ClinVar for Gene (Select 65250) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382237	NM_001384732.1(CPLANE1):c.4153T>C (p.Ser1385Pro)	CPLANE1 (S1385P)	Single nucleotide variant (missense variant)	Joubert syndrome 17 +1 more	GUncertain significance
Select item 3369497	NM_001384732.1(CPLANE1):c.1129C>G (p.Gln377Glu)	CPLANE1 (Q377E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368331	NM_001384732.1(CPLANE1):c.2225G>C (p.Trp742Ser)	CPLANE1 (W742S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364619	NM_001384732.1(CPLANE1):c.3560T>A (p.Val1187Glu)	CPLANE1 (V1187E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362213	NM_001384732.1(CPLANE1):c.380A>G (p.Lys127Arg)	CPLANE1 (K127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362059	NM_001384732.1(CPLANE1):c.845T>A (p.Val282Glu)	CPLANE1 (V282E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361294	NM_001384732.1(CPLANE1):c.3635T>C (p.Ile1212Thr)	CPLANE1 (I1212T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352944	NM_001384732.1(CPLANE1):c.10_14del	CPLANE1	Deletion (3 prime UTR variant)	CPLANE1-related disorder	GLikely benign
Select item 3348737	NM_001384732.1(CPLANE1):c.2326dup (p.Thr776fs)	CPLANE1 (T776fs)	Duplication (frameshift variant)	CPLANE1-related disorder	GLikely pathogenic
Select item 3347009	NM_001384732.1(CPLANE1):c.9400+2T>G	CPLANE1	Single nucleotide variant (splice donor variant)	CPLANE1-related disorder	GLikely pathogenic
Select item 3346269	NM_001384732.1(CPLANE1):c.2571C>A (p.Ile857=)	CPLANE1	Single nucleotide variant (synonymous variant)	CPLANE1-related disorder	GLikely benign
Select item 3339553	NM_001384732.1(CPLANE1):c.2612G>T (p.Arg871Leu)	CPLANE1 (R871L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336862	NM_001384732.1(CPLANE1):c.570G>A (p.Glu190=)	CPLANE1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3255190	NM_001384732.1(CPLANE1):c.4033C>T (p.Gln1345Ter)	CPLANE1 (Q1345*)	Single nucleotide variant (nonsense)	Joubert syndrome 17	GPathogenic
Select item 3252840	NM_001384732.1(CPLANE1):c.1102C>A (p.His368Asn)	CPLANE1 (H368N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246533	NC_000005.9:g.(?_37230949)_(37231171_?)del	CPLANE1	Deletion	not provided	GPathogenic
Select item 3246417	NC_000005.9:g.(?_36961566)_(37371079_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246416	NC_000005.9:g.(?_36683946)_(37187964_?)dup	CPLANE1, NIPBL +1 more	Duplication	Cornelia de Lange syndrome 1	GUncertain significance
Select item 3246415	NC_000005.9:g.(?_37063872)_(37108593_?)del	CPLANE1, NIPBL	Deletion	Cornelia de Lange syndrome 1	GPathogenic
Select item 3242414	NM_001384732.1(CPLANE1):c.6515_6522del (p.Lys2172fs)	CPLANE1 (K2172fs)	Deletion (frameshift variant)	Joubert syndrome 17	GLikely pathogenic
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 3076693	NM_001384732.1(CPLANE1):c.9231A>T (p.Lys3077Asn)	CPLANE1 (K3077N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076692	NM_001384732.1(CPLANE1):c.8958+4A>G	CPLANE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3076691	NM_001384732.1(CPLANE1):c.8602A>T (p.Ser2868Cys)	CPLANE1 (S2814C +1 more)	Single nucleotide variant (missense variant)	Orofaciodigital syndrome type 6 +1 more	GUncertain significance
Select item 3076689	NM_001384732.1(CPLANE1):c.7533+5A>G	CPLANE1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3076688	NM_001384732.1(CPLANE1):c.7460A>G (p.Lys2487Arg)	CPLANE1 (K2487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076687	NM_001384732.1(CPLANE1):c.7457G>A (p.Arg2486Lys)	CPLANE1 (R2486K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076686	NM_001384732.1(CPLANE1):c.7062C>G (p.His2354Gln)	CPLANE1 (H2354Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3076685	NM_001384732.1(CPLANE1):c.6509C>T (p.Pro2170Leu)	CPLANE1 (P2170L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076684	NM_001384732.1(CPLANE1):c.5408dup (p.Asn1803fs)	CPLANE1 (N1803fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3076683	NM_001384732.1(CPLANE1):c.3637T>G (p.Leu1213Val)	CPLANE1 (L1213V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076682	NM_001384732.1(CPLANE1):c.2644T>C (p.Tyr882His)	CPLANE1 (Y882H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076681	NM_001384732.1(CPLANE1):c.2524T>A (p.Ser842Thr)	CPLANE1 (S842T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076680	NM_001384732.1(CPLANE1):c.2357G>C (p.Arg786Thr)	CPLANE1 (R786T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076679	NM_001384732.1(CPLANE1):c.229G>T (p.Ala77Ser)	CPLANE1 (A77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076677	NM_001384732.1(CPLANE1):c.1507G>T (p.Ala503Ser)	CPLANE1 (A503S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076676	NM_001384732.1(CPLANE1):c.1438G>C (p.Gly480Arg)	CPLANE1 (G480R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3076675	NM_001384732.1(CPLANE1):c.1305G>A (p.Met435Ile)	CPLANE1 (M435I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 disorder	GLikely pathogenic
Select item 3048924	NM_001384732.1(CPLANE1):c.1372-84G>A	CPLANE1	Single nucleotide variant (intron variant)	CPLANE1-related disorder	GLikely benign
Select item 3039324	NM_001384732.1(CPLANE1):c.7722G>A (p.Leu2574=)	CPLANE1	Single nucleotide variant (synonymous variant)	CPLANE1-related disorder	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

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