLANE1):c.4607C>T (p.Pro1536Leu)	CPLANE1 (P1536L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982171	NM_001384732.1(CPLANE1):c.6734G>A (p.Ser2245Asn)	CPLANE1 (S2245N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971656	NM_001384732.1(CPLANE1):c.5872dup (p.Met1958fs)	CPLANE1 (M1958fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2970705	NM_001384732.1(CPLANE1):c.5019A>C (p.Gly1673=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962418	NM_001384732.1(CPLANE1):c.2223C>T (p.Asn741=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956256	NM_001384732.1(CPLANE1):c.5421+11C>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955091	NM_001384732.1(CPLANE1):c.5190A>G (p.Gln1730=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954600	NM_001384732.1(CPLANE1):c.5259G>A (p.Trp1753Ter)	CPLANE1 (W1753*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920576	NM_001384732.1(CPLANE1):c.6606A>G (p.Thr2202=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919759	NM_001384732.1(CPLANE1):c.3225T>G (p.Val1075=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918315	NM_001384732.1(CPLANE1):c.5924C>T (p.Pro1975Leu)	CPLANE1 (P1975L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918314	NM_001384732.1(CPLANE1):c.6676C>T (p.Pro2226Ser)	CPLANE1 (P2226S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917653	NM_001384732.1(CPLANE1):c.1137G>A (p.Thr379=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917581	NM_001384732.1(CPLANE1):c.2149A>G (p.Ser717Gly)	CPLANE1 (S717G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917576	NM_001384732.1(CPLANE1):c.3497T>C (p.Ile1166Thr)	CPLANE1 (I1166T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2917238	NM_001384732.1(CPLANE1):c.3141T>C (p.Asn1047=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916973	NM_001384732.1(CPLANE1):c.5639A>G (p.His1880Arg)	CPLANE1 (H1880R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916936	NM_001384732.1(CPLANE1):c.5493C>T (p.Gly1831=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916390	NM_001384732.1(CPLANE1):c.7002G>A (p.Val2334=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912560	NM_001384732.1(CPLANE1):c.7533+15C>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911970	NM_001384732.1(CPLANE1):c.4965A>G (p.Gln1655=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911879	NM_001384732.1(CPLANE1):c.7978A>C (p.Asn2660His)	CPLANE1 (N2642H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909444	NM_001384732.1(CPLANE1):c.6998_7005del (p.Ser2333fs)	CPLANE1 (S2333fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2909226	NM_001384732.1(CPLANE1):c.5571-4T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908628	NM_001384732.1(CPLANE1):c.6172-8T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907199	NM_001384732.1(CPLANE1):c.2746+14T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906578	NM_001384732.1(CPLANE1):c.3508-16G>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904703	NM_001384732.1(CPLANE1):c.6768A>G (p.Gln2256=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904353	NM_001384732.1(CPLANE1):c.9310+14C>T	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902586	NM_001384732.1(CPLANE1):c.8402_8406del (p.Ser2801fs)	CPLANE1 (S2747fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2902585	NM_001384732.1(CPLANE1):c.8981T>C (p.Ile2994Thr)	CPLANE1 (I2940T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902300	NM_001384732.1(CPLANE1):c.8792+19A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2901424	NM_001384732.1(CPLANE1):c.6810T>C (p.Ala2270=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901061	NM_001384732.1(CPLANE1):c.8462-10T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900738	NM_001384732.1(CPLANE1):c.1236C>T (p.Leu412=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900074	NM_001384732.1(CPLANE1):c.5583T>G (p.Thr1861=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899493	NM_001384732.1(CPLANE1):c.5421+9_5421+10insAAATACAATTG	CPLANE1	Insertion (intron variant)	not provided	GLikely benign
Select item 2898668	NM_001384732.1(CPLANE1):c.9018-16_9018-13del	CPLANE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2895582	NM_001384732.1(CPLANE1):c.5421+7del	CPLANE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2894953	NM_001384732.1(CPLANE1):c.1372-14C>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893313	NM_001384732.1(CPLANE1):c.4800A>G (p.Leu1600=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892586	NM_001384732.1(CPLANE1):c.8904G>A (p.Glu2968=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891860	NM_001384732.1(CPLANE1):c.1327del (p.Thr443fs)	CPLANE1 (T443fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2888333	NM_001384732.1(CPLANE1):c.6375A>C (p.Gly2125=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887224	NM_001384732.1(CPLANE1):c.938+13T>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885237	NM_001384732.1(CPLANE1):c.6321A>G (p.Glu2107=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882780	NM_001384732.1(CPLANE1):c.4190-20T>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882515	NM_001384732.1(CPLANE1):c.3811+10A>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882099	NM_001384732.1(CPLANE1):c.6462+10G>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874733	NM_001384732.1(CPLANE1):c.2148A>G (p.Gly716=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874703	NM_001384732.1(CPLANE1):c.3778C>G (p.His1260Asp)	CPLANE1 (H1260D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874702	NM_001384732.1(CPLANE1):c.7179A>C (p.Glu2393Asp)	CPLANE1 (E2393D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874634	NM_001384732.1(CPLANE1):c.8436A>C (p.Ser2812=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867452	NM_001384732.1(CPLANE1):c.8692G>T (p.Gly2898Ter)	CPLANE1 (G2898* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2865971	NM_001384732.1(CPLANE1):c.7236C>T (p.Cys2412=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865445	NM_001384732.1(CPLANE1):c.214A>T (p.Asn72Tyr)	CPLANE1 (N72Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861278	NM_001384732.1(CPLANE1):c.9018-8G>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859776	NM_001384732.1(CPLANE1):c.3630_3631del (p.Trp1210_Tyr1211delinsTer)	CPLANE1	Deletion (nonsense)	not provided	GPathogenic
Select item 2857417	NM_001384732.1(CPLANE1):c.246A>G (p.Thr82=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851202	NM_001384732.1(CPLANE1):c.2921-10T>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2851201	NM_001384732.1(CPLANE1):c.5366G>A (p.Trp1789Ter)	CPLANE1 (W1789*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2849421	NM_001384732.1(CPLANE1):c.9186-7A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849009	NM_001384732.1(CPLANE1):c.1630T>C (p.Leu544=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840261	NM_001384732.1(CPLANE1):c.3061T>C (p.Leu1021=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840014	NM_001384732.1(CPLANE1):c.591G>A (p.Leu197=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837887	NM_001384732.1(CPLANE1):c.3231T>C (p.Gly1077=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837483	NM_001384732.1(CPLANE1):c.8633-14G>C	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835769	NM_001384732.1(CPLANE1):c.723C>T (p.Leu241=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834236	NM_001384732.1(CPLANE1):c.7738_7739del (p.Leu2580fs)	CPLANE1 (L2580fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2832123	NM_001384732.1(CPLANE1):c.9400+16G>A	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831554	NM_001384732.1(CPLANE1):c.4312G>T (p.Glu1438Ter)	CPLANE1, LOC129389274 (E1438*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2829824	NM_001384732.1(CPLANE1):c.3578G>T (p.Arg1193Leu)	CPLANE1 (R1193L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2826462	NM_001384732.1(CPLANE1):c.3149+18A>G	CPLANE1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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